Publications by authors named "I S Dokal"
Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM, FPD/AML, -FPD), caused by monoallelic deleterious germline variants, is characterized by bleeding diathesis and predisposition for hematologic malignancies, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Clinical data on FPDMM-associated AML (FPDMM-AML) are limited, complicating evidence-based clinical decision-making. Here, we present retrospective genetic and clinical data of the largest cohort of FPDMM patients reported to date.
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- - Dyskeratosis congenita (DC) is a rare inherited condition that leads to bone marrow failure and is largely linked to mutations affecting telomere biology, with about 35% of cases having unidentified genetic causes.
- - Research on a wide range of DC and 'DC-like' cases uncovered new pathogenic variants, including findings in the novel X-linked gene POLA1 and in known genes POT1 and ZCCHC8, enhancing the understanding of the genetic basis of these disorders.
- - Functional studies indicated that the new variants in POLA1 and POT1 disrupt crucial protein interactions that are essential for telomere maintenance, while ZCCHC8 variants lead to inflammation in patients, thereby contributing to the understanding of
Ewing sarcoma is a very rare tumour with aggressive behaviour and a poor prognosis. It tends to metastasize rapidly. Renal Ewing sarcoma is extremely rare, and only 48 cases have been reported in the literature.
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