Clinical and gene involved of one case of 8p11 myeloproliferative syndrome with ins(13;8)(q12;p11p23) / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 291-296, 2015.
Article
Dans Chinois
| WPRIM
| ID: wpr-282049
ABSTRACT
<p><b>OBJECTIVE</b>To improve the understanding of patients with 8p11 myeloproliferative syndrome (EMS) harboring ins(13;8)(q12;p11p23)/ZNF198 -FGFR1.</p><p><b>METHODS</b>We reported here a 8p11 EMS case and provided more details on the clinical and molecular features of ins(13;8)(q12;p11p23)/ZNF198-FGFR1,full length ZNF198-FGFR1 was cloned by overlap extension PCR method,and the literatures on this topic were reviewed.</p><p><b>RESULTS</b>Clinically, the case with ins(13;8)(q12;p11p23)/ZNF198-FGFR1 had distinct hematological and clinical characteristics hyperleukocytosis, myeloid hyperplasia,widespread adenopathy and lymphoma; Fluorescence in situ hybridization (FISH) disclosed the positive FGFR1 gene rearrangement; Further molecular studies confirmed a mRNA in-frame fusion between exon 17 of the ZNF198 gene and exon 9 of FGFR1 gene ,the full length ZNF198-FGFR1 was composed of a NH2 terminus of ZNF198 including the ZNF and proline-rich domains, whereas the COOH terminus of FGFR1 included 2 tyrosine kinase domains.</p><p><b>CONCLUSION</b>EMS with ins(13;8)(q12;p11p23)/ZNF198 -FGFR1 was a very rare, distinct myeloproliferative neoplasm, the fusion gene and chimeric protein with constitutive activation of the FGFR1 tyrosine kinase.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Facteurs de transcription
/
Translocation génétique
/
Chromosomes humains de la paire 8
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Chromosomes humains de la paire 13
/
Exons
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Récepteur facteur croissance fibroblaste
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Hybridation fluorescente in situ
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Protéines de liaison à l'ADN
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Récepteur FGFR1
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Syndromes myéloprolifératifs
Limites du sujet:
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Hematology
Année:
2015
Type:
Article
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