The aim of this study is to look for predisposing mutations in patients and relatives affected by AML and MDS with familial history of myeloid or, less frequently, lymphoid malignancies. Taking advantage of a next generation sequencing (NGS) platform, screening for known and unknown mutations potentially associated with the disease will be done. The screening will be performed on affected and unaffected family members, in order to outline new pedigrees that either validate previous findings or constitute novel discoveries.
a first- or second-degree relative with Acute leukemia or MDS or other myeloid malignancies
a first- or second-degree relative with Lymphoproliferative neoplasms
History of thrombocytopenia and/or a clinical bleeding propensity (as in RUNX1, ANKRD26 or ETV6 germline mutations)
Abnormal nails or skin pigmentation, oral leukoplakia, idiopathic pulmonary fibrosis, unexplained liver disease (as in TERT and TERC germline mutations)
any diagnosis other than acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS);
acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS) without a first- or second-degree relative with Acute leukemia or MDS or other myeloid malignancies or without a first- or second-degree relative with Lymphoproliferative neoplasms or with clinical features that resemble one of the familial MDS/AML predisposition syndromes;
unability to sign the informed consent
Detailed personal and family history from every patient affected by myeloid malignancy will be obtained, in order to identify patients with at least one relative affected by myeloid malignancy or lymphoproliferative disorders or with the features that increase the likelihood of one of the aforementioned familial myeloid malignancy predisposition syndromes
Family-based
Prospective
Analysis with molecular biology
GeneticMolecular screening by next generation sequencing (NGS) platform, for known and unknown mutations potentially associated with the disease
Discovery of predisposing mutations
Screening of tumor and germline DNA for predisposing mutations
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