MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER

We report the case of a patient with a conclusive diagnosis of “MDS/MPN” Overlap Syndrome preceded by platelet disorder and hemorrhagic phenotype. We want to induce a reflection about diagnosis of oncohematological disorders in patient with a documented personal history of bleeding and/or platelet disorder, considering all the possible differential diagnosis: 1) Bleeding as the epiphenomenon of a still undiagnosed Myeloid Neoplasm or 2) Myeloid Neoplasm with germline predisposition and pre-existing platelet disorder; 3) Inherited platelet disorder successively developing MPN/MDS Overlap Syndrome.

This case report underlines the importance of genetic testing in case of patient with documented platelet function disorder, including both mutations associated with inherited platelet disorders and germline mutations more strictly predisposing to Myeloid Neoplasms.