Coexisting BRAF-Mutated Langerhans Cell Histiocytosis and Primary Myelofibrosis with Shared JAK2 Mutation. (17th April 2021)

• Record Type: Journal Article
• Authors: Holst, Johanne Marie; Enemark, Marie Beck; Plesner, Trine Lindhardt; Pedersen, Martin Bjerregaard; Ludvigsen, Maja; d'Amore, Francesco
• Other Names: Langabeer Stephen E. Academic Editor.
• Is Part Of: Case reports in hematology. Volume 2021(2021)
• Publication Date: 2021-04-17
• Subjects: Hematology -- Periodicals; Hematology -- Case studies -- Periodicals; Blood -- Diseases -- Periodicals; Hematology; Hematologic Diseases; Blood -- Diseases; Hematology; Electronic journals; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 616.15
• DOI: 10.1155/2021/6623706
• Languages: English
• ISSNs: 2090-6560

Abstract

Abstract : Langerhans cell histiocytosis (LCH) is an infrequent disease, characterized by oligoclonal proliferation of immature myeloid-derived cells. However, the exact pathogenesis remains unknown. In rare cases, LCH is present in patients with concomitant myeloid proliferative neoplasms. Here, we describe a 69-year-old male, who presented with a maculopapular rash covering truncus, face, and scalp. A cutaneous ulcerating lesion on the right cheek led to a biopsy showing LCH. Lesional cells were BRAF V600E and JAK2 V617F mutated. A bone marrow aspirate showed no infiltration of Langerhans cells, but alterations consistent with primary myelofibrosis (PMF) and a polymerase chain reaction test were positive for JAK2 V617F . Our case highlights an uncommon condition of two hematological malignancies present in the same patient. The identification of the BRAF V600E mutation supports previous findings of this mutation in LCH. Interestingly, a JAK2 V617F mutation was found in both LCH and PMF cells, indicating a possible clonal relationship between the two malignancies.