Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome: Spectrum of imaging findings

Anna K. Paschall, Moozhan Nikpanah, Faraz Farhadi, Elizabeth C. Jones, Paul G. Wakim, Andrew J. Dwyer, Rabindra Gautam, Maria J. Merino, Ramaprasad Srinivasan, W. Marston Linehan, Ashkan A. Malayeri

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Purpose: To retrospectively investigate the radiological presentations of HLRCC-associated renal tumors to facilitate accurate lesion characterization and compare these presentations with simple cysts and characteristics of other subtypes of renal cell carcinoma (RCC) as reported in the literature. Methods: The MRI and CT imaging characteristics of 39 pathologically confirmed lesions from 30 patients (20 male, 10 female) with HLRCC syndrome were evaluated by two radiologists. Patients had an average age at diagnosis of 43.8 ± 13.1 years. Lesion characteristics including laterality, homogeneity, diameter (cm), nodularity, septations, T1 and T2 signal intensity, enhancement, and restricted diffusion were recorded. Imaging characteristics of the lesions were further compared to characteristics of benign simple cysts surgically removed at the same time point. Results: The examined lesions had a mean diameter of 5.06 ± 3.80 cm, an average growth rate of 2.91 × 10−3 cm/day and an estimated annual growth rate of 1.06 cm/year. 50% of lesions demonstrated nodularity, 65% were mostly T2-hyperintense, 83% demonstrated restricted diffusion in solid portions of the lesions, and 65% had well-defined margins. 76% of patients demonstrated extra-renal manifestations, 53% lymphadenopathy, and 43% distant metastasis. Conclusions: Our analysis confirmed that while HLRCC-associated renal lesions demonstrate diversity in imaging presentations, the majority are unilateral and solitary, T2-hyperintense, heterogeneous with well-defined margins, and frequently demonstrate restricted diffusion and nodularity.

Original languageEnglish (US)
Pages (from-to)14-19
Number of pages6
JournalClinical Imaging
StatePublished - Dec 2020
Externally publishedYes


  • CT
  • Genitourinary
  • MRI
  • Papillary RCC
  • RCC

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging


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