PURPOSE

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a hereditary cancer syndrome associated with germline pathogenic variants of the fumarate hydratase (FH) are at risk for the development of benign renal cysts as well as an aggressive form of renal cell carcinoma which can occur inside the cysts. This study was conducted in order to assess the role of MR imaging characteristics of HLRCC-associated cystic lesions for distinguishing benign from malignant complex renal cysts in this patient population.

METHODS

This IRB-approved retrospective study included 42 HLRCC patients (mean age, 46 ± 14 years; men: women, 22:20) with a pathogenic FH germline variant with renal cysts on abdominal MRI. Between June 2002 and May 2022 these patients underwent partial or radical nephrectomy for surgical removal of 76 renal lesions suspicious for renal carcinomas. Two abdominal radiologists independently reviewed the MRI images of all lesions while blinded to the surgical pathology. The lesion characteristics, including location, 3D dimensions, internal composition, characteristics of the cyst wall, nodules, septations, enhancement patterns in different series and restricted diffusion on ADC, and b-2000 series were recorded.

RESULTS

Out of the 76 histologically characterized renal lesions, 44 (58%) were found to be benign and 32 (42%) were malignant. Malignant cystic lesions had a significantly larger mean diameter (4.0 ± 3.4 cm) compared to benign lesions (1.8 ± 2.1 cm, p = 0.002). Inter-reader agreement analysis identified 12 imaging features with moderate agreement (κ >0.4). Univariate analysis identified 8 significant predictors of malignancy: "combined areas of enhancement on T1-weighted images during the nephrogenic phase (the nephrogenic phase, occurring approximately 70 seconds after intravenous contrast injection)", "endophytic/exophytic mass", "presence of a nodule", and "nodule enhancement on T1 nephrogenic phase." The final multivariable model for Reader 1 achieved an AUC of 0.86 and for reader 2 with an AUC of 0.91, indicating high diagnostic accuracy. At a predicted-probability threshold of 0.17 (point = 60), the nomogram identified all malignant lesions and would have spared 57% of patients with benign cysts from unnecessary surgery.

CONCLUSION

Qualitative MRI features, including nodule presence, enhancement patterns, and lesion size, effectively differentiate between benign and malignant renal complex cysts in patients with HLRCC. The final multivariable model achieved high diagnostic, highlighting the potential of MRI in guiding clinical decision-making and improving management of cystic renal lesions in this high-risk population.