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(2) Familial cancer syndromes associated with increased risk of multiple types of malignancies in addition to myelodysplasia (MDS) and acute myeloid leukemia (AML), such as Li-Fraumeni syndrome (''TP53'' gene), Bloom syndrome (''BLM'' gene),  and constitutional mismatch repair deficiency (CMMRD; also known as biallelic mismatch repair deficiency (BMMRD)), neurofibromatosis type I, Nijmegen breakage syndrome (NBS) and Noonan syndrome.

(2) Familial cancer syndromes associated with increased risk of multiple types of malignancies in addition to myelodysplasia (MDS) and acute myeloid leukemia (AML), such as Li-Fraumeni syndrome (''TP53'' gene), Bloom syndrome (''BLM'' gene),  and constitutional mismatch repair deficiency (CMMRD; also known as biallelic mismatch repair deficiency (BMMRD)), neurofibromatosis type I, Nijmegen breakage syndrome (NBS) and Noonan syndrome.

(3) Familial pediatric inherited bone marrow failure syndromes, including Fanconi anemia (FA), dyskeratosis congenital (DC), severe congenital neutropenia (SCN), Shwachman-Diamond syndrome (SDS), MIRAGE syndrome and Diamond Blackfan anemia (DBA). These syndromes are caused by mutations in more than one genes, except for SDS and MIRAGE syndrome, which are caused by ''SDBS'' and ''SMAD9'' gene mutation, respectively.

(3) Familial pediatric inherited bone marrow failure syndromes, including Fanconi anemia (FA), dyskeratosis congenital (DC), severe congenital neutropenia (SCN), Shwachman-Diamond syndrome (SDS), MIRAGE syndrome and Diamond Blackfan anemia (DBA). These syndromes are caused by mutations in more than one gene, except for SDS and MIRAGE syndrome, which are caused by ''SDBS'' and ''SMAD9'' gene mutation, respectively.

The patients with pathogenic mutations of these susceptibility genes usually have characteristic clinical features and should be managed differently from those sporadic cases with a multidisciplinary team. Detailed family and medical history and appropriate genetic testing and counseling are important for recognition and detection of these conditions, and close monitoring is vital for early identification of malignant transformation.  

The patients with pathogenic mutations of these susceptibility genes usually have characteristic clinical features and should be managed differently from those sporadic cases with a multidisciplinary team. Detailed family and medical history and appropriate genetic testing and counseling are important for recognition and detection of these conditions, and close monitoring is vital for early identification of malignant transformation.