A case report of myelodysplastic/myeloproliferative disease unclassifiable with karyotype aberration of trisomy 8 and JAK2 mutation / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 1139-1143, 2012.
Artículo
en Chino
| WPRIM
| ID: wpr-278419
ABSTRACT
This study aimed to investigate the relationship between clinical features of myelodysplastic/myeloproliferative disease, unclassifiable (MDS/MPD-U), karyotype of chromosome and JAK2 mutation in 1 case. The clinical features, karyotype and JAK2 mutation of the patient with MDS/MPD-U were studied by means of bone marrow biopsy, karyotype analysis and ARMS-PCR technique. The results indicated that the typical micromegakaryocytes and thrombocytosis, karyotype aberration of trisomy 8 as well as JAK2 V617F mutation were found in this patient. It is concluded that the patient was diagnosed as MDS/MPD-U with trisomy 8 and JAK2 V617F mutation. The data of this patient will provide evidence for studying correlation of chromosome karyotype aberration with JAK2 V617F mutation and for evaluating prognosis of MDS/MPD-U.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Trisomía
/
Cromosomas Humanos Par 8
/
Clasificación
/
Janus Quinasa 2
/
Enfermedades Mielodisplásicas-Mieloproliferativas
/
Genética
/
Cariotipificación
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Femenino
/
Humanos
Idioma:
Chino
Revista:
Journal of Experimental Hematology
Año:
2012
Tipo del documento:
Artículo
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