HAEM5:Acute erythroid leukaemia: Difference between revisions

[checked revision]

Revision as of 09:00, 11 February 2025

Haematolymphoid Tumours (WHO Classification, 5th ed.)

This page is under construction

editContent Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification

This page was converted to the new template on 2023-12-07. The original page can be found at HAEM4:Pure Erythroid Leukemia.
Note: need to check if content remains the same

(General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use HUGO-approved gene names and symbols (italicized when appropriate), HGVS-based nomenclature for variants, as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support.)

Primary Author(s)*

Ashwini Yenamandra PhD FACMG

WHO Classification of Disease

Structure	Disease
Book	Haematolymphoid Tumours (5th ed.)
Category	Myeloid proliferations and neoplasms
Family	Acute myeloid leukaemia
Type	Acute myeloid leukaemia, defined by differentiation
Subtype(s)	Acute erythroid leukaemia

WHO Essential and Desirable Genetic Diagnostic Criteria

(Instructions: The table will have the diagnostic criteria from the WHO book autocompleted; remove any non-genetics related criteria. If applicable, add text about other classification systems that define this entity and specify how the genetics-related criteria differ.)


WHO Essential Criteria (Genetics)*
WHO Desirable Criteria (Genetics)*
Other Classification

*Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the WHO Classification of Tumours.

Related Terminology

(Instructions: The table will have the related terminology from the WHO autocompleted.)


Acceptable
Not Recommended

Gene Rearrangements

Put your text here and fill in the table (Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.)

Driver Gene	Fusion(s) and Common Partner Genes	Molecular Pathogenesis	Typical Chromosomal Alteration(s)	Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)	Diagnostic, Prognostic, and Therapeutic Significance - D, P, T	Established Clinical Significance Per Guidelines - Yes or No (Source)	Clinical Relevance Details/Other Notes
EXAMPLE: ABL1	EXAMPLE: BCR::ABL1	EXAMPLE: The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.	EXAMPLE: t(9;22)(q34;q11.2)	EXAMPLE: Common (CML)	EXAMPLE: D, P, T	EXAMPLE: Yes (WHO, NCCN)	EXAMPLE: The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).
EXAMPLE: CIC	EXAMPLE: CIC::DUX4	EXAMPLE: Typically, the last exon of CIC is fused to DUX4. The fusion breakpoint in CIC is usually intra-exonic and removes an inhibitory sequence, upregulating PEA3 genes downstream of CIC including ETV1, ETV4, and ETV5.	EXAMPLE: t(4;19)(q25;q13)	EXAMPLE: Common (CIC-rearranged sarcoma)	EXAMPLE: D		EXAMPLE: DUX4 has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).
EXAMPLE: ALK	EXAMPLE: ELM4::ALK Other fusion partners include KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1	EXAMPLE: Fusions result in constitutive activation of the ALK tyrosine kinase. The most common ALK fusion is EML4::ALK, with breakpoints in intron 19 of ALK. At the transcript level, a variable (5’) partner gene is fused to 3’ ALK at exon 20. Rarely, ALK fusions contain exon 19 due to breakpoints in intron 18.	EXAMPLE: N/A	EXAMPLE: Rare (Lung adenocarcinoma)	EXAMPLE: T		EXAMPLE: Both balanced and unbalanced forms are observed by FISH (add references).
EXAMPLE: ABL1	EXAMPLE: N/A	EXAMPLE: Intragenic deletion of exons 2–7 in EGFR removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways.	EXAMPLE: N/A	EXAMPLE: Recurrent (IDH-wildtype Glioblastoma)	EXAMPLE: D, P, T

editv4:Chromosomal Rearrangements (Gene Fusions)

The content below was from the old template. Please incorporate above.

The genetic abnormalities that have been identified in PEL are similar to that of AML and MDS and consists of complex chromosomal abnormalities including -5/del(5q), -7/del(7q), +8 and/or RUNX1 and TP53 mutations^[1]. Rearrangement of NFIA-CBFA2T3 with t(1;16)(p31;q24) and MYND8-RELA with t(11;20)(p11;q11) have been reported in rare cases^[2]. A complex karyotype with 46,XY,der(5)del(5)(p15.1p15.1)t(5;12;7)(p15.1;p13;q32),der(7)t(5;12;7),der(12)del(12)p13p13)t(5;12;7),del(13)(q12q14) was reported in a two year old boy with PEL^[3].

Karyotype of two year old boy with PEL^[3].

FISH for ETV6 and RUNX1 in two year old boy with PEL^[3].

FISH for EGR1 and D5S23,D5S721 (5p-) in two year old boy with PEL^[3].

FISH for RB1 and 13q34 (13q deletion) in two year old boy with PEL^[3].

Chromosomal Rearrangement	Genes in Fusion (5’ or 3’ Segments)	Pathogenic Derivative	Prevalence
t(1;16)(p31;q24)	5’NFIA/ 3’CBFA2T3	der(16)	Rare
t(11;20)(p11;q11)	5’MYND8/ 3’RELA	der(11)	Rare

End of V4 Section

editv4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).

Please incorporate this section into the relevant tables found in:
Chromosomal Rearrangements (Gene Fusions)

Individual Region Genomic Gain/Loss/LOH

Characteristic Chromosomal Patterns

Gene Mutations (SNV/INDEL)

PEL has rapid and aggressive clinical course. Patients with PEL are treated similar to other types of AML. Stem cell transplantation (SCT) may have an improvement in the outcome of the disease. No therapeutic agents for specific target pathways are currently available^[4].

End of V4 Section

Individual Region Genomic Gain/Loss/LOH

Put your text here and fill in the table (Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.)

Chr #	Gain, Loss, Amp, LOH	Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]	Relevant Gene(s)	Diagnostic, Prognostic, and Therapeutic Significance - D, P, T	Established Clinical Significance Per Guidelines - Yes or No (Source)	Clinical Relevance Details/Other Notes
EXAMPLE: 7	EXAMPLE: Loss	EXAMPLE: chr7	EXAMPLE: Unknown	EXAMPLE: D, P	EXAMPLE: No	EXAMPLE: Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).
EXAMPLE: 8	EXAMPLE: Gain	EXAMPLE: chr8	EXAMPLE: Unknown	EXAMPLE: D, P		EXAMPLE: Common recurrent secondary finding for t(8;21) (add references).
EXAMPLE: 17	EXAMPLE: Amp	EXAMPLE: 17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]	EXAMPLE: ERBB2	EXAMPLE: D, P, T		EXAMPLE: Amplification of ERBB2 is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.

editv4:Genomic Gain/Loss/LOH

The content below was from the old template. Please incorporate above.

Not Applicable

Chromosome Number	Gain/Loss/Amp/LOH	Region
5	Loss	Whole chromosome or q-arm
7	Loss	Whole chromosome or q-arm
8	Gain	Whole chromosome
17	Loss	P-arm

End of V4 Section

Characteristic Chromosomal or Other Global Mutational Patterns

Put your text here and fill in the table (Instructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.)

Chromosomal Pattern	Molecular Pathogenesis	Prevalence - Common >20%, Recurrent 5-20% or Rare <5% (Disease)	Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
EXAMPLE: Co-deletion of 1p and 18q	EXAMPLE: See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).	EXAMPLE: Common (Oligodendroglioma)	EXAMPLE: D, P
EXAMPLE: Microsatellite instability - hypermutated		EXAMPLE: Common (Endometrial carcinoma)	EXAMPLE: P, T

editv4:Characteristic Chromosomal Aberrations / Patterns

The content below was from the old template. Please incorporate above.

End of V4 Section

Gene Mutations (SNV/INDEL)

Put your text here and fill in the table (Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.)

Gene	Genetic Alteration	Tumor Suppressor Gene, Oncogene, Other	Prevalence - Common >20%, Recurrent 5-20% or Rare <5% (Disease)	Diagnostic, Prognostic, and Therapeutic Significance - D, P, T	Established Clinical Significance Per Guidelines - Yes or No (Source)	Clinical Relevance Details/Other Notes
EXAMPLE:EGFR	EXAMPLE: Exon 18-21 activating mutations	EXAMPLE: Oncogene	EXAMPLE: Common (lung cancer)	EXAMPLE: T	EXAMPLE: Yes (NCCN)	EXAMPLE: Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
EXAMPLE: TP53; Variable LOF mutations	EXAMPLE: Variable LOF mutations	EXAMPLE: Tumor Supressor Gene	EXAMPLE: Common (breast cancer)	EXAMPLE: P		EXAMPLE: >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
EXAMPLE: BRAF; Activating mutations	EXAMPLE: Activating mutations	EXAMPLE: Oncogene	EXAMPLE: Common (melanoma)	EXAMPLE: T

Note: A more extensive list of mutations can be found in cBioportal, COSMIC, and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

editv4:Gene Mutations (SNV/INDEL)

The content below was from the old template. Please incorporate above.

JAK2, FLT3, RAS, NPM1, and CEBPA mutations have been reported to be rare in PEL^[2]^[3]^[5]. Intraclonal heterogeneity and founder mutations of TP53 were reported in 92% (11 out of 12 cases) while co-occurrence of TP53 mutation and deletion due to chromosome 17p abnormalities were detected in 73% of PEL cases^[6].

Gene	Mutation	Oncogene/Tumor Suppressor/Other	Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)	Prevalence (COSMIC/TCGA/Other)
EXAMPLE: TP53	EXAMPLE: R273H	EXAMPLE: Tumor Suppressor	EXAMPLE: LOF	EXAMPLE: 20%

Other Mutations

Type	Gene/Region/Other
Concomitant Mutations	EXAMPLE: IDH1 R123H
Secondary Mutations	EXAMPLE: Trisomy 7
Mutually Exclusive	EXAMPLE: EGFR Amplification

End of V4 Section

Epigenomic Alterations

Not Applicable

Genes and Main Pathways Involved

Put your text here and fill in the table (Instructions: Please include references throughout the table. Do not delete the table.)

Gene; Genetic Alteration	Pathway	Pathophysiologic Outcome
EXAMPLE: BRAF and MAP2K1; Activating mutations	EXAMPLE: MAPK signaling	EXAMPLE: Increased cell growth and proliferation
EXAMPLE: CDKN2A; Inactivating mutations	EXAMPLE: Cell cycle regulation	EXAMPLE: Unregulated cell division
EXAMPLE: KMT2C and ARID1A; Inactivating mutations	EXAMPLE: Histone modification, chromatin remodeling	EXAMPLE: Abnormal gene expression program

editv4:Genes and Main Pathways Involved

The content below was from the old template. Please incorporate above.

The molecular mechanism is not completely understood.

End of V4 Section

Genetic Diagnostic Testing Methods

Morphology and IHC.

Familial Forms

Not Applicable

Additional Information

Differential Diagnosis: PEL without morphological differentiation of erythroid maturation can be difficult to distinguish from megakaryoblastic leukemia (AML), ALL or lymphoma. The erythroid precursor immunophenotype helps in the diagnosis. Some cases can be complex with concurrent erythroid megakaryocytic involvement^[1].

Links

Acute Erythroid Leukemia

References

(use the "Cite" icon at the top of the page) (Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted.)

↑ ^1.0 ^1.1 Arber DA, et al., (2008). World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p135-136.
↑ ^2.0 ^2.1 Wang, Wei; et al. (2017). "Pure erythroid leukemia". American Journal of Hematology. 92 (3): 292–296. doi:10.1002/ajh.24626. ISSN 1096-8652. PMID 28006859.
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 A, Yenamandra (2016). "Acute Erythroblastic Leukemia (AEL): A Rare Subset of De Novo AML with A Complex Rearrangement Involving ETV6 Locus and Loss of RB1 Locus". International Clinical Pathology Journal. 2 (2). doi:10.15406/icpjl.2016.02.00032.
↑ Zuo, Zhuang; et al. (2010). "Acute erythroid leukemia". Archives of Pathology & Laboratory Medicine. 134 (9): 1261–1270. doi:10.1043/2009-0350-RA.1. ISSN 1543-2165. PMID 20807044.
↑ Fs, Khan (2017). "Pure Erythroid Leukemia: The Sole Acute Erythroid Leukemia". International Journal of Bone Marrow Research. 1 (1): 001–005. doi:10.29328/journal.ijbmr.1001001.
↑ Montalban-Bravo, Guillermo; et al. (2017). "More than 1 TP53 abnormality is a dominant characteristic of pure erythroid leukemia". Blood. 129 (18): 2584–2587. doi:10.1182/blood-2016-11-749903. ISSN 1528-0020. PMC 5418636. PMID 28246192.

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the Associate Editor or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.

Prior Author(s):

*Citation of this Page: “Acute erythroid leukaemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 02/11/2025, https://ccga.io/index.php/HAEM5:Acute_erythroid_leukaemia.

[:0-1] 1.0 ^1.1 Arber DA, et al., (2008). World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p135-136.

[:9-2] 2.0 ^2.1 Wang, Wei; et al. (2017). "Pure erythroid leukemia". American Journal of Hematology. 92 (3): 292–296. doi:10.1002/ajh.24626. ISSN 1096-8652. PMID 28006859.

[:10-3] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 A, Yenamandra (2016). "Acute Erythroblastic Leukemia (AEL): A Rare Subset of De Novo AML with A Complex Rearrangement Involving ETV6 Locus and Loss of RB1 Locus". International Clinical Pathology Journal. 2 (2). doi:10.15406/icpjl.2016.02.00032.

[:2-4] Zuo, Zhuang; et al. (2010). "Acute erythroid leukemia". Archives of Pathology & Laboratory Medicine. 134 (9): 1261–1270. doi:10.1043/2009-0350-RA.1. ISSN 1543-2165. PMID 20807044.

[:11-5] Fs, Khan (2017). "Pure Erythroid Leukemia: The Sole Acute Erythroid Leukemia". International Journal of Bone Marrow Research. 1 (1): 001–005. doi:10.29328/journal.ijbmr.1001001.

[6] Montalban-Bravo, Guillermo; et al. (2017). "More than 1 TP53 abnormality is a dominant characteristic of pure erythroid leukemia". Blood. 129 (18): 2584–2587. doi:10.1182/blood-2016-11-749903. ISSN 1528-0020. PMC 5418636. PMID 28246192.

[1]

[2]

[3]

[4]

[5]

[6]

@@ Line 1: / Line 1: @@
 {{DISPLAYTITLE:Acute erythroid leukaemia}}
 [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
 {{Under Construction}}
-<blockquote class='blockedit'>{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Pure Erythroid Leukemia]].
+<blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Pure Erythroid Leukemia]].
 Note: need to check if content remains the same
@@ Line 37: / Line 38: @@
 |Subtype(s)
 |Acute erythroid leukaemia
-|}
-==Definition / Description of Disease==
-In the 2008 WHO classification, Acute Erythroid leukemia (AEL) was classified into two subtypes: Erythroleukemia (erythroid/myeloid) and Pure Erythroid Leukemia (PEL). However, in the 2016 WHO update, Erythroleukemia was merged into myelodysplastic syndrome, while PEL is now the only type of AEL<ref name=":0">Arber DA, et al., (2008). World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p135-136.</ref><ref name=":1">{{Cite journal|last=Qiu|first=Shaowei|last2=Jiang|first2=Erlie|last3=Wei|first3=Hui|last4=Lin|first4=Dong|last5=Zhang|first5=Guangji|last6=Wei|first6=Shuning|last7=Zhou|first7=Chunlin|last8=Liu|first8=Kaiqi|last9=Wang|first9=Ying|date=2017|title=An analysis of 97 previously diagnosed de novo adult acute erythroid leukemia patients following the 2016 revision to World Health Organization classification|url=https://www.ncbi.nlm.nih.gov/pubmed/28793875|journal=BMC cancer|volume=17|issue=1|pages=534|doi=10.1186/s12885-017-3528-6|issn=1471-2407|pmc=5550989|pmid=28793875}}</ref><ref name=":2">{{Cite journal|last=Zuo|first=Zhuang|last2=Polski|first2=Jacek M.|last3=Kasyan|first3=Armen|last4=Medeiros|first4=L. Jeffrey|date=2010|title=Acute erythroid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/20807044|journal=Archives of Pathology & Laboratory Medicine|volume=134|issue=9|pages=1261–1270|doi=10.1043/2009-0350-RA.1|issn=1543-2165|pmid=20807044}}</ref><ref name=":3">{{Cite journal|last=Arber|first=Daniel A.|last2=Orazi|first2=Attilio|last3=Hasserjian|first3=Robert|last4=Thiele|first4=Jürgen|last5=Borowitz|first5=Michael J.|last6=Le Beau|first6=Michelle M.|last7=Bloomfield|first7=Clara D.|last8=Cazzola|first8=Mario|last9=Vardiman|first9=James W.|date=2016|title=The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/27069254|journal=Blood|volume=127|issue=20|pages=2391–2405|doi=10.1182/blood-2016-03-643544|issn=1528-0020|pmid=27069254}}</ref><ref name=":4">{{Cite journal|last=Zuo|first=Zhuang|last2=Medeiros|first2=L. Jeffrey|last3=Chen|first3=Zhao|last4=Liu|first4=Dingsheng|last5=Bueso-Ramos|first5=Carlos E.|last6=Luthra|first6=Rajyalakshmi|last7=Wang|first7=Sa A.|date=2012|title=Acute myeloid leukemia (AML) with erythroid predominance exhibits clinical and molecular characteristics that differ from other types of AML|url=https://www.ncbi.nlm.nih.gov/pubmed/22844482|journal=PloS One|volume=7|issue=7|pages=e41485|doi=10.1371/journal.pone.0041485|issn=1932-6203|pmc=3402404|pmid=22844482}}</ref><ref name=":5">{{Cite journal|last=Grossmann|first=V.|last2=Bacher|first2=U.|last3=Haferlach|first3=C.|last4=Schnittger|first4=S.|last5=Pötzinger|first5=F.|last6=Weissmann|first6=S.|last7=Roller|first7=A.|last8=Eder|first8=C.|last9=Fasan|first9=A.|date=2013|title=Acute erythroid leukemia (AEL) can be separated into distinct prognostic subsets based on cytogenetic and molecular genetic characteristics|url=https://www.ncbi.nlm.nih.gov/pubmed/23648669|journal=Leukemia|volume=27|issue=9|pages=1940–1943|doi=10.1038/leu.2013.144|issn=1476-5551|pmid=23648669}}</ref><ref name=":6">{{Cite journal|last=Porwit|first=Anna|last2=Vardiman|first2=James W.|date=2011|title=Acute myeloid leukemia with expanded erythropoiesis|url=https://www.ncbi.nlm.nih.gov/pubmed/21880638|journal=Haematologica|volume=96|issue=9|pages=1241–1243|doi=10.3324/haematol.2011.050526|issn=1592-8721|pmc=3166090|pmid=21880638}}</ref><ref name=":7">{{Cite journal|last=Hasserjian|first=Robert P.|last2=Zuo|first2=Zhuang|last3=Garcia|first3=Christine|last4=Tang|first4=Guilin|last5=Kasyan|first5=Armen|last6=Luthra|first6=Rajyalakshmi|last7=Abruzzo|first7=Lynne V.|last8=Kantarjian|first8=Hagop M.|last9=Medeiros|first9=L. Jeffrey|date=2010|title=Acute erythroid leukemia: a reassessment using criteria refined in the 2008 WHO classification|url=https://www.ncbi.nlm.nih.gov/pubmed/20040759|journal=Blood|volume=115|issue=10|pages=1985–1992|doi=10.1182/blood-2009-09-243964|issn=1528-0020|pmc=2942006|pmid=20040759}}</ref><ref name=":8">{{Cite journal|last=Wang|first=Sa A.|last2=Hasserjian|first2=Robert P.|date=2015|title=Acute Erythroleukemias, Acute Megakaryoblastic Leukemias, and Reactive Mimics: A Guide to a Number of Perplexing Entities|url=https://www.ncbi.nlm.nih.gov/pubmed/26071461|journal=American Journal of Clinical Pathology|volume=144|issue=1|pages=44–60|doi=10.1309/AJCPRKYAT6EZQHC7|issn=1943-7722|pmid=26071461}}</ref><ref name=":9">{{Cite journal|last=Wang|first=Wei|last2=Wang|first2=Sa A.|last3=Medeiros|first3=L. Jeffrey|last4=Khoury|first4=Joseph D.|date=2017|title=Pure erythroid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/28006859|journal=American Journal of Hematology|volume=92|issue=3|pages=292–296|doi=10.1002/ajh.24626|issn=1096-8652|pmid=28006859}}</ref><ref name=":10">{{Cite journal|last=A|first=Yenamandra|date=2016|title=Acute Erythroblastic Leukemia (AEL): A Rare Subset of De Novo AML with A Complex Rearrangement Involving ETV6 Locus and Loss of RB1 Locus|url=https://medcraveonline.com/ICPJL/acute-erythroblastic-leukemia-ael-a-rare-subset-of-de-novo-aml-with-a-complex-rearrangement-involving-etv6-locus-and-loss-of-rb1-locus.html|journal=International Clinical Pathology Journal|volume=2|issue=2|doi=10.15406/icpjl.2016.02.00032}}</ref><ref name=":11">{{Cite journal|last=Fs|first=Khan|date=2017|title=Pure Erythroid Leukemia: The Sole Acute Erythroid Leukemia|url=https://www.heighpubs.org/hbmr/ijbmr-aid1001.php|journal=International Journal of Bone Marrow Research|volume=1|issue=1|pages=001–005|doi=10.29328/journal.ijbmr.1001001}}</ref>. PEL is a distinct entity in the World Health Organization (WHO) classification system within the section of [[HAEM4:Acute Myeloid Leukemia (AML), Not Otherwise Specified]].  PEL is a rare form of acute leukemia with an aggressive clinical course and is characterized by an uncontrolled proliferation of immature erythroid precursors (proerythroblastic or undifferentiated)<ref name=":0" /><ref name=":1" /><ref name=":2" /><ref name=":3" /><ref name=":4" /><ref name=":5" /><ref name=":6" /><ref name=":7" /><ref name=":8" /><ref name=":9" /><ref name=":10" /><ref name=":11" />.
-==Synonyms / Terminology==
-Also known as AML-M6b and Di Guglielmo syndrome due to the recognition of the work of Di Guglielmo<ref name=":0" /><ref name=":1" />.
-==Epidemiology / Prevalence==
-PEL is extremely rare with a small number of reported cases, accounting for 3-5% of AML cases<ref name=":0" /><ref name=":1" /><ref name=":9" />. Median survival is usually three months<ref name=":11" />.
-==Clinical Features==
-Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
-{| class="wikitable"
-|'''Signs and Symptoms'''
-|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
-<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
-<span class="blue-text">EXAMPLE:</span> Fatigue
-<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
-|-
-|'''Laboratory Findings'''
-|<span class="blue-text">EXAMPLE:</span> Cytopenias
-<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
-|}
-<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote>
-PEL has an aggressive clinical course with neoplastic proliferation of immature erythroid precursor (proerythroblastic or undifferentiated) cells. Average survival rate is three months<ref name=":0" /><ref name=":9" />. PEL is characterized by neoplastic proliferation composed of >80% immature erythroid precursors of which proerythroblasts constitute ≥30%<ref name=":11" />. Clinical features include profound anemia, circulating erythroblasts, pancytopenia, extensive bone marrow involvement, fatigue, infections, weight loss, fever, night sweats, hemoglobin level under 10.0 g/dL, and thrombocytopenia<ref name=":0" /><ref name=":9" />.
-<blockquote class="blockedit">
-<center><span style="color:Maroon">'''End of V4 Section'''</span>
-----
-</blockquote>
-==Sites of Involvement==
-Bone marrow, Blood
-==Morphologic Features==
-PEL is characterized by medium to large erythroblasts with round nuclei, fine chromatin and one or more nucleoli (proerythroblast). Cytoplasm is deeply basophilic, often granular with demarcated vacuoles and are often Periodic-Acid-Schiff stain (PAS) positive. Blasts can be small and may resemble lymphoblasts<ref name=":0" />. Cells are usually negative for Myeloperoxidase (MPO) and Sudan Black (SBB).  Bone marrow biopsy may have undifferentiated cells<ref name=":0" />.
-==Immunophenotype==
-Differentiated PEL may express Glycophorin and hemoglobin A, absence of myeloperoxidase (MPO) and other myeloid markers<ref name=":0" />.  Blasts are negative for HLA-Dr and CD34 but positive for CD117<ref name=":0" />. Immature forms can be negative for Glycophorin or weekly expressed. Positive for Carbonic anhydrase 1, Gero antobody against the Gerbich blood group or CD36 especially at earlier stages of differentiation. CD41 and CD61 are negative<ref name=":0" /><ref name=":11" />.
-{| class="wikitable sortable"
-|-
-!Finding!!Marker
-|-
-|Positive (universal)||Hemoglobin A, Glycophorin A, Spectrin, ABH blood group antigens, and HLA-DR
-|-
-|Positive (subset)||CD13, CD33, CD34, CD117 (KIT), and MPO, Gerbich blood group (Gero) antibody, carbonic anhydrase 1, and CD36, CD41 and CD61
-|-
-|Negative (universal)||Myeloid-associated markers such as MPO,CD13,CD33,CD61, B and T Cell markers -CD10, CD19, CD79a, CD2, CD3, CD5,  monocytic markers CD11c CD14
-Megakaryoblastic markers: CD61, Others: CD34, anti-kappa, anti-lambda, CD45
-|-
-|Negative (subset)||HLA-DR, CD34, Glycophorin A
 |}
@@ Line 193: / Line 128: @@
 |}
-<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>
+<blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>
-The genetic abnormalities that have been identified in PEL are similar to that of AML and MDS and consists of complex chromosomal abnormalities including -5/del(5q), -7/del(7q), +8 and/or RUNX1 and TP53 mutations<ref name=":0" />. Rearrangement of NFIA-CBFA2T3 with t(1;16)(p31;q24) and MYND8-RELA with t(11;20)(p11;q11) have been reported in rare cases<ref name=":9" />. A complex karyotype with 46,XY,der(5)del(5)(p15.1p15.1)t(5;12;7)(p15.1;p13;q32),der(7)t(5;12;7),der(12)del(12)p13p13)t(5;12;7),del(13)(q12q14) was reported in a two year old boy with PEL<ref name=":10" />.
+The genetic abnormalities that have been identified in PEL are similar to that of AML and MDS and consists of complex chromosomal abnormalities including -5/del(5q), -7/del(7q), +8 and/or RUNX1 and TP53 mutations<ref name=":0">Arber DA, et al., (2008). World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p135-136.</ref>. Rearrangement of NFIA-CBFA2T3 with t(1;16)(p31;q24) and MYND8-RELA with t(11;20)(p11;q11) have been reported in rare cases<ref name=":9">{{Cite journal|last=Wang|first=Wei|last2=Wang|first2=Sa A.|last3=Medeiros|first3=L. Jeffrey|last4=Khoury|first4=Joseph D.|date=2017|title=Pure erythroid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/28006859|journal=American Journal of Hematology|volume=92|issue=3|pages=292–296|doi=10.1002/ajh.24626|issn=1096-8652|pmid=28006859}}</ref>. A complex karyotype with 46,XY,der(5)del(5)(p15.1p15.1)t(5;12;7)(p15.1;p13;q32),der(7)t(5;12;7),der(12)del(12)p13p13)t(5;12;7),del(13)(q12q14) was reported in a two year old boy with PEL<ref name=":10">{{Cite journal|last=A|first=Yenamandra|date=2016|title=Acute Erythroblastic Leukemia (AEL): A Rare Subset of De Novo AML with A Complex Rearrangement Involving ETV6 Locus and Loss of RB1 Locus|url=https://medcraveonline.com/ICPJL/acute-erythroblastic-leukemia-ael-a-rare-subset-of-de-novo-aml-with-a-complex-rearrangement-involving-etv6-locus-and-loss-of-rb1-locus.html|journal=International Clinical Pathology Journal|volume=2|issue=2|doi=10.15406/icpjl.2016.02.00032}}</ref>.
 [[File:pic-1.png|frame|center| Karyotype of two year old boy with PEL<ref name=":10" />.]]
@@ Line 222: / Line 157: @@
-<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
+<blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
 * Chromosomal Rearrangements (Gene Fusions)
 * Individual Region Genomic Gain/Loss/LOH
@@ Line 228: / Line 163: @@
 * Gene Mutations (SNV/INDEL)}}</blockquote>
-PEL has rapid and aggressive clinical course. Patients with PEL are treated similar to other types of AML. Stem cell transplantation (SCT) may have an improvement in the outcome of the disease. No therapeutic agents for specific target pathways are currently available<ref name=":2" />.
+PEL has rapid and aggressive clinical course. Patients with PEL are treated similar to other types of AML. Stem cell transplantation (SCT) may have an improvement in the outcome of the disease. No therapeutic agents for specific target pathways are currently available<ref name=":2">{{Cite journal|last=Zuo|first=Zhuang|last2=Polski|first2=Jacek M.|last3=Kasyan|first3=Armen|last4=Medeiros|first4=L. Jeffrey|date=2010|title=Acute erythroid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/20807044|journal=Archives of Pathology & Laboratory Medicine|volume=134|issue=9|pages=1261–1270|doi=10.1043/2009-0350-RA.1|issn=1543-2165|pmid=20807044}}</ref>.
 <blockquote class="blockedit">
@@ Line 290: / Line 225: @@
 |}
-<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>
+<blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>
 Not Applicable
@@ Line 350: / Line 285: @@
 |}
-<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>
+<blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>
@@ Line 405: / Line 340: @@
 |}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
-<blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote>
+<blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote>
-JAK2, FLT3, RAS, NPM1, and CEBPA mutations have been reported to be rare in PEL<ref name=":9" /><ref name=":10" /><ref name=":11" />.  Intraclonal heterogeneity and founder mutations of TP53 were reported in 92% (11 out of 12 cases) while  co-occurrence of TP53 mutation and deletion due to chromosome 17p abnormalities were detected in 73% of PEL cases<ref>{{Cite journal|last=Montalban-Bravo|first=Guillermo|last2=Benton|first2=Christopher B.|last3=Wang|first3=Sa A.|last4=Ravandi|first4=Farhad|last5=Kadia|first5=Tapan|last6=Cortes|first6=Jorge|last7=Daver|first7=Naval|last8=Takahashi|first8=Koichi|last9=DiNardo|first9=Courtney|date=2017|title=More than 1 TP53 abnormality is a dominant characteristic of pure erythroid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/28246192|journal=Blood|volume=129|issue=18|pages=2584–2587|doi=10.1182/blood-2016-11-749903|issn=1528-0020|pmc=5418636|pmid=28246192}}</ref>.
+JAK2, FLT3, RAS, NPM1, and CEBPA mutations have been reported to be rare in PEL<ref name=":9" /><ref name=":10" /><ref name=":11">{{Cite journal|last=Fs|first=Khan|date=2017|title=Pure Erythroid Leukemia: The Sole Acute Erythroid Leukemia|url=https://www.heighpubs.org/hbmr/ijbmr-aid1001.php|journal=International Journal of Bone Marrow Research|volume=1|issue=1|pages=001–005|doi=10.29328/journal.ijbmr.1001001}}</ref>.  Intraclonal heterogeneity and founder mutations of TP53 were reported in 92% (11 out of 12 cases) while  co-occurrence of TP53 mutation and deletion due to chromosome 17p abnormalities were detected in 73% of PEL cases<ref>{{Cite journal|last=Montalban-Bravo|first=Guillermo|last2=Benton|first2=Christopher B.|last3=Wang|first3=Sa A.|last4=Ravandi|first4=Farhad|last5=Kadia|first5=Tapan|last6=Cortes|first6=Jorge|last7=Daver|first7=Naval|last8=Takahashi|first8=Koichi|last9=DiNardo|first9=Courtney|date=2017|title=More than 1 TP53 abnormality is a dominant characteristic of pure erythroid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/28246192|journal=Blood|volume=129|issue=18|pages=2584–2587|doi=10.1182/blood-2016-11-749903|issn=1528-0020|pmc=5418636|pmid=28246192}}</ref>.
 {| class="wikitable sortable"
@@ Line 461: / Line 396: @@
 |}
-<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote>
+<blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote>
 The molecular mechanism is not completely understood.
@@ Line 488: / Line 423: @@
 (use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />
-'''
+<br />
 ==Notes==
@@ Line 497: / Line 432: @@
 <nowiki>*</nowiki>''Citation of this Page'': “Acute erythroid leukaemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Acute_erythroid_leukaemia</nowiki>.
-[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases A]]
+[[Category:HAEM5]]
+[[Category:DISEASE]]
+[[Category:Diseases A]]

HAEM5:Acute erythroid leukaemia: Difference between revisions

Revision as of 09:00, 11 February 2025

Primary Author(s)*

WHO Classification of Disease

WHO Essential and Desirable Genetic Diagnostic Criteria

Related Terminology

Gene Rearrangements

Individual Region Genomic Gain/Loss/LOH

Characteristic Chromosomal or Other Global Mutational Patterns

Gene Mutations (SNV/INDEL)

Other Mutations

Epigenomic Alterations

Genes and Main Pathways Involved

Genetic Diagnostic Testing Methods

Familial Forms

Additional Information

Links

References

Notes

Navigation menu

Search