Diagnosis of systemic mastocytosis with cryptic deletion of <scp>TET2</scp> and <scp>DNMT3A</scp> resulting from unbalanced translocation-Reference-Cited by-同舟云学术

Diagnosis of systemic mastocytosis with cryptic deletion of TET2 and DNMT3A resulting from unbalanced translocation

Published:2024-05-04 Issue: Volume: Page:
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Chow Signy¹²³^ORCID,Lee Stephanie¹⁴,Lin August⁵⁶,Craddock Kenneth J.⁷⁸,Smith Adam C.⁷⁸⁹,Tsui Hubert⁵⁷¹⁰¹¹

Affiliation:

1. Department of Medicine Temerty Faculty of Medicine University of Toronto Toronto Ontario Canada

2. Evaluative Clinical Sciences Platform Sunnybrook Research Institute Sunnybrook Health Sciences Centre Toronto Ontario Canada

3. Division of Medical Oncology and Hematology Department of Medicine Odette Cancer Program Sunnybrook Health Sciences Centre Toronto Ontario Canada

4. Division of Oncology/Hematology Department of Medicine St. Michaels Hospital Toronto Ontario Canada

5. Biological Sciences Platform Sunnybrook Research Institute Sunnybrook Health Sciences Centre Toronto Ontario Canada

6. Department of Pathology and Laboratory Medicine University of Western Ontario London Ontario Canada

7. Department of Laboratory Medicine and Pathobiology Temerty Faculty of Medicine University of Toronto Toronto Ontario Canada

8. Advanced Diagnostics Platform Department of Laboratory Medicine and Molecular Diagnostics Precision Diagnostics and Therapeutics Program Sunnybrook Health Sciences Centre Toronto Ontario Canada

9. Division of Anatomic Pathology Department of Laboratory Medicine and Molecular Diagnostics Precision Diagnostics and Therapeutics Program Sunnybrook Health Sciences Centre Toronto Ontario Canada

10. Division of Hematological Pathology Department of Laboratory Medicine and Molecular Diagnostics Precision Diagnostics and Therapeutics Program Sunnybrook Health Sciences Centre Toronto Ontario Canada

11. Department of Immunology Temerty Faculty of Medicine University of Toronto Toronto Ontario Canada

Abstract

SummarySystemic mastocytosis (SM) is a rare haematological neoplasm associated with the gain of function mutation KIT D816V in 90% of adult patients. Classically, cytogenetic aberrations are not common except in cases of SM associated with another haematological neoplasm. We highlight here an unusual clinical presentation of SM and demonstrate the utility of advanced cytogenetic analysis (optical genome mapping, OGM) in detecting a novel cytogenetic abnormality resulting in an unusual mechanism of DNMT3A and TET2 loss of function.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.19501

Reference15 articles.

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