Compendium of Cancer Genome Aberrations

HAEM5:Juvenile myelomonocytic leukaemia: Difference between revisions

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{{Under Construction}}
{{Under Construction}}


<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|This page was converted to the new template on 2023-11-03. The original page can be found at [[HAEM4:Juvenile Myelomonocytic Leukemia (JMML)]].
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|This page was converted to the new template on 2023-11-30. The original page can be found at [[HAEM4:Juvenile Myelomonocytic Leukemia (JMML)]].
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==Primary Author(s)*==
==Primary Author(s)*==
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__TOC__
__TOC__


==Cancer Category/Type==
==Cancer Category / Type==


Myeloproliferative neoplasm
Myeloproliferative neoplasm
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==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.'') </span>
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>
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<br />
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==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 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>
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>
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==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==


Put your text here


*Clinical and hematologic features:
**Peripheral blood monocyte count <u>></u> 1 x 10<sup>9</sup>/L (present in most cases)
**Splenomegaly (present in >95 % cases at presentation)
**Blast percentage in peripheral blood and bone marrow < 20%
**Absence of ''BCR::ABL1''
*Genetic studies (one finding required):
**Somatic mutation in ''PTPN11, KRAS, NRAS,'' or ''RRAS''
**Germline ''NF1'' mutation and loss of heterozygosity of ''NF1'' or clinical diagnosis of neurofibromatosis type 1
**Germline ''CBL'' mutation and loss of heterozygosity of ''CBL''
<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}<ref>{{Cite journal|last=Arber|first=Daniel A.|last2=Orazi|first2=Attilio|last3=Hasserjian|first3=Robert P.|last4=Borowitz|first4=Michael J.|last5=Calvo|first5=Katherine R.|last6=Kvasnicka|first6=Hans-Michael|last7=Wang|first7=Sa A.|last8=Bagg|first8=Adam|last9=Barbui|first9=Tiziano|date=2022-09-15|title=International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data|url=https://pubmed.ncbi.nlm.nih.gov/35767897|journal=Blood|volume=140|issue=11|pages=1200–1228|doi=10.1182/blood.2022015850|issn=1528-0020|pmc=9479031|pmid=35767897}}</ref></blockquote>
==Familial Forms==
==Familial Forms==


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<nowiki>*</nowiki>''Citation of this Page'': “Juvenile myelomonocytic leukaemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Juvenile_myelomonocytic_leukaemia</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Juvenile myelomonocytic leukaemia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Juvenile_myelomonocytic_leukaemia</nowiki>.
==Other Sections==
==Other Sections==
Diagnostic Testing Method
*Clinical and hematologic features:
**Peripheral blood monocyte count <u>></u> 1 x 10<sup>9</sup>/L (present in most cases)
**Splenomegaly (present in >95 % cases at presentation)
**Blast percentage in peripheral blood and bone marrow < 20%
**Absence of ''BCR::ABL1''
*Genetic studies (one finding required):
**Somatic mutation in ''PTPN11, KRAS, NRAS,'' or ''RRAS''
**Germline ''NF1'' mutation and loss of heterozygosity of ''NF1'' or clinical diagnosis of neurofibromatosis type 1
**Germline ''CBL'' mutation and loss of heterozygosity of ''CBL''
<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}<ref>{{Cite journal|last=Arber|first=Daniel A.|last2=Orazi|first2=Attilio|last3=Hasserjian|first3=Robert P.|last4=Borowitz|first4=Michael J.|last5=Calvo|first5=Katherine R.|last6=Kvasnicka|first6=Hans-Michael|last7=Wang|first7=Sa A.|last8=Bagg|first8=Adam|last9=Barbui|first9=Tiziano|date=2022-09-15|title=International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data|url=https://pubmed.ncbi.nlm.nih.gov/35767897|journal=Blood|volume=140|issue=11|pages=1200–1228|doi=10.1182/blood.2022015850|issn=1528-0020|pmc=9479031|pmid=35767897}}</ref></blockquote>
Genetic Susceptibility
Genetic Susceptibility


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