High-resolution genomic profiling of adenomas and carcinomas of the salivary glands reveals amplification, rearrangement, and fusion of HMGA2.

Carcinoma ex pleomorphic adenoma (Ca-ex-PA) is an epithelial malignancy developing within a benign salivary gland pleomorphic adenoma (PA). Here we have used genome-wide, high-resolution array-CGH, and fluorescence in situ hybridization to identify genes amplified in double min chromosomes and homogeneously staining regions in PA and Ca-ex-PA and to identify additional genomic imbalances characteristic of these tumor types. Ten of the 16 tumors analyzed showed amplification/gain of a 30-kb minimal common region, consisting of the 5'-part of HMGA2 (encoding the three DNA-binding domains).

High-resolution array CGH analysis of salivary gland tumors reveals fusion and amplification of the FGFR1 and PLAG1 genes in ring chromosomes.

We have previously identified a subgroup of pleomorphic salivary gland adenomas with ring chromosomes of uncertain derivation. Here, we have used spectral karyotyping (SKY), fluorescence in situ hybridization (FISH) and high-resolution oligonucleotide array-CGH to determine the origin and content of these rings and to identify genes disrupted as a result of ring formation. Of 16 tumors with rings, 11 were derived from chromosome 8, 3 from chromosome 5 and 1 each from chromosomes 1, 6 and 9.

Cytogenetical observations in a mucoepidermoid carcinoma arising from heterotopic intranodal salivary gland tissue.

The cytogenetical observations in a mucoepidermoid carcinoma (MEG) arising from heterotopic intranodal salivary gland tissue are presented. The MEC was characterized by two reciprocal translocations, viz, t(1;7) (p36;q11) and t(11;19) (q14-21;p11). The present and the previous studies show that the last rearrangement or related deviations characterize about 40% of all MEG.

Cytogenetics of parametrial leiomyoma.

The cytogenetical findings from a parametrial leiomyoma are presented. The results, together with those of five previously presented cases, show obvious differences when compared to the chromosomal findings in uterine myomas. Ontogenic factors are proposed to be causative for the cytogenetical differences.

Impact of the in vitro technique used on the cytogenetic patterns in pleomorphic adenomas.

The cytogenetic observations in 97 new cases of pleomorphic adenomas are reported. They were all studied by in vitro technique using enzymatic pretreatment of the explanted material. The results, together with 26 previously reported cases studied by the same method (series II), were compared with a group of 130 adenomas (series I) investigated in cultures of only mechanically dispersed material.

Observations by chromosome banding, FISH and immunohistochemistry in an adenoid cystic carcinoma with del(17)(p13) as the sole deviation.

We report on an adenoid cystic-carcinoma (ACC) with a clonal deletion of 17p as the only karyotypic abnormality. Using different chromosome 17-derived probes we showed by FISH that the deletion encompassed the p53 tumour suppressor gene. Immunohistochemical analysis revealed overexpression of p53 protein in a subpopulation of cells, suggesting a mutation in the remaining p53 allele in these cells.

Cytogenetical observations in a cultured polymorphous low-grade adenocarcinoma originating from the minor salivary glands.

The cytogenetical findings in a cultured polymorphous low-grade adenocarcinoma (PLGA) of the minor salivary glands are reported. The deviations observed showed similarities to those found in the only hitherto studied case originating in the minor glands. Both these cases, however, showed a picture completely different from that in the two reported cases of parotid PLGA, constituting the malignant component in carcinomas ex pleomorphic adenoma.

Is pleomorphic adenoma of the salivary glands a tumor of congenital or very early origin?

The cytogenetical observations in a cultured parotid pleomorphic adenoma are presented. The patient had received treatment with X-rays for an infectious disorder in the same region about 50 years earlier. A polyclonal chromosomal pattern was disclosed with predominance of unique structural deviations.

Cytogenetic observations in 13 cystadenolymphomas (Warthin's tumors).

The cytogenetic findings in 13 cultured Warthin's tumors (papillary cystadenoma lymphomatosum) are reported. Only one case showed an abnormal stemline. This was pseudodiploid and characterized by three different reciprocal translocations and one deletion.

Cytogenetical observations and hormone receptor expression in five extra-uterine leiomyomas.

The chromosomes were studied by an in vitro technique in four parametrial and one gastric leiomyomas. The findings in parametrial myomas (the present four cases and one published earlier) differed from the observations in uterine cases by the absence of normal stemlines and the absence of 1p,6p and 7q changes. As has been shown earlier for intraocular melanomas, the location within an organ or organ system could be the explanation for the chromosomal differences.

Cytogenetical and fish analysis on a salivary sebaceous lymphadenoma.

Chromosomal studies of a cultured parotid sebaceous lymphadenoma showed two abnormal cell groups, one with trisomy 9 (15% of the metaphases) and one with inconsistent structural deviations (10%). FISH analysis showed that the trisomic clone was actually larger (36%) than that revealed by chromosomal studies. The sebaceous lymphadenoma represents the fourth type of benign salivary gland tumor to show clonal chromosomal deviations.

Cytogenetical observations in nine ocular malignant melanomas.

The cytogenetical findings in one conjunctival and eight uveal melanomas are reported. Six of the intraocular tumors displayed clonal abnormalities. In two of these cases there were both extensive numerical and structural aberrations.

Complex chromosomal changes in a primary squamous carcinoma of the parotid gland.

The chromosomal observations in a cultured primary epidermoid carcinoma of the parotid gland are reported. The tumour had a flat hyper-triploid mode with 7 recurrent wholly or partially identified marker types and 7-13 additional, mostly recurrent, markers, whose origin could not be clarified. There were also many recurring numerical deviations in most tumour cells.

Cytogenetical observations in two cases of polymorphous low-grade adenocarcinoma of the salivary glands.

The cytogenetical findings in two cases of cultured salivary polymorphous low-grade adenocarcinoma (PLGA) are reported. The first PLGA was a carcinoma ex pleomorphic adenoma of the parotid gland. This had a pseudodiploid stemline characterized by extensive and complicated structural rearrangements.

Human benign chondroblastoma with a pseudodiploid stemline characterized by a complex and balanced translocation.

The chromosomes of a human benign chondroblastoma of the jaw were studied by in vitro technique. Approximately one-third of the analyzed cells had a normal karyotype. The remaining two-thirds constituted an abnormal monoclonal population with a complex and balanced translocation.

Benign parotid oncocytoma with the chromosomal abnormality trisomy 7.

This report concerns the first cytogenetical study of a benign salivary gland oncocytoma. The cultured tumor was studied in five consecutive preparations. The first three were dominated by cells with a normal karyotype.

Karyotypic variability and evolutionary characteristics of a polymorphous low grade adenocarcinoma in the parotid gland.

The chromosomes of a polymorphous low-grade adenocarcinoma originating from a pleomorphic adenoma of the parotid gland were studied. Three successful preparations were performed. A minor fraction of cells showed normal karyotypes and some cells only inconsistent, usually numerical, deviations.

Cytogenetics of multiple uterine leiomyomas, parametrial leiomyoma and disseminated peritoneal leiomyomatosis.

Using banding techniques the chromosomes were studied in 15 leiomyomas. The material comprised nine uterine myomas from one patient, one parametrial leiomyoma from a second patient and five tumors from a third patient with disseminated peritoneal leiomyomatosis. The results were considered together with pooled data from the literature.

Chromosomal patterns in Warthin's tumor. A second type of human benign salivary gland neoplasm.

The cytogenetical observations in eight successfully cultured human adenolymphomas are reported. When the results were considered with those of two previously reported cases, three main stemline groups could be distinguished: (a) one with a normal karyotype and noted as a primary or secondary stemline in all hitherto studied tumors; (b) a second group with only numerical changes, either loss of the Y chromosome or trisomy or monosomy 5; and (c) a third group with only structural changes, as a rule with one or two reciprocal translocations. With regard to the last group, studies of many more cases are necessary to decide whether distinctive subgroups exist.

Chromosomal patterns in human benign uterine leiomyomas.

Chromosomal observations by banding technique in 18 short-term cultured human uterine leiomyomas are reported. Half of the tumors had a primary or secondary abnormal stemline. They were usually characterized only by structural changes, in particular reciprocal translocations or insertions.