Compendium of Cancer Genome Aberrations

Anaplastic Large Cell Lymphoma (ALK+/ALK−): Difference between revisions

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==Primary Author(s)*==
==Primary Author(s)*==
Put your text here
Jennie Thurston, PhD., FACMGG
==WHO Classification of Disease<ref name=":0">Li, W. The 5th Edition of the World Health Organization Classification of Hematolymphoid Tumors. In Leukemia; Weijie, L., Ed.; Exon Publications: Brisbane, Australia, 2022; pp. 1–21, <nowiki>ISBN 978-0-645-33207-0</nowiki>.</ref>==
==WHO Classification of Disease<ref name=":0">Deckert, M, Ferry, JA, Paulus, W, et al. Anaplastic large cell lymphoma (ALK+/ALK−). In: WHO Classification of Tumours Editorial Board. Central nervous system tumours [Internet]. Lyon (France): International Agency for Research on Cancer; 2021 [cited 2025 02 2]. (WHO classification of tumours series, 5th ed.; vol. 6). Available from: <nowiki>https://tumourclassification.iarc.who.int/chapters/45</nowiki>.</ref>==
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==Definition / Description of Disease==
==Definition / Description of Disease==
Primary central nervous system lymphoma (PCNSL) represents approximately 4% of all primary brain tumors and 1% to 2% of non-Hodgkin lymphoma.<ref>Villano JL, Koshy M, Shaikh H, et al. Age, gender, and racial differences in incidence and survival in primary CNS lymphoma. Br J Cancer. 2011;105:1414-1418.</ref> PCNSL is defined as a lymphoma confined to the brain, spinal cord, and/or eye. Diffuse large B-cell lymphomas make up more than 95% of PCNSL cases.<ref>Camilleri-Broët S, Martin A, Moreau A, et al. Primary central nervous system lymphomas in 72 immunocompetent patients: pathologic findings and clinical correlations. Am J Clin Pathol. 1998;110:607-612.</ref> Anaplastic large cell lymphoma (ALCL) is a distinctive CD30-positive peripheral T-cell lymphoma that is rare in the CNS and is separated into two distinct types: ALK-positive (ALK+ ALCL) and ALK-negative (ALK− ALCL).<ref name=":0" /><ref name=":2">ALK-negative anaplastic large cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 12/13/2023, <nowiki>https://ccga.io/index.php/HAEM5:ALK-negative_anaplastic_large_cell_lymphoma</nowiki>.</ref><ref name=":3">ALK-positive anaplastic large cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 12/13/2023, <nowiki>https://ccga.io/index.php/HAEM5:ALK-positive_anaplastic_large_cell_lymphoma</nowiki>.</ref>
Primary central nervous system lymphoma (PCNSL) represents approximately 4% of all primary brain tumors and 1% to 2% of non-Hodgkin lymphoma.<ref>Villano JL, Koshy M, Shaikh H, et al. Age, gender, and racial differences in incidence and survival in primary CNS lymphoma. Br J Cancer. 2011;105:1414-1418.</ref> PCNSL is defined as a lymphoma confined to the brain, spinal cord, and/or eye. Diffuse large B-cell lymphomas make up more than 95% of PCNSL cases.<ref>Camilleri-Broët S, Martin A, Moreau A, et al. Primary central nervous system lymphomas in 72 immunocompetent patients: pathologic findings and clinical correlations. Am J Clin Pathol. 1998;110:607-612.</ref> Anaplastic large cell lymphoma (ALCL) is a distinctive CD30-positive peripheral T-cell lymphoma that is rare in the CNS and is separated into two distinct types: ALK-positive (ALK+ ALCL) and ALK-negative (ALK− ALCL).<ref name=":0" /><ref name=":2">ALK-negative anaplastic large cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 12/13/2023, <nowiki>https://ccga.io/index.php/HAEM5:ALK-negative_anaplastic_large_cell_lymphoma</nowiki>.</ref><ref name=":3">ALK-positive anaplastic large cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 12/13/2023, <nowiki>https://ccga.io/index.php/HAEM5:ALK-positive_anaplastic_large_cell_lymphoma</nowiki>.</ref>  ALK+ ALCL occurs as single or multiple supratentorial parenchymal lesions.<ref name=":0" />  
==Synonyms / Terminology==
==Synonyms / Terminology==
None
None
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|'''Signs and Symptoms'''
|'''Signs and Symptoms'''
|Headache, seizures, nausea, fever, or a combination
|weight loss, headache, seizures, nausea, fever, or a combination
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|'''Laboratory Findings'''
|'''Laboratory Findings'''
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The cerebrospinal fluid may be involved. The large atypical neoplastic cells may have cytoplasmic azurophilic granules<ref name=":0" />
The cerebrospinal fluid may be involved. The large atypical neoplastic cells may have cytoplasmic azurophilic granules<ref name=":0" />
==Immunophenotype==
==Immunophenotype==
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!Notes
!Notes
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|EXAMPLE
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7
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|EXAMPLE Loss
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|EXAMPLE
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chr7:1- 159,335,973 [hg38]
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|EXAMPLE
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chr7
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|Yes
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|Yes
|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).
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|EXAMPLE
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8
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|EXAMPLE Gain
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|EXAMPLE
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chr8:1-145,138,636 [hg38]
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|EXAMPLE
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chr8
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|No
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|No
|No
|EXAMPLE
Common recurrent secondary finding for t(8;21) (add reference).
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==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal Patterns==
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!Notes
!Notes
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|EXAMPLE: TP53; Variable LOF mutations
EXAMPLE:
EGFR; Exon 20 mutations
EXAMPLE: BRAF; Activating mutations
|EXAMPLE: TSG
|EXAMPLE: 20% (COSMIC)
EXAMPLE: 30% (add Reference)
|EXAMPLE: IDH1 R123H
|EXAMPLE: EGFR amplification
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|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
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|}Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) 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 cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
==Epigenomic Alterations==
==Epigenomic Alterations==
Put your text here
<br />
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
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Put your text here and fill in the table
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
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|-
|EXAMPLE: BRAF and MAP2K1; Activating mutations
|ALK; Gene fusions resulting in overexpression
|EXAMPLE: MAPK signaling
|Activation of JAK/STAT3 signaling pathway
|EXAMPLE: Increased cell growth and proliferation
|Increased cell growth and proliferation
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|EXAMPLE: CDKN2A; Inactivating mutations
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|EXAMPLE: Cell cycle regulation
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|EXAMPLE: Unregulated cell division
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|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
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|EXAMPLE:  Histone modification, chromatin remodeling
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|EXAMPLE:  Abnormal gene expression program
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==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
FISH w/ ALK BA probe
IHC, FISH, and RT-PCR
==Familial Forms==
==Familial Forms==
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None
==Additional Information==
==Additional Information==
Put your text here
<br />
==Links==
==Links==
Put your text placeholder here (use "Link" icon at top of page)
<br />
==References==
==References==
<references />(use "Cite" icon at top of page)
<references /><ref name=":0" />
 
(use "Cite" icon at top of page)
==Notes==
==Notes==
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
<references />
Retrieved from "https://test.ccga.io/index.php/Anaplastic_Large_Cell_Lymphoma_(ALK%2B/ALK−)"