PMID- 31739126
OWN - NLM
STAT- MEDLINE
DCOM- 20200921
LR  - 20200921
IS  - 2210-7762 (Print)
VI  - 240
DP  - 2020 Jan
TI  - Molecular and phenotypic characterization of an early T-cell precursor acute 
      lymphoblastic lymphoma harboring PICALM-MLLT10 fusion with aberrant expression of 
      B-cell antigens.
PG  - 40-44
LID - S2210-7762(19)30290-X [pii]
LID - 10.1016/j.cancergen.2019.11.002 [doi]
AB  - T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL) is usually diagnosed 
      based on the presence of immature lymphoid marker terminal deoxynucleotidyl 
      transferase (TdT), and T-cell specific markers, specifically CD3, by 
      immunohistochemistry (IHC) staining on bone marrow and/or extramedullary tissue. 
      We present a novel, TdT and CD3 negative, aggressive early T-cell precursor LBL 
      (ETP-LBL) initially misdiagnosed as a high grade B-cell lymphoma due to 
      expression of CD79a and the erroneous detection of BCL2/IGH fusion. The patient 
      was eventually evaluated using molecular diagnostic techniques, including 
      fluorescence in situ hybridization (FISH) and next generation sequencing (NGS) 
      assays that demonstrated PICALM-MLLT10 fusion and a NOTCH1 mutation in the 
      absence of BCL2/IGH fusion. The use of NGS, specifically mate-pair sequencing 
      (MPseq), subsequently confirmed an in-frame PICALM-MLLT10 fusion. Our 
      retrospective analysis showed that PICALM-MLLT10 fusion has no association with 
      CD3/TdT negativity, as 6/49 T-ALL/LBL cases from Mayo Clinic database 
      (01/1998-09/2018), including this case, were noted to have PICALM-MLLT10 fusion; 
      however, none of the other cases were associated with CD3/TdT negativity. We 
      emphasize the importance of a comprehensive hematopathologic evaluation including 
      multiple molecular studies for the appropriate interrogation and classification 
      of a difficult acute leukemia diagnosis, and to prevent potential diagnostic 
      errors of clinical significance.
CI  - Copyright (c) 2019 Elsevier Inc. All rights reserved.
FAU - Khurana, Sharad
AU  - Khurana S
AD  - Department of Hematology/Oncology, Mayo Clinic, Mangurian Building, 4500 San 
      Pablo Road, Jacksonville, FL 32224, United States. Electronic address: 
      khurana.sharad@mayo.edu.
FAU - Melody, Megan E
AU  - Melody ME
AD  - Department of Internal Medicine, Mayo Clinic, Jacksonville, FL, United States.
FAU - Ketterling, Rhett P
AU  - Ketterling RP
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, United States.
FAU - Peterson, Jess F
AU  - Peterson JF
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, United States.
FAU - Luoma, Ivy M
AU  - Luoma IM
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, United States.
FAU - Vazmatzis, George
AU  - Vazmatzis G
AD  - Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, 
      MN, United States.
FAU - Tun, Han W
AU  - Tun HW
AD  - Department of Hematology/Oncology, Mayo Clinic, Mangurian Building, 4500 San 
      Pablo Road, Jacksonville, FL 32224, United States.
FAU - Foran, James M
AU  - Foran JM
AD  - Department of Hematology/Oncology, Mayo Clinic, Mangurian Building, 4500 San 
      Pablo Road, Jacksonville, FL 32224, United States.
FAU - Jiang, Liuyan
AU  - Jiang L
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL, 
      United States.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20191109
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (BCL2-IgH fusion protein, human)
RN  - 0 (CD79 Antigens)
RN  - 0 (CD79A protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (PICALM-MLLT10 fusion protein, human)
SB  - IM
MH  - Adult
MH  - B-Lymphocytes/*immunology/metabolism
MH  - Biopsy
MH  - CD79 Antigens/analysis/immunology/*metabolism
MH  - Diagnostic Errors
MH  - Humans
MH  - Lymphoma, B-Cell/blood/diagnosis/genetics/immunology
MH  - Male
MH  - Mediastinal Neoplasms/blood/*diagnosis/genetics/immunology
MH  - Mediastinum/diagnostic imaging/pathology
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Precursor T-Cell Lymphoblastic 
      Leukemia-Lymphoma/blood/*diagnosis/genetics/immunology
MH  - Tomography, X-Ray Computed
OTO - NOTNLM
OT  - Early T-cell precursor LBL (ETP-LBL)
OT  - Fluorescence in situ hybridization (FISH)
OT  - Immunohistochemistry (IHC)
OT  - Mate-pair sequencing (MPseq)
OT  - Next generation sequencing (NGS)
OT  - PICALM-MLLT10
EDAT- 2019/11/19 06:00
MHDA- 2020/09/22 06:00
CRDT- 2019/11/19 06:00
PHST- 2019/05/28 00:00 [received]
PHST- 2019/10/21 00:00 [revised]
PHST- 2019/11/06 00:00 [accepted]
PHST- 2019/11/19 06:00 [pubmed]
PHST- 2020/09/22 06:00 [medline]
PHST- 2019/11/19 06:00 [entrez]
AID - S2210-7762(19)30290-X [pii]
AID - 10.1016/j.cancergen.2019.11.002 [doi]
PST - ppublish
SO  - Cancer Genet. 2020 Jan;240:40-44. doi: 10.1016/j.cancergen.2019.11.002. Epub 2019 
      Nov 9.