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Whole exome sequencing identifies a novel FANCD2 gene splice site mutation associated with disease progression in chronic myeloid leukemia: Implication in targeted therapy of advanced phase CML.
Absar, Muhammad; Mahmood, Amer; Akhtar, Tanveer; Basit, Sulman; Ramzan, Khushnooda; Jameel, Abid; Afzal, Sibtain; Ullah, Anhar; Qureshi, Kulsoom; Alanazi, Nawaf; Iqbal, Zafar.
Afiliación
  • Absar M; Hematology Oncology and Pharmacogenetics Engineering Sciences (HOPES) Group, Health Sciences Research Laboratories, Department of Zoology, University of the Punjab, Lahore, Pakistan.
  • Mahmood A; Stem Cell Unit, Department of Anatomy College of Medicine King Khalid University Hospital King Saud University, Saudi Arabia.
  • Akhtar T; Hematology Oncology and Pharmacogenetics Engineering Sciences (HOPES) Group, Health Sciences Research Laboratories, Department of Zoology, University of the Punjab, Lahore, Pakistan.
  • Basit S; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawwarah, Saudi Arabia.
  • Ramzan K; Department of Genetics, King Faisal Specialist Hospital and Research Centre Riyadh, Saudi Arabia.
  • Jameel A; Medical Oncology Unit, HMC, Peshawar, KP, Pakistan.
  • Afzal S; Deptt. of Medical Laboratory Sciences, Faculty of Allied & Health Sciences, Imperial College of Business Studies, Lahore, Pakistan.
  • Ullah A; Department of Cardiac Sciences, College of Medicine, King Saud University, Saudi Arabia.
  • Qureshi K; Medical Oncology Unit, HMC, Peshawar, KP, Pakistan.
  • Alanazi N; Cancer and Medical Genetics, CAMS-A, King Saud Bin Abdulaziz University for Health Sciences & King Abdullah International Medical Research Centre (KAIMRC), King Abdulaziz Medical City, National Guard Health Affairs, Al Ahsa, Saudi Arabia.
  • Iqbal Z; Cancer and Medical Genetics, CAMS-A, King Saud Bin Abdulaziz University for Health Sciences & King Abdullah International Medical Research Centre (KAIMRC), King Abdulaziz Medical City, National Guard Health Affairs, Al Ahsa, Saudi Arabia.
Pak J Pharm Sci ; 33(3(Special)): 1419-1426, 2020 May.
Article en En | MEDLINE | ID: mdl-33361032
Tyrosine Kinase Inhibitors (TKIs) have significantly improved the clinical outcome of BCR-ABL+ Chronic Phase-Chronic Myeloid Leukemia (CP-CML). Nonetheless, approximately one-third of the CP-CML patient's progress to advanced phases of CML (accelerated and blast phase). Impaired DNA repair including mutations in Fanconi anemia (FA) pathway genes are responsible for progression of many cancers. Nevertheless, FA-pathways genes have never been reported in myeloid cancers. Hence, this study was aimed to discover DNA repair genes associated with CML progression. AP-CML patients were subjected to whole exome sequencing along with appropriate controls. A novel splice site FANCD2 mutation was detected. FANCD2 is a well-known FA-pathway gene with established role in DNA repair. This is first report of FA-pathway DNA repair genes in myeloid cancers that can serve as a novel marker of CML progression to clinically intervene CML progression. Further studies are needed to establish the functional role of FANCD2 in CML progression that can provide novel insights into CML pathogenesis. This study also indicates that a combination TKIs and Poly (ADP-ribose) polymerase (PARP) inhibitors like Olaparib (FDA approved anti-cancer drug for FA-pathway gene mutations) could improve the clinical outcome CML patients in accelerated and blast-crisis phases of the disease.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Leucemia Mielógena Crónica BCR-ABL Positiva / Biomarcadores de Tumor / Sitios de Empalme de ARN / Proteína del Grupo de Complementación D2 de la Anemia de Fanconi / Secuenciación del Exoma / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Pak J Pharm Sci Asunto de la revista: FARMACIA / FARMACOLOGIA / QUIMICA Año: 2020 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Pakistán
Buscar en Google
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Leucemia Mielógena Crónica BCR-ABL Positiva / Biomarcadores de Tumor / Sitios de Empalme de ARN / Proteína del Grupo de Complementación D2 de la Anemia de Fanconi / Secuenciación del Exoma / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Pak J Pharm Sci Asunto de la revista: FARMACIA / FARMACOLOGIA / QUIMICA Año: 2020 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Pakistán