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Characteristics of a patient with myeloid neoplasm and co-existence of t(7;11)(p15;p15) and t(5;12)(q33;p13) translocations / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 249-252, 2019.
Article in Chinese | WPRIM | ID: wpr-772032
ABSTRACT
OBJECTIVE@#To delineate the clinical and molecular characteristics of a patient with myeloid neoplasm and co-existence of t(7;11)(p15;p15) and t(5;12)(q33;p13) translocations.@*METHODS@#Clinical data of the patient was collected. Conventional karyotyping, reverse transcriptase (RT)-PCR and next generation sequencing (NGS) were carried out to delineate its genetic features.@*RESULTS@#The patient has featured recurrent rash, fatigue, loss of appetite and splenomegaly. Laboratory test suggested hyperleukocytosis of FAB-M2-subtype. Neither eosinophilia nor basophilia was presented. NUP98/HOXA9 and ETV6/PDGFRB fusion genes were detected by RT-PCR. NGS and DNA-PCR showed the co-existence of WT1 p.C423Y, KRAS p.G12D and DNMT3A p.R882C mutations. The patient achieved morphological remission after imatinib plus coventional chemotherapy (standard IAC regimen). However, the disease has relapsed shortly after. Treatment was switched to HHT-Ara-C-Acla regimen, no hematological response was observed. The ETV6/PDGFRB fusion gene was undetectable in bone marrow sample, though strong expression of NUP98/HOXA9 was detectable throughout the whole course.@*CONCLUSION@#Acute myeloid leukemia in association with the co-existence of NUP98/HOXA9 and ETV6/PDGFRB fusion genes have unique clinical and genetic features. Imatinib seems to have no impact on the overall survival in such cases.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Translocation, Genetic / Leukemia, Myeloid, Acute / Oncogene Proteins, Fusion / Chromosomes, Human / Karyotyping / Myeloproliferative Disorders Limits: Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2019 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Translocation, Genetic / Leukemia, Myeloid, Acute / Oncogene Proteins, Fusion / Chromosomes, Human / Karyotyping / Myeloproliferative Disorders Limits: Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2019 Type: Article