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Coexisting BRAF-Mutated Langerhans Cell Histiocytosis and Primary Myelofibrosis with Shared JAK2 Mutation
- Source :
- Case Reports in Hematology, Case Reports in Hematology, Vol 2021 (2021), Holst, J M, Enemark, M B, Plesner, T L, Pedersen, M B, Ludvigsen, M & d'Amore, F 2021, ' Coexisting BRAF-Mutated Langerhans Cell Histiocytosis and Primary Myelofibrosis with Shared JAK2 Mutation ', Case Reports in Hematology, vol. 2021, 6623706 . https://doi.org/10.1155/2021/6623706
- Publication Year :
- 2021
- Publisher :
- Hindawi, 2021.
-
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 BRAFV600E and JAK2V617F 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 JAK2V617F. Our case highlights an uncommon condition of two hematological malignancies present in the same patient. The identification of the BRAFV600E mutation supports previous findings of this mutation in LCH. Interestingly, a JAK2V617F mutation was found in both LCH and PMF cells, indicating a possible clonal relationship between the two malignancies.
- Subjects :
- 0301 basic medicine
Pathology
medicine.medical_specialty
Myeloid
Case Report
Pathogenesis
Lesion
03 medical and health sciences
0302 clinical medicine
Langerhans cell histiocytosis
hemic and lymphatic diseases
Biopsy
Maculopapular rash
medicine
Diseases of the blood and blood-forming organs
Myelofibrosis
medicine.diagnostic_test
business.industry
General Medicine
medicine.disease
030104 developmental biology
medicine.anatomical_structure
030220 oncology & carcinogenesis
Scalp
medicine.symptom
RC633-647.5
business
Subjects
Details
- Language :
- English
- ISSN :
- 20906579 and 20906560
- Volume :
- 2021
- Database :
- OpenAIRE
- Journal :
- Case Reports in Hematology
- Accession number :
- edsair.doi.dedup.....7095dd5a405866cbf8f4f71da2e94c74