Histotype-genotype correlation in 36 high-grade endometrial carcinomas

Am J Surg Pathol. 2013 Sep;37(9):1421-32. doi: 10.1097/PAS.0b013e31828c63ed.

Abstract

Endometrioid, serous, and clear cell carcinomas are the major types of endometrial carcinoma. Histologic distinction between these different tumor types can be difficult in high-grade cases, in which significant interobserver diagnostic disagreement exists. Endometrioid and clear cell carcinomas frequently harbor ARID1A and/or PTEN mutations. Serous carcinoma acquires TP53 mutations/inactivation at onset, with a significant subset harboring an additional mutation in PPP2R1A. This study examines the correlation between tumor histotype and genotype in 36 previously genotyped high-grade endometrial carcinomas. This included 23 endometrioid/clear cell genotype and 13 serous genotype tumors. Eight subspecialty pathologists reviewed representative online slides and rendered diagnoses before and after receiving p53, p16, and estrogen receptor immunostaining results. κ statistics for histotype-genotype concordance were calculated. The average κ values for histotype-genotype concordance was 0.55 (range, 0.30 to 0.67) on the basis of morphologic evaluation alone and it improved to 0.68 (range, 0.54 to 0.81) after immunophenotype consideration (P<0.001). Genotype-incompatible diagnoses were rendered by at least 2 pathologists in 12 of 36 cases (33%) (3 cases by 2/8 pathologists, 2 by 3/8, 2 by 4/8, 3 by 6/8, 1 by 7/8, and 1 case by 8/8 pathologists). Six of the 12 were endometrioid/clear cell genotype tumors, and the other 6 were serous genotype tumors. The histopathologic features associated with histotype-genotype-discordant cases were reviewed, and specific diagnostic recommendations were made to improve concordance. This study found that although the majority of morphologic diagnoses are genotype concordant, genotype-incompatible diagnoses are made in a significant subset of cases. Judicious use and interpretation of p53 immunohistochemistry in selected scenarios can improve histotype-genotype concordance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma, Clear Cell / genetics
  • Adenocarcinoma, Clear Cell / pathology
  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics*
  • Biopsy
  • Carcinoma / genetics*
  • Carcinoma / pathology*
  • Carcinoma, Endometrioid / genetics
  • Carcinoma, Endometrioid / pathology
  • Cyclin-Dependent Kinase Inhibitor p16 / analysis
  • DNA Mutational Analysis
  • DNA-Binding Proteins
  • Endometrial Neoplasms / chemistry
  • Endometrial Neoplasms / genetics*
  • Endometrial Neoplasms / pathology*
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Immunohistochemistry
  • Middle Aged
  • Mutation*
  • Neoplasm Grading
  • Neoplasms, Cystic, Mucinous, and Serous / genetics
  • Neoplasms, Cystic, Mucinous, and Serous / pathology
  • Nuclear Proteins / genetics
  • Observer Variation
  • PTEN Phosphohydrolase / genetics
  • Phenotype
  • Predictive Value of Tests
  • Protein Phosphatase 2 / genetics
  • Receptors, Estrogen / analysis
  • Reproducibility of Results
  • Tissue Array Analysis
  • Transcription Factors / genetics
  • Tumor Suppressor Protein p53 / genetics

Substances

  • ARID1A protein, human
  • Biomarkers, Tumor
  • Cyclin-Dependent Kinase Inhibitor p16
  • DNA-Binding Proteins
  • Nuclear Proteins
  • PPP2R1A protein, human
  • Receptors, Estrogen
  • TP53 protein, human
  • Transcription Factors
  • Tumor Suppressor Protein p53
  • Protein Phosphatase 2
  • PTEN Phosphohydrolase
  • PTEN protein, human