Reciprocal translocation between chromosomes 8 and 9 in atypical chronic myeloid leukaemia.
نویسندگان
چکیده
A balanced translocation t(8;9) (p11;q34) was present in the peripheral blood, bone marrow, and spleen cells of a patient with Ph negative chronic myeloid leukaemia. Subsequent transformation into acute leukaemia was associated with the emergence of trisomy 8 and der(8)(8qter----cen----8p11::9q34----9qter). This is the third reported case of t(8;9) (p11;q34) and raises the question of the role of c-abl in the pathogenesis of this myeloproliferative disorder.
منابع مشابه
Fluorescence in situ hybridization on Peripheral blood for Chronic Myeloid Leukaemia - Rapid and reliable method
Philadelphia chromosome (Ph) is found in more than 95% of Chronic Myeloid Leukaemia (CML) patients arising from the reciprocal translocation of chromosomes 9 and 22 which results in the formation of chimeric fusion gene BCR-ABL. This paved the path for targeted gene therapy in CML and thus plays a pivotal role in diagnosis and prognosis. Fluorescence in situ hybridization (FISH) is a rapid and ...
متن کاملNucleotide sequence of both reciprocal translocation junction regions in a patient with Ph positive acute lymphoblastic leukaemia, with a breakpoint within the first intron of the BCR gene.
Breakpoints on chromosome 22 in the translocation t(9;22) found in Philadelphia positive acute lymphoblastic leukaemia patients fall within two categories. In the first the breakpoint is localized within the breakpoint cluster region of the BCR gene, analogous to the chromosome 22 breakpoint in chronic myeloid leukaemia. The second category has a breakpoint 5' of this area, but still within the...
متن کاملDetection of abl/bcr Fusion Gene in Patients Affected by Chronic Myeloid Leukaemia by Dual-Colour Interphase Fluorescence in situ Hybridisation
Conventional cytogenetic is the standard technique for detection of Philadelphia (Ph) chromosome in chronic myeloid leukemia (CML). Evaluation of abelson murine leukemia/breakpoint cluster region (abl/bcr) fusion using dual-colour fluorescence in situ hybridization (D-FISH) is an alternative approach allowing rapid and reliable detection of the disease. We employed the technique of interphase D...
متن کاملThe incidence and patterns of BCR/ABL rearrangements in chronic myeloid leukaemia (CML) using fluorescence in situ hybridisation (FISH).
INTRODUCTION Chronic myeloid leukaemia (CML) is characterised by the formation of the BCR/ABL fusion gene, usually as a result of the Philadelphia (Ph) translocation between chromosomes 9 and 22. MATERIALS AND METHODS The incidence of both typical and atypical BCR/ ABL gene rearrangements was determined in 110 patients suspected of CML using dual fusion fluorescence in situ hybridisation (DF-...
متن کاملInvestigation of SMAD3 and SMAD4 genes expression in CML patients and K562 cell line and association with chronic myeloid leukemia
Aim and Background: Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder with cytogenetic characterization of the abnormal Philadelphia chromosome. This chromosome results from a reciprocal translocation between chromosomes 9 and 22. This is an important signaling pathway in the process of cancer cell proliferation and apoptosis, as well as the pathogenesis of TGF-β disease, i...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 22 5 شماره
صفحات -
تاریخ انتشار 1985