Molecular Evidence Supporting the Neoplastic Nature of Some Epidermoid Cysts of the Testis

Author:

Younger Cheryl1,Ulbright Thomas M.1,Zhang Shaobo1,Billings Steven D.1,Cummings Oscar W.1,Foster Richard S.1,Eble John N.1,Cheng Liang1

Affiliation:

1. From the Departments of Pathology and Laboratory Medicine (Drs Younger, Ulbright, Zhang, Billings, Cummings, Eble, and Cheng) and Urology (Drs Foster and Cheng), Indiana University School of Medicine, Indianapolis. Dr Younger is now with Central Oregon Pathology Consultants, Bend, Ore

Abstract

Abstract Context.—Loss of heterozygosity (LOH) on chromosomes 9p and 12q is common in germ cell tumors of the testis. Loss of heterozygosity of 17p13 has also been demonstrated in germ cell tumors. The incidence of LOH in epidermoid cysts, a possible special form of teratoma, has not been previously determined. Objective.—To determine the frequency of LOH in epidermoid cysts. Design.—Eight testicular epidermoid cysts and surrounding parenchyma were microdissected from formalin-fixed, paraffin-embedded tissue, and the genomic DNA was extracted using proteinase K. Polymerase chain reaction analysis targeted regions on chromosome 9p21 (D9S177 and D9S161 loci), chromosome 12q22 (D12S1051 locus), and chromosome 17p13 (TP53 locus). Gel electrophoresis followed by autoradiography was used to detect LOH. Results.—All 8 of the epidermoid cysts were informative at a minimum of 1 of 4 loci. Three demonstrated LOH. In 2 tumors, LOH occurred on chromosome 9, and the third tumor demonstrated LOH on chromosome 12. Loss of heterozygosity on chromosome 17p13 was not present in any of the tumors. Conclusions.—Epidermoid cysts harbor allelic loss at some of the same loci identified in malignant testicular germ cell tumors. Our findings support that some examples of epidermoid cysts are neoplastic, although their low frequency of LOH also supports that they are genetically different from malignant germ cell tumors.

Publisher

Archives of Pathology and Laboratory Medicine

Subject

Medical Laboratory Technology,General Medicine,Pathology and Forensic Medicine

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1. Germ cell neoplasms of the testis: Update for 2022;Seminars in Diagnostic Pathology;2023-01

2. Germ Cell Tumors Not Derived from Germ Cell Neoplasia in Situ;Tumors and Tumor-Like Lesions of the Testis and Adjacent Tissues;2022-08

3. Unusual presentation of epidermoid cyst from testis in an aging male;The Aging Male;2019-05-14

4. Laser-assisted Microdissection in Translational Research;Applied Immunohistochemistry & Molecular Morphology;2013-01

5. Molecular Genetic Evidence Supporting the Origin of Somatic-type Malignancy and Teratoma From the Same Progenitor Cell;American Journal of Surgical Pathology;2012-12

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