1/98. Angiosarcoma of the testis.A primary angiosarcoma of the testis in a 74-year-old patient was a highly anaplastic epthelioid angiosarcoma, which was positive for endothelial markers immunohistochemically. The tumour was unrelated to testicular germ cell neoplasm; the patient had received no previous radiation or chemotherapy.- - - - - - - - - - ranking = 1keywords = germ cell, germ, neoplasm (Clic here for more details about this article) |
2/98. Cytogenetic and CGH studies of four neuroendocrine tumors and tumor-derived cell lines of a patient with multiple endocrine neoplasia type 1.A malignant insulinoma (LOHG-I), a carcinoid of the lung (LOHG-L), a parathyroid adenoma (LOHG-NSA), and a fibroma (LOHG-F) were obtained from a patient with multiple endocrine neoplasia type 1 (MEN1). Long-term cultures were established. Essential neurobiological properties of the cell lines were proven immunocytochemically and by electron microscopy. Molecular analysis of the germline dna showed a 4 bp deletion in exon 3 of the MEN1 gene. Cytogenetic and CGH analyses of the tumors/tumor cell lines revealed diploidy and balanced and unbalanced structural aberrations different for each tumor. Chromosomes 6q21, 11q and 17q were most frequently involved in clonal structural aberrations.- - - - - - - - - - ranking = 0.13496303162927keywords = germ (Clic here for more details about this article) |
3/98. Oncocytoid renal cell carcinoma after neuroblastoma: a report of four cases of a distinct clinicopathologic entity.Four children who developed oncocytoid renal cell carcinoma (RCC) after neuroblastoma are reported. One patient had multiple, bilateral RCCs. The mean age at time of diagnosis of RCC was 8.8 years (range, 5-13 years). The mean interval between neuroblastoma and RCC was 7.15 years (range, 3.1-11.5 years). The histologic findings of these RCCs did not fit within the spectrum of known renal epithelial neoplasms. Most of the neoplastic cells in all cases had eosinophilic, oncocytoid cytoplasm and were arranged in solid and papillary growth patterns. A subset of cells with reticular cytoplasm was also present. Immunohistochemical studies demonstrated keratins 8 and 18 in all neoplasms and keratin 20 in two cases. dna ploidy analysis revealed that two of three neoplasms assessed were aneuploid. Cytogenetic studies revealed 45, XX, add or dup (7)(q32q36) in one neoplasm, and 83-89, XXXX, -1 ,-3, del (3)(q11.1q2?1), der(4)t(4;?22) (q32;q11.2), -14, -22 in a second tumor. Microsatellite polymerase chain reaction analysis detected no abnormalities in one neoplasm and allelic imbalance of chromosomes 2p31-32.2, 8p22, 9p22-24, 13q22, 20q13, and 22q11 in a second tumor. In case 4, two different RCCs excised 6 months apart were analyzed. The initial neoplasm showed allelic imbalance of chromosomes 2q31-32.2, 5q22, 5q31, 10p13-14, 13q22, 14q31, and 20q13. The subsequent neoplasm showed allelic imbalance of chromosomes 3p21.3, 14q31, and 20q13. The common presence of 14q31 and 20q13 abnormalities suggests that these two neoplasms were genetically related. In aggregate, these findings are distinctive, are not found in known types of RCC, and support the morphologic impression that oncocytoid RCC after neuroblastoma is a distinct clinicopathologic entity.- - - - - - - - - - ranking = 0.1251706687763keywords = neoplasm (Clic here for more details about this article) |
4/98. syndrome of microcephaly, Dandy-Walker malformation, and wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.We report a male infant with multiple congenital anomalies and mosaic variegated aneuploidy; a rare cytogenetic abnormality characterized by mosaicism for several different aneuploidies involving many different chromosomes. He had prenatal-onset growth retardation, microcephaly, dysmorphic face, seizures, hypotonia, feeding difficulty, and developmental delay. In addition, he developed bilateral Wilms tumors. Neuroradiological examination revealed Dandy-Walker malformation and hypoplasia of the cerebral hemisphere and pons. cytogenetic analysis revealed various multiple numerical aneuploidies in blood lymphocytes, fibroblasts, and bone marrow cells, together with premature centromere division (PCD). Peripheral blood chromosome analysis from his parents also showed PCD, but no aneuploid cells. The clinical phenotype and multiple aneuploidies of the patient may be a consequence of the homozygous PCD trait inherited from his parents. Comparison with previously reported cases of multiple aneuploidy suggests that mosaic variegated aneuploidy with PCD may be a clinically recognizable syndrome with major phenotypes being mental retardation, microcephaly, structural brain anomalies (including Dandy-Walker malformation), and possible cancer predisposition.- - - - - - - - - - ranking = 0.0033869183896583keywords = cancer (Clic here for more details about this article) |
5/98. Sex chromosome aneuploidies in sperm of 47,XYY men.The sex chromosomal equipment in 26,675 sperm of 47,XYY males was analyzed. A total of 5.78% of the nuclei exhibited sex chromosome hyperhaploidy. Six studies have analyzed the sperm of 10 XYY patients and, although these studies indicated some degree of elimination of the extra y chromosome during spermatogenesis, a certain percentage of XYY germinal cells may also be able to achieve meiosis and produce sperm with gonosomal disomies. All these studies show an increased incidence of gonosomal aneuploidies in sperm, but there are significant discrepancies concerning the extent of these abnormalities. The global frequencies of sperm with an abnormal number of sex chromosomes ranged from 0.578 to 13.91%, depending on the patients. There are several explanations for these discrepancies: differences attributed to fluorescence in situ hybridization methodology, the use of dual or multicolor FISH, recruitment, interindividual variations, and intraindividual variations. This study reports an additional series obtained from another XYY individual and compares and discusses the data on gonosomal hyperhaploidies in sperm of 47 XYY males using in situ hybridization analyses.- - - - - - - - - - ranking = 0.13496303162927keywords = germ (Clic here for more details about this article) |
6/98. Cytogenetic study of eight new cases of radiation-induced solid tumors.radiation-induced tumors were selected according to the criteria defined by Cahan (1948) for sarcomas. Cell cultures and/or xenografts in nude mice were performed with biopsies obtained from second primary tumors. Karyotypes of eight tumors were established after R-banding. After comparison with literature data on 15 other cases, two distinct cytogenetic patterns could be distinguished. One was characterized by polyclonal karyotypes, of which a large proportion were simple and carriers of balanced translocations. Another one was characterized by monoclonal chromosome alterations observed in highly aneuploid and complex karyotypes, in which many deletions were observed. These two different patterns could be related to the modality of metaphase harvesting. Polyclonal karyotypes were preferentially observed after long-term cultures, and monoclonal karyotypes after short-term cultures or xenografts. The following scheme of radiation oncogenesis is proposed: a) induction of recessive gene mutations including that of tumor suppressor genes; b) accumulation of genomic alterations in the irradiated tissue with aging, including deletions or mutations of normal alleles from mutated tumor suppressor genes; and c) loss of tumor suppressor gene function and initiation of a multistage tumor development and progression. Polyclonal abnormalities are assumed to exist in noncancerous cells which acquired radiation-induced chromosome aberrations.- - - - - - - - - - ranking = 0.0033869183896583keywords = cancer (Clic here for more details about this article) |
7/98. Prognostic factors in Paget's disease of the vulva: a study of 21 cases.Twenty-one cases of vulvar Paget's disease were studied to assess possible prognostic indicators, including presence and depth of invasion, status of resection margins, tumor dna cell content, and immunoreactivity for p53 and estrogen receptor proteins. Immunostaining for cytokeratin 7 (CK7), cytokeratin 20 (CK20), and gross cystic disease fluid protein-15 (GCDFP) were also performed. patients were 45 to 82 years of age (mean, 66.9 years). Ten of 21 patients (47.6%) had invasive Paget's disease. Dermal invasion was < or = 1 mm in 7 of 10 cases and 2 mm, 3 mm, and 8 mm in the remaining three invasive tumors. Of the seven patients with minimally invasive Paget's disease (< or = 1 mm depth of invasion), five are alive with no evidence of disease, one died of an unrelated illness, and one is alive with biopsy-proven in situ Paget's disease, having refused operative treatment. Of the three patients with more than minimally invasive Paget's disease (> 1 mm), all had nodal metastases; one patient is alive with no evidence of disease, one died of undertermined causes, and one died of metastatic Paget's disease. The remaining 11 patients had Paget's disease confined to the epidermis and its adnexal structures. Seven of these patients were alive at last follow-up with no evidence of disease. Of the remaining four patients, one died of metastatic cervical cancer, one died of metastatic bladder cancer, one died of an unrelated illness, and one patient is alive with biopsy-proven in situ Paget's disease and awaiting operative treatment. Twenty of the 21 cases represented primary vulvar Paget's disease while one represented possible local spread from a cervical adenocarcinoma. The immunoprofiles were GCDFP /CK7 /CK20- in 14 cases, GCDFP /CK7 /CK20 in 4 cases, and GCDFP-/CK7 /CK20- in 2 cases. All tumors were estrogen receptor-negative. Immunostaining for p53 was positive in 16 tumors and negative in four tumors. Seven of 12 (58%) patients with positive margins experienced local recurrence of Paget's disease, while the disease recurred in 1 of 4 patients with negative margins. recurrence was observed in 3 of 5 patients with diploid tumors and in 4 of 10 patients with aneuploid tumors. Neither of these differences is statistically significant. This study supports the recognition of a category of minimally invasive vulvar Paget's disease that has a low risk of distant metastasis and death caused by disease. Status of surgical resection margins, tumor cell dna ploidy, estrogen receptor expression, and p53 immunoreactivity are not predictive of local recurrence.- - - - - - - - - - ranking = 0.0067738367793166keywords = cancer (Clic here for more details about this article) |
8/98. Chromosomal doubling: the significance of polyploidization in the development of human tumors: possibly relevant findings on a lymphoma.Recent molecular evidence points to defects in cell cycle checkpoints as one of the most important events in the transformation of normal to malignant cells. A byproduct of, if not a critical step brought about by, these defects is the occurrence of polyploidization; near-tetraploid and near-octoploid cells are a common feature of cancers, and the neoplastic stemline may itself attain a high (e.g., near-tetraploid) value. This short review cites cases in which polyploidization is frequent, even at an early stage of tumor development, and considers the probability that, once a high stemline has arisen, there is increased instability with the likelihood of further chromosome changes. A possible example of the latter is a lymphoma in which tetraploid and hypotetraploid metaphases were found, the latter, interestingly, showing an apparently preferential loss from tetraploidy of chromosome 10. It appears, therefore, that a stemline was emerging consequent to (a) chromosome doubling resulting in tetraploid cells, and (b) the appearance of a hypotetraploid line in which chromosome 10 was under-represented. Alternately, there might have been a repeated loss of chromosomes from tetraploid cells that preferentially included chromosomes 10.- - - - - - - - - - ranking = 0.0033869183896583keywords = cancer (Clic here for more details about this article) |
9/98. Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype.Sex chromosome aneuploidy was assessed in spermatozoa from a 47,XXY male and a 46,XY/47,XXY male using three colour fluorescence in-situ hybridization (FISH) and compared with two control groups. The first group included subjects of proven fertility and the second infertile males with normal constitutional karyotype. The frequencies of XX and YY disomic, XY hyperhaploid and diploid spermatozoa were significantly increased in the 47,XXY male compared to subjects from the two control groups (P < 0.0001). For the 46,XY/47,XXY sample, the same results were observed, except that the incidence of YY disomic spermatozoa did not differ significantly from the rate obtained in infertile patients. The frequency of sex chromosome aneuploidy did not differ significantly between the 47,XXY and the 46,XY/47,XXY males, except for XX disomic sperm nuclei which was higher in the 47,XXY patient. The frequency of chromosome 12 disomy was also increased in the two XXY individuals (0.42 and 0.49% respectively; P < 0.0001). The meiotic abnormalities observed in the two XXY patients arose through segregation errors in XY germ cells. The increased number of meiotic non-disjunctions observed in the germ cells of infertile males may be a common feature of the deficient oligo- or azoospermic testis. patients with Klinefelter's syndrome with oligozoospermia have an increased risk of both sex chromosome and autosome aneuploidy in their progeny.- - - - - - - - - - ranking = 1.9687073328059keywords = germ cell, germ (Clic here for more details about this article) |
10/98. Cytogenetic heterogeneity and clonal evolution in synchronous bilateral breast carcinomas and their lymph node metastases from a male patient without any detectable BRCA2 germline mutation.Two synchronous bilateral breast carcinomas and their matched lymph node metastases from a 70-year-old man were cytogenetically analyzed. All four tumors were near-diploid, and except for the primary tumor from the right breast, had a 45,X,-Y clone in common. The loss of the y chromosome was, however, common to all four tumors, whereas metaphase cells from peripheral blood lymphocytes showed a normal 46, XY chromosome complement. The primary tumor from the right breast was monoclonal, with loss of the y chromosome and gain of 1q, whereas its metastasis had two related clones: the 45,X,-Y clone, and the other a more complex version of the clone in the primary tumor, with inv(3), -14, and del(16)(q13) as additional changes. The primary tumor from the left breast was polyclonal with three unrelated clones: 45,X,-Y/45,XY,-18/47,XY, 20, two of which were present in its metastasis. dna flow cytometric studies showed diploidy for both primary tumors. No mutation in the BRCA2 gene was found on analysis of dna from peripheral blood lymphocytes. The present findings show that del(16)(q13) is a recurrent finding among male breast carcinomas and that some of the primary cytogenetic abnormalities, as well as the pattern of chromosomal changes during the progression of sporadic breast carcinoma in the male, are similar to those in the female. In addition, the loss of the y chromosome in the tumors but not in peripheral blood lymphocytes, suggests a possible role for this abnormality in the pathogenesis of male breast carcinoma.- - - - - - - - - - ranking = 0.53985212651708keywords = germ (Clic here for more details about this article) |
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