Retroperitoneal Sclerosing Angiomyolipoma with Long-Term Follow up: A Case Report with Unique Clinicopathologic and Genomic Profile

Int J Surg Pathol. 2022 Feb;30(1):86-90. doi: 10.1177/10668969211021483. Epub 2021 Jun 9.

Abstract

Sclerosing angiomyolipoma (sAML) is a rare variant of the perivascular epithelioid tumors exhibiting distinct morphology with extensive stromal hyalinization, which makes it challenging to recognize. It often lacks an adipose tissue component and melanocytic markers may be expressed only focally, further posing a diagnostic challenge. Here, we report a case of sAML of the left pararenal retroperitoneum in a 52-year-old woman with 92 months of clinical follow up and discuss the histologic features, immunoprofile, molecular alterations, and differential diagnoses that can aid in the diagnosis of this unique and rare entity.

Keywords: perivascular epithelioid tumors (PEComas); sclerosing angiomyolipoma; transcription factor E3 (TFE3) gene rearrangement.

Publication types

  • Case Reports

MeSH terms

  • Angiomyolipoma / diagnosis
  • Angiomyolipoma / genetics
  • Angiomyolipoma / pathology*
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics
  • Biomarkers, Tumor / genetics
  • Diagnosis, Differential
  • Female
  • Gene Rearrangement
  • Humans
  • Middle Aged
  • Retroperitoneal Neoplasms / diagnosis
  • Retroperitoneal Neoplasms / genetics
  • Retroperitoneal Neoplasms / pathology*

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Biomarkers, Tumor
  • TFE3 protein, human