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Gene discovery in uterine leiomyoma using cytogenetic approaches

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Resumo:Uterine Leiomyoma (UL) are the most common benign neoplasm present in women of reproductive age, with approximately 40% of these tumors showing structural cytogenetic abnormalities. Implementation of cytogenetic analysis has been fundamental in gene discovery efforts in these tumors. Here, we report the molecular cytogenetic analysis of four uncommon UL abnormalities: 1) 46,X,-X,t(6;16)(q12;q24),del(15)(q14q21),+mar, which includes disruption of CUX1, a known tumor suppressor/oncogene in the 7q22 region; 2) 46,XX,t(3;8)(q24;q26),del(3)(q21q26), showing disruption in a region ~120‐230Kb upstream MYC in the 8q24 region; 3) 46,XX, presenting a microdeletion of only two genes, BRAF and MRPS33, in the 7q34 region; 4) 45,XX,-7,t(4,7)(p15;q22),t(11;12)(q23q14), still under study. One of the most common recurrent abnormalities in UL involves deletion or rearrangement of region 7q22, however it is still unclear which mechanisms is underlined as determination of the possible contributing genes has been difficult by the highly variation of the smallest deleted region. In the attempt to identify the genes involved in the UL biology of these tumors we have analyzed four UL (ST89-234, ST93-055, ST97-133, ST09-042) with translocations of the long arm of chromosome 7. An array comparative genomic hybridization (aCGH) analyses showed a consistent genomic variation loss of a ~16,4 megabases region within 7q21.11-7q22.1. After combining these data with previously published data from our group (Hodge et al., 2009), resulted in a common deleted region of ~3.3 megabases, including 8 genes of interest, further narrowing the commonly deleted region of del(7q) UL. Through integration of different cytogenetic approaches, such as G-banding karyotying, positional cloning with fluorescence in situ hybridization and aCGH, we were able map diverse chromosomal abnormalities, and demonstrate the importance to implement high‐resolution cytogenetic methods. This study further highlights the heterogeneity of these tumors and provides important value for the identification of genes involved in UL development and/or progression.
Autores principais:Queirós, Ana Cristina Alves
Assunto:Biologia celular Leiomioma Citogenética Teses de mestrado
Ano:2009
País:Portugal
Tipo de documento:dissertação de mestrado
Tipo de acesso:acesso aberto
Instituição associada:Universidade de Lisboa
Idioma:inglês
Origem:Repositório da Universidade de Lisboa

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