Inherited predisposition to myeloid neoplasms

Myeloid neoplasms include myelodysplastic/ myeloproliferative neoplasms (MDS/MPN) and acute myeloid leukemia (AML). While majority of these disorders are still sporadic, it is becoming clear that a subset of them have a germline predisposition and is familial in nature. With the advancement and integration of molecular studies, it has been recognized that approximately 5-10% of hematological malignancies have germline predisposition. Timely diagnosis of these cases is not only important for treatment purposes i.e. tailor-made conditioning regime for some of the bone marrow failure syndromes but also for genetic counseling, risk assessment and follow-up of the family members. Recent updates to “WHO classification of tumours of haematopoetic and Lymphoid tissues”(1) has also identified its importance and included this as a major change to its WHO revision. Now these myeloid neoplasms (MDS, MDS/MPN and Acute leukemia) have their own WHO sub-category “Myeloid Neoplasms with Germline Predisposition.” (Table 1) also known as familial predisposition to myeloid disorders (FPMD).