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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아혈액종양학회 Clinical Pediatric Hematology-Oncology Clinical Pediatric Hematology-Oncology Vol.28 No.2
- 발행연도
- 2021.10
- 수록면
- 89 - 92 (4page)
- DOI
- 10.15264/cpho.2021.28.2.89
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초록· 키워드
오류제보하기
One of the pathophysiologic mechanism of inherited thrombocytopenia is a defect in transcription factors that regulate the expression of multiple genes required for mega-karyopoiesis. Runt-related transcription factor 1 (RUNX1) binds to its heterodimeric partner, core binding factor beta (CBFβ), and forms a core binding factor that regu-lates the expression of various target genes. The association between RUNX1 germ-line mutations and familial platelet disorder with associated myeloid malignancy was first reported in 1999. Although this disease has various phenotypes and penetration, the most common symptom is a bleeding tendency due to thrombocytopenia and pla-telet dysfunction. Myelodysplastic syndromes or acute myeloid leukemia may also de-velop in 35-40% of cases. We identified a heterozygous mutation in the RUNX1 gene using diagnostic exome sequencing in an adolescent with chronic thrombocytopenia. The patient will be followed continuously for hematologic malignancies that may de-velop in the future. This case illustrates the importance of diagnosing inherited thrombocytopenia to provide adequate follow-up for hematologic malignancies and reduce unnecessary treatment.
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등록된 정보가 없습니다.
참고문헌 (15)
참고문헌 신청
Sood R / 2017 / Role of RUNX1 in hematological malignancies / Blood 129:2070~2082
Luddy RE / 1978 / A fatal myeloproliferative syndrome in a family with thrombocytopenia and platelet dysfunction / Cancer 41:1959~1963
Song WJ / 1999 / Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia / Nat Genet 23:166~175
Meerim Park / 2021 / Myelodysplastic syndrome with genetic predisposition / Blood Research 56:34~38
Noris P / 2017 / Hereditary thrombocytopenias : a growing list of disorders / Hematology Am Soc Hematol Educ Program 2017:385~399
Luddy RE / 1978 / A fatal myeloproliferative syndrome in a family with thrombocytopenia and platelet dysfunction / Cancer 41:1959~1963
Song WJ / 1999 / Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia / Nat Genet 23:166~175
Meerim Park / 2021 / Myelodysplastic syndrome with genetic predisposition / Blood Research 56:34~38
Noris P / 2017 / Hereditary thrombocytopenias : a growing list of disorders / Hematology Am Soc Hematol Educ Program 2017:385~399
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