Case Reports in Genetics (Jan 2020)

Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin

  • Marie Zerjav,
  • Autumn DiAdamo,
  • Brittany Grommisch,
  • Amato Katherine,
  • Hongyan Chai,
  • Gang Peng,
  • Peining Li

DOI
https://doi.org/10.1155/2020/8897541
Journal volume & issue
Vol. 2020

Abstract

Read online

Salivary gland tumors (SGTs) of parotid origin are a group of diverse neoplasms which are difficult to classify due to their rarity and similar morphologic patterns. Chromosome analysis can detect clonal abnormalities, and array comparative genomic hybridization (aCGH) analysis can define copy number alterations (CNAs) from tumor specimens. Of the 19 cases of various types of SGTs submitted for cytogenomic analyses, an abnormal clone was detected in nine cases (47%), and CNAs were detected in 14 cases (74%). Recurrent rearrangements involving the PLAG1 gene at 8q12, recurrent CNAs including deletions of 6q, 9p (CDKN2A), and 17p (TP53), loss of Y chromosome, and gain of chromosome 7 were defined from these cases. Combined karyotyping and aCGH analyses could improve diagnostic yield. Future study for more precisive correlation of SGT classification with cytogenomic abnormalities will facilitate better diagnosis and treatment.