Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case.

A new case of a de novo trisomy 10cen-->10pter is described. The karyotype was exactly defined by high resolution banding and FISH analysis; the chromosome aberration was of maternal meiotic origin as demonstrated by RFLP analysis. Clinical data are reported and correlated with other trisomy 10p cases from the literature. A critical review of the literature was made to define the phenotype of trisomy 10p syndrome.

Primed in situ labeling (PRINS): a method for rapid identification and quantification of human chromosomes in both lymphocytes and sperm nuclei.

In this work, a specific primer for X alphoid satellite DNA was used to detect chromosome X through primed in situ labeling (PRINS). The method allows the rapid identification of chromosome X in metaphase and its quantification in interphase. PRINS is equally applicable to both lymphocytes and sperm nuclei.

[Analysis of a microdeletion in the AZF gene region in azoospermic patients: from research to molecular biology laboratory routine]. / Analisi di microdelezioni della regione genica AZF in pazienti azoospermici: da ricerca a routine di laboratorio di biologia molecolare.

Microdeletions in AZF (Azoospermia Factor) region of the Y Chromosome have been recently described in azoospermic or oligozoospermic men. A Y chromosome molecular analysis was performed in peripheral blood DNA obtained from 16 azoospermic patients. Microdeletions within the interval 6 of the long arm of chromosome Y were analysed using the PCR (Polimerase Chain Reaction) technique. The presence of the DAZ (SY255) sequence was tested in 6 patients, while the remaining 10 patients were analysed for 6 different loci mapped to AZFb and AZFc regions. Microdeletion was detected in one azoospermic patient in the YRRM2 sequence. This result supports the finding of microdeletions not involving the DAZ sequence and suggests that routine investigation of azoospermic patients for microdeletions spanning the interval 6 region of y chromosome is also required.

[Genetics of laryngeal cancer: an experimental study]. / Indagine genetica nel cancro della laringe: contributo sperimentale.

Squamous cell laryngeal carcinoma accounts for 1% of all cancer deaths and 95% of all laryngeal malignancies. It is most frequently found in smokers over 40 years of age. This neoplasm is presently the object of cytogenetic studies in an attempt to identify a specific chromosome pattern. In a study of 29 cases of malignant primary laryngeal tumor, Nawroz (1993) found a loss of alleles in different loci mapped in the short arm of chromosome 9 (9p) in more than two-thirds of the cases. In the same chromosome region, the loss of heterozygotes (LOH) was previously described in other neoplasms (leukemia, hematic tumors, melanomas). In an attempt to verify the predominant chromosome pattern and the loss of heterozygotes in chromosome 9, a cytogenetic, genetic-molecular study was performed on ten cases of laryngeal carcinoma. Among these subjects, two showed a hyperdiploid chromosome pattern (metaphase with more than 46 chromosomes per cell), five had a hypodiploid pattern (with less than 46 chromosomes per cell) while, for the remaining three cases, it was not possible to identify any metaphase. Numerous structural and numerical karyotype defects were found in chromosomes 1, 3, 4, 5, 9, 10, 13, 14, 16, 18, and Y. In 6 of the cases abnormality was found in chromosome 9 while in 10 it was apparently a homozygote. The study was performed with the use of fluorescent in situ hybridization (FISH) using a chromosome library specific for chromosome 9. A loss of the 9p segment could be found as a result of different types of alterations: deletion (case 1, 2, 5, 7); non uniform transfer between chromosome 2 and chromosome 9 (case 2); other transfers involving the 9p segment (case 1, 4, 5, 7, 10). In six cases, analysis was further detailed at the molecular level by means of DNA amplification methods (PCR) and electrophoresis on denatured 10% polyacrylammide gels. LOH was studied using a polymorphic system specific for the short arm of chromosome 9. Four of the cases examined showed LOH for the system used while one case (case 4) gave no information. Case 9 did not show any loss of alleles. The present study suggests that the loss of a DNA sequence on chromosome 9p is primary to the neoplastic progression in laryngeal cancer.

[Association of the cytogenetic pattern and latero-cervical metastasis of laryngeal cancer]. / Associazione tra pattern citogenetico e metastasi latero-cervicali nel cancro della laringe.

Although solid tumors, in particular carcinomas, play a much larger part in human morbidity and mortality than hematological neoplasias do, much less is known about the cytogenetic abnormalities that characterize them. Numerous classification schemes have been used in the subdivision of human tumors. Most often the tumors are classified according to the presumed cell of origin (epithelial, mesenchymal, neurogenic or germ cell tumors), their benignity or malignancy, differentiation features and histological growth pattern or anatomical site or organ of origin. In the following discussion, we analyse 12 cases of squamous cell carcinoma of the larynx. All teh sample were karyotyped using a direct chromosome analysis method. The method reported was highly successful and in several types of tumors showed the possibility of obtaining good banded metaphases. The purpose of this research was to attempt to define the chromosomal pattern of laryngeal carcinomas and, consequently, to correlated, it to histological grading and clinical evolution. In all the cases studied we found several chromosomal anomalies. In five of them clonal anomalies, such as the loss of chromosome 4; Robertsonian translocation t(13,14); rearrangement of chromosome 1 and chromosome 17 and the presence of similar markers, were observed. The characterization of the markers was made with an IN SITU hybridization technique using specific probes, followed also in order to define two particular markers involving chromosome 1 and t(13,14). We did not reveal a correlation between histological grading and karyotype, but we did find a correlation between tumor ploidy and latero-cervical metastases. The most important result seems to correlate the presence of latero-cervical metastases with a hypodiploid cell line (with less than 46 chromosomes) in the primary tumor. This could be an index of the ability of the tumor to invade the latero-cervical lymph nodes. If this correlation is confirmed, conservative neck dissection could be limited to N0 patients with a hypodiploid pattern. In conclusion, we feel that, if confirmed, the results of this research, may be widely applied in clinical medicine.

[Cytogenetic patterns in Warthin tumor]. / Caratterizzazione citogenetica del tumore di Warthin.

Our systematic studies of different types of benign and malignant salivary neoplasms in humans were initiated about two years ago. Analysis of karyotypes revealed that virtually all tumors are associated with chromosomal abnormalities. That those abnormalities may also take part in tumor initiation and progression is suggested by the association of specific chromosome rearrangement with particular cancers. We here with report cytogenetical observation in five Warthin's tumors giving particular attention to the possible occurrence of cells with (a) a normal karyotype or with (b) numerical changes, either loss of the Y chromosome or monosomy 4. The present series od adenolymphomas was karyotyped by a direct chromosomal analysis method. The method reported was highly successful, in several types of tumors showing the possibility of having good banded metaphases. All Warthin's tumors showed stemline (S) with a normal karyotype. These normal cells constituted the only S in two cases and the primary S in the other three cases. The normal cells observed in all adenolymphomas could be interpreted as outgrowing stroma cells. Most types of previously well-studied benign human tumor types, however (meningiomas, pleomorphic adenomas, lipomas), has a S group with a normal karyotype, regardless of the the tissue culture technique used. Thus, we believe that these normal cells usually represent neoplastic elements. Furthermore, we think that all benign tumors originate with a rather normal S, which, however, as the first indication of neoplastic transformation, shows chromosomal instability, such as the loss of chromosomes.(ABSTRACT TRUNCATED AT 250 WORDS)