Aurelia M. Meloni

Translocation (X;1) in papillary renal cell carcinoma a new cytogenetic subtype

We report a consistent t(X;1)(p11.2;q21) that was observed in four cases of papillary renal tumors. In one of the cases, two cells showed the cytogenetic abnormality as the only change, whereas the other cases showed additional chromosomal anomalies particularly involving chromosomes 7 and 17. One identical t(X;1) has been reported previously in a papillary renal cell carcinoma. To date, all of the patients carrying this translocation have been males.

Reviews of Chromosome Studies in Urological Tumors. III. Cytogenetics and Genes in Testicular Tumors

PURPOSE We reviewed available cytogenetic and molecular findings in testicular germ cell tumors, and their possible application to clinical, pathological and basic parameters. MATERIALS AND METHODS Findings in the literature on testicular germ cell tumors as well as those from our laboratory were summarized, including a listing of the cytogenetic findings on testicular germ cell tumors to date with some illustrations. RESULTS Testicular germ cell tumors are characterized in most cases by the presence of an i(12p) isochromosome. In tumors without such an abnormal chromosome studies using fluorescence in situ hybridization and molecular approaches have demonstrated either masking of the i(12p) or the presence of extra 12p sequences in the karyotype. Although testicular germ cell tumors are often associated with chromosome changes in addition to the i(12p), no other specifically recurrent structural chromosome changes have been found. Based on the cytogenetic and molecular findings in testicular germ cell tumors, a hypothetical scheme for the genetic events leading to these tumors is presented. CONCLUSIONS The genetic events leading to genesis of testicular germ cell tumors in men appear to be related to aneuploidization followed by the formation of an i(12p) isochromosome, the latter characterizing the preponderant number of testicular germ cell tumors. The exact role of the i(12p) isochromosome in testicular germ cell tumor pathogenesis remains to be determined, as is true of the genes involved in or affected by these tumors. Based on presently available information, a hypothetical pathogenetic and oncogenetic model for the development of testicular germ cell tumors is presented.

Trisomies 8 and 20 Characterize a Subgroup of Benign Fibrous Lesions Arising in Both Soft Tissue and Bone

Trisomy 8 and trisomy 20 are nonrandom aberrations in desmoid tumors. The presence of these trisomies in related benign fibrous lesions of bone has not been previously addressed. In this study, 22 specimens from 19 patients diagnosed with desmoid tumor, desmoplastic fibroma, periosteal desmoid tumor, osteofibrous dysplasia, or fibrous dysplasia were examined by cytogenetic analysis of short-term cultures and bi-color fluorescence in situ hybridization of cytological touch preparations or paraffin-embedded tissue with centromeric probes for chromosomes 8 and 20. Trisomy 8 and trisomy 20 were detected by molecular cytogenetic methodologies in 15 specimens, including 10 primary bone lesions. Traditional cytogenetic analysis revealed trisomy 8 in two cases of osteofibrous dysplasia. Our findings demonstrate that trisomy 8 and trisomy 20 are also nonrandom aberrations in histologically similar, but clinically distinct, benign fibrous lesions of bone.

A new approach in the diagnosis and follow-up of bladder cancer: FISH analysis of urine, bladder washings, and tumors

The aim of the present study was to ascertain whether fluorescence in situ hybridization (FISH) of urine could be a useful approach in bladder cancer. Herein, we present the cytogenetic and FISH findings in patients with and without bladder cancer. The samples examined with FISH consisted of urine, bladder washings, and tumor tissue, when available. The results obtained show that the FISH technique, particularly when used on urine, is a very useful tool in the diagnosis, early detection, and management of bladder cancer.

Deletion 7q22 in uterine leiomyoma: A cytogenetic review

The cytogenetic patterns of uterine leiomyomas have been extensively investigated, and cases characterized by specific clonal changes have been documented in detail. In these tumors one of the cytogenetic changes frequently observed has been a del(7), particularly del(7)(q22), usually as a sole anomaly. This is confirmed by our experience and by reports in the literature. The fact that del(7) is one of the most common abnormalities in leiomyoma raises the question of its role in tumor development. The main purpose of this review is to analyze the above aspect and to interpret its possible meaning. Our findings on cytogenetic abnormalities of chromosome 7 in leiomyoma, together with those reported in the literature, are reviewed and discussed. A listing of the genes located at 7q22 is also presented.

Unbalanced chromosomal translocation, der(17)t(13;17)(q14;p11) in a solid and cystic papillary epithelial neoplasm of the pancreas

We report on a solid and cystic papillary epithelial neoplasm of the pancreas containing the unbalanced chromosome translocation der(17)t(13;17)(q14;p11), resulting in loss of 13q14-->qter and 17p11-->pter. Although the clinical and pathologic characteristics of this case are largely typical of this uncommon pancreatic neoplasm, the presence of cellular pleomorphism, tumor giant cells, and a DNA tetraploid tumor population suggest that this tumor may have an increased metastatic potential. The unbalanced translocation between chromosomes 13 and 17 and the genes flanking the breakpoints may prove to be markers for solid and cystic papillary epithelial neoplasm of the pancreas and provide insight into its histogenesis.

Deletion (5q) in a desmoid tumor of a patient with Gardner's syndrome☆

Desmoid tumors are associated with as many as 20% of cases of familial adenomatous polyposis (FAP) and Gardners syndrome. In the present study, four specimens from different regions of a massive intraabdominal desmoid tumor from a 23-year-old white male with Gardners syndrome were analyzed cytogenetically. Two different clonal abnormalities were observed. Two of the four specimens analyzed showed a del(5)(q14q31), which involves the region q21-->22 where the familial adenomatous polyposis gene is localized. In the two other specimens, a balanced translocation involving chromosomes 3 and 4 and an inv(4) was detected. Our findings confirm previous reports about the importance of chromosome defects on 5q in development of desmoid tumors, particularly in patients with Gardners syndrome.

Cytogenetic findings‐in 19 malignant bone tumors

Background. The majority of karyotypes observed in osteosarcomas (OS) and chondrosarcomas (CS) are complex, Specific chromosomal abnormalities have not yet been characterized in either tumor except for a ring chromosome in parosteal OS. The purpose of this study was to determine recurrent chromosomal abnormalities and establish a possible correlation between the cytogenetic changes and the pathologic findings.

Involvement of chromosome 7 in Wilms tumor

Cytogenetic and molecular analysis of Wilms tumors have led to the identification of two regions on the short arm of chromosome 11 (11p13 and 11p15) involved in tumor development. Recent studies have provided evidence that an additional locus on 16q is also involved. Further molecular testing may reveal additional loci associated with the development or progression of this tumor. Reports of single chromosome abnormalities in tumors generally pinpoint regions of interest that may be involved in the etiology of the tumor. We present an additional case of Wilms tumor with an isochromosome 7q as the sole cytogenetic change, resulting in loss of 7p and gain of 7q material.

Chromosome 7 biclonality in uterine leiomyoma

Biclonal chromosome complements in uterine leiomyoma have been reported occasionally. These previous studies reported the presence of two unrelated clones containing mainly t(12;14) and del(7). We describe four cases of typical leiomyoma displaying two clones, both involving chromosome 7 but with a different deletion in each of the two clones. For two of the tumors, the biclonal origin is the only possible explanation; for the remaining two cases, the origin of the two deleted chromosomes 7 could also be explained by clonal evolution, since the more proximal deletion on chromosome 7 in one clone appears to be subsequent to the deletion of the other clone. Even in these cases, however, the biclonal origin cannot be excluded completely. Despite the mechanism of origin, deletion of chromosome 7 is the most common cytogenetic abnormality in leiomyoma, indicating that loss of genetic material from the long arm of this chromosome is critical for tumor development.