Renal disease in adults with TSC2/PKD1 contiguous gene syndrome

Guido Martignoni, Franco Bonetti, Maurizio Pea, Regina Tardanico, Matteo Brunelli, John N. Eble

Research output: Contribution to journalArticlepeer-review

72 Scopus citations


The most common renal lesions of tuberous sclerosis complex, an autosomal-dominant syndrome resulting from losses of TSC1 (9q34) or TSC2 (16p13.3), are renal cysts and angiomyolipomas. Epithelial neoplasms are less common. The TSC2 gene lies adjacent to PKD1, the major gene responsible for autosomal-dominant polycystic kidney disease. Recently, a deletion mutation disrupting both TSC2 and PKD1 has been described in young children with tuberous sclerosis complex with severe renal cystic disease. This disease has been termed the TSC2/PKD1 contiguous gene syndrome. We describe the lesions in the resected kidneys of two adults with TSC2/PDK1 contiguous gene syndrome, at the time of the nephrectomies: a 31-year-old man and his 44-year-old mother. The four kidneys were enlarged reniform masses composed of cysts lined by flattened, cuboidal, or, infrequently, large deeply eosinophilic epithelial cells. The kidneys also contained numerous classic angiomyolipomas and rare intraglomerular microlesions. In the son the largest tumor was a monotypic epithelioid angiomyolipoma. In the wall of his left renal pelvis there was a plaque-shaped, HMB-45-positive localized lesion of lymphangioleiomyomatosis. This is the first description of the renal lesions in adults with genetically confirmed TSC2/PDK1 contiguous gene syndrome. The pathologic findings highlight the importance of thorough sampling for histology in polycystic kidney diseases and indicate that the observation of an angiomyolipoma in biopsy material from patients with enlarged cystic kidneys should suggest the diagnosis of TSC2/PKD1 contiguous gene syndrome, even in cases without ultrasonographic and macroscopic evidence of angiomyolipoma.

Original languageEnglish (US)
Pages (from-to)198-205
Number of pages8
JournalAmerican Journal of Surgical Pathology
Issue number2
StatePublished - Feb 16 2002
Externally publishedYes


  • Angiomyolipoma
  • Autosomal-dominant polycystic kidney disease
  • Contiguous TSC2 and PKD1 gene syndrome
  • Epithelioid
  • HMB45
  • Lymphangioleiomyomatosis
  • Perivascular epithelioid cell
  • Tuberous sclerosis

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

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