Chromosome instability in elastofibroma.
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Chromosome Aberrations↗
Biomedical subjects
S Marras
Publications and source records attributed to S Marras.
Chromosomal changes in dysplastic nevi.
The dysplastic nevus is considered to be a precursor lesion of melanoma, representing one of the first steps in the progressive transformation from normal melanocyte to melanoma. Various risk degrees of developing cutaneous melanoma in patients with dysplastic nevi have been advanced, based on the presence of dysplastic nevi or melanoma or both in members of the patient's family. We report on the cytogenetic study of three nevi in a young patient with a family history of melanoma. Each nevus showed a simple clonal chromosome change. The t(6;15)(q13;q21) translocation found in one of them seems of particular significance in view of the fact that a similar one, with breakpoint at 6q13 was reported both in an acquired nevus from a patient with a family history of melanoma and in a case of cutaneous metastatic melanoma. These observations seem to support the hypothesis of the existence of a biological continuum between normal melanocyte and melanoma. Furthermore, the finding of chromosome changes similar to those associated with melanoma reinforces the need for a careful follow-up of patients with dysplastic nevi.
Adult↗
A new case of nodular goiter with t(5;19)(q13;q13)
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Chromosomes, Human, Pair 19↗
Molecular cytogenetic characterization of del(7q) in two uterine leiomyoma-derived cell lines.
Uterine leiomyoma cytogenetically exhibits at least six chromosomally abnormal subgroups. The largest subgroup is characterized by deletions of the long arm of chromosome 7. Few molecular and fluorescence in situ hybridization data are available that have aimed at a better definition of the lesion. Here, we report the results of a partial molecular cytogenetic characterization of two del(7q) chromosomes that were derived from cell lines established from two uterine leiomyomas with del(7)(q22q32). By using a large series of ordered 7q markers, we were able to identify the most proximal and the most distal conserved markers, which delineate the size of the deletion and which allow for a more targeted approach to the nature and function of genes that are possibly relevant for the pathogenesis of the disorder.
Chromosome Banding↗
Cellular fibrous histiocytoma of the skin: evidence of a clonal process with different karyotype from dermatofibrosarcoma.
Recently, a distinct variant of cutaneous fibrous histiocytoma (FH) has been histologically characterized as a "cellular" subtype. This variant is often mistaken for sarcoma, including dermatofibrosarcoma protuberans. We report a case of cellular FH of the skin in which the cytogenetic analysis demonstrated a novel chromosome pattern, possibly allowing distinction from its histologic simulants.
Adult↗
Chromosome changes in nonneoplastic tissue. Numerical and structural abnormalities in nasal polyps with atypical stromal cells.
Cytogenetic investigation on short-term cultures of 13 nasal polyps disclosed the presence of chromosome aberrations in three cases: one (a recurrence) showed numerical changes; the other two had structural abnormalities, an inv(12)(q15q22) in one case, a der(6)t(6;12)(q22;q15) in the other. The three cases were characterized histologically by the presence of frequent atypical stromal cells, and were positive for vimentin and smooth muscle actin. Of the remaining 10 cases, three were not analyzable, and seven had normal karyotypes, although random structural changes were seen in two of them.
Adult↗
Four cytogenetic subgroups can be identified in endometrial polyps.
We have cytogenetically investigated a total of 33 simple benign endometrial polyps, 7 of which have been reported previously. Clonal chromosome rearrangements are found in 19 of 33 lesions (57%). Three major cytogenetically abnormal subgroups can be distinguished: (a) those with rearrangements in the 6p21-p22 region; (b) those with rearrangements of the 12q13-15 region; (c) those with rearrangements of the 7q22 region. A normal karyotype is found in a fourth subgroup. Recombinations of the 6p21-22 region with 2q35 and 10q22, as well as rearrangements of 7q22, have not been described before. It can be concluded that endometrial polyps, like several other types of benign mesenchymal tumors, present several cytogenetically different subgroups despite a seemingly identical clinical and morphological appearance. It is mandatory, therefore, to look for a common denominator of these tumors at the molecular level.
Chromosome Aberrations↗
Endometrial polyps with predominant stromal component are characterized by a t(6;14)(p21;q24) translocation.
Cytogenetic investigation of endometrial polyps revealed the presence of a t(6;14)(p21;q24) as the sole abnormality in three cases. All tumors showed a histopathological pattern of predominant stromal hyperplasia with scarce representation of glandular elements, suggesting that a cytogenetic subgroup characterized by the t(6;14) translocation can be associated with endometrial polyps with a preponderant component of mesenchymal origin.
Adult↗
Numerical chromosome changes in a nasal polyp.
The etiology of nasal polyposis is not fully understood. We found numerical chromosome changes in one out of five cytogenetically investigated nasal polyps. The histological picture of this case was characterized by the presence of histiocyte-like cells, which were absent in the remaining cytogenetically normal polyps.
Adult↗
Endometrial polyp: another benign tumor characterized by 12q13-q15 changes.
Clustering of aberrations to specific chromosome regions of benign tumors may indicate the location of genes related to the proliferative process. Although few endometrial polyps have been cytogenetically investigated, 6p21 band appears to be involved consistently in the chromosome changes. We report two cases of this type of benign tumor with chromosome rearrangements in 12q14-15, allowing identification of a second cytogenetic subgroup in endometrial polyps.
Chromosome Aberrations↗
Chromosome changes in renal cell carcinoma.
Cytogenetic studies have provided a great deal of useful information about the biology and diagnosis of renal cell tumors. Particularly papillary and non-papillary tumors seem to be characterized by different cytogenetic patterns. We report the cytogenetic and histologic analysis of 16 renal tumors, 5 of which showed clonal chromosome changes. Most had chromosome abnormalities which have so far been described as specific of particular histopathologic subgroups.
Carcinoma, Renal Cell↗
[Relation between HLA and schizophrenia in German couples].
The authors, in studying some patients for schizophrenia, typed for HLA system themselves and their sibs. In 11/13 cases the sibs who differ for illness differ also for HLA; that fits with the hypothesis that HLA and schizophrenia genes lie on the same chromosome. But the case is more complex because one of 13 couples, two identical twins, differ for illness but not for HLA antigens.
Female↗
[Frequency of HLA alleles in a sample population from Campania].
The authors present their findings on the HLA A and B antigens frequent in Campania by means of a 127 random people sample. Only the HLA 1-8 aplotype shows a clear crossing-over disequilibrium.
Alleles↗
[Family data on Alport's syndrome correlated with the HLA system].
The authors, in order to complete the study of several patients with Alport's disease, typed for HLA two relative families. The data support the hypothesis of an autosomical transmission of the disease, and the association with the HLA system.
Chromosome Aberrations↗
Diagnosis of chromophobe renal cell carcinoma by chromosomal analysis.
Chromophobe renal cell carcinoma may pose a differential diagnostic problem by routine histologic examination because it may be misdiagnosed as another type of renal cancer with a totally different clinical behavior. A low DNA content as well as hypodiploidy seem to be associated with this renal tumor subtype. We report a case in which the cytogenetic report was of great value for a correct histologic diagnosis.
Carcinoma, Renal Cell↗
Translocation (8;12)(q13;q15) in a pediatric tumour.
A reciprocal translocation, t(8;12)(q13;q15), was found to be the sole karyotypic change in a deep-seated lipogenic tumour in a 3-year-old child. Judging from recent data on the cytogenetic characterization of adipose tumours, this finding seems to support the histopathologic diagnosis of lipoma in spite of foci of atypical cells observed at the histologic examination.
Abdominal Neoplasms↗
[Health demands due to acute alcoholism in the hospital of Sorgono 1980-1987].
In Italy, in the late 1970's, alcohol-related neoplasms represented 12% of deaths from neoplasms among men and 4.5% among women. The consumption of alcohol is responsible for a large number of psychiatric disorders, motor accidents, suicides and murders. The purpose of this research work is to describe the alcoholism in the "unità sanitaria locale" 10 of Sardinia. We studied the health demand for alcohol-related diseases (acute and chronic alcoholism, traumas in alcoholic people, alcoholic hepatopathies). Our research work has been carried out in the first aid post of the hospital of Sorgono, the only one in the whole "unità sanitaria locale", for the years 1980 to 1987. The long term trend has been studied by an exponential model y = exp (bx) The force of increase b is a valid measure of trend. We also calculated the 95 percent confidence intervals for b. We calculated the age-specific demand rates from acute alcoholism (for the years 1980 to 1987) for the whole USL. We used the indirect method of standardization to analyse the geographical distribution of cases. We calculated the Standardized Morbidity Ratio as SMR = d/(Pi Mi) * 100 and its confidence interval (95 percent) as SMR + 196 * (square root of d/Pi Mi) where d = cases in town population; pi = population in age group i in town population; Mi = rate in age group i in standard population. The standard rates are the age-specific rates for the whole "unità sanitaria locale". The health demand is much higher among males than among females (9 men against one woman). As far as the general population (+ 0.112 less than b less than + 0.288) and the males (+ 0.104 less than b less than + 0.283) are concerned we can recognize an increasing trend. Among women (-0.058 less than b less than 0.363) the increase is not significant. The age-specific distribution and the geographical distribution of health demand have been studied for the male population only. The age-distribution is bimodal having the first peak between 20 and 25 years and the second one between 50 and 65 years. This pattern is suggestive for the simultaneous presence of two different pathologies. In the town of Austis (209 less than SMR less than 589) the health demand is significantly higher than the health demand in the whole "unità sanitaria locale". The demand is significantly low in five towns (Desulo, Meana Sardo, Ovodda, Tornara, Gadoni).
Acute Disease↗