Observational Study for the Evaluation of Incidence of Familial AML/MDSs in Patients With Myeloid Neoplasms

Study Overview
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Brief Summary
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Observational study aimed at evaluating the incidence of familial AML/MDSs in patients with de novo MDSs or AML with almost one relative affected by hematologic neoplasms and/or other cancers at young age (< 40 years)

Detailed Description
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This is a multicenter, retrospective and prospective, observational study aims to collect clinical information on patients with familial AML/MDSs from January 2014 to December 2022. No intervention is expected. The purpose of this study is to identify and characterize the patients with familial MDSs or AML (i.e. with relatives affected by hematologic neoplasms and/or other cancers at young age (< 40 years)) or presence of signs, symptoms or laboratory tests compatible with one of the known syndromes with germinal susceptibility to AML/MDSs. In order to estimate the incidence of familial AML/MDSs, a survey will be sent every year to all participating sites to collect only the number of the all diagnosis of AML/MDS. All patients will be followed until December 2023 in order to have at least 1 year of observation.

Official Title
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A Retrospective and Prospective Multicentre Observational Study for the Evaluation of Incidence of Familial AML/MDSs in Patients With Myeloid Neoplasms (AML/MDS)

Conditions
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Acute Myeloid Leukemia, Familial Acute Myeloid Leukemia, Myelodysplastic Syndromes

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patient age > 18 years old Diagnosis of AML or MDSs from January 2014 to December 2022 Suspected familiarity for myeloid neoplasm: at least one family member of first or second degree affected by myeloid neoplasm or other hematological malignancy, or by solid tumors with onset at age < 40 years or presence of signs, symptoms or laboratory tests compatible with one of the known syndromes with germinal susceptibility to AML/MDSs Signed written informed consent according to ICH/EU/GCP and national local laws. Exclusion Criteria: none

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Incidence of familial AML/MDSs | Evaluation of incidence of familial AML/MDSs in patients with de novo MDSs or AML with almost one relative affected by hematologic neoplasms and/or other cancers at young age (< 40 years). The incidence of familial AML/MDSs will be evaluated by means of number of diagnosis of familial AML/MDSs on the number of all diagnosis of AML/MDS between January 2014 and December 2022. | at 1 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Hematological characteristics of familial AML/MDSs | Evaluation of hematological characteristics of patients with familial AML/MDS. | at 1 year | 
| Distribution of familial hematologic neoplasms and/or other cancers | Type and rate of familial hematologic neoplasms and/or other cancers | at 1 year | 
| Incidence of transplantation | Outcome of transplant in patients with familial AML/MDS | at 1 year | 
| Survival Distribution | Overall Survival (OS) and Progression Free Survival (PFS) | at 1 year | 
| Standardized Mortality Ratio (SMR) | SMR to compare the survival risk in patients with familial AML/MDS with the risk in the Italian general population | at 1 year |