1/43. Cytogenetic study of a spindle-cell rhabdomyosarcoma of the parotid gland.The cytogenetic analysis of a spindle-cell rhabdomyosarcoma of the parotid gland in a 6-year-old boy is reported. The tumor cells showed an abnormal karyotype with a hypotriploid modal chromosome number and clonal structural rearrangements affecting chromosomes 1, 8, 12, 21, and 22. The tumor karyotype was: 59, XY, -1, -3, -4, -5, -6, 8, 8, del(8)(q22q24), -9, -10, del(12)(q13), -15, -16, -17, -18, der(21)t(12;21)(p11;p11), -22, der(22)t(1;22)(q12;p11).- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/43. Clonal karyotypic abnormalities in gynecomastia.gynecomastia is a benign condition that frequently occurs in the male breast gland; however, the cytogenetic data on this entity are very limited. To our knowledge, three cases have been reported in the literature, and the only one with an abnormal karyotype had a concomitant breast carcinoma. In this study we report clonal chromosomal alterations in a gynecomastia sample without any signs of adjacent malignant tissue. The nonrandom abnormalities observed were a deletion of 12p, monosomies of chromosomes 9, 17, 19, and 20, and the presence of a marker chromosome. Most of these alterations have been previously described in the literature in other breast lesions, including benign and malignant (male and female) tumors, indicating their recurrence and nonrandomness in abnormal processes of the mammary gland.- - - - - - - - - - ranking = 0.4keywords = gland (Clic here for more details about this article) |
3/43. Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-beckwith syndrome."Genetic mosaicism" describes the presence of two or more populations of cells within a single individual that differ in their genomic constitution. Although the occurrence of asymmetric overgrowth in Wiedemann-Beckwith syndrome (WBS) suggests that mosaicism has some role in the WBS phenotype, no direct evidence for this has been published. WBS is a congenital overgrowth syndrome with variable phenotype linked to the imprinted gene cluster on chromosome region 11p15. We have performed a molecular survey of multiple organs and tissues in a case of WBS with a high degree of mosaic paternal 11p15 uniparental disomy (UPD). The organs most severely affected were those with the highest percentage of cells with UPD. In particular there was a striking difference in the degree of mosaicism for 11p15 UPD between the extremely enlarged left adrenal and non-enlarged right adrenal gland. This result indicates that the proportion of paternal 11p15 UPD cells correlates with the tissue phenotype of WBS. Our results suggest that high proportions of abnormal cells result from a combination of stochastic events and cell selection. mosaicism may explain the variable phenotypes including hemihyperplasia and predisposition to childhood cancers in WBS patients.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
4/43. Glandular patterns in a thyroid carcinoma with insular and anaplastic features: a case with possible implications for the classification of thyroid carcinomas.We describe the case of a 33-year-old woman with a thyroid carcinoma showing poorly differentiated (insular), anaplastic, and glandular features, the latter with extensive clear cell changes. Grossly, the well-circumscribed tumor nodule measured 3.6 cm in maximum dimension and was confined to the thyroid. Microscopically, the majority of the tumor was composed of well-defined "insular" nests showing microfollicular formation, high mitotic activity, and areas of necrosis. Other regions, as well as the intervening stroma of the insular nests, were characterized by highly atypical and pleomorphic stromal cells, extensive necrosis, and malignant cartilaginous nodules. Approximately 30% of the tumor was composed of diffuse glandular formations, each of which were lined by elongated, simple columnar cells with basally situated, mildly pleomorphic nuclei, clear supranuclear, periodic acid-Schiff (and diastase sensitive) cytoplasm, empty lumens, and no myoepithelia or basement membranes. Immunohistochemically, the glandular elements displayed diffuse and strong positivity for thyroid transcription factor-1, bcl-2, and CAM 5.2, sparse positivity for thyroglobulin and Ki67, and diffuse but weak positivity for p53. calcitonin was negative throughout the tumor. Karyotypic analysis of a primary culture showed a complex hypertriploid karyotype including structural abnormalities of chromosomes X, 1, 4, 6, 9, 13, and 14 in the majority of cells examined. This composite of histologic findings, especially the glandular patterns, is unusual and their prognostic significance is unclear. The patient is alive with no evidence of tumor recurrence or metastasis at 5 months follow-up. overall, the morphologic and immunohistochemical properties of the glandular component suggests that they are less differentiated than well-differentiated carcinomas and are probably more differentiated than the insular component. This case supports the theory that the various primary carcinomas of the thyroid may represent points along a spectrum rather than distinct entities.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
5/43. An unusual case of multiple giant myelolipomas: clinical and pathogenetic implications.Myelolipomas are benign tumors composed of both mature adipose and myeloid tissues. They typically present as an incidental mass in one of the adrenal glands proper. However, they can occur in ectopic adrenal tissue or, rarely, without associated adrenal tissue in various locations and can grow to weights of several kilograms. These tumors have been linked to endocrinopathies, such as Cushing disease and congenital adrenal hyperplasia, which involve overproduction of adrenocorticotropic hormone. We report a case of three giant adrenal myelolipomas arising in a persistently virilized female with congenital adrenal hyperplasia, supporting a role for hormonal stimuli in myelolipoma formation.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
6/43. cytogenetic analysis of an adenoid cystic carcinoma of the Bartholin's gland. A rare, semimalignant tumor of the female genitourinary tract.cytogenetic analysis has been performed on short-term cultures from a 56-year-old woman suffering from an adenoid cystic carcinoma of Bartholin's gland. Beside a normal female karyotype, the tumor revealed an abnormal cell line with complex chromosome changes involving the chromosomes 1, 4, 6, 11, 22, and 14. The mainly structural and nonbalanced rearrangements led to the loss of the chromosome segments 1p31 qter, 4q22 q28, 6p12 qter, 11p11.2 pter, 14q24 qter, and 22q13 qter. Clonal numerical aberrations were not observed. To our knowledge, such a tumor has to-date not been cytogenetically investigated.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
7/43. machado-joseph disease in new england: clinical description and distinction from the olivopontocerebellar atrophies.Experience is described in 25 patients from southern new england with machado-joseph disease, examined serially at annual screening clinics. The disorder is dominantly inherited, with a wide range of phenotypic variation. Core clinical features described include ataxia, nystagmus, dysarthria, facial fasciculations, and lid retraction, producing a characteristic staring expression. In addition, young onset patients have spasticity, extrapyramidal rigidity, and dystonic manifestations. Late onset patients often have distal atrophy and sensory loss. Postural instability is often an early feature. We discuss the distinction of this entity from the olivopontocerebellar atrophies.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
8/43. Multiple unrelated chromosome abnormalities in a metastatic mucoepidermoid carcinoma of the parotid gland.We describe cytogenetic findings in a poorly differentiated, metastatic mucoepidermoid carcinoma of the parotid gland. The tumor was characterized by multiple, unrelated chromosome abnormalities. Except for two small aberrant clones showing t(1;7) and t(2;15), respectively, all other abnormal cells showed unique, mostly structural rearrangements peculiar to each cell. No less than 34 different abnormal karyotypes were observed. A similar karyotypic heterogeneity was also described recently in squamous cell carcinomas of the head and neck.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
9/43. Rearrangement of 9p13 as the primary chromosomal aberration in adenoid cystic carcinoma of the respiratory tract.Two adenoid cystic carcinomas, one of the nasal cavity, the other a bronchial tumor, were cytogenetically analyzed. The former had a t(6;9)(q21-22;p 13-21) as the sole karyotypic abnormality. The latter had two related abnormal clones, resulting in the mosaic karyotype 46,XY,t(9;17)(p13;p13)/46,Y,t(X;6)(p22;q23),t(9;17)(p13;p13). The karyotypic profiles of the two cases, the only respiratory tract adenoid cystic carcinomas that have been cytogenetically characterized, differ little from those of previously reported adenoid cystic carcinomas of the major salivary glands, underscoring the fundamental biologic similarity among these tumors even when they develop from different structures and in different anatomical sites and organs. Because in the second case the t(9;17) obviously must have preceded the t(X;6), we conclude that both tumors had rearrangement of 9p13 as the primary cytogenetic change. The data thus add to the evidence that 6q changes are frequent, albeit at least sometimes secondary, aberrations in malignant salivary gland tumors. A subset of adenoid cystic carcinomas instead have rearrangement of 9p as the primary, and presumably pathogenetically essential, abnormality.- - - - - - - - - - ranking = 0.4keywords = gland (Clic here for more details about this article) |
10/43. Amylase-producing plasmacytoma cell lines, AD3 and FR4, with der(14)t(8;14) and dic(8)t(1;8) established from ascites.We established two human plasma cell lines, FR4 and AD3, from ascitic fluid in a patient with IgA k plasmacytoma (PC). Aberrant amylase production was found in this patient. Both AD3 and FR4 were free of Epstein-Barr virus, and both produced Ig A k in vitro. They produced amylase of the salivary type in vitro. This was confirmed by the demonstration of amylase mRNA comigrating with salivary gland mRNA. These cell lines commonly had unusual chromosomal abnormalities der(14)t(8;14) and dic(8)t(1;8). AD3 had additional chromosomal abnormalities compared with FR4. This suggests that AD3 is a subline of FR4. The oncogene c-myc is rearranged in most case of Burkitt's lymphoma with t(8;14). However, neither rearrangement nor amplification of the c-myc allele was detected in our PC lines. These lines expressed c-myc of 2.4 kb. There were no structural changes in the amylase genes of AD3 and FR4 detectable with Southern blotting analysis. As these lines were authentic PC lines, they would be useful for the future study of the relationship between the mechanism of oncogenesis and the rare tumor aberration, amylase production.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
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