Trisomy 11 in chronic myelomonocytic leukemia: Report of two cases and review of the literature

Takasaki, N; Kaneko, Yasuhiko; Maseki, Nobuo; Sakurai, Masaharu

doi:10.1016/0165-4608(88)90098-2

Cited by 24 publications

(13 citation statements)

References 23 publications

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“…This is an infrequent nonrandom chromosomal aberration observed in AML or myelodysplastic syndrome (MDS). More than 50 cases have been reported, [13][14][15][16][17][18] but trisomy 11 does not correlate with any specific subtype of the FAB classification. AML with trisomy 11 was shown to be associated with a stem/progenitor cell immunophenotype with myeloid antigen expression and is characterized by poor response to standard chemotherapy and an unfavorable prognosis.…”

Section: Introductionmentioning

confidence: 99%

Screening for MLL tandem duplication in 387 unselected patients with AML identify a prognostically unfavorable subset of AML

Schnittger¹,

Kinkelin

Schoch³

et al. 2000

Leukemia

262

204

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Partial tandem duplications of the MLL gene have been associated with trisomy 11 in acute myeloid leukemia (AML) and recently, have also been reported for karyotypically normal AML. In order to test the incidence and prognostic importance of this molecular marker, we have analyzed eight cases of AML with trisomy 11 and 387 unselected consecutive cases with AML for partial duplications of the MLL gene. Patients with normal karyotypes and those with various chromosome aberrations were included. De novo as well as secondary leukemias including all FAB subtypes were analyzed. Performing a onestep RT-PCR with 35 cycles using an exon 9 forward primer and an exon 3 reverse primer partial tandem duplications of the MLL gene were demonstrated in 3/8 (37.5%) patients with trisomy 11. In addition, 13/387 (3.4%) of unselected cases revealed a tandem duplication. Ten of these 13 cases were cytogenetically normal, the other three cases had р2 additional chromosomal alterations. Sequencing of the RT-PCR products of all 16 positive cases revealed fusions of MLL exon 9/exon 3 (e9/e3) (six cases), e10/e3 (three cases), e11/e3 (four cases) or combinations of differentially spliced e10/e3 and e11/e3 (three cases) transcripts. The duplications were confirmed by genomic long range PCR and Southern blot hybridization. Twelve cases with the MLL duplication were de novo myeloid leukemia, one was a secondary AML after MDS, three were therapyrelated AML (t-AML). Of the 16 MLL-duplication positive cases, seven were classified as FAB M2, two as M1, five as M4, one as M0, one as M5b. The mean age was 62.3 years for patients with MLL duplication vs 50.3 years for the control group. Of 15 adult patients, 12 received treatment. Of these, three were nonresponders, five had early relapse (р6 months), four relapsed between 7 and 12 months. Median survival and relapse-free interval of the MLL duplication positive group was significantly worse than those of an age-matched karyotypically normal control group. In conclusion, MLL tandem duplications (1) are less common than previously reported; (2) are preferentially observed in AML with normal karyotypes, but can also be found in the presence of chromosome alterations; (3) are not strongly associated with an FAB subtype; (4) were not observed with the prognostically favorable t(8;21), inv(16), and t(15;17), other recurrent translocations, or in complex karyotypes; and (5) identifies a subgroup of patients with an unfavorable prognosis. Leukemia (2000) 14, 796-804.

show abstract

Section: Introductionmentioning

confidence: 99%

Screening for MLL tandem duplication in 387 unselected patients with AML identify a prognostically unfavorable subset of AML

Schnittger¹,

Kinkelin

Schoch³

et al. 2000

Leukemia

262

204

View full text Add to dashboard Cite

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“…[6][7][8][9][10][11][12] The clinicopathologic aspects of this neoplasm are not well defined, largely because of the rarity of this abnormality compared with other well-characterized cytogenetic alterations in MDS and MDS/MPN. According to the 1997 International Prognostic Scoring System (IPSS), 13 trisomy 11 is grouped together with other miscellaneous single chromosomal aberrations within the intermediate-risk cytogenetic group.…”

Section: Introductionmentioning

confidence: 99%

Trisomy 11 in myelodysplastic syndromes defines a unique group of disease with aggressive clinicopathologic features

Wang

Jabbar

et al. 2010

Leukemia

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“…Estimating the prevalence or incidence of cmml harbouring trisomy 11 is difficult because of the scarcity of published studies and the infrequency of cases 5,10 . In a large study of 1084 patients with mds, trisomy 11 was found in 28 patients (prevalence of 3%), mostly as part of complex karyotypes instead of as an isolated abnormality 11 .…”

Section: Discussionmentioning

confidence: 99%

“…Various risk stratifications have correlated certain cytogenetic abnormalities [+8, -Y, -7/7q-, 20q-, +21, and der(3q)] with survival outcomes 8,9 . However, none of the stratification models include trisomy 11, a rare chromosomal abnormality in cmml 5,7 .…”

Section: Discussionmentioning

confidence: 99%

“…However, few reports about cmml patients with trisomy 11 have been published. A few such cases appear in the literature from the late 1980s and 1990s [5][6][7] , but no recent reports on the incidence, prognosis, and clinical significance of this uncommon cytogenetic abnormality have been published. Here, we report a patient with cmml having trisomy 11 as the sole chromosomal abnormality.…”

Section: Introductionmentioning

confidence: 99%

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Adult Chronic Myelomonocytic Leukemia with Trisomy 11: A Case Report

et al. 2017

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Chronic myelomonocytic leukemia (cmml) is an indolent disease in the category of myelodysplastic and myeloproliferative neoplasms, which can often evolve into acute leukemic neoplasms. Although cytogenetic abnormalities such as trisomy 8 or absence of chromosome Y are well known, few reports about cmml with trisomy 11 have been published. Here, we report a case of cmml with trisomy 11 as the sole chromosomal abnormality, resulting in a very poor outcome.Based on a bone marrow specimen, cmml-1 with trisomy 11 was diagnosed in a 79-year-old man presenting with anemia and atypical peripheral blood cells. Because of the patient's age, he was followed without receiving anticancer treatment. Two months after his diagnosis, the patient's leucocytosis and anemia rapidly worsened, with increasing numbers of immature peripheral cells, which was strongly suggestive of leukemic transformation. Because of acute kidney injury superimposed on chronic kidney disease that led to poor performance status, cytotoxic chemotherapy was not considered feasible, and the patient was transferred to a hospice care facility.

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Trisomy 11 in chronic myelomonocytic leukemia: Report of two cases and review of the literature

Cited by 24 publications

References 23 publications

Screening for MLL tandem duplication in 387 unselected patients with AML identify a prognostically unfavorable subset of AML

Screening for MLL tandem duplication in 387 unselected patients with AML identify a prognostically unfavorable subset of AML

Trisomy 11 in myelodysplastic syndromes defines a unique group of disease with aggressive clinicopathologic features

Adult Chronic Myelomonocytic Leukemia with Trisomy 11: A Case Report

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