A case of atypical myelodysplastic syndrome with micromegakaryocytes, normal platelet count, and t(3;12)(q21;p13) with inv(3)(q21q26)

Schnittger, Susanne; Schoch, Claudia; Streubel, Berthold; Hinrichs, H.; Otremba, Burkhardt; Parwaresch, R.; Fonatsch, Christa

doi:10.1002/(sici)1098-2264(199711)20:3<292::aid-gcc10>3.0.co;2-r

Cited by 7 publications

(3 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our series of patients with 12p abnormality we were able to identify two cases with breakpoints not only in 3q26 but also in 3q21. Patient 33 with a paracentric inversion inv(3)(q21q26) and translocation of the rearranged 3q arm to 12p has been recently described by us (Schnittger et al, 1997) and surprisingly presented a very mild clinical course. In this case a juxtaposition of 3q26 and 12p13 was due to the inversion/translocation.…”

Section: Discussionmentioning

confidence: 95%

Correlation of cytogenetic, molecular cytogenetic, and clinical findings in 59 patients with ANLL or MDS and abnormalities of the short arm of chromosome 12

et al. 1998

Self Cite

View full text Add to dashboard Cite

Summary. Abnormalities of the short arm of chromosome 12 (12p) are found in about 5% of acute nonlymphocytic leukaemias (ANLL) and myelodysplastic syndromes (MDS). They are described to be characteristic of secondary leukaemias, especially after prior mutagenic exposure, and to be associated with a poor prognosis. In our series of 59 patients with 12p abnormalities and ANLL or MDS, exposure to genotoxic agents was proven only in five patients, but in 13/44 patients ANLL evolved from an MDS. Patients with a small deletion del(12)(p11.2p13) having a mild clinical course were distinguished from those with a large del(12)(p11.2), additional chromosomal anomalies, and a poor clinical course. Among the 31 patients with translocations or dicentric chromosomes involving 12p, a group of eight with t/dic(12;13) was the most frequent and was associated with a poor prognosis. The clinical outcome was adverse in the majority of patients with complex karyotype abnormalities, but in some patients a milder clinical course seems likely. A new, hitherto undescribed, abnormality in an MDS case with a duplication dup(12)(p11.2p13) was the amplification of the signal of the yeast artificial chromosome (YAC) clone 964c10 (D12S736). In 38 cases with deletions or unbalanced translocations/dicentrics one YAC signal was lost. Five patients with balanced translocations demonstrated breakpoints within the YAC, containing the ETV6 (TEL) gene. The breakpoints were telomeric to the YAC 964c10 in seven cases and centromeric in one patient.

show abstract

Section: Discussionmentioning

confidence: 95%

Correlation of cytogenetic, molecular cytogenetic, and clinical findings in 59 patients with ANLL or MDS and abnormalities of the short arm of chromosome 12

et al. 1998

Self Cite

View full text Add to dashboard Cite

show abstract

“…It is notable that in humans aberrant expression of EVI1 has been implicated in MDS (myelodysplastic syndrome). 7,36,37 MDS is characterized by the clinical manifestation of bone marrow failure as well as the tendency to evolve into acute leukemias. 38 Therefore, this observed phenotype in male line No.…”

Section: Discussionmentioning

confidence: 99%

Erythroid defects and increased retrovirally-induced tumor formation in Evi1 transgenic mice

et al. 2000

View full text Add to dashboard Cite

Aberrant expression of the Evi1 (ecotropic virus integration site 1) proto-oncogene has been associated with hematopoietic malignancies in both mice and man. To determine the effect of enforced expression of Evi1 in vivo, we developed a transgenic mouse model utilizing the murine Sca-1 (Ly-6E.1) promoter. Here, we describe the generation and analysis of three independent lines of Evi1 transgenic mice. Transgenic animals of two founder lines developed normally. These mice did not show any obvious hematological abnormalities but showed a significant reduction in the number of bone marrow colony-forming unit erythroid (CFU-E)-derived colonies. This implies a defect of normal erythroid hematopoiesis affecting relatively late erythroid progenitor cells. We also show that when newborn Evi1 transgenic mice of these two lines were infected with Cas-Br-M MuLV, tumor incidence was greatly enhanced in comparison with nontransgenic littermates, indicating an increased susceptibility for leukemia development. Interestingly, analysis of a third founder line revealed that all male progeny consistently displayed severely impaired erythropoiesis with major defects in the bone marrow, spleen and peripheral blood. Taken together, our results present the first evidence of Evi1 disturbing normal erythropoiesis in vivo and provides evidence for cooperative potential of Evi1 in tumor progression. Leukemia (2000) 14, 1876-1884.

show abstract

“…In contrast, all but one case [13] of t(3;12)(q26;p13), although showing the typical resistance to chemotherapy and megakaryocytic dysplasia of AML secondary to MDS, displayed normal or low platelet counts at diagnosis. Interestingly, 2 cases of t(3;12)(q26;p13) associated with inversion of 3q21q26 have been reported [17,18], and both presented with thrombocytopenia, suggesting that the translocation t(3;12)(q26;p13) is not particularly associated with thrombocytosis, even when accompanied by inv(3)(q21;q26).…”

Section: Discussionmentioning

confidence: 99%

Acute myelogenous leukemia with the t(3;12)(q26;p13) translocation: Case report and review of the literature

Voutsadakis¹,

Maillard²

2003

American J Hematol

View full text Add to dashboard Cite

Translocations involving the EVI1/MDS1 gene at 3q26 and the TEL gene at 12p13 are comparatively common in acute leukemia, but a translocation between the two genes has been reported only in a handful of cases. We report an additional case of acute myelogenous leukemia (AML) preceded by a myelodysplastic syndrome (MDS) with the translocation t(3;12)(q26;p13) in a 36-year-old woman. The translocation was present early in the disease and long before the MDS progressed to AML 3 years after diagnosis. At the time of progression to AML, an additional chromosomal abnormality, a monosomy 22, was discovered. The patient was treated with the protocol MAQ, which comprised mitoxantrone, aracytine, and quinine, as her blasts expressed the p-glycoprotein, but she failed to obtain remission. A second treatment with the same protocol resulted in only minimal response. The patient was treated again with high-dose Ara-C and idarubicine in an attempt to achieve a response before allogeneic unrelated transplantation, but she did not respond to the treatment and died shortly thereafter. A review of the literature revealed 12 other cases of the t(3;12)(q26;p13) translocation. Characteristics of those cases are reviewed in this article. Am. J. Hematol. 72:135-137, 2003.

show abstract

A case of atypical myelodysplastic syndrome with micromegakaryocytes, normal platelet count, and t(3;12)(q21;p13) with inv(3)(q21q26)

Cited by 7 publications

References 22 publications

Correlation of cytogenetic, molecular cytogenetic, and clinical findings in 59 patients with ANLL or MDS and abnormalities of the short arm of chromosome 12

Correlation of cytogenetic, molecular cytogenetic, and clinical findings in 59 patients with ANLL or MDS and abnormalities of the short arm of chromosome 12

Erythroid defects and increased retrovirally-induced tumor formation in Evi1 transgenic mice

Acute myelogenous leukemia with the t(3;12)(q26;p13) translocation: Case report and review of the literature

Contact Info

Product

Resources

About