Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

Rare inherited bone marrow failure syndromes with cancer predisposition associated with SRP72, SH2B3, MYSM1 and CBL variants: a literature review and case series

The findings highlight the importance of early molecular genetic testing in children with persistent hematopoietic abnormalities, along with regular cytogenetic surveillance and timely referral of high-risk patients for HSCT.

TP53-Mutated Myelodysplastic Syndrome with Bone Marrow Fibrosis in a Young Adult: A Rare Diagnostic and Therapeutic Challenge

Introduction: Myelodysplastic syndrome with fibrosis (MDS-F) is a rare and biologically aggressive subtype of myelodysplastic syndrome associated with severe cytopenias, poor prognosis, and increased risk of progression to acute myeloid leukemia. The coexistence of TP53 mutation further confers adverse disease biology,...

SLF2 and SMC5 dysfunction drives HSC aging and predisposes to MDS, defining a new inherited bone marrow failure syndrome.

It is demonstrated that SLF2 and SMC5 dysfunction drives premature HSC aging, bone marrow failure, and predisposition to MDS, revealing Atelis Syndrome as a previously unrecognized IBMFS.

[Clinical management of familial platelet disorder with associated myeloid malignancies: at the crossroads of hematology and clinical genetics].

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...

Expanding the spectrum of Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) syndrome: a case report with new clinical insights and novel genetic variant

This case expands the clinical, immunological, and genetic spectrum of TRNT1-related disease and highlights that immune dysregulation may dominate the clinical course and SIFD should be considered in children presenting with sideroblastic anemia associated with recurrent unexplained inflammation, B-cell immunodeficienc...