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| {{DISPLAYTITLE:Myelodysplastic neoplasm with increased blasts}} | | {{DISPLAYTITLE:Myelodysplastic neoplasm with increased blasts}} |
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| [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] |
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| {{Under Construction}} | | {{Under Construction}} |
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| <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:Myelodysplastic Syndrome (MDS) with Excess Blasts]]. | | <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:Myelodysplastic Syndrome (MDS) with Excess Blasts]]. |
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| |Subtype(s) | | |Subtype(s) |
| |Myelodysplastic neoplasm with increased blasts | | |Myelodysplastic neoplasm with increased blasts |
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| ==Definition / Description of Disease==
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| Myelodysplastic syndrome (MDS) with excess blasts (EB) is a category of MDS characterized by <20% blasts in both peripheral blood and bone marrow. MDS-EB type 1 (MDS-EB-1) is classified as <5% blasts in the blood and <10% blasts in the bone marrow. MDS-EB type 2 (MDS-EB-2) is classified as 5-19% blasts in the blood and 10-19% blasts in the bone marrow with the presence of Auer rods<ref>{{Cite journal|last=Greenberg|first=P.|last2=Cox|first2=C.|last3=LeBeau|first3=M. M.|last4=Fenaux|first4=P.|last5=Morel|first5=P.|last6=Sanz|first6=G.|last7=Sanz|first7=M.|last8=Vallespi|first8=T.|last9=Hamblin|first9=T.|date=1997-03-15|title=International scoring system for evaluating prognosis in myelodysplastic syndromes|url=https://pubmed.ncbi.nlm.nih.gov/9058730|journal=Blood|volume=89|issue=6|pages=2079–2088|issn=0006-4971|pmid=9058730}}</ref><ref>{{Cite journal|last=Germing|first=Ulrich|last2=Strupp|first2=Corinna|last3=Kuendgen|first3=Andrea|last4=Aivado|first4=Manuel|last5=Giagounidis|first5=Aristoteles|last6=Hildebrandt|first6=Barbara|last7=Aul|first7=Carlo|last8=Haas|first8=Rainer|last9=Gattermann|first9=Norbert|date=2006-01|title=Refractory anaemia with excess of blasts (RAEB): analysis of reclassification according to the WHO proposals|url=https://pubmed.ncbi.nlm.nih.gov/16398650|journal=British Journal of Haematology|volume=132|issue=2|pages=162–167|doi=10.1111/j.1365-2141.2005.05853.x|issn=0007-1048|pmid=16398650}}</ref>. The category of erythroid/myeloid-type acute erythroid leukemia in the 2008 WHO classification is now categorized as MDS-EB<ref name=":0">Arber DA, et al., (2016). WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, revised 4<sup>th</sup> edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J Editors. IARC Press: Lyon, France, p106-109.</ref>. In addition, the majority of myelodysplastic syndrome with marrow fibrosis (MDS-F) belongs to myelodysplastic syndrome with excess blasts and fibrosis (MDS-EB-F)<ref>{{Cite journal|last=Lambertenghi-Deliliers|first=G.|last2=Orazi|first2=A.|last3=Luksch|first3=R.|last4=Annaloro|first4=C.|last5=Soligo|first5=D.|date=1991-06|title=Myelodysplastic syndrome with increased marrow fibrosis: a distinct clinico-pathological entity|url=https://pubmed.ncbi.nlm.nih.gov/1712222|journal=British Journal of Haematology|volume=78|issue=2|pages=161–166|doi=10.1111/j.1365-2141.1991.tb04411.x|issn=0007-1048|pmid=1712222}}</ref><ref>{{Cite journal|last=Bae|first=E.|last2=Park|first2=C.-J.|last3=Cho|first3=Y.-U.|last4=Seo|first4=E.-J.|last5=Chi|first5=H.-S.|last6=Jang|first6=S.|last7=Lee|first7=K.-H.|last8=Lee|first8=J.-H.|last9=Lee|first9=J.-H.|date=2013-12|title=Differential diagnosis of myelofibrosis based on WHO 2008 criteria: acute panmyelosis with myelofibrosis, acute megakaryoblastic leukemia with myelofibrosis, primary myelofibrosis and myelodysplastic syndrome with myelofibrosis|url=https://pubmed.ncbi.nlm.nih.gov/23693053|journal=International Journal of Laboratory Hematology|volume=35|issue=6|pages=629–636|doi=10.1111/ijlh.12101|issn=1751-553X|pmid=23693053}}</ref><ref>{{Cite journal|last=Orazi|first=Attilio|date=2007|title=Histopathology in the diagnosis and classification of acute myeloid leukemia, myelodysplastic syndromes, and myelodysplastic/myeloproliferative diseases|url=https://pubmed.ncbi.nlm.nih.gov/17587881|journal=Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology|volume=74|issue=2|pages=97–114|doi=10.1159/000101709|issn=1015-2008|pmid=17587881}}</ref>.
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| ==Synonyms / Terminology==
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| Refractory anemia with excess blasts, erythroid/myeloid-type acute erythroid leukemia
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| ==Epidemiology / Prevalence==
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| MDS-EB accounts for 40% of all cases of MDS (Arber DA, et al., (2016).)
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| *Occurs mainly in patients aged greater than 50 years old
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| ==Clinical Features==
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| 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>
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| {| class="wikitable"
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| |'''Signs and Symptoms'''
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| |<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
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| <span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
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| <span class="blue-text">EXAMPLE:</span> Fatigue
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| <span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
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| |-
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| |'''Laboratory Findings'''
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| |<span class="blue-text">EXAMPLE:</span> Cytopenias
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| <span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
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| <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote>
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| The clinical features are often nonspecific and are generally related to the corresponding cytopenias such as anemia, thrombocytopenia and neutropenia. The recommended thresholds for cytopenia suggested by International Prognostic Scoring System (IPSS) (PMID: 22740453) include:
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| *Hemoglobin concentration: <10 g/dL
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| *Absolute neutrophil count: <1.8 x10<sup>9</sup>/L AND
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| *Platelet count: <100 x10<sup>9</sup>/L
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| <blockquote class="blockedit">
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| <center><span style="color:Maroon">'''End of V4 Section'''</span>
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| ----
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| </blockquote>
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| ==Sites of Involvement==
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| Peripheral blood and bone marrow
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| ==Morphologic Features==
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| The morphologic features of the peripheral blood and bone marrow are currently the gold standard for the diagnosis of MDS<ref name=":0" />.
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| {| class="wikitable"
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| !'''Categories'''
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| !'''Morphologic Features'''
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| |Blood
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| |Abnormalities in all three myeloid cell lines; blasts commonly present
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| | rowspan="3" |Bone marrow
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| *Often hypercellular
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| *Blasts aggregated
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| |Erythropoiesis: erythropoiesis increased, dyserythropoiesis: abnormally lobated nuclei, internuclear bridging
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| |-
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| |Granulopoiesis: dysplasia, nuclear hyposegmentation or hypersegmented nuclei or cytoplasmic hypogranularity
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| |-
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| |Dysmegakaryopoiesis: micromegakaryocytes often seen; multiple widely separated nuclei also can occur
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| |}
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| ==Immunophenotype==
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| Put your text here and/or fill in the table
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| {| class="wikitable sortable"
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| !Finding!!Marker
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| |'''Positive (universal)'''
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| |CD34 and/or KIT (CD117), CD38, HLA-DR and CD13 and/or CD33
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| |-
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| |'''Positive (subset)'''
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| |CD7 (20%), CD56 (10%)
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| |} | | |} |
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| |} | | |} |
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| <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> |
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| None | | None |
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| <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) | | * Chromosomal Rearrangements (Gene Fusions) |
| * Individual Region Genomic Gain/Loss/LOH | | * Individual Region Genomic Gain/Loss/LOH |
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| |} | | |} |
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| <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> |
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| *Nonspecific cytogenetic abnormalities have been observed in 30-50% of MDS-EB cases. | | *Nonspecific cytogenetic abnormalities have been observed in 30-50% of MDS-EB cases. |
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| |} | | |} |
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| <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> |
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| Gain of chromosome 8, del(5q) or t(5q), monosomy 7, del(7q), del(20q), complex karyotype | | Gain of chromosome 8, del(5q) or t(5q), monosomy 7, del(7q), del(20q), complex karyotype |
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| |}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. | | |}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. |
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| <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> |
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| Most frequent mutations: ''SRSF2, IDH1, IDH2, ASXL1, CBL, RUNX1, RAS'' | | Most frequent mutations: ''SRSF2, IDH1, IDH2, ASXL1, CBL, RUNX1, RAS'' |
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| |} | | |} |
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| <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> |
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| *''SRSF2'': involved in pre-mRNA splicing | | *''SRSF2'': involved in pre-mRNA splicing |
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| (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 /> | | (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 /> |
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| ==Notes== | | ==Notes== |
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| <nowiki>*</nowiki>''Citation of this Page'': “Myelodysplastic neoplasm with increased blasts”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myelodysplastic_neoplasm_with_increased_blasts</nowiki>. | | <nowiki>*</nowiki>''Citation of this Page'': “Myelodysplastic neoplasm with increased blasts”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myelodysplastic_neoplasm_with_increased_blasts</nowiki>. |
| [[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases M]] | | [[Category:HAEM5]] |
| | [[Category:DISEASE]] |
| | [[Category:Diseases M]] |
