Genomic alterations detected by comparative genomic hybridization in ovarian endometriomas

Endometriosis is a complex and multifactorial disease. Chromosomal imbalance screening in endometriotic tissue can be used to detect hot-spot regions in the search for a possible genetic marker for endometriosis. The objective of the present study was to detect chromosomal imbalances by comparative genomic hybridization (CGH) in ectopic tissue samples from ovarian endometriomas and eutopic tissue from the same patients. We evaluated 10 ovarian endometriotic tissues and 10 eutopic endometrial tissues by metaphase CGH. CGH was prepared with normal and test DNA enzymatically digested, ligated to adaptors and amplified by PCR. A second PCR was performed for DNA labeling. Equal amounts of both normal and test-labeled DNA were hybridized in human normal metaphases. The Isis FISH Imaging System V 5.0 software was used for chromosome analysis. In both eutopic and ectopic groups, 4/10 samples presented chromosomal alterations, mainly chromosomal gains. CGH identified 11q12.3-q13.1, 17p11.1-p12, 17q25.3-qter, and 19p as critical regions. Genomic imbalances in 11q, 17p, 17q, and 19p were detected in normal eutopic and/or ectopic endometrium from women with ovarian endometriosis. These regions contain genes such as POLR2G, MXRA7 and UBA52 involved in biological processes that may lead to the establishment and maintenance of endometriotic implants. This genomic imbalance may affect genes in which dysregulation impacts both eutopic and ectopic endometrium.

Molecular cytogenetics as a tools for predicting cancer prognosis with special reference to neuroblastoma tumors

Consistent cytogenetic abnormalities have been identified in a variety of human cancer cells and some of them are related to patiente prognosis. Fluorescence "in situ" hybridization (FISH) is a new methodology which can be used to detect cytogenetic anomalies within interphase cells. We present several aspects of FISH methodology and its application in several examples, including trisomy 8 detection with higt specificity and sensitivy in patients with myeloid leukemias; trisomy 12 detection with highter efficiency than conventional cytogenetics in patients with chronic lymphocytic leukemia; assessment of engraftment success; chimerism, and relapse in opposite sex bone marrow transplantation; and correlation of trisomy 7 with survival time in patients with prostate tumors. We discuss also some aspects of neuroblastoma tumors, one of the most frequent malignant solid tumor in childhood. At diagnosis the patient's age and tumor stage are the major prognostic factors. Favorable prognosis is associated with triploid karyotype, lack of 1 p abnormalities and absence of N-myc amplification, whereas unfavorable prognosis is associated with pseudodiploid or tetraploid karyotype, 1 p deletion and N-myc amplification. These abnormalities can be investigated quickly and effecctively in interphase cells using FISH.

Molecular cytogenetics as a tool for predicting cancer prognosis with special reference to neuroblastoma tumors

Consistent cytogenetic abnormalities have been identified in a variety of human cancer cells and some of them are related to patient prognosis. Fluorescence "in situ" hybridization (FISH) is a new methodology which can be used to detect cytogenetic anormalies within interphase cells. We present several aspects of FISH methodology and its application in several examples, including trisomy 8 detection with high specificity and sensitivity in patients with myeloid leukemias; trisomy 12 detection with higher efficiency than conventional cytogenetics in patients with chronic lymphocytic leukemia; assessment of engraftment success, chimerism, and relapse in opposite sex bone marrow transplantation; and correlation of trisomy 7 with survival time in patients with prostate tumors. We discuss also some aspects of neroblastoma tumors, one of the most frequent malignant solid tumor in childhood. At diagnosis the patient's age and tumor stage are the major prognostic factors. Favorable prognosis is associated with triploid karyotype, lack of 1p abnormalities and absence of N-myc amplication, whereas unfavorable prognosis is associated with pseudodiploid or tetraploid karyotype, 1p deletion and N-myc amplication. These abnormalities can be investigated quickly and effectively in interphase cells using FISH.