Microsatellite Instability in Near East Sebaceous Neoplasms: Toward Improved Prediction

Appl Immunohistochem Mol Morphol. 2022 Mar 1;30(3):204-208. doi: 10.1097/PAI.0000000000000987.

Abstract

Sebaceous neoplasms (SN) comprise a heterogeneous spectrum of tumors with different biological behaviors. In the Near-East Region (NER), microsatellite instability (MSI) in SN's development, and its correlation with the clinicopathologic features of tumors is not well elucidated. A cohort of 225 SN patients (40 benign SNs and 185 sebaceous carcinomas) from the NER was retrospectively reviewed. Clinical variables and available follow-up information were recorded. MSI proteins (MLH1, MSH2, MSH6, and PMS2) as well as P53, P16, EMA, CD8, and PDL-1 expressions were examined by immunohistochemistry. Detection of human papilloma virus was determined by polymerase chain reaction. Microscopic features such as mitotic count and tumor-infiltrating lymphocytes were documented. A minority of SNs from benign (n=2) or malignant (n=3) tumors in the NER exhibit MSI (2.2%). MSI is exclusively found in patients with extraocular lesions (back, n=5) and presented a poor outcome. Among these, PMS2 protein was mostly lost (average=80%, n=4). SN with MSI exhibited a significant increase in p53 expression, (average=62.10%, P=0.002). There was no significant correlation between MSI status and any of the following: PD-L1, CD8, p16, and human papilloma virus infection. Microscopically, SN with MSI show significantly higher mitotic count, cystic changes and increased tumor-infiltrating lymphocytes. MSI is rarely found in NER's SN. When detected, it is exclusively in extraocular SNs with minimal predicative microscopic features and worse outcome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoma*
  • Colorectal Neoplasms* / metabolism
  • Humans
  • Microsatellite Instability
  • Microsatellite Repeats
  • Mismatch Repair Endonuclease PMS2 / metabolism
  • MutL Protein Homolog 1 / metabolism
  • MutS Homolog 2 Protein / genetics
  • Retrospective Studies
  • Tumor Suppressor Protein p53 / metabolism

Substances

  • Tumor Suppressor Protein p53
  • Mismatch Repair Endonuclease PMS2
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein