1. Molecular and phenotypic characterization of an early T-cell precursor acute lymphoblastic lymphoma harboring PICALM-MLLT10 fusion with aberrant expression of B-cell antigens.
- Author
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Khurana S, Melody ME, Ketterling RP, Peterson JF, Luoma IM, Vazmatzis G, Tun HW, Foran JM, and Jiang L
- Subjects
- Adult, B-Lymphocytes metabolism, Biopsy, CD79 Antigens analysis, CD79 Antigens immunology, Diagnostic Errors, Humans, Lymphoma, B-Cell blood, Lymphoma, B-Cell diagnosis, Lymphoma, B-Cell genetics, Lymphoma, B-Cell immunology, Male, Mediastinal Neoplasms blood, Mediastinal Neoplasms genetics, Mediastinal Neoplasms immunology, Mediastinum diagnostic imaging, Mediastinum pathology, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma blood, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma genetics, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma immunology, Tomography, X-Ray Computed, B-Lymphocytes immunology, CD79 Antigens metabolism, Mediastinal Neoplasms diagnosis, Oncogene Proteins, Fusion genetics, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma diagnosis
- Abstract
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., (Copyright © 2019 Elsevier Inc. All rights reserved.)
- Published
- 2020
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