PMID- 38528212
OWN - NLM
STAT- Publisher
LR  - 20240326
IS  - 1865-5785 (Electronic)
IS  - 1865-5785 (Linking)
DP  - 2024 Mar 25
TI  - Gamma-delta T-cell acute lymphoblastic lymphoma/leukemia: a report of a rare 
      entity.
LID - 10.1007/s12308-024-00578-7 [doi]
AB  - Gamma delta (gammadelta) T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) is a rare, 
      aggressive subtype of T-lymphoid leukemia that accounts for only 9-12% of all 
      T-ALL cases. Herein, we report the case of an 8-year-old boy who presented with 
      facial swelling, shortness of breath, and progressive cervical and axillary 
      lymphadenopathy. Pathological examination, flow cytometry (Navios, Beckman 
      Coulter ClearLLab 10C 10-color T-cell panel [containing FITC-labeled TCR gammadelta 
      antibody]), chromosomal analysis, interphase FISH, and targeted DNA-based NGS 
      (34-gene Illumina TruSeq Myeloid Panel) were performed. Flow cytometry evaluation 
      of a lymph node biopsy specimen revealed an immature T-cell population positive 
      for CD4, CD3, CD2 (subset positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal 
      deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell 
      receptor (TCR) gamma delta (gammadelta). Microscopic examination of an enlarged lymph 
      node and bone marrow showed involvement by a dense, diffuse, neoplastic 
      infiltrate. Interphase FISH revealed a copy number loss of PDGFRB (5q32) in 90.5% 
      of interphase nuclei. Targeted DNA-based NGS detected a tier II oncogenic variant 
      in NOTCH1 (c.7375C > T, p.Gln2459Ter) at a VAF of 21%. This case of gammadelta T-ALL 
      highlights a rare entity and adds to the literature, albeit scant, which may aid 
      in better recognition and classification.
CI  - (c) 2024. The Author(s).
FAU - George, Giby V
AU  - George GV
AD  - Department of Pathology and Laboratory Medicine, University of Rochester Medical 
      Center, Rochester, NY, 14642, USA.
FAU - Kajstura, Maggie
AU  - Kajstura M
AD  - Department of Pathology and Laboratory Medicine, University of Rochester Medical 
      Center, Rochester, NY, 14642, USA.
FAU - Evans, Andrew G
AU  - Evans AG
AD  - Department of Pathology and Laboratory Medicine, University of Rochester Medical 
      Center, Rochester, NY, 14642, USA.
FAU - Syposs, Chauncey R
AU  - Syposs CR
AUID- ORCID: 0000-0003-3702-1123
AD  - Department of Pathology and Laboratory Medicine, University of Rochester Medical 
      Center, Rochester, NY, 14642, USA. chauncey_syposs@urmc.rochester.edu.
LA  - eng
PT  - Journal Article
DEP - 20240325
PL  - Germany
TA  - J Hematop
JT  - Journal of hematopathology
JID - 101491976
SB  - IM
OTO - NOTNLM
OT  - Gamma-delta
OT  - T-cell acute lymphoblastic leukemia
OT  - T-cell leukemia
OT  - T-cell lymphoma
EDAT- 2024/03/26 06:44
MHDA- 2024/03/26 06:44
CRDT- 2024/03/26 00:26
PHST- 2024/01/11 00:00 [received]
PHST- 2024/03/14 00:00 [accepted]
PHST- 2024/03/26 06:44 [medline]
PHST- 2024/03/26 06:44 [pubmed]
PHST- 2024/03/26 00:26 [entrez]
AID - 10.1007/s12308-024-00578-7 [pii]
AID - 10.1007/s12308-024-00578-7 [doi]
PST - aheadofprint
SO  - J Hematop. 2024 Mar 25. doi: 10.1007/s12308-024-00578-7.