Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm
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 thrombocytope...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2022-01-01
|
| Series: | PLoS ONE |
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9762605/?tool=EBI |
| _version_ | 1797978064369483776 |
|---|---|
| author | Seok Ryun Kwon Man Jin Kim Young-eun Lee Jiwon Yun Da-jeong Jeong Jae Hyeon Park Sunghoon Kwon Dong Soon Lee |
| author_facet | Seok Ryun Kwon Man Jin Kim Young-eun Lee Jiwon Yun Da-jeong Jeong Jae Hyeon Park Sunghoon Kwon Dong Soon Lee |
| author_sort | Seok Ryun Kwon |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T05:17:05Z |
| format | Article |
| id | doaj.art-31876f90b2e8415084485349b2a13694 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-11T05:17:05Z |
| publishDate | 2022-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-31876f90b2e8415084485349b2a136942022-12-24T05:33:26ZengPublic Library of Science (PLoS)PLoS ONE1932-62032022-01-011712Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasmSeok Ryun KwonMan Jin KimYoung-eun LeeJiwon YunDa-jeong JeongJae Hyeon ParkSunghoon KwonDong Soon LeeHereditary 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.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9762605/?tool=EBI |
| spellingShingle | Seok Ryun Kwon Man Jin Kim Young-eun Lee Jiwon Yun Da-jeong Jeong Jae Hyeon Park Sunghoon Kwon Dong Soon Lee Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm PLoS ONE |
| title | Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm |
| title_full | Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm |
| title_fullStr | Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm |
| title_full_unstemmed | Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm |
| title_short | Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm |
| title_sort | novel thpo variant in hereditary thrombocytopenia a potential candidate variant for predisposition to myeloid neoplasm |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9762605/?tool=EBI |
| work_keys_str_mv | AT seokryunkwon novelthpovariantinhereditarythrombocytopeniaapotentialcandidatevariantforpredispositiontomyeloidneoplasm AT manjinkim novelthpovariantinhereditarythrombocytopeniaapotentialcandidatevariantforpredispositiontomyeloidneoplasm AT youngeunlee novelthpovariantinhereditarythrombocytopeniaapotentialcandidatevariantforpredispositiontomyeloidneoplasm AT jiwonyun novelthpovariantinhereditarythrombocytopeniaapotentialcandidatevariantforpredispositiontomyeloidneoplasm AT dajeongjeong novelthpovariantinhereditarythrombocytopeniaapotentialcandidatevariantforpredispositiontomyeloidneoplasm AT jaehyeonpark novelthpovariantinhereditarythrombocytopeniaapotentialcandidatevariantforpredispositiontomyeloidneoplasm AT sunghoonkwon novelthpovariantinhereditarythrombocytopeniaapotentialcandidatevariantforpredispositiontomyeloidneoplasm AT dongsoonlee novelthpovariantinhereditarythrombocytopeniaapotentialcandidatevariantforpredispositiontomyeloidneoplasm |