HAEM5:Early T-precursor lymphoblastic leukaemia / lymphoma: Difference between revisions

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 ==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 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.'') </span>
+{| class="wikitable sortable"
+|-
+!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'''
+|-
+|<span class="blue-text">EXAMPLE:</span>''EGFR''
+<br />
+|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
+|<span class="blue-text">EXAMPLE:</span> Oncogene
+|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
+|<span class="blue-text">EXAMPLE:</span> T
+|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
+|<span class="blue-text">EXAMPLE:</span> 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).
+|-
+|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
+<br />
+|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
+|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
+|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
+|<span class="blue-text">EXAMPLE:</span> P
+|
+|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
+|-
+|<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
+|<span class="blue-text">EXAMPLE:</span> Activating mutations
+|<span class="blue-text">EXAMPLE:</span> Oncogene
+|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
+|<span class="blue-text">EXAMPLE:</span> T
+|
+|
+|-
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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.
 Genes encoding transcription factors for development and differentiation (''ETV6, GATA3, HOXA, LMO2, RUNX1, WT1''), kinase signaling (''FLT3, JAK1, JAK3, IL7R, KRAS, NRAS''), and epigenetic modifiers (''DNMT3A, EED, EZH2, PHF6, SUZ12'') are commonly mutated in ETP-ALL <ref name=":5">{{Cite journal|last=Sin|first=Chun-Fung|last2=Man|first2=Pui-Hei Marcus|date=2021|title=Early T-Cell Precursor Acute Lymphoblastic Leukemia: Diagnosis, Updates in Molecular Pathogenesis, Management, and Novel Therapies|url=https://pubmed.ncbi.nlm.nih.gov/34912707|journal=Frontiers in Oncology|volume=11|pages=750789|doi=10.3389/fonc.2021.750789|issn=2234-943X|pmc=8666570|pmid=34912707}}</ref>. More typical T-ALL mutations, such as ''NOTCH1'' mutations and CDKN1/2 mutations are less frequent in ETP-ALL <ref name=":2">{{Cite journal|last=Jain|first=Nitin|last2=Lamb|first2=Audrey V.|last3=O'Brien|first3=Susan|last4=Ravandi|first4=Farhad|last5=Konopleva|first5=Marina|last6=Jabbour|first6=Elias|last7=Zuo|first7=Zhuang|last8=Jorgensen|first8=Jeffrey|last9=Lin|first9=Pei|date=2016-04-14|title=Early T-cell precursor acute lymphoblastic leukemia/lymphoma (ETP-ALL/LBL) in adolescents and adults: a high-risk subtype|url=https://pubmed.ncbi.nlm.nih.gov/26747249|journal=Blood|volume=127|issue=15|pages=1863–1869|doi=10.1182/blood-2015-08-661702|issn=1528-0020|pmc=4915808|pmid=26747249}}</ref>.