Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032463 (polycythemia vera)
 3,374 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The presence of mast cells, often in an activated state or increased numbers, has been noted in various cutaneous disorders. Recent studies suggest that mast cells are of primary importance in these conditions and their presence does not merely represent a secondary event. This review focuses on atopic dermatitis, contact hypersensitivity reactions, bullous pemphigoid, fibrosing conditions, neurofibromatosis, wound healing, polycythemia vera, and psoriasis, in which there is significant evidence to indicate a pathophysiologic role for mast cells.
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PMID:The mast cell in health and disease. 169 80

Von Recklinghausen's neurofibromatosis is a hereditary disease predisposing to distinctive malignant hemopathies. These often develop during early childhood and are characterized by particular cytologic subtypes: juvenile chronic myeloid leukemia, monosomy 7-associated myeloproliferative syndrome and myelomonocytic leukemia. The etiopathologic mechanism underlying this association begins to be elucidated: the neurofibromatosis gene behaves like a tumor suppressor gene; its inactivation by mutation results in activation of the corresponding oncogenes. We report here the cases of two late-aged adults with neurofibromatosis: the first developed acute myelogenous leukemia, the second polycythemia vera. Based on a review of the literature, we suggest that, in opposition to childhood, the association between neurofibromatosis and malignant blood diseases is not demonstrated in adulthood.
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PMID:Von Recklinghausen neurofibromatosis and hematologic malignancies: 2 case reports in adulthood. 839 98

We report a child with polycythemia vera (PV). This patient demonstrates the acquired somatic JAK2 V617F mutation and also has neurofibromatosis type I (NF1). NF1, while not previously associated with PV, is associated with another childhood MPD, juvenile myelomonocytic leukemia (JMML). Thus we examined a number of genetic abnormalities identified in JMML patients, but found no association in this case. Neurofibromin sequencing failed to identify a causative mutation. An unknown genetic abnormality resulting in NF1 may have predisposed this young child to acquiring the common JAK2 mutation.
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PMID:JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I. 1862 21