Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement

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A rare malignant neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene in the blood bone marrow and often other tissues as well (spleen lymph nodes skin etc.). It usually presents as chronic eosinophilic leukemia or less commonly as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia anemia thrombocytopenia neutrophilia splenomegaly lymphadenopathy fever sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash erythema cough neurological alterations gastrointestinal symptoms or rarely endomyocardial fibrosis and restrictive cardiomyopathy.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement?

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Advocacy Organizations

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.

SALUS

Educate and provide resources to POC with Rare Cancers

Youth And Women for Opportunities Uganda-YWOU

Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices

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Clinical Trials

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