Marion Kiechle-Schwarz

Nonrandom cytogenetic changes in leiomyomas of the female genitourinary tract:A report of 35 cases

Cytogenetic analysis of short-term cultures from 35 leiomyomas of the female genitourinary tract showed abnormal karyotypes in 14 cases. In 11 of 14 aberrant tumors, normal cells were also observed. Structural changes were most frequent, resulting in modal chromosome numbers in the diploid range. Our data confirm preferential breakpoint clusters at 7q, 12q14-15, and 14q23-24, mainly resulting from consistent, specific chromosome rearrangements such as t(12;14)(q14-15;q23-24) and del(7)(q21) or del(7)(q22q32). Together with previously published cases, we describe trisomy 12, ring chromosomes, and monosomy 22 as new additional recurrent findings in myomas. Statistical analyses of possible coherencies between tumor karyotype (abnormal versus normal) and clinicopathologic data, as well as age of the patients, menopausal status, and tumor size showed no correlations.

Cellular DNA content and survival in advanced ovarian carcinoma

Background. The prognosis of patients with advanced ovarian cancer is generally poor. To date, no satisfactory methods for predicting individual prognosis have been reported, especially in patients with little or no residual tumor after debulking.

Detection of monosomy in interphase nuclei and identification of marker chromosomes using biotinylated alpha-satellite DNA probes

Nonradioactive in situ hybridization with chromosome-specific highly repetitive DNA probes is a fast and easy method for the detection of the number of chromosome copies in nonmitotic cells. In this study, we report the use of four biotinylated probes of the human alpha-satellite family recognizing the (peri)centromeric regions of chromosomes 3, 10, 16, and 17. The reliability of the probes was tested by hybridizations to metaphase chromosomes and interphase nuclei of normal blood lymphocytes, which showed a two signal score in 85%-94% and 82%-86% of the cells, respectively. In situ hybridization experiments with nuclei and metaphase spreads derived from the LXFS-650 cell line indicated monosomy for chromosomes 10 and 16 and the presence of two derivative chromosomes 17. These results were in accordance with the cytogenetic data obtained with GTG-banding and confirmed the monoclonality of the cell line. Furthermore, with this method the origin of an unclassified marker chromosome could be identified as a derivative of chromosome 3. Our results show that fluorescence in situ hybridization can be a useful tool in cancer cytogenetics for the detection of numerical aberrations in interphase nuclei and for the classification of marker chromosomes in addition to conventional cytogenetic techniques.

Rearrangement of band 10q22 in leiomyoma and leimyosarcoma of the uterus

Cytogenetic analysis of a uterine leiomyoma from a 56-year-old woman revealed an interstitial deletion of chromosome 10, del(10)(q22q24), as the only chromosomal abnormality. Band 10q22 was also rearranged in a previously reported leiomyosarcoma of the uterus showing a t(10;17)(q22.1;p13) as the only change. These findings provide an additional example in soft tissue tumors for involvement of the same chromosomal regions in benign and malignant proliferation of cells from the same lineage.

p53 Mutation and MDM2 amplification are rare even in human papillomavirus‐negative cervical carcinomas

Background. Mutation of the p53 tumor suppressor gene is the most commonly found genetic alteration in human cancer. The E6 gene product of human papillomavirus (HPV) 16 and 18 can inactivate the p53 protein by promoting its degradation. Because most HPV‐positive cervical carcinoma cell lines contain wild‐type p53 whereas HPV‐negative cell lines have point mutations in the p53 gene, a major role in the development of HPV‐negative cervical cancer has been attributed to p53. Recent studies, however, have observed no consistent presence of p53 mutation in HPV‐negative primary cervical carcinomas. The MDM2 oncogene, which forms an autoregulatory loop with the wild‐type p53 protein, has been found amplified in a high percentage of human sarcomas, thus abolishing the antiproliferative function of p53.

Nonrandom cytogenetic changes in leiomyomas of the female genitourinary tract.

Abstract Cytogenetic analysis of short-term cultures from 35 leiomyomas of the female genitourinary tract showed abnormal karyotypes in 14 cases. In 11 of 14 aberrant tumors, normal cells were also observed. Structural changes were most frequent, resulting in modal chromosome numbers in the diploid range. Our data confirm preferential breakpoint clusters at 7q, 12q14–15, and 14q23–24, mainly resulting from consistent, specific chromosome rearrangements such as t(12;14)(q14–15;q23–24) and del(7)(q21) or del(7)(q22q32). Together with previously published cases, we describe trisomy 12, ring chromosomes, and monosomy 22 as new additional recurrent findings in myomas. Statistical analyses of possible coherencies between tumor karyotype (abnormal versus normal) and clinicopathologic data, as well as age of the patients, menopausal status, and tumor size showed no correlations.

Loss of constitutional heterozygosity on chromosome 11p in human ovarian cancer positive correlation with grade of differentiation

Background. There is increasing evidence suggesting that genes located on the short arm of chromosome 11 play an important role in the development of human ovarian cancer. Recent cytogenetic and molecular studies have demonstrated the loss of genetic material in this region. Loss of normal growth regulatory genes may allow for the expression of tumorigenicity or lead to tumor progression.

Cytogenetic and in situ DNA-hybridization studies in intracranial tumors of a patient with central neurofibromatosis

SummaryWe have studied a meningioma and an acoustic neurinoma of a patient with central neurofibromatosis. In the meningioma cells, one chromosome 22 was replaced by an almost metacentric, bisatellited marker chromosome that appeared monocentric after CBG-staining. In situ hybridization with a chromosome 22 centromere specific DNA probe (p22hom48.4) revealed specific signals in the pericentromeric region of the marker chromosome, indicating the presence of at least the short arm and the centromere of chromosome 22. The pericentromeric localization of the hybridization signals suggests the marker consists of an isoformation of the short arm of chromosome 22, resulting in a monosomy for the long arm of chromosome 22. In contrast to these finding in meningioma cells, no chromosomal abnormality could be detected in acoustic neurinoma cells. Our finding provide further evidence that loss of genetic material on the long arm of chromosome 22 is associated with the development of central neurofibromatosis.

Cytogenetic analysis of an adenoid cystic carcinoma of the Bartholin's gland: A rare, semimalignant tumor of the female genitourinary tract

Cytogenetic analysis has been performed on short-term cultures from a 56-year-old woman suffering from an adenoid cystic carcinoma of Bartholins gland. Beside a normal female karyotype, the tumor revealed an abnormal cell line with complex chromosome changes involving the chromosomes 1, 4, 6, 11, 22, and 14. The mainly structural and nonbalanced rearrangements led to the loss of the chromosome segments 1p31----qter, 4q22----q28, 6p12----qter, 11p11.2----pter, 14q24----qter, and 22q13----qter. Clonal numerical aberrations were not observed. To our knowledge, such a tumor has to-date not been cytogenetically investigated.

Cytogenetic analysis of an adenoid cystic carcinoma of the Bartholin's gland

Abstract Cytogenetic analysis has been performed on short-term cultures from a 56-year-old woman suffering from an adenoid cystic carcinoma of Bartholins gland. Beside a normal female karyotype, the tumor revealed an abnormal cell line with complex chromosome changes involving the chromosomes 1, 4, 6, 11, 22, and 14. The mainly structural and nonbalanced rearrangements led to the loss of the chromosome segments 1p31→qter, 4q22→q28, 6p12→qter, 11p11.2→pter, 14q24→qter, and 22q13→qter. Clonal numerical aberrations were not observed. To our knowledge, such a tumor has to-date not been cytogenetically investigated.