Extensive Bone Marrow Involvement by BRAF<sup>V660E</sup>-Mutated Bi-Phenotypic Erdheim-Chester Neoplasm/Rosai-Dorfman Disease (Mixed Histiocytic Neoplasm) with Atypical Histological Features and Fulminant Hemophagocytosis

The case highlights the need to recognize that ECD diagnosis requires integrating histopathology with clinical and radiographic findings. It emphasizes the importance of awareness of mixed histiocytosis features and the role of detecting BRAF mutations, even through immunohistochemistry, in suspected histiocytic neoplasms. Extensive bone marrow involvement by ECD is rarely described. To our knowledge, there are no prior reports of bi-phenotypic (concurrent) ECD/RDD mixed histiocytosis affecting the bone marrow.

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Publication Details

Journal
Case Reports in Oncology
Published
2025-05-26
DOI
https://doi.org/10.1159/000545775
Primary Topic
Histiocytic Disorders and Treatments
Type
article
Field-Weighted Citation Impact
0.00

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article

Extensive Bone Marrow Involvement by BRAFV660E-Mutated Bi-Phenotypic Erdheim-Chester Neoplasm/Rosai-Dorfman Disease (Mixed Histiocytic Neoplasm) with Atypical Histological Features and Fulminant Hemophagocytosis

Aliya H Sange, Awni Alshurafa, Hasan Rizvi, Ruba Yasin et al.
Case Reports in Oncology
Histiocytic Disorders and Treatments
article

Extensive Bone Marrow Involvement by BRAFV660E-Mutated Bi-Phenotypic Erdheim-Chester Neoplasm/Rosai-Dorfman Disease (Mixed Histiocytic Neoplasm) with Atypical Histological Features and Fulminant Hemophagocytosis

Aliya H Sange, Awni Alshurafa, Hasan Rizvi, Ruba Yasin, Zsolt Lengyel, Mahir Petkar, Dina Sameh Soliman, Firyal Ibrahim
article en

Abstract

The case highlights the need to recognize that ECD diagnosis requires integrating histopathology with clinical and radiographic findings. It emphasizes the importance of awareness of mixed histiocytosis features and the role of detecting BRAF mutations, even through immunohistochemistry, in suspected histiocytic neoplasms. Extensive bone marrow involvement by ECD is rarely described. To our knowledge, there are no prior reports of bi-phenotypic (concurrent) ECD/RDD mixed histiocytosis affecting the bone marrow.

Case Reports in OncologyVol. 18(1)
Cairo University (EG), National Center for Cancer Care and Research (QA), Weill Cornell Medical College in Qatar (QA), Dubai Medical College (AE), Hamad Medical Corporation (QA)
Hamad Medical Corporation, Qatar National Library
Good health and well-being
Openalex Percentile: Top 85%
Histiocytic Disorders and Treatments
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