6q- and loss of the Y chromosome—Two common deviations in malignant human salivary gland tumors

doi:10.1016/0165-4608(86)90021-X

Cancer Genetics and Cytogenetics

Volume 22, Issue 4, August 1986, Pages 283-293

https://doi.org/10.1016/0165-4608(86)90021-X Get rights and content

Abstract

Nine cases of malignant human salivary gland tumors cultured in vitro were subjected to detailed cytogenetic analysis with G-banding. Together with observations from three earlier published cases, the results of 12 cases were surveyed: five adenoid cystic carcinomas, three acinic cell tumors, three adenocarcinomas, and one mucoepidermoid carcinoma. All tumors had stemlines in the diploid—near—diploid mode. The most consistent changes among the adenoid cystic carcinomas were stem lines and/or variant cells with anomalies affecting the terminal part of 6q (i.e., 6q16-25). Deviations affecting the Y chromosome (losses) and, to a lesser extent, #6 (structural changes) and #8 (gains) characterized the early karyotypic evolution in acinic cell tumors. Two of the three analyzed adenocarcinomas showed stemlines or variant cells with loss of gonosomes. The karyotypic features of the different tumor types, including primary changes, evolutionary characteristics, and progressional pathways, are discussed. The cytogenetic relationships between benign and malignant salivary gland tumors also will be considered.

References (12)

J Mark et al.
The mixed salivary gland tumor—A normally benign human neoplasm frequently showing specific chromosomal abnormalities
Cancer Genet Cytogenet
(1980)
J Mark
Chromosomal abnormalities and their specificity in human neoplasms—An assessment of recent observations by banding techniques
Adv Cancer Res
(1977)
J Mark et al.
Cytogenetics of the human mixed salivary gland tumour
Hereditas
(1983)
G Stenman et al.
Relationship between chromosomal patterns and proto-oncogenes in human benign mixed salivary gland tumors
Tumour Biol
(1984)
J Mark et al.
Polyclonal chromosomal evolution in a cultured human acinic cell tumour
Anticancer Res
(1981)
G Stenman et al.
Adenoid cystic carcinoma: A third type of human salivary gland neoplasm characterized cytogenetically by reciprocal translocations
Anticancer Res
(1982)

There are more references available in the full text version of this article.

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^☆: Supported by grants from the Swedish Cancer Society and from the Swedish Medical Research Council, project no. 7327.

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6q- and loss of the Y chromosome—Two common deviations in malignant human salivary gland tumors☆

Abstract

Cancer Genet Cytogenet

Adv Cancer Res

Cytogenetics of the human mixed salivary gland tumour

Hereditas

Relationship between chromosomal patterns and proto-oncogenes in human benign mixed salivary gland tumors

Tumour Biol

Polyclonal chromosomal evolution in a cultured human acinic cell tumour

Anticancer Res

Adenoid cystic carcinoma: A third type of human salivary gland neoplasm characterized cytogenetically by reciprocal translocations

Anticancer Res