An incidental B-lymphoblastic leukemia/lymphoma in a prophylactic salpingo-oophorectomy from a patient with germline BRCA1 mutation

B-lymphoblastic leukemia/lymphoma (B-ALL) is a malignant neoplasm of immature B lymphocytes. Occasionally, B-ALL may exhibit morphological and immunophenotypic overlaps with other hematologic malignancies such as B-ALL with isolated myeloperoxidase (MPO) expression which may complicate diagnosis. <i>BRCA1</i> and <i>BRCA2</i> are tumor suppressor genes involved in homologous recombination and DNA repair. While germline mutations in these genes are well-established risk factors for breast and ovarian cancers, the association between <i>BRCA1/2</i> mutations and hematologic malignancies remains underexplored. We present a rare case of B-ALL with isolated MPO expression, discovered incidentally in prophylactically resected ovaries of a patient with a germline <i>BRCA1</i> mutation, and review the literature exploring this potential association.

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Publication Details

Journal
Human Pathology Reports
Published
2025-09-23
DOI
https://doi.org/10.1016/j.hpr.2025.300795
Primary Topic
Gene expression and cancer classification
Type
article
Field-Weighted Citation Impact
0.00

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article

An incidental B-lymphoblastic leukemia/lymphoma in a prophylactic salpingo-oophorectomy from a patient with germline BRCA1 mutation

Human Pathology Reports
Gene expression and cancer classification
article

An incidental B-lymphoblastic leukemia/lymphoma in a prophylactic salpingo-oophorectomy from a patient with germline BRCA1 mutation

article en

Abstract

B-lymphoblastic leukemia/lymphoma (B-ALL) is a malignant neoplasm of immature B lymphocytes. Occasionally, B-ALL may exhibit morphological and immunophenotypic overlaps with other hematologic malignancies such as B-ALL with isolated myeloperoxidase (MPO) expression which may complicate diagnosis. <i>BRCA1</i> and <i>BRCA2</i> are tumor suppressor genes involved in homologous recombination and DNA repair. While germline mutations in these genes are well-established risk factors for breast and ovarian cancers, the association between <i>BRCA1/2</i> mutations and hematologic malignancies remains underexplored. We present a rare case of B-ALL with isolated MPO expression, discovered incidentally in prophylactically resected ovaries of a patient with a germline <i>BRCA1</i> mutation, and review the literature exploring this potential association.

Human Pathology ReportsVol. 42
Cleveland Clinic (US), Memorial Sloan Kettering Cancer Center (US)
Memorial Sloan-Kettering Cancer Center, National Institutes of Health, National Cancer Institute
Good health and well-being
Openalex Percentile: Top 50%
Gene expression and cancer classification
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