Cytogenetic and molecular analysis of a “masked” Philadelphia chromosome in chronic and blastic phases of chronic myeloid leukemia

Zitzelsberger, Horst; Bauchinger, M.; Wilmanns, W.; Strauss, P G

doi:10.1016/0165-4608(90)90031-5

Cited by 8 publications

(3 citation statements)

References 26 publications

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“…The chromosomal translocation t(12;13)(p12; q14) is a rare, but recurrent event. Unlike other translocations that are usually limited to a specific disease type, balanced and/or unbalanced t(12; 13)(p12;q14) have been described in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) (Uckun et al, 1989;Raimondi et al, 1991;Wlodarska et al, 1998), T-cell precursor ALL (TCP-ALL) (Raimondi et al, 1991), undifferentiated and differentiated myeloblastic leukemia (Keene et al, 1987;Tosi et al, 1994Tosi et al, , 1998Fugazza et al, 1997;La Starza et al, 1998;Streubel et al, 1998) as well as during blastic transformation of chronic myeloid leukemia (CML) (Zitzelsberger et al, 1990). We report here the fluorescence in situ hybridization (FISH) characterization of ten cases with t(12; 13)(p12;q12-q14), one case with a related translocation t(12;13)(q21;q14), one case of t(10;13)(q24; q14), and one case of t(9;13)(p21;q14).…”

Section: Introductionmentioning

confidence: 99%

Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia

Coignet

Lima

Min

et al. 1999

Genes Chromosom. Cancer

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Abnormalities of chromosome band 13q14 occur in hematologic malignancies of all lineages and at all stages of differentiation. Unlike other chromosomal translocations, which are usually specific for a given lineage, the chromosomal translocation t(12;13)(p12;q14) has been observed in both B‐cell and T‐cell precursor acute lymphoblastic leukemia (BCP‐, TCP‐ALL), in differentiated and undifferentiated acute myeloblastic leukemia (AML), and in chronic myeloid leukemia (CML) at progression to blast crisis. The nature of these translocations and their pathologic consequences remain unknown. To begin to define the gene(s) involved on chromosome 13, we have performed fluorescence in situ hybridization (FISH) using a panel of YACs from the region, on a series of 10 cases of acute leukemia with t(12;13)(p12;q14) and 1 case each with “variant” translocations including t(12;13)(q21;q14), t(10;13)(q24;q14) and t(9;13)(p21;q14). In 8/13 cases/cell lines, the 13q14 break fell within a single 1.4 Mb CEPH MegaYAC. This YAC fell immediately telomeric of the forkhead (FKHR) gene, which is disrupted in the t(2;13)(q35;q14) seen in pediatric alveolar rhabdomyosarcoma. Seven of the 8 cases with breaks in this YAC were AML. In 4/13 cases, the 13q14 break fell within a 1.7‐Mb YAC located about 3 Mb telomeric of the retinoblastoma (RB1) gene: all 4 cases were ALL. One case of myelodysplastic syndrome exhibited a break within 13q12, adjacent to the BRCA2 gene. These data indicate the presence of myeloid‐ and lymphoid‐specific breakpoint cluster regions within chromosome band 13q14 in acute leukemia. Genes Chromosomes Cancer 25:222–229, 1999. © 1999 Wiley‐Liss, Inc.

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Section: Introductionmentioning

confidence: 99%

Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia

Coignet

Lima

Min

et al. 1999

Genes Chromosom. Cancer

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“…Myeloid cases: 1 chronic myelomonocytic leukaemia (CMML), 1 chronic myelogenous leukaemia in blast crisis (BC-CML), 1 M3 acute myeloid leukaemia (AML), 1 M0-AML, and 2 treatment related AML (t-AML). In contrast with lymphoid cases, the sex ratio was balanced (3M/3F), and median age was 58 years (range (51-70) (Zitzelsberger et al, 1990;Abeliovich et al, 1993;Fugazza et al, 1997;Tosi et al, 1998;Castro et al, 2000;Temperani et al, 2000).…”

Section: Clinicsmentioning

confidence: 99%

t(12;13)(p13;q14)

Huret¹

2011

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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“…t(12;13) is a rare, but recurring chromosome translocation described in a wide spectrum of leukemias including acute lymphoblastic leukemia (ALL), [23][24][25][26][27] AML, [28][29][30][31][32][33][34] CML, 35 CLL, and MDS. 30 A literature search revealed at least 35 or more cases with t(12;13) harboring breakpoints cytogenetically scattered from 12p11 to 12p13 and from 13q11 to 13q34.…”

Section: Introductionmentioning

confidence: 99%

Identification of a novel fusion gene, TTL, fused to ETV6 in acute lymphoblastic leukemia with t(12;13)(p13;q14), and its implication in leukemogenesis

et al. 2003

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ETS variant gene 6 (ETV6)/translocation, ETS, leukemia (TEL)-involving chromosomal translocations are frequently observed in various hematologic neoplasms. We describe here a novel ETV6-involving translocation, t(12;13)(p13;q14), found in the case of acute lymphoblastic leukemia, in which ETV6 fused with a previously unknown gene, named Twelve-thirteen Translocation Leukemia gene (TTL), at 13q14. TTL was weakly but ubiquitously expressed in normal human tissues as detected by reverse transcribed-PCR. Three TTL splicing forms were identified, TTL-T from a human testis cDNA library, with an open-reading frame of 402 bp encoding 133 amino acids (aa), and TTL-B1 and -B2 from a human brain cDNA library. These proteins have no homology to known proteins. In leukemic cells from the patient, both reciprocal fusion transcripts, ETV6/TTL and TTL/ETV6, were expressed. The predominant fusion transcript, TTL/ETV6-1, encodes a predicted 530 aa fusion protein containing 89 aa of the N-terminal TTL fusing to the helix-loop-helix domain and ETS-binding domain of ETV6. Although the function of TTL is yet to be elucidated, our findings will provide another insight into the molecular pathogenesis of leukemia having ETV6-involving translocations.

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Cytogenetic and molecular analysis of a “masked” Philadelphia chromosome in chronic and blastic phases of chronic myeloid leukemia

Cited by 8 publications

References 26 publications

Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia

Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia

t(12;13)(p13;q14)

Identification of a novel fusion gene, TTL, fused to ETV6 in acute lymphoblastic leukemia with t(12;13)(p13;q14), and its implication in leukemogenesis

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