Compendium of Cancer Genome Aberrations

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

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==Primary Author(s)*==
==Primary Author(s)*==
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==Cancer Category/Type==
==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>==
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{| class="wikitable"
==Cancer Sub-Classification / Subtype==
|+
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!Structure
!Disease
|-
|Book
|WHO Classification of Tumours Central Nervous System Tumours (5th ed.)
|-
|Category
|Lymphomas
|-
|Family
|Miscellaneous rare lymphomas in CNS
|-
|Type
|Anaplastic Large Cell Lymphoma (ALK+/ALK-)
|-
|Subtype
|None
|}
==Definition / Description of Disease==
==Definition / Description of Disease==
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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>
==Synonyms / Terminology==
==Synonyms / Terminology==
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None
==Epidemiology / Prevalence==
==Epidemiology / Prevalence==
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ALK+ ALCL occurs from early childhood to young adulthood with a male preponderance.<ref name=":1">George, D.H.; Scheithauer, B.W.; Aker, F.V.; Kurtin, P.J.; Burger, P.C.; Cameselle-Teijeiro, J.; McLendon, R.E.; Parisi, J.E.; Paulus, W.; Roggendorf, W.; et al. Primary Anaplastic Large Cell Lymphoma of the Central Nervous System: Prognostic Effect of ALK-1 Expression. Am. J. Surg. Pathol. 2003, 27, 487–493</ref><ref name=":3" />
 
ALK− ALCL affects adults (median age: 65 years), also with a male preponderance.<ref name=":2" />
==Clinical Features==
==Clinical Features==
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{| class="wikitable"
{| class="wikitable"
|'''Signs and Symptoms'''
|'''Signs and Symptoms'''
|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
|Headache, seizures, nausea, fever, or a combination
EXAMPLE B-symptoms (weight loss, fever, night sweats)
 
EXAMPLE Fatigue
 
EXAMPLE Lymphadenopathy (uncommon)
|-
|-
|'''Laboratory Findings'''
|'''Laboratory Findings'''
|EXAMPLE Cytopenias
|None
EXAMPLE Lymphocytosis (low level)
|}
|}
==Sites of Involvement==
==Sites of Involvement==
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ALK+ ALCL occurs as single or multiple supratentorial parenchymal lesions with or without infratentorial involvement, and rarely with spinal cord involvement. Extension to involve the meninges and (rarely) the skull can occur.<ref>Karikari, I.O.; Thomas, K.K.; Lagoo, A.; Cummings, T.J.; George, T.M. Primary Cerebral ALK-1-Positive Anaplastic Large Cell Lymphoma in a Child. Pediatr. Neurosurg. 2007, 43, 516–521. [CrossRef] [PubMed]</ref><ref name=":0" />
 
ALK− ALCL occurs as single or multiple lesions, usually supratentorial<ref name=":0" />
==Morphologic Features==
==Morphologic Features==
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ALK+ ALCL shows a diffuse proliferation of large atypical cells with abundant cytoplasm, including hallmark cells with bean-shaped nuclei and an eosinophilic paranuclear area<ref>Jaffe ES. Anaplastic large cell lymphoma: the shifting sands of diagnostic hematopathology. Modern Pathol. 2001;14:219-228.</ref>
 
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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!Finding!!Marker
!Finding!!Marker
|-
|-
|Positive (universal)||EXAMPLE CD1
|Positive (universal)||CD30+, ALK+, and EMA+, may express one or more T-cell antigens<ref>Kadin ME. Primary Ki-1-positive anaplastic large-cell lymphoma: a distinct clinicopathologic entity. Ann Oncol. 1994;5:S25-S30.</ref>
|-
|Positive (subset)||EXAMPLE CD2
|-
|Negative (universal)||EXAMPLE CD3
|-
|Negative (subset)||EXAMPLE CD4
|}
|}
==Chromosomal Rearrangements (Gene Fusions)==
==Chromosomal Rearrangements (Gene Fusions) ALK+ ALCL==
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{| class="wikitable sortable"
{| class="wikitable sortable"
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!Notes
!Notes
|-
|-
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
|t(2;5)(p23;q35)||''NPM1''::''ALK'' fusion
EXAMPLE 30% (add reference)
|5' NPM1::3' ALK on der(5). constitutive activation of the catalytic domain of ALK.  Kinase function activated by oligomerization of NPM1::ALK mediated by the NPM1 portion<ref>Geetha, N.; Sreelesh, K.P.; Nair, R.; Mathews, A. Anaplastic large cell lymphoma presenting as a cerebellar mass. Hematol. Oncol. Stem Cell Ther. 2014, 7, 157–161. </ref><ref>Benharroch D, Meguerian-Bedoyan Z, Lamant L, et al. ALK-positive lymphoma: a single disease with a broad spectrum of morphology. Blood. 1998;91:2076-2084.</ref>||30 to 50% of ALCL<ref name=":0" />
(COSF198)
(<ref>John G Tate, Sally Bamford, Harry C Jubb, Zbyslaw Sondka, David M Beare, Nidhi Bindal, Harry Boutselakis, Charlotte G Cole, Celestino Creatore, Elisabeth Dawson, Peter Fish, Bhavana Harsha, Charlie Hathaway, Steve C Jupe, Chai Yin Kok, Kate Noble, Laura Ponting, Christopher C Ramshaw, Claire E Rye, Helen E Speedy, Ray Stefancsik, Sam L Thompson, Shicai Wang, Sari Ward, Peter J Campbell, Simon A Forbes, COSMIC: the Catalogue Of Somatic Mutations In Cancer, ''Nucleic Acids Research'', Volume 47, Issue D1, 08 January 2019, Pages D941–D947,</ref>)
|Yes
|Yes
|Yes
|No
|Yes
|Yes
|EXAMPLE
|Localized in both cytoplasm and nucleus.<ref name=":0" />
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
 
 
In translocations other than the t(2;5), i.e. in t(2;Var) involving various partners and ALK, the fusion protein has a cytoplasmic localization; they are therefore called "cytoplasm only" ALK+ ALCL.<ref name=":0" />
|-
|t(X;2)(q11;p23)
|
|5'MSN:: 3'ALK
|very rare, one case reported
|
|
|
|For the t(X;2) translocation, localization is restricted to the membrane.<ref name=":0" />
|-
|t(1;2)(q25;p23)
|
|5'TPM3::3'ALK
|rare, four cases reported
|
|
|
|TPM3::ALK is constitutively activated<ref name=":0" />
|-
|inv(2)(p23q35)
|
|5'ATIC::3'ALK
|rare
|
|
|
|ider(2)(q10)inv(2) has been found in some cases, carrying 2 additional copies of the ATIC::ALK hybrid gene; frequent complex karyotypes<ref name=":0" />
|-
|t(2;3)(p23;q21)
|
|5'TFG::3-ALK
|very rare, two cases reported
|
|
|
|
|-
|t(2;17)(p23;q23)
|
|5'CLTC::3'ALK
|very rare, one case reported
|
|
|
|
|-
|t(2;19)(p23; p13.1)
|
|5'TPM4::3'ALK
|very rare, one case reported
|
|
|
|
|-
|t(2;22)(p23;q11.2)
|
|5'CLTCL1::3'ALK
|very rare, one or two cases
|
|
|
|the localization is restricted to granules (vesicles) in the cytoplasm<ref name=":0" />
|}
|}
==Individual Region Genomic Gain/Loss/LOH==
==Individual Region Genomic Gain/Loss/LOH==
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!Notes
!Notes
|-
|-
|EXAMPLE
|Complex Karyotype<ref name=":0" />
Co-deletion of 1p and 18q
|
|Yes
|
|No
|
|No
|See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with anapestic large cell lymphoma<ref name=":0" />.
|EXAMPLE:
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|}
|}
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==
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|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
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FISH w/ ALK BA probe
==Familial Forms==
==Familial Forms==
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==References==
==References==
<references />(use "Cite" icon at top of page)
<references />(use "Cite" icon at top of page)
===EXAMPLE Book===
#Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.
==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.
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