Co-occurrence of GATA2 deficiency and probable constitutional mosaic STAG2 alteration in a young adult with myelodysplastic syndrome: a case report
Germline predisposition syndromes are increasingly recognized in young patients presenting with myelodysplastic syndromes (MDS) and bone marrow failure. Among these, GATA2 deficiency represents a well-established cause of hereditary susceptibility to myeloid malignancies, whereas constitutional STAG2 alterations are ra...