HAEM5:Myelodysplastic neoplasm with increased blasts: Difference between revisions
| [checked revision] | [checked revision] |
Bailey.Glen (talk | contribs) No edit summary |
Bailey.Glen (talk | contribs) No edit summary |
||
| Line 72: | Line 72: | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
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: | 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: | ||
| Line 80: | Line 80: | ||
*Platelet count: <100 x10<sup>9</sup>/L | *Platelet count: <100 x10<sup>9</sup>/L | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Sites of Involvement== | ==Sites of Involvement== | ||
| Line 145: | Line 148: | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
None | None | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
| Line 155: | Line 161: | ||
* Individual Region Genomic Gain/Loss/LOH | * Individual Region Genomic Gain/Loss/LOH | ||
* Characteristic Chromosomal Patterns | * Characteristic Chromosomal Patterns | ||
* Gene Mutations (SNV/INDEL)}} | * Gene Mutations (SNV/INDEL)}}</blockquote> | ||
*Diagnosis: 2-19% blasts in peripheral blood or 5-19% myeloblasts in bone marrow | *Diagnosis: 2-19% blasts in peripheral blood or 5-19% myeloblasts in bone marrow | ||
| Line 161: | Line 167: | ||
*Therapeutic: Hematopoietic stem cell transplantation (HSCT) is the therapy of choice for MDS-EB in childhood with the best available donor<ref>{{Cite journal|last=Hasle|first=Henrik|date=2016-12-02|title=Myelodysplastic and myeloproliferative disorders of childhood|url=https://pubmed.ncbi.nlm.nih.gov/27913534|journal=Hematology. American Society of Hematology. Education Program|volume=2016|issue=1|pages=598–604|doi=10.1182/asheducation-2016.1.598|issn=1520-4383|pmc=6142519|pmid=27913534}}</ref>. Azacitidine, a DNA methyltransferase-inhibitor, has been reported to increase the overall survival for adult patients with high-risk MDS (MDS-REB) in comparison with conventional care<ref>{{Cite journal|last=Gore|first=Steven D.|last2=Fenaux|first2=Pierre|last3=Santini|first3=Valeria|last4=Bennett|first4=John M.|last5=Silverman|first5=Lewis R.|last6=Seymour|first6=John F.|last7=Hellström-Lindberg|first7=Eva|last8=Swern|first8=Arlene S.|last9=Beach|first9=Charles L.|date=2013-07|title=A multivariate analysis of the relationship between response and survival among patients with higher-risk myelodysplastic syndromes treated within azacitidine or conventional care regimens in the randomized AZA-001 trial|url=https://pubmed.ncbi.nlm.nih.gov/23585522|journal=Haematologica|volume=98|issue=7|pages=1067–1072|doi=10.3324/haematol.2012.074831|issn=1592-8721|pmc=3696610|pmid=23585522}}</ref>. | *Therapeutic: Hematopoietic stem cell transplantation (HSCT) is the therapy of choice for MDS-EB in childhood with the best available donor<ref>{{Cite journal|last=Hasle|first=Henrik|date=2016-12-02|title=Myelodysplastic and myeloproliferative disorders of childhood|url=https://pubmed.ncbi.nlm.nih.gov/27913534|journal=Hematology. American Society of Hematology. Education Program|volume=2016|issue=1|pages=598–604|doi=10.1182/asheducation-2016.1.598|issn=1520-4383|pmc=6142519|pmid=27913534}}</ref>. Azacitidine, a DNA methyltransferase-inhibitor, has been reported to increase the overall survival for adult patients with high-risk MDS (MDS-REB) in comparison with conventional care<ref>{{Cite journal|last=Gore|first=Steven D.|last2=Fenaux|first2=Pierre|last3=Santini|first3=Valeria|last4=Bennett|first4=John M.|last5=Silverman|first5=Lewis R.|last6=Seymour|first6=John F.|last7=Hellström-Lindberg|first7=Eva|last8=Swern|first8=Arlene S.|last9=Beach|first9=Charles L.|date=2013-07|title=A multivariate analysis of the relationship between response and survival among patients with higher-risk myelodysplastic syndromes treated within azacitidine or conventional care regimens in the randomized AZA-001 trial|url=https://pubmed.ncbi.nlm.nih.gov/23585522|journal=Haematologica|volume=98|issue=7|pages=1067–1072|doi=10.3324/haematol.2012.074831|issn=1592-8721|pmc=3696610|pmid=23585522}}</ref>. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain / Loss / LOH== | ||
| Line 209: | Line 218: | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
*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. | ||
*Gain of chromosome 8, del(5q) or t(5q), monosomy 7, del(7q), del(20q), complex karyotype<ref>{{Cite journal|last=Germing|first=Ulrich|last2=Strupp|first2=Corinna|last3=Kuendgen|first3=Andrea|last4=Isa|first4=Shadi|last5=Knipp|first5=Sabine|last6=Hildebrandt|first6=Barbara|last7=Giagounidis|first7=Aristoteles|last8=Aul|first8=Carlo|last9=Gattermann|first9=Norbert|date=2006-12|title=Prospective validation of the WHO proposals for the classification of myelodysplastic syndromes|url=https://pubmed.ncbi.nlm.nih.gov/17145595|journal=Haematologica|volume=91|issue=12|pages=1596–1604|issn=1592-8721|pmid=17145595}}</ref>. | *Gain of chromosome 8, del(5q) or t(5q), monosomy 7, del(7q), del(20q), complex karyotype<ref>{{Cite journal|last=Germing|first=Ulrich|last2=Strupp|first2=Corinna|last3=Kuendgen|first3=Andrea|last4=Isa|first4=Shadi|last5=Knipp|first5=Sabine|last6=Hildebrandt|first6=Barbara|last7=Giagounidis|first7=Aristoteles|last8=Aul|first8=Carlo|last9=Gattermann|first9=Norbert|date=2006-12|title=Prospective validation of the WHO proposals for the classification of myelodysplastic syndromes|url=https://pubmed.ncbi.nlm.nih.gov/17145595|journal=Haematologica|volume=91|issue=12|pages=1596–1604|issn=1592-8721|pmid=17145595}}</ref>. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
| Line 238: | Line 250: | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
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 | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV / INDEL)== | ||
| Line 277: | Line 292: | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
Most frequent mutations: ''SRSF2, IDH1, IDH2, ASXL1, CBL, RUNX1, RAS'' | Most frequent mutations: ''SRSF2, IDH1, IDH2, ASXL1, CBL, RUNX1, RAS'' | ||
| Line 283: | Line 298: | ||
None | None | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Epigenomic Alterations== | ==Epigenomic Alterations== | ||
| Line 308: | Line 326: | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
*''SRSF2'': involved in pre-mRNA splicing | *''SRSF2'': involved in pre-mRNA splicing | ||
| Line 317: | Line 335: | ||
*''RAS'': involved in RAS/MAPK pathway | *''RAS'': involved in RAS/MAPK pathway | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||