Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm.
Seok Ryun KwonMan Jin KimYoung-Eun LeeJiwon YunDa-Jeong JeongJae Hyeon ParkSunghoon KwonDong Soon LeePublished in: PloS one (2022)
Hereditary thrombocytopenia is a heterogeneous group of congenital disorders with a wide range of symptoms depending on the severity of platelet dysfunction or thrombocytopenia. Because of its clinical phenotypes and the bone marrow morphology associated with this condition, hereditary thrombocytopenia can be misdiagnosed as primary immune thrombocytopenia and myelodysplastic syndrome. Therefore, genetic evidence is necessary for the accurate diagnosis of hereditary thrombocytopenia. Refractory cytopenia of childhood is a subgroup of myelodysplastic syndrome that was added to the World Health Organization classification in 2008. To investigate the germline and somatic variants associated with refractory cytopenia of childhood, we performed targeted multigene sequencing in three patients with refractory cytopenia of childhood. Of the three patients, one progressed from megakaryocytic hypoplasia with thrombocytopenia, and targeted multigene sequencing revealed THPO variants in this patient and his sister. We propose that the monoallelic deletion of THPO is a potential candidate for germline predisposition to myeloid malignancy.
Keyphrases
- bone marrow
- copy number
- end stage renal disease
- single cell
- acute myeloid leukemia
- machine learning
- dendritic cells
- ejection fraction
- chronic kidney disease
- early life
- dna repair
- gene expression
- deep learning
- cancer therapy
- clinical trial
- randomized controlled trial
- peritoneal dialysis
- high resolution
- oxidative stress
- mass spectrometry
- depressive symptoms
- prognostic factors
- drug delivery
- physical activity
- sleep quality
- phase iii