Genetic Testing for Inherited Risk in Families With Leukemia
Studies genes in families with leukemia to find inherited changes linked to the disease.
Plain-language title generated from the registry record
Registry title: Next Generation Sequencing (NGS) in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
Key facts
- Where
- Brescia, ItalySee the site
Where in Italy
- Chair of Hematology and Bone marrow Transplant UnitBrescia, ItalyTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
- Trial code
- NCT03058588
- Record updated
- 30 April 2026
- Original description
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.Read full original descriptionShow less
Next Generation Sequencing (NGS) Approach to Study Known and New Germline Mutations in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
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.
Inclusion: Any patient with acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS) with:; a first- or second-degree relative with Acute leukemia or MDS or other myeloid malignancies; a first- or second-degree relative with Lymphoproliferative neoplasms; or with clinical features that resemble one of the familial MDS/AML predisposition syndromes:; 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); Lymphedema, atypical infections, immune deficiencies (as in GATA2 germline mutations).
Exclusion: 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.