Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma: Morphological appraisal with a comprehensive review of differential diagnoses

Ziad El-Zaatari, Mukul K. Divatia

Research output: Contribution to journalReview article

1 Scopus citations

Abstract

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant syndrome wherein affected individuals are at risk for the development of cutaneous leiomyomas, early-onset multiple uterine leiomyomas, and an aggressive subtype of renal cell cancer. HLRCC is caused by germline mutations in the fumarate hydratase (FH) gene, which inactivates the enzyme and alters the function of the tricarboxylic acid/Krebs cycle. This article reviews the hitherto described morphologic features of HLRCC-associated renal cell carcinoma (RCC) and outlines the differential diagnosis and ancillary use of immunohistochemistry and molecular diagnostics for these tumors. The morphologic spectrum of HLRCC-associated RCC is wide and histologic features, including tumor cells with prominent nucleoli, perinucleolar halos, and multiple architectural patterns within the same tumor, which are suggestive of this diagnosis. FH immunohistochemistry in conjunction with genetic counseling and germline FH testing are the important parameters for detection of this entity. These kidney tumors warrant prompt treatment as even smaller sized lesions can demonstrate aggressive behavior and systemic oncologic treatment in metastatic disease should, if possible, be part of a clinical trial. Screening procedures in HLRCC families should preferably be evaluated in large cohorts.

Original languageEnglish (US)
Pages (from-to)S7-S17
JournalIndian journal of pathology & microbiology
Volume63
Issue numberSupplement
DOIs
StatePublished - Feb 1 2020

Keywords

  • Collecting duct carcinoma
  • Hereditary leiomyomatosis and renal cell carcinoma
  • fumarate hydratase
  • papillary type 2 renal cancer
  • targeted therapy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Microbiology (medical)

Fingerprint Dive into the research topics of 'Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma: Morphological appraisal with a comprehensive review of differential diagnoses'. Together they form a unique fingerprint.

Cite this