Difference between revisions of "Anaplastic Large Cell Lymphoma, ALK-Negative"

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*3-gene model (TNFRSF8, BATF3, and TMOD1) distinguishes Alk- ALCL from PTCL with > 97% accuracy<ref>{{Cite journal|date=2020-02-10|title=ALK-negative anaplastic large cell lymphoma|url=http://dx.doi.org/10.32388/xalv0h|journal=Definitions|publisher=Qeios}}</ref>
 
*3-gene model (TNFRSF8, BATF3, and TMOD1) distinguishes Alk- ALCL from PTCL with > 97% accuracy<ref>{{Cite journal|date=2020-02-10|title=ALK-negative anaplastic large cell lymphoma|url=http://dx.doi.org/10.32388/xalv0h|journal=Definitions|publisher=Qeios}}</ref>
*5 year overall survival > 90% for DUSP22 rearranged Alk- ALCL, compared to 17% for TP63-rearranged ALCLs, and 42% for cases lacking all 3 genetic markers
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*5 year overall survival > 90% for DUSP22 rearranged Alk- ALCL, 17% for TP63-rearranged Alk- ALCL, and 42% for cases lacking DUSP22, TP63 and ALK<ref name=":0" />
  
 
==Familial Forms==
 
==Familial Forms==

Revision as of 17:31, 28 July 2020

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Primary Author(s)*

Derick Okwan-Duodu, MD, PhD; Sumire Kitahara, MD

Cancer Category/Type

Mature T-cell neoplasm

Cancer Sub-Classification / Subtype

Definition / Description of Disease

This entity of anaplastic large cell lymphoma is morphologically and phenotypically indistinguishable from Alk-Positive anaplastic large cell lymphoma.

Synonyms / Terminology

  • N/A

Epidemiology / Prevalence

  • More common in adults than children
  • Less than 3% of all Non-Hodgkin's lymphoma
  • M:F 1.5:1

Clinical Features

  • B symptoms of weight loss, fevers, chills
  • Peripheral and/or abdominal lymphadenopathy
  • Most patients present with advanced stage disease

Sites of Involvement

  • Nodal (predominantly abdominal lymphadenopathy
  • Extranodal (skin, bone, gastrointestinal)

Morphologic Features

  • Tissue effacement by cohesive sheets of large, pleomorphic neoplastic cells
  • Prominent nucleoli
  • Hallmark cells
  • High nuclear-cytoplasmic ratio
  • Eosinophils common

Immunophenotype

Finding Marker
Positive (universal) strong CD30, CD43 (almost universally)
Positive (subset) CD2, CD3, CD4, CD5, TIA1, granzyme B, perforin
Negative (universal) ALK, EBER, LMP-1
Negative (DUSP22 rearranged subset) CD2, CD3, CD5, TIA1, granzyme B, perforin

Chromosomal Rearrangements (Gene Fusions)[1][2]

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence
t(6;7)(p25.3;q32.3) DUSP22/IRF4 30%[3]
t(3;3)(q22;q26.2) P63/TBL1XR1 8%[3]

Characteristic Chromosomal Aberrations / Patterns

Genomic Gain/Loss/LOH

Put your text here and/or fill in the table

Chromosome Number Gain/Loss/Amp/LOH Region
1q Gain
6p Gain
8q Gain
12q Gain
4q Loss
6q Loss
13q Loss
17p Loss

Gene Mutations (SNV/INDEL)

Gene Mutation Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence (COSMIC/TCGA/Other)
EXAMPLE TP53 EXAMPLE R273H EXAMPLE Tumor Suppressor EXAMPLE LOF EXAMPLE 20%

Other Mutations

Type Gene/Region/Other
Concomitant Mutations EXAMPLE IDH1 R123H
Secondary Mutations EXAMPLE Trisomy 7
Mutually Exclusive EXAMPLE EGFR Amplification

Epigenomics (Methylation)

  • N/A

Genes and Main Pathways Involved

JAK-STAT

Diagnostic Testing Methods

ERBB4 and COL29A1 co-expressing subtype[4]

DUSP22- IRF4[5]

Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)

  • 3-gene model (TNFRSF8, BATF3, and TMOD1) distinguishes Alk- ALCL from PTCL with > 97% accuracy[6]
  • 5 year overall survival > 90% for DUSP22 rearranged Alk- ALCL, 17% for TP63-rearranged Alk- ALCL, and 42% for cases lacking DUSP22, TP63 and ALK[3]

Familial Forms

  • Not described

Other Information

Put your text here

Links

Put your links here (use "Link" icon at top of page)

References

(use "Cite" icon at top of page)

  1. Pileri, Stefano (2011-05-01). "Faculty Opinions recommendation of Discovery of recurrent t(6;7)(p25.3;q32.3) translocations in ALK-negative anaplastic large cell lymphomas by massively parallel genomic sequencing".
  2. Wisell, J. (2012-01). "Specificity of IRF4 translocations for primary cutaneous anaplastic large cell lymphoma: a multicenter study of 204 skin biopsies". Yearbook of Pathology and Laboratory Medicine. 2012: 83–84. doi:10.1016/j.ypat.2011.11.134. ISSN 1077-9108. Check date values in: |date= (help)
  3. 3.0 3.1 3.2 Er, Parrilla Castellar; et al. (2014). "ALK-negative anaplastic large cell lymphoma is a genetically heterogeneous disease with widely disparate clinical outcomes". doi:10.1182/blood-2014-04-571091. PMC 4148769. PMID 24894770.CS1 maint: PMC format (link)
  4. I, Scarfò; et al. (2016). "Identification of a new subclass of ALK-negative ALCL expressing aberrant levels of ERBB4 transcripts". PMID 26463425.
  5. Al, Feldman; et al. (2011). "Discovery of recurrent t(6;7)(p25.3;q32.3) translocations in ALK-negative anaplastic large cell lymphomas by massively parallel genomic sequencing". doi:10.1182/blood-2010-08-303305. PMC 3035081. PMID 21030553.CS1 maint: PMC format (link)
  6. "ALK-negative anaplastic large cell lymphoma". Definitions. Qeios. 2020-02-10.

Notes

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