A new variant translocation 11;17 in a patient with acute promyelocytic leukemia together with t(7;12)

Najfeld, Vesna; Scalise, Angela; Troy, Kevin

doi:10.1016/0165-4608(89)90133-7

Cited by 11 publications

(6 citation statements)

References 18 publications

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“…Three variant translocations have been described involving chromosome 15 and eight involving chromosome 17 (Mitelman, 1991). One of the variant translocations, (1 1; 17)(q13;q12), was reported for the first time by us (Najfeld et al, 1989) and subsequently was identified in a Chinese patient who did not respond to ATRA therapy (Chen 2, 1993a (Chen et al, 1992a(Chen et al, , 1993a. T h e PLZF gene, localized on llq23.1 (Chen et al, 1993b), encodes a potential transcription factor containing nine zinc finger motifs related to the Drosophila segmentation gene Kriippel (Chen et al, 1993a).…”

Section: Introductionmentioning

confidence: 93%

Myelodysplastic syndrome transforming to acute promyelocytic‐like leukemia with trisomy and rearrangement of chromosome II

Najfeld¹,

Chen

Scalise³

et al. 1994

Genes Chromosomes & Cancer

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Variants of the t(15;17)(q22;q12-q21) chromosomal rearrangement associated with acute promyelocytic leukemia (APL) have been previously described and they frequently involve either chromosome 15 and/or 17. Previously we reported a rare variant t(11;17). We now describe two patients with myelodysplastic syndrome (MDS) that transformed to APL-like leukemia. Both had trisomy 11 at the diagnosis of APL-like leukemia. Following treatment for APL, patient 1 reverted to MDS and showed a normal karyotype. When leukemia recurred, his bone marrow karyotype was 47,XY,t(4;11), +11,der(22)t(1;22). Both patients were treated with all-trans retinoic acid (ATRA) for APL for 5 weeks, but failed to respond. The karyotype of patient 1 after ATRA treatment was 46,XY,t(4;11); the trisomy 11 had been lost and the bone marrow was replaced with immature myeloblasts without promyelocytes. In patient 2, the karyotype remained the same as at diagnosis, i.e., 47,X,-Y,dir ins(4;7),del(5), +6,del(7), +8, + 11,-18. Molecular analysis by reverse transcriptase PCR analysis showed the presence of wild type retinoic acid receptor alpha (RARA) and the absence of the PML-RARA chimeric gene associated with t(15;17). Additional analysis of PLZF, a new zinc finger gene associated with t(11;17), also showed the absence of this hybrid gene. These data support the concept that APL is a heterogeneous disorder and that variants with chromosome 11 rearrangement exist that do not respond to ATRA.

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Section: Introductionmentioning

confidence: 93%

Myelodysplastic syndrome transforming to acute promyelocytic‐like leukemia with trisomy and rearrangement of chromosome II

Najfeld¹,

Chen

Scalise³

et al. 1994

Genes Chromosomes & Cancer

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“…Secondly, two independent reports have described a reciprocal translocation between chromosomes 11 and 17 in APL, although the breakpoint positions on chromosome 11 were described variously as llq13 (Najfeld et al, 1989) and 11q22-23 . These breakpoints may identify a third fusion partner for RARA on chromosome arm l l q .…”

Section: Discussionmentioning

confidence: 98%

“…Professor K. M. Troy, for information on the t(11;17)(q13;q12) (Najfeld et al, 1989); Professor K. Yamada, for information on the t(1;17)(p36;q21) and t(8;17)(pZl;q12) (Yamada et al, 1983); and Professor K. Schwartz for information on the t(1;17)(p36;q21) (Schwartz et al, 1986). We also thank A. Baldini for his guidance in image capture and processing.…”

Section: Acknowledgmentsmentioning

confidence: 99%

Molecular analysis of simple variant translocations in acute promyelocytic leukemia

Borrow

Shipley

Howe

et al. 1994

Genes Chromosomes & Cancer

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The primary cytogenetic abnormality in acute promyelocytic leukemia (APL; FAB M3) is a reciprocal translocation, t(15;17)(q22;q12), which serves to fuse the PML gene on chromosome 15 to the retinoic acid receptor alpha (RARA) gene on chromosome 17. A PML-RARA fusion message transcribed from the der(15) is thought to mediate leukemogenesis. Two APL patients with simple variants of this translocation, t(3;15)(q21;q22) and t(X;15)(p11;q22), have previously been reported who lack cytogenetic involvement of chromosome 17, although their breakpoint positions on chromosome 15 still suggest the involvement of the PML gene. Here we report on a combined analysis by molecular genetics and in situ hybridization of these two patients, in which we wanted to determine whether the PML gene has alternative fusion partners or whether cryptic rearrangement of the RARA locus has occurred instead. A cryptic involvement of RARA was demonstrated in both patients by a combination of Southern analysis, reverse transcription coupled to PCR (RT-PCR), and fluorescence in situ hybridization. The results indicate an absolute requirement for the rearrangement of the RARA gene in the pathogenesis of APL and underline the importance of RARA during normal myeloid differentiation.

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“…It seemed that, because of the higher number of reported cases with anomalies of 17q, the changes affecting the long arm of chromosome 17 were more important [10] than those affecting the long arm of chromosome 15. Our case would have supported this hypothesis, however, since the understanding of the molecular events is associated with the t(15;17), it is obvious that both changes are equally essential.…”

Section: Discussionmentioning

confidence: 99%

“…This evidence justifies the role of the RARa gene rearrangement in the disease but, unfortunately, tells nothing about whether the rearrangement also involves the PML gene. It has been proposed that the genetic events in APL with variant translocations could resemble those occurring in CML, which always involve BCR and ABL rearrangements [8,10]. However, more molecular studies are needed to documentate such a hypothesis.…”

Section: Discussionmentioning

confidence: 99%

A variant t(14;17) in acute promyelocytic leukemia Positive response to retinoic acid treatment

Cigudosa

Calasanz

Odero

et al. 1995

Cancer Genetics and Cytogenetics

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A new variant translocation 11;17 in a patient with acute promyelocytic leukemia together with t(7;12)

Cited by 11 publications

References 18 publications

Myelodysplastic syndrome transforming to acute promyelocytic‐like leukemia with trisomy and rearrangement of chromosome II

Myelodysplastic syndrome transforming to acute promyelocytic‐like leukemia with trisomy and rearrangement of chromosome II

Molecular analysis of simple variant translocations in acute promyelocytic leukemia

A variant t(14;17) in acute promyelocytic leukemia Positive response to retinoic acid treatment

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