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.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Facteurs de transcription
/
Translocation génétique
/
Chromosomes humains de la paire 3
/
Chromosomes humains de la paire 5
/
Proto-oncogènes
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Séquence nucléotidique
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Réarrangement des gènes
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Zébrage chromosomique
/
Résultat thérapeutique
/
Hybridation fluorescente in situ
Type d'étude:
Étude de dépistage
Limites du sujet:
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2017
Type:
Article
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