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Clinical and genetic features of a patient with myeloid neoplasm in association with PDGFRA and EVI1 gene rearrangements / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 93-97, 2017.
Artículo en Chino | WPRIM | ID: wpr-345316
ABSTRACT
<p><b>OBJECTIVE</b>Todelineate the clinical and genetic features of a patient with myeloproliferative neoplasm (MPN) in association with PDGFRA and EVI1 genes rearrangements.</p><p><b>METHODS</b>Clinical data of the patient was collected. Conventional cytogenetics, fluorescence in situ hybridization (FISH) and nested PCR were carried out for the patient.</p><p><b>RESULTS</b>The patient has featured recurrent rash, joint pain, and intermittent fever. Laboratory tests showed hyperleukocytosis and marked eosinophilia. Physical examination revealed splenomegaly. His karyotype was 46,XY,t(3;5)(q26;q15)[6]/46,XY[10]. FISH assay showed that both PDGFRA and EVI1 genes were rearranged. Molecular studies of the mRNA suggested that there was a in-frame fusion between exon 12 of the PDGFRA gene and exon 9 of the FIP1L1 gene. Imatinib was initiated at a dosage of 200 mg, and after 10 months, the signal of the FIP1L1-PDGFRA fusion gene was undetectable in bone marrow sample. However, the expression of EVI1 mRNA was stable, with no significant difference found between the patient and 10 healthy controls.</p><p><b>CONCLUSION</b>MPN in association with PDGFRA and EVI1 genes rearrangements have unique clinical and genetic features. Genetic testing is helpful for early diagnosis. Imatinib may be effective for the treatment.</p>
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Factores de Transcripción / Translocación Genética / Cromosomas Humanos Par 3 / Cromosomas Humanos Par 5 / Proto-Oncogenes / Secuencia de Bases / Reordenamiento Génico / Bandeo Cromosómico / Resultado del Tratamiento / Hibridación Fluorescente in Situ Tipo de estudio: Estudio de tamizaje Límite: Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2017 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Factores de Transcripción / Translocación Genética / Cromosomas Humanos Par 3 / Cromosomas Humanos Par 5 / Proto-Oncogenes / Secuencia de Bases / Reordenamiento Génico / Bandeo Cromosómico / Resultado del Tratamiento / Hibridación Fluorescente in Situ Tipo de estudio: Estudio de tamizaje Límite: Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2017 Tipo del documento: Artículo