AMPLIFICATION OF c-MYC AND MLL GENES AS A MARKER OF CLONAL CELL PROGRESSION IN PATIENTS WITH MYELOID MALIGNANCY AND TRISOMY OF CHROMOSOMES 8 OR 11

被引：5

作者：

Angelova, S. ^{[1
]}

Jordanova, M. ^{[2
]}

Spassov, B. ^{[1
]}

Shivarov, V ^{[1
]}

Simeonova, M. ^{[3
]}

Christov, I ^{[4
]}

Angelova, P. ^{[3
]}

Alexandrova, K. ^{[5
]}

Stoimenov, A. ^{[1
]}

Nikolova, V ^{[1
]}

Dimova, I ^{[6
]}

Ganeva, P. ^{[1
]}

Tzvetkov, N. ^{[4
]}

Hadjiev, E. ^{[5
]}

Toshkov, S. ^{[1
]}

机构：

[1] Natl Specialized Hosp Act Therapy Hematol Dis, Lab Cytogenet & Mol Biol, Sofia 1756, Bulgaria

[2] Children Hosp Hematol Dis, Sofia, Bulgaria

[3] Med Univ Hosp, Dept Med Genet, Pleven, Bulgaria

[4] Med Univ Hosp, Dept Hematol, Pleven, Bulgaria

[5] Med Univ Hosp, Dept Hematol, Sofia, Bulgaria

[6] Med Univ, Dept Med Genet, Sofia, Bulgaria

来源：

BALKAN JOURNAL OF MEDICAL GENETICS | 2011年 / 14卷 / 02期

关键词：

Gene amplification (amp); c-MYC; MLL genes; Acute myeloid leukemia (AML); Myelodysplastic syndromes (MDS); Myeloid malignancies; Trisomy chromosomes of 8 or 11; MYELODYSPLASTIC SYNDROME; MULTIPLE COPIES; LEUKEMIA; OVEREXPRESSION; ABNORMALITIES; DUPLICATION; SURVIVAL; TARGET; CANCER; TUMORS;

D O I：

10.2478/v10034-011-0043-y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Gene amplification (amp) is one of the basic mechanisms connected with overexpression of oncogenes. The c-MYC (located in 8q24) and MLL (located in 11q23) are the most often over represented genes that lead to a rapid proliferation of the affected cell clone in patients with myeloid neoplasms. Assessment of the level of amp c-MYC or amp MLL in the cases with trisomy 8 (+8) or trisomy 11 (+11) and myeloid malignances is necessary for a more precise estimation of the disease progression. A total of 26 patients with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) were included in the study: 18 with +8, six with +11 and two with complex karyotypes suspected of the partial trisomy. Routine cytogenetic analysis and fluorescent in situ hybridization ( FISH) were applied to indicate the chromosome alterations and genes amp in the bone marrow cells. Amp c-MYC was observed in 12 from 18 (66.7%) patients with +8. All the patients with +11 demonstrated a different level of amp MLL. In most of the cases with MDS (9/10), the coincidence of the +8 or +11 with amp c-MYC or amp MLL, respectively, leads to transformation to AML and/or short overall survival. Our data suggest that amp c-MYC and amp MLL develop in conformity with +8 and +11, especially in cases with progressive deviations in the karyotype as an aggressive expansion of an aberrant cell clone and appearance of additional chromosome anomalies.

引用

页码：17 / 23

页数：7

共 41 条

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Karachaliou, Niki
Papadaki, Chara
Lagoudaki, Eleni
Trypaki, Maria
Sfakianaki, Maria
Koutsopoulos, Anastasios
Mavroudis, Dimitris
Stathopoulos, Efstathios
Georgoulias, Vassilis
Souglakos, John
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