Gene/Protein
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Target Concepts:
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Query: UMLS:C0019621 (
Langerhans cell histiocytosis
)
3,250
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report the case of a 62 year old women with
chronic idiopathic myelofibrosis
who developed acute lymphadenopathy. At the same time diabetes insipidus, osteolytic bone lesions and exanthema of the skin were diagnosed. Suspected
Langerhans cell histiocytosis
could be proven by repeated biopsies of affected organs. Therapy was started in accordance with the recommendations of the Histiocyte Society.
...
PMID:[Lymphadenopathy and diabetes insipidus - association]. 2023 31
The pathogenesis and cellular origin of
Langerhans cell histiocytosis
(
LCH
) are debated. Recently, mutations on MAPK and PI3K pathways have been linked to disrupted cell proliferation in
LCH
. Janus Kinase 2 (JAK2) mutations play the same role in Philadelphia-negative chronic myeloproliferative neoplasms. We describe the case of a patient affected by JAK2-positive
primary myelofibrosis
(
PMF
) who developed a clonally related
LCH
while in treatment with ruxolitinib. JAK inhibitors are well known to affect function and differentiation of different hematological lineages, including mononuclear phagocytes precursors. Nevertheless, the literature describes cases of
LCH
clonally associated with non-
LCH
hematological neoplasm, suggesting how multilinear myeloid neoplasms may arise from bone marrow. Hence, we briefly discuss the possible pathogenic roles of genetic mutations and JAK inhibition therapy in the pathogenesis of
LCH
and associated neoplasms.
...
PMID:JAK2-mutated Langerhans cell histiocytosis associated with primary myelofibrosis treated with ruxolitinib. 2910 66
