RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome

被引：11

作者：

Roberti, Maria Cristina

La Starza, Roberta ^{[2
]}

Surace, Cecilia ^{[1
]}

Sirleto, Pietro

Pinto, Rita Maria ^{[1
]}

Pierini, Valentina ^{[2
]}

Crescenzi, Barbara ^{[2
]}

Mecucci, Cristina ^{[2
]}

Angioni, Adriano

机构：

[1] Bambino Gesu Pediat Hosp, Dept Hematol, I-00165 Rome, Italy

[2] Univ Perugia, Fdn IRCCS Biotecnol Trapianto, IbiT Fdn, I-06100 Perugia, Italy

来源：

VIRCHOWS ARCHIV | 2009年 / 454卷 / 03期

关键词：

Acute myeloid leukemia; Klinefelter syndrome; SQUAMOUS-CELL CARCINOMA; HEMATOLOGIC MALIGNANCIES; MYELODYSPLASTIC SYNDROME; DISORDERS; PATIENT; ABNORMALITIES; T(Y-1)(Q12-Q21); TRANSLOCATIONS; IDENTIFICATION; CHROMOSOMES;

D O I：

10.1007/s00428-009-0732-z

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

In this study, we report the molecular cytogenetic characterization of an acute myeloid leukemia with a der(Y)t(Y;1)(q12;q25) in bone marrow cells in a child with Klinefelter syndrome. Conventional cytogenetics demonstrated the unbalanced translocation, i.e., a trisomic 1q25-qter juxtaposed to Yq12 replaced the terminal segment of chromosome Y was acquired and present only on bone marrow cells. Fluorescence in situ hybridization showed that the breakpoint at 1q25 disrupted RABGAP1L, a strongly expressed gene in CFU-GEMM, erythroid cells, and megakaryocytes, while the Yq12 breakpoint fell within the heterochromatic region. As der(Y)t(Y;1)(q12;q25) was an isolated cytogenetic change, RABGAP1L rearrangement as well as gene(s) dosage effects correlated to 1q25-qter trisomy, and Yq12-qter loss may make a major contribution to leukemogenesis and/or disease progression.

引用

页码：311 / 316

页数：6

共 38 条

[1] Extragonacial germ cell tumors are often associated with Klinefelter syndrome [J].