A cytogenetic study of 397 consecutive acute myeloid leukemia cases identified three with a t(7;21) associated with 5q abnormalities and exhibiting similar clinical and biological features, suggesting a new, rare acute myeloid leukemia entity

Jeandidier, Éric; Gervais, Carine; Radford‐Weiss, Isabelle; Zink, Estelle; Gangneux, Catherine; Eischen, Alice; Galoisy, Anne; Hélias, Catherine; Dano, Laurent; Cammarata, Ornella; Jung, Georges; Harzallah, Inès; Guérin, Éric; Martzolff, Lionel; Drénou, Bernard; Lioure, Bruno; Tancrédi, Céline; Rimelen, Valérie; Mauvieux, Laurent

doi:10.1016/j.cancergen.2012.04.007

Cited by 17 publications

(18 citation statements)

References 24 publications

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“…Since the AML M0 subset makes up <5% of all AMLs (14), it seems likely that the 7;21-translocation is unusual in leading to this particular undifferentiated myeloid leukemia in a dysproportionate number of cases (admittedly, they may also display monocytic differentiation according to a few reports). These leukemias are immunophenotypically characterized by the aberrant expression of CD7 as well as CD56 (present case and 5 previously reported cases) (9,12,13). …”

Section: Discussionsupporting

confidence: 53%

“…Notably, AML with t(7;21) seems to be associated with AML-M0 [our patient was also undifferentiated AML-M0] or myelomonocytic differentiation. One patient was found to present with MDS RAEB-2 (11,12). Since the AML M0 subset makes up <5% of all AMLs (14), it seems likely that the 7;21-translocation is unusual in leading to this particular undifferentiated myeloid leukemia in a dysproportionate number of cases (admittedly, they may also display monocytic differentiation according to a few reports).…”

Section: Discussionmentioning

confidence: 99%

“…Paulsson et al (9) screened 35 additional AML cases, Foster et al (11) screened 100 AML/MDS with normal karyotypes, and Giguére and Hebert (13) examined 95 leukemias without finding additional cases of RUNX1-USP42 . Jeandidier et al (12) studied 397 AML cases and found only 3 cases with RUNX1-USP42 fusion. An interesting observation was that all 3 had additional 5q abnormalities resulting in loss of material from that chromosome arm.…”

Section: Discussionmentioning

confidence: 99%

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Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion

et al. 2013

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The rare but recurrent RUNX1-USP42 fusion gene is the result of a t(7;21)(p22;q22) chromosomal translocation and has been described in 6 cases of acute myeloid leukemia (AML) and one case of refractory anemia with excess of blast. In the present study, we present the molecular genetic analysis and the clinical features of a t(7;21)(p22;q22)-positive AML case. PCR amplified two RUNX1-USP42 cDNA fragments but no reciprocal USP42-RUNX1 fragment indicating that the RUNX1-USP42 is the leukemogenic fusion gene. Sequencing of the two amplified fragments showed that exon 6 or exon 7 of RUNX1 (accession number NM_001754 version 3) was fused to exon 3 of USP42 (accession number NM_032172 version 2). The predicted RUNX1-USP42 fusion protein would contain the Runt homology domain (RHD), which is responsible for heterodimerization with CBFB and for DNA binding, and the catalytic UCH (ubiquitin carboxyl terminal hydroxylase) domain of the USP42 protein. The bone marrow cells in the present case also had a 5q deletion, and it was revealed that 5 out of the 8 reported cases (including the present case) with t(7;21)(p22;q22)/RUNX1-USP42 also had cytogenetic abnormalities of 5q. The fact that t(7;21) and 5q- occur together much more often than chance would allow seems to be unquestionable, although the pathogenetic connection between the two aberrations remains unknown.

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Section: Discussionsupporting

confidence: 53%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion

et al. 2013

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“…One of the genes located on chromosome 5q is ribosomal protein S14 ( RPS14 ), which is essential for the maintenance of normal erythroid progenitor cells [10]. Loss of chromosome 5q causes haploinsufficiency of RPS14 [18].…”

Section: Discussionmentioning

confidence: 99%

Acute myeloid leukemia with t(7;21)(p22;q22) and 5q deletion: a case report and literature review

Loo

Pullarkat

et al. 2014

Exp Hematol Oncol

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The gene RUNX1 at chromosome 21q22 encodes the alpha subunit of Core binding factor (CBF), a heterodimeric transcription factor involved in the development of normal hematopoiesis. Translocations of RUNX1 are seen in several types of leukemia with at least 21 identified partner genes. The cryptic t(7;21)(p22;q22) rearrangement involving the USP42 gene appears to be a specific and recurrent cytogenetic abnormality. Eight of the 9 cases identified in the literature with this translocation were associated with acute myeloid leukemia (AML), with the remaining case showing refractory anemia with excess blasts, type 2. Herein, we present a patient with two preceding years of leukopenia and one year of anemia prior to the diagnosis of AML, NOS with monocytic differentiation (myelomonocytic leukemia) whose conventional cytogenetics showed an abnormal clone with 5q deletion. Interphase FISH using LSI RUNX1/RUNXT1 showed three signals for RUNX1. FISH studies on previously G-banded metaphases showed the extra RUNX1 signal on the short arm of chromosome 7. Further characterization using the subtelomeric 7p probe showed a cryptic 7;21 translocation. Our case and eight previously reported leukemic cases with the t(7;21)(p22;q22) appear to share similar features including monocytic differentiation, immunophenotypic aberrancies (often with CD56 and/or CD7), and a generally poor response to standard induction chemotherapy. About 80% of these cases had loss of 5q material as an additional abnormality at initial diagnosis or relapse. These findings suggest that t(7;21) may represent a distinct recurrent cytogenetic abnormality associated with AML. The association between the t(7;21) and 5q aberrancies appears to be non-random, however the pathogenetic connection remains unclear. Additional studies to evaluate for RUNX1 partner genes may be considered for AML patients with RUNX1 rearrangement and 5q abnormalities; however knowledge of the prognostic implications of this rearrangement is still limited.

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“…AML is associated with 5q abnormalities and hyperploidy [1234567]. In terms of t(6;7), this abnormality was reported in three AML cases as a mainline abnormality included in complex chromosomal abnormality [8910].…”

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confidence: 99%