An observational study in Leukemia, sponsored by Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia. Recruiting at 1 site in Italy. Per ClinicalTrials.gov, last updated 2026-04-30.
Sponsored by Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · Observational
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.
Patients with a diagnosis of AML or MDS with at least one relative affected by AL/MDS or, secondly, lymphoproliferative disorders, will be enrolled into the study, and will be referred to as the index case. The analysis will be performed both retrospectively and prospectively. A gene panel deep sequencing (GPDS) of the tumor DNA from peripheral blood of the index case at diagnosis will be performed in order to identify mutations in a number of genes known to be associated to myeloid malignancies, mainly: ASXL1, BCOR, NRAS, TP53, RUNX1, CEBPA, FLT3, EZH2, IDH1, IDH2, NPM1, DNMT3A, TET2, CBL, KRAS, ETV6, SF3B1, SRSF2, U2AF1, ZRSR2, GATA2, TERT, TERC, SRP72, and ANKRD26.
In case none of the known mutations is found by the GPDS, whole exome sequencing (WES) will be performed as second step on the tumor cells of the index case.
When one or multiple somatic mutations are found, a Sanger Sequencing (SS) on germline DNA from epithelial buccal cells of the index cases and affected relatives will be performed for the screening of the same somatic leukemic mutations on germline DNA. If the index case and affected relatives share the same mutations on the germline, the same germline mutations will be checked by SS in the unaffected family members.
2,381 studies on the registry are indexed under Leukemia; 253 are open to participants now.
This study's planned enrollment of 20 is below the median of 142 across 332 observational studies indexed under Leukemia.
Browse Leukemia studies →Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia is the lead sponsor of 84 studies on the registry; 15 are open to participants now.
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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
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Any patient with acute myeloid leukemia (AML) or Myelodisplastic Syndrome (MDS) with:
or with clinical features that resemble one of the familial MDS/AML predisposition syndromes:
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Cancer (malignancy)
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
Genetic: Analysis with molecular biology
Molecular 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
Time frame: After enrollment of the first 10 cases (an avarage of 2 years)
Plan to share: No
No publications or documents are linked to this record.
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Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia