Andrea Peier

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.

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.

Cytogenetic findings in 21 malignant melanomas

Cytogenetic analysis was performed on 21 tumor samples of malignant melanoma to identify the presence of consistent chromosome abnormalities. Four cases had a normal karyotype, and 17 were cytogenetically abnormal. Numerical chromosome alterations were observed in 15 tumors: 12 were hyperdiploid and three were hypodiploid. The most frequent losses consisted of chromosomes 5, 9, 17 and Y. The structural abnormalities were usually complex, consisting mainly of nonreciprocal translocations and deletions affecting 1p, 1q, 3p, and 9p. This study adds further data to previously reported melanoma cases, confirming that chromosomes 1, 3, 6, and 9 are nonrandomly affected.

Chromosome abnormalities in breast fibroadenomas

Cytogenetic analysis of 25 breast fibroadenomas (FA) showed clonal chromosome alterations in three cases. Insertion (12;?) (q15;?) and deletion (2) (q14q31 or q32) were detected as a sole change in cases 1 and 3, respectively. Case 2 displayed the karyotype 45,XX,t(1;8;16)(q25;q23;q22-23), add (7)(p14), rea(15), -17. The present findings are discussed together with the reports on FA in the literature.

FISH in the evaluation of pleural and ascitic fluids

Pleural and ascitic fluids (PAF) are complications of both nonmalignant and malignant conditions, such as congestive heart failure and chronic infections, as well as neoplasias, such as mesothelioma, lymphoma, and adenocarcinomas of the lung, ovary, endometrium, breast, colon, stomach, and pancreas. Differentiation between malignant and nonmalignant PAF is not always easy to assess on the basis of clinical, cytologic, and other criteria. A review of the chromosomal anomalies in neoplasms which can cause PAF revealed aneusomies of chromosomes 1, 3, 7, 8, 10, and 11 in about 40% to 80% of these malignancies. We performed FISH using centromere-specific probes for chromosomes 1, 3, 7, 8, 10, and 11 and chromosomal analysis on PAF cells from 21 patients, including 3 with ovarian cancer, 2 with lymphoma, 5 with adenocarcinoma of unknown origin, 1 with breast cancer, and 10 with atypical lymphocytosis of unknown cause. The results indicate a) a high correspondence between FISH and the clinical diagnosis (9 of the 11 cases of malignant fluid showing FISH abnormalities); b) that FISH is more sensitive than cytogenetics in detecting abnormal clones (10 vs. 6); and c) that FISH is a valuable adjunct to cytology in the interpretation of atypical lymphocytosis (3 of the 10 cases were shown to be abnormal by FISH). Thus, the FISH technique can be a very useful adjunct to conventional cytogenetics in yielding crucial information on the origin of PAF.

Deletion 6q in three cases of mixed type liposarcoma in addition to t(12;16)(q13;p11)

We report the cytogenetic findings in three mixed liposarcoma following short-term cultures. During the course of cytogenetic investigation of various types of liposarcomas, we observed an interstitial deletion of the long arm of chromosome 6 together with the translocation (12;16)(q13;p11) in three tumors. Translocation (12;16) is associated with myxoid and mixed (myxoid/round cell) liposarcomas, although deletion of chromosome 6 has been observed in only a few of these tumors. Our findings suggest that del(6), as an additional change in myxoid liposarcoma, is probably related to tumor progression.

Trisomy 5 in long-term cultures from bone marrow of patients with solid tumors☆

Long-term cultures of bone marrow from 15 cases diagnosed previously with primary solid tumors were analyzed cytogenetically. Of these cases, 10 had normal karyotypes and five had chromosomal abnormalities. Trisomy 5 was found in four cases, three with trisomy 5 as the only change and one with trisomy 5 and trisomy 12. These results suggest that trisomy 5 may be a nonrandom change associated with an in vitro or in vivo phenomenon.

FISH studies of urinary cells of patients with bladder cancer

Generally, bladder cancers are characterized by complex and numerous chromosome changes that vary from tumor to tumor. Nevertheless, certain chromosome changes recur with a consistency, (eg, +7, +8, -9, and -Y). In applying fluorescence in situ hybridization (FISH) studies to urinary cells in bladder cancer we chose probes for these chromosomes as well as those for chromosomes 10 and 11. A probe for the X chromosome was used for female patients in place of the Y. In the present study, we show that FISH of urine samples can detect the presence of cancer cells in transitional cell carcinoma (TCC) of the bladder of any grade and stage, including carcinomas in situ (CIS). We analyzed 27 samples from 25 patients (three were from the same patient); 24 samples were recurrent or newly diagnosed TCC and 3 were CIS. Our results show that FISH of urine samples is a reliable test for the detection of bladder cancer cells, regardless of the grade and stage of the tumor, and that a correlation appeared to exist between invasiveness of the tumor and the number of abnormalities in such tumor.