Genetic analysis of familial acute myeloid leukemia and myelodysplastic syndromes

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to identify genetic mutations in patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS) who have a family history of these conditions. Using next generation sequencing (NGS), researchers will screen both affected and unaffected family members for known and unknown mutations associated with these diseases. The study will involve both retrospective and prospective analyses, including gene panel deep sequencing and whole exome sequencing if necessary. The goal is to better understand the hereditary aspects of these malignancies and potentially identify new genetic predispositions.

Why it matters

Who can join: the full rules

Inclusion criteria:

Any patient with acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS) with:

1. a first- or second-degree relative with Acute leukemia or MDS or other myeloid malignancies
2. a first- or second-degree relative with Lymphoproliferative neoplasms
3. 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 Criteria:

1. any diagnosis other than acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS);
2. 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;
3. unability to sign the informed consent

Where it's running

• Chair of Hematology and Bone marrow Transplant Unit
  Brescia, Italy Recruiting

Study contacts

• Principal investigator: Domenico Russo, MD — Chair of Hematology
• Study coordinator: Domenico Russo, MD
• Email: domenico.russo@unibs.it
• Phone: 0039303996811

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.