Renal angiomyolipoma-patient characteristics and treatment with focus on active surveillance

Abstract

Objectives: To present a patient material of renal angiomyolipoma (AML) with focus on the risk of bleeding during active surveillance (AS). Methods: Medical records, 1999-2014, were studied and 98 patients (80 female, 18 men) with renal AML were identified. Eleven patients had tuberous sclerosis complex (TSC). Mean age was 54 (13-89) years. Results: Sixty patients (61%) were asymptomatic at presentation, 33 (34%) presented with flank pain and five (5%) with hematuria. Retroperitoneal bleeding or hematuria was diagnosed in 20 patients with a mean AML size of 74 mm (25-200 mm). Twenty-one patients were treated with angioembolization at time of diagnosis and 25 had surgery. Forty-five patients with sporadic AML (mean size 34 mm) and six with TSC (mean size 120 mm) were selected for AS. Only one patient with sporadic AML (46 mm) had a bleeding, whereas two of the six TSC patients had bleedings from three kidneys (AML 70-300 mm). In 25 patients (49%), the AML-size increased with 2.7 mm/year in sporadic and 5.4 mm/ year in TSC-associated AML. Thirteen patients were treated with AE (including all six TSC-patients) and five with surgery in 22 kidneys due to AML-size in 16, bleeding in four and suspicion of cancer in two. Conclusion: Bleeding occurred in 20% of AML at presentation. In patients selected for AS, we found a very low risk of bleeding in sporadic AML justifying our cut off size of 50 mm to trigger intervention. In TSC-associated AML individually tailored follow-up is needed due to a higher intervention rate.

Is There a Higher Incidence of Sporadic Renal Angiomyolipoma in Childhood Cancer Survivors?

“…Despite our smaller cohort, the occurrence of SAMLs in CCSs was conclusively higher, ie at least 10 times higher (according to the conservative and almost certainly underestimated observed frequency) than that in the general population. Moreover, the CCSs in our sample were substantially younger than the ages reported in other studies in “non-cancer populations” (median age, CCSs vs general population: 27.9 years vs 50–60 years), 1 , 3 , 5 , 7 , 14 , 16 which is another reason to expect the occurrence of SAML in CCSs to be in fact even higher after the CCSs reach a comparable age.…”

“…This contrasts with the general population where multiple and bilateral SAMLs are rare. 2 , 3 , 5 In a cohort of 1493 non-cancer patients with SAMLs, Hussain et al 2 observed only 11% with multiple and 6% with bilateral lesions. Our current observation does not support a simple direct effect of radiotherapy, as only 8% of the CCSs with multiple lesions and 2% of the CCSs with bilateral lesions developed their SAMLs in the field of radiotherapy.…”

“…Literature regarding angiomyolipomas in younger people is scarce, but an association with tuberous sclerosis complex (TSC) has been identified. 1 , 3 For this genetic syndrome (GS) multiple and bilateral lesions and no female predominance are typical. 2 , 3 , 7 Angiomyolipomas occurs in 55–90% of TSC patients.…”

“… 1 , 3 For this genetic syndrome (GS) multiple and bilateral lesions and no female predominance are typical. 2 , 3 , 7 Angiomyolipomas occurs in 55–90% of TSC patients. 3 , 4 TSC is caused by inactivating heterozygous or mosaic mutations in TSC2 (~4/5) or TSC1 gene (~1/5), 8 , 9 and angiomyolipomas in TSC patients have a biallelic inactivation of either the TSC2 or TSC1 gene.…”

“… 2 , 3 , 7 Angiomyolipomas occurs in 55–90% of TSC patients. 3 , 4 TSC is caused by inactivating heterozygous or mosaic mutations in TSC2 (~4/5) or TSC1 gene (~1/5), 8 , 9 and angiomyolipomas in TSC patients have a biallelic inactivation of either the TSC2 or TSC1 gene. 8–10 Although according to non-cancer studies 3 , 7 , 11 the etiology of SAMLs is unknown, Giannikou et al 8 and Henske et al 10 detected somatic biallelic TSC2 inactivation in patients with SAMLs without TSC.…”