Clinical trial · Observational
Next Generation Sequencing (NGS) in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
Next Generation Sequencing (NGS) Approach to Study Known and New Germline Mutations in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Leukemia | Leukemia | ONTOLOGY_EXACT | 0.90 |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Analysis with molecular biology | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- Analysis with molecular biology
- description
- Any patient with acute leukemia or other myeloid malignancy AND 1. a first- or second-degree relative with acute leukemia 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 myeloid malignancies predisposition syndromes
- interventionNames
- Genetic: Analysis with molecular biology
Primary outcomes (1)
- measure
- Discovery of predisposing mutations
- timeFrame
- After enrollment of the first 10 cases (an avarage of 2 years)
- description
- Screening of tumor and germline DNA for predisposing mutations
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
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
References
Publications (0)
Data not yet available