Conflicting pathology reports: a diagnostic dilemma

Abstract

The differential diagnosis of a brain lesion with two discordant pathology reports includes the presence of collision tumor, metaplastic changes, and labeling errors that occurred during the processing of the specimen. The authors present a case in which the first brain biopsy from a 47-year-old patient with a history of heavy smoking was compatible with metastatic small cell carcinoma, and the second biopsy taken during decompression craniotomy 3 weeks later was compatible with WHO Grade IV glioblastoma. Using short tandem repeat (STR) analysis of the two specimens and nontumor-derived patient DNA, the authors found that the two specimens did not belong to the same individual. The authors conclude that allele imbalance or loss of heterozygosity detected by STR analysis is a reliable and valuable diagnostic tool for clarifying discrepancies in discordant pathology reports.

Keywords: LOH; LOH = loss of heterozygosity; PCR = polymerase chain reaction; STR = short tandem repeat; brain metastasis; clonality; collision tumor; diagnostic pathology errors; glioblastoma; loss of heterozygosity; oncology.