Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement

Orpha code: 168953OMIM code: 613523

Definition

A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.

Disease data
Classification

Disease

Synonyms
8p11 myeloproliferative syndrome
Białaczka/chłoniak komórek macierzystych
Zespół mieloproliferacyjny 8p11
Stem cell leukemia/lymphoma
ORPHA code
168953
OMIM code
613523
ICD10 code
D47.1
ICD11 code
2A52

No additional description.

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