PMID- 37633531
OWN - NLM
STAT- MEDLINE
DCOM- 20231128
LR  - 20240206
IS  - 1532-8392 (Electronic)
IS  - 0046-8177 (Print)
IS  - 0046-8177 (Linking)
VI  - 141
DP  - 2023 Nov
TI  - Anaplastic large cell lymphomas with equivocal DUSP22 FISH results: 
      recommendations for clinical reporting and diagnostic evaluation.
PG  - 6-14
LID - S0046-8177(23)00171-5 [pii]
LID - 10.1016/j.humpath.2023.08.007 [doi]
AB  - Anaplastic large cell lymphoma (ALCL), one of the most common T-cell lymphomas, 
      shows unifying pathological features but is clinically and genetically 
      heterogeneous. One genetic subgroup, characterized by recurrent DUSP22 
      rearrangements (R), has distinct morphologic, immunophenotypic, and molecular 
      features and can be identified in routine pathology practice using a breakapart 
      (BAP) fluorescence in situ hybridization (FISH) probe. However, some cases show 
      equivocal BAP-FISH findings (BAP-FISH(EQ)) and the features of these cases are 
      poorly understood. Here, we sought to characterize DUSP22 BAP-FISH(EQ) ALCLs 
      further. First, we applied an immunohistochemistry (IHC) algorithm using TIA1, 
      pSTAT3(Y705), and LEF1, which can predict DUSP22-R with high accuracy. Among 37 
      BAP-FISH(EQ) ALCLs, 18 (49%) were IHC-algorithm positive (IHC(POS)), 8 (21%) were 
      IHC-algorithm negative (IHC(NEG)), and 11 (30%) were IHC(EQ). In 32 BAP-FISH(EQ) 
      cases, we also applied a dual-color, dual-fusion (D-FISH) probe for 
      t(6;7)(p25.3;q32.3), which accounts for 45% of DUSP22-R ALCLs. Among BAP-FISH(EQ) 
      cases, D-FISH was positive in 10/18 IHC(POS) cases (56%), 0/9 IHC(EQ) cases (0%), 
      and 0/5 IHC(NEG) cases (0%). Median survival in BAP-FISH(EQ) ALCLs was 105 
      months, intermediate between BAP-FISH(POS) ALCLs (median survival not reached) 
      and BAP-FISH(NEG) ALCLs (19 months). Thus, DUSP22 BAP-FISH(EQ) ALCLs are 
      clinicopathologically heterogeneous, likely due to an admixture of cases with an 
      unbalanced DUSP22-R and cases with focal deletions without rearrangement. For 
      clinical reporting, we recommend that DUSP22 BAP-FISH(EQ) ALCLs be reported as 
      equivocal, and not be grouped with BAP-FISH(POS) ALCLs. Clinical adoption of an 
      IHC algorithm, possibly supplemented by t(6; 7) D-FISH, could facilitate genetic 
      subtyping in about two-thirds of BAP-FISH(EQ) ALCLs.
CI  - Copyright (c) 2023 Elsevier Inc. All rights reserved.
FAU - Fadl, Amr
AU  - Fadl A
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 
      55905 USA.
FAU - Oishi, Naoki
AU  - Oishi N
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 
      55905 USA; Department of Pathology, University of Yamanashi, Chuo, Yamanashi 
      Prefecture, Japan.
FAU - Shi, Min
AU  - Shi M
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 
      55905 USA.
FAU - Dasari, Surendra
AU  - Dasari S
AD  - Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, 55905 
      USA.
FAU - Ansell, Stephen M
AU  - Ansell SM
AD  - Division of Hematology, Mayo Clinic, Rochester, MN, 55905 USA.
FAU - Ketterling, Rhett P
AU  - Ketterling RP
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 
      55905 USA.
FAU - Feldman, Andrew L
AU  - Feldman AL
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 
      55905 USA. Electronic address: feldman.andrew@mayo.edu.
LA  - eng
GR  - P01 CA229100/CA/NCI NIH HHS/United States
GR  - P30 CA015083/CA/NCI NIH HHS/United States
GR  - P50 CA097274/CA/NCI NIH HHS/United States
GR  - UL1 TR002377/TR/NCATS NIH HHS/United States
PT  - Journal Article
DEP - 20230824
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
RN  - EC 3.1.3.48 (DUSP22 protein, human)
RN  - EC 3.1.3.48 (Dual-Specificity Phosphatases)
RN  - EC 3.1.3.16 (Mitogen-Activated Protein Kinase Phosphatases)
SB  - IM
MH  - Humans
MH  - *Lymphoma, Large-Cell, Anaplastic/genetics/pathology
MH  - In Situ Hybridization, Fluorescence
MH  - Immunohistochemistry
MH  - Gene Rearrangement
MH  - Dual-Specificity Phosphatases/genetics
MH  - Mitogen-Activated Protein Kinase Phosphatases/genetics
PMC - PMC10840904
MID - NIHMS1927506
OTO - NOTNLM
OT  - Anaplastic large cell lymphoma
OT  - Cytogenetics
OT  - DUSP22
OT  - Fluorescence in situ hybridization
COIS- Competing interests ALF has received research funding from Seattle Genetics, is 
      an inventor of technology discussed in this manuscript for which Mayo Clinic 
      holds an unlicensed patent, and has intellectual property licensed to Zeno 
      Pharmaceuticals. RPK is an inventor of technology discussed in this manuscript 
      for which Mayo Clinic holds an unlicensed patent. The remaining authors declare 
      no conflict of interest.
EDAT- 2023/08/27 05:43
MHDA- 2023/11/28 06:42
PMCR- 2024/11/01
CRDT- 2023/08/26 19:27
PHST- 2023/08/03 00:00 [received]
PHST- 2023/08/15 00:00 [revised]
PHST- 2023/08/21 00:00 [accepted]
PHST- 2024/11/01 00:00 [pmc-release]
PHST- 2023/11/28 06:42 [medline]
PHST- 2023/08/27 05:43 [pubmed]
PHST- 2023/08/26 19:27 [entrez]
AID - S0046-8177(23)00171-5 [pii]
AID - 10.1016/j.humpath.2023.08.007 [doi]
PST - ppublish
SO  - Hum Pathol. 2023 Nov;141:6-14. doi: 10.1016/j.humpath.2023.08.007. Epub 2023 Aug 
      24.