Complex Tkanslocations Involving Chromosomes 15 and 17 in Acute Promyelocytic Leukaemia

Bernstein, R; Mendelow, B.; Pinto, M. R.; Morcom, G.; Bezwoda, W. R.

doi:10.1111/j.1365-2141.1980.tb05972.x

Cited by 38 publications

(5 citation statements)

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“…In general, different breakpoints in several chromosomes were observed. Involvement of the same breakpoint was observed three times: lp36 in 4 cases (19,20,21,22); 4q21 by Huret et al (23) and Berger et al (24) and 2q21 by Bernstein et al (25) and Bjerrum et al (26). The breakpoints observed by us have not been involved in other APL cases reported in the literature.…”

Section: Discussionsupporting

confidence: 73%

Four‐chromosomes complex translocations in acute promyelocytic leukemia: Description of two cases

Zaccaria

Testoni

Martinelli

et al. 1994

European J of Haematology

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Two cases of acute promyelocytic leukemia with variant translocations involving 4 chromosomes are described. The karyotypes were 47,XX, + 8,t(13;15;17;20)(q22;q22;q12;q13) and 46,XY,t(5;15;16;17)(q22;q22;p13;q12), respectively. Variant translocations in APL apparently do not follow any preferential routes since no recurrent breakpoint additional to those of chromosomes 15 and 17 has been found in any of the cases reported in the literature and in those described here. Moreover, it seems that the translocation of the RARα gene from chromosome 17 to chromosome 15 is directly involved in the pathogenesis of the disease, while the reciprocal one is not, as demonstrated by variant translocations where 15q migrates to chromosomes other than 17.

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Section: Discussionsupporting

confidence: 73%

Four‐chromosomes complex translocations in acute promyelocytic leukemia: Description of two cases

Zaccaria

Testoni

Martinelli

et al. 1994

European J of Haematology

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“…Among these translocations, 9 recurrent breakpoints have been identified, including 2q21 (5,14,26), 19p13 (5,24), 3p21 (7,8), 4q21 (13,15), 11q13 (18,21), 1p36 (16,19,22), 20p13 (23,31), 6p21 (27) and Xq13 (11,25). As a supplement, the present study reported another case of an APL patient harboring a three-way translocation involving chromosomes 3;17;15.…”

Section: Discussionmentioning

confidence: 64%

“…To date, >35 cases with three-way complex translocations have been reported (6)(7)(8)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30). Among these translocations, 9 recurrent breakpoints have been identified, including 2q21 (5,14,26), 19p13 (5,24), 3p21 (7,8), 4q21 (13,15), 11q13 (18,21), 1p36 (16,19,22), 20p13 (23,31), 6p21 (27) and Xq13 (11,25).…”

Section: Discussionmentioning

confidence: 99%

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A complex translocation (3;17;15) in acute promyelocytic leukemia confirmed by fluorescence in situ hybridization

Wang

Liu

et al. 2016

Oncology Letters

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Abstract. Acute promyelocytic leukemia (APL) is typified by t(15;17)(q22;q21), generating the promyelocytic leukemia (PML) gene at 15q22 with the retinoic acid α-receptor (RARA) gene at 17q21. The PML-RARA fusion gene is believed to play a vital role in leukemogenesis. A sizeable minority of patients with complex variants of APL have been reported. The present study reports the case of a 33-year-old male with APL carrying a potential complex translocation. The initial symptom was bleeding gums. Chromosomal analysis of the bone marrow cells revealed an atypical 17q aberration. Fluorescence in situ hybridization further indicated that 92% of analyzed cells were positive for the PML-RARA fusion gene. The patient experienced complete remission following treatment with arsenic trioxide and chemotherapy. The atypical translocations in acute promyelocytic leukemia require further investigation. IntroductionAcute promyelocytic leukemia (APL), a distinct subtype of acute myeloid leukemia, is defined by a specific balanced translocation, t(15;17), leading to the fusion of the promyelocytic leukemia (PML) and retinoic acid receptor-α (RARA) genes (1,2). The PML-RARA gene is supposed to play a vital role in the pathophysiological process of APL (3), and patients with the fusion gene could benefit from treatment with all-trans retinoic acid (ATRA) and AS 2 O 3 .As supported by fluorescence in situ hybridization (FISH) assessment, complex variant translocations of 15;17 have been increasingly reported in APL, while the majority of complex variants of APL have revealed three-way translocations (4,5). The current study presents the fifth three-way translocation involving chromosomes 3;17;15 (6-8), which may be the second breakpoint involving the long arm of chromosome 3 reported thus far. Written informed consent was obtained from the patient for the publication of this study. Case reportA 33-year-old male with no significant previous medical history was admitted to Yantai Yuhuangding Hospital (Yantai, Shandong, China) in July 2014 due to bleeding gums. A peripheral blood examination showed the following: Hemoglobin, 10.2 g/dl (normal, 13.0-17.5 g/dl); white blood cell count, 2.14x10 9 /l (normal, 3.5-9.5x10 9 /l), with 46% atypical promyelocytes packed with numerous azurophilic granules; and platelet count, 28x10 9 /l (normal, 125-350x10 9 /l). Coagulation tests revealed a prothrombin time of 19.4 sec (normal, 15 sec), an activated partial thromboplastin time of 41.8 sec (normal, 40 sec) and a fibrinogen level of 67 mg/dl. Bone marrow was markedly hypercellular, with 84.5% atypical promyelocytes. The promyelocytes were stained by allophycocyanin (APC)-conjugated cluster of differentiation (CD)33 (dilution, 1:2; catalog no. 340474), phycoerythrin (PE)-conjugated CD123 (dilution, 1:10; catalog no. 340545), APC-conjugated CD38 (dilution, 1:2; catalog no. 345807), PE-conjugated CD13 (dilution, 1:5; catalog no. 347837) and PerCP-conjugated CD45 (dilution, 1:5; catalog no. 347464). All of the antibodies were monoclonal, composed of ...

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“…Molecular and cytogenetic characterization of variant translocations is important for a better understanding of the pathogenesis of the disease and to predict the response to ATRA treatment [16][17][18][19][20]. APL patients with three-way complex translocations have been reported [5][6][7][8][9][10][11][12][13][14][15][21][22][23][24][25][26][27][28][29][30], most of which have revealed recurrent chromosomal aberrations. Here, we report a new case of APL with complex translocation involving chromosomes 15, 22, and 17, carried with PML/RARA mRNA expression.…”

Section: Introductionmentioning

confidence: 99%

A new three-way variant t(15;22;17)(q22;q11.2;q21) in acute promyelocytic leukemia

et al. 2009

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Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), which results in the fusion of the promyelocytic leukemia (PML) gene at 15q22 with the retinoic acid alpha-receptor (RARA) at 17q21. We report the case of a 44-year-old man with APL carrying a new complex variant translocation (15;22;17). Karyotypic analysis with G-banding of bone marrow cells revealed t(15;22;17) (q22;q11.2;q21). Fluorescence in situ hybridization with a PML/RARA dual-color DNA probe showed the fusion signals. RT-PCR analysis showed long-form PML/RARA fusion transcripts. A complete remission was attained with a course of conventional chemotherapy with all-trans retinoic acid (ATRA). This is the first report of a new three-way translocation of 22q11 involvement with APL.

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Complex Tkanslocations Involving Chromosomes 15 and 17 in Acute Promyelocytic Leukaemia

Cited by 38 publications

References 9 publications

Four‐chromosomes complex translocations in acute promyelocytic leukemia: Description of two cases

Four‐chromosomes complex translocations in acute promyelocytic leukemia: Description of two cases

A complex translocation (3;17;15) in acute promyelocytic leukemia confirmed by fluorescence in situ hybridization

A new three-way variant t(15;22;17)(q22;q11.2;q21) in acute promyelocytic leukemia

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