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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Put your text here
==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==
|+
Put your text here
!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==
Put your text here
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" />
==Synonyms / Terminology==
==Synonyms / Terminology==
Put your text here
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>
 
ALK− ALCL affects adults (median age: 65 years), also with a male preponderance.
==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'''
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|}
|}
==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>
 
ALK− ALCL occurs as single or multiple lesions, usually supratentorial
==Morphologic Features==
==Morphologic Features==
Put your text here
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
==Immunophenotype==
==Immunophenotype==
Put your text here and fill in the table
Put your text here and fill in the table<ref>Kadin ME. Primary Ki-1-positive anaplastic large-cell lymphoma: a distinct clinicopathologic entity. Ann Oncol. 1994;5:S25-S30.</ref>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Finding!!Marker
!Finding!!Marker
|-
|-
|Positive (universal)||EXAMPLE CD1
|Positive (universal)||CD30+, ALK+, and EMA+, may express one or more T-cell antigens
|-
|-
|Positive (subset)||EXAMPLE CD2
|Positive (subset)||EXAMPLE CD2
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|Negative (subset)||EXAMPLE CD4
|Negative (subset)||EXAMPLE CD4
|}
|}
==Chromosomal Rearrangements (Gene Fusions)==
==Chromosomal Rearrangements (Gene Fusions) ALK+ ALCL==
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Put your text here and fill in the table
{| 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
Co-deletion of 1p and 18q
|
|Yes
|
|No
|
|No
|
|-
| +7 found in 20% of cases
|
|
|
|EXAMPLE:
|EXAMPLE:
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|-
|<nowiki>+9 in 5 to 10% of cases.</nowiki>
|
|
|
|
|-
|<nowiki>+X in 5 to 10% of cases.</nowiki>
|
|
|
|
|}
|}
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==
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|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
Put your text here
FISH w/ ALK BA probe
==Familial Forms==
==Familial Forms==
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Put your text here
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==References==
==References==
<references />(use "Cite" icon at top of page)
<references />(use "Cite" icon at top of page)
===EXAMPLE Book===
===<ref name=":1" />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.
#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.
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