HAEM5:Acute erythroid leukaemia: Difference between revisions
Bailey.Glen (talk | contribs) No edit summary |
Bailey.Glen (talk | contribs) Undo revision 14800 by Bailey.Glen (talk) Tag: Undo |
||
| Line 1: | Line 1: | ||
{{DISPLAYTITLE:Acute erythroid leukaemia}} | {{DISPLAYTITLE:Acute erythroid leukaemia}} | ||
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours ( | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]] | ||
{{Under Construction}} | {{Under Construction}} | ||
| Line 9: | Line 9: | ||
}}</blockquote> | }}</blockquote> | ||
<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ 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) | <span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ 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). 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 </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span> | ||
==Primary Author(s)*== | ==Primary Author(s)*== | ||
| Line 39: | Line 39: | ||
==Clinical Features== | ==Clinical Features== | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table | Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span> | ||
{| class="wikitable" | {| class="wikitable" | ||
|'''Signs and Symptoms''' | |'''Signs and Symptoms''' | ||
| | |EXAMPLE Asymptomatic (incidental finding on complete blood counts) | ||
EXAMPLE B-symptoms (weight loss, fever, night sweats) | |||
EXAMPLE Fatigue | |||
EXAMPLE Lymphadenopathy (uncommon) | |||
|- | |- | ||
|'''Laboratory Findings''' | |'''Laboratory Findings''' | ||
| | |EXAMPLE Cytopenias | ||
EXAMPLE Lymphocytosis (low level) | |||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title= | <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}} | ||
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" />. | 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" />. | ||
| Line 100: | Line 100: | ||
!Notes | !Notes | ||
|- | |- | ||
| | |EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC) | ||
EXAMPLE 30% (add reference) | |||
|Yes | |Yes | ||
|No | |No | ||
|Yes | |Yes | ||
| | |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). | 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). | ||
| Line 111: | Line 111: | ||
<blockquote class='blockedit'>{{Box-round|title= | <blockquote class='blockedit'>{{Box-round|title=v4: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<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" />. 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" />. | ||
| Line 137: | Line 137: | ||
<blockquote class='blockedit'>{{Box-round|title= | <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) | * Chromosomal Rearrangements (Gene Fusions) | ||
* Individual Region Genomic Gain/Loss/LOH | * Individual Region Genomic Gain/Loss/LOH | ||
| Line 148: | Line 148: | ||
==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain / Loss / LOH== | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.'') </span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
| Line 158: | Line 158: | ||
!Notes | !Notes | ||
|- | |- | ||
| | |EXAMPLE | ||
7 | 7 | ||
| | |EXAMPLE Loss | ||
| | |EXAMPLE | ||
chr7:1- 159,335,973 [hg38] | chr7:1- 159,335,973 [hg38] | ||
| | |EXAMPLE | ||
chr7 | chr7 | ||
| Line 171: | Line 171: | ||
|Yes | |Yes | ||
|No | |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 reference). | 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 reference). | ||
|- | |- | ||
| | |EXAMPLE | ||
8 | 8 | ||
| | |EXAMPLE Gain | ||
| | |EXAMPLE | ||
chr8:1-145,138,636 [hg38] | chr8:1-145,138,636 [hg38] | ||
| | |EXAMPLE | ||
chr8 | chr8 | ||
| Line 188: | Line 188: | ||
|No | |No | ||
|No | |No | ||
| | |EXAMPLE | ||
Common recurrent secondary finding for t(8;21) (add reference). | Common recurrent secondary finding for t(8;21) (add reference). | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title= | <blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}} | ||
Not Applicable | Not Applicable | ||
| Line 214: | Line 214: | ||
==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: 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 | Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: 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'')</span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
| Line 224: | Line 224: | ||
!Notes | !Notes | ||
|- | |- | ||
| | |EXAMPLE | ||
Co-deletion of 1p and 18q | Co-deletion of 1p and 18q | ||
| Line 230: | Line 230: | ||
|No | |No | ||
|No | |No | ||
| | |EXAMPLE: | ||
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title= | <blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}} | ||
| Line 241: | Line 241: | ||
==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV / INDEL)== | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references 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.'') </span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
| Line 251: | Line 251: | ||
!Notes | !Notes | ||
|- | |- | ||
| | |EXAMPLE: TP53; Variable LOF mutations | ||
EXAMPLE: | |||
EGFR; Exon 20 mutations | EGFR; Exon 20 mutations | ||
EXAMPLE: BRAF; Activating mutations | |||
| | |EXAMPLE: TSG | ||
| | |EXAMPLE: 20% (COSMIC) | ||
EXAMPLE: 30% (add Reference) | |||
| | |EXAMPLE: IDH1 R123H | ||
| | |EXAMPLE: EGFR amplification | ||
| | | | ||
| | | | ||
| | | | ||
| | |EXAMPLE: Excludes hairy cell leukemia (HCL) (add reference). | ||
<br /> | <br /> | ||
|} | |} | ||
| Line 273: | Line 273: | ||
<blockquote class='blockedit'>{{Box-round|title= | <blockquote class='blockedit'>{{Box-round|title=v4: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<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" />. 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>. | ||
| Line 281: | Line 281: | ||
!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other) | !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% | ||
|} | |} | ||
| Line 289: | Line 289: | ||
!Type!!Gene/Region/Other | !Type!!Gene/Region/Other | ||
|- | |- | ||
|Concomitant Mutations|| | |Concomitant Mutations||EXAMPLE IDH1 R123H | ||
|- | |- | ||
|Secondary Mutations|| | |Secondary Mutations||EXAMPLE Trisomy 7 | ||
|- | |- | ||
|Mutually Exclusive|| | |Mutually Exclusive||EXAMPLE EGFR Amplification | ||
|} | |} | ||
| Line 303: | Line 303: | ||
==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table.'')</span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | !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 | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title= | <blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}} | ||
The molecular mechanism is not completely understood. | The molecular mechanism is not completely understood. | ||