Abstract
The germline mutation of the TSC1/2 gene in bilateral renal angiomyolipomas is unclear. Meanwhile, the mutation spectrum of Chinese TSC patients has not been revealed. We recruited 78 patients diagnosed with bilateral renal AMLs. High-throughput sequencing was used to detect any variants in TSC1/2 genes. The results showed that 28.6% of patients diagnosed before 45 were with positive results of TSC1/2 test. The rate decreased to 14.3% for those with onset age over 45. For the 315 previously reported Chinese patients, TSC1 patients were more likely to be affected by nonsense mutations (51.1% vs. 20.7%, p<0.001) and had a significantly higher rate of family history than TSC2 patients (37.8% vs. 19.6%, p=0.0067). Moreover, exon8, 15, and 18 were the hotspot mutation regions for TSC1, and exon 29, 33 and 40 were the most common mutation regions for TSC2. Besides, Chinese TSC patients carried more TSC2 alterations (85.7% vs.76.2%, p<0.001), and were more likely to have a family history than those from TOSCA (22.2% vs. 13.9%, p<0.001). In conclusion, patients affected by bilateral renal AMLs should receive genetic testing of TSC ½ genes and Chinese TSC patients have relatively hotspot mutation regions, which are helpful to genetic counseling and clinical decision making.
Highlights
Angiomyolipoma (AML) is one of the most common benign solid tumors in the kidney [1]
We described the mutation spectrum of TSC1/2 genes among Chinese tuberous sclerosis complex (TSC) patients and found that almost all types of TSC1/2 variants occurred in Chinese patients
A total of 49 patients were affected by only bilateral RAMLs, while the other 29 patients were affected by bilateral RAMLs and at least one TSCrelated tumors (Table 1)
Summary
Angiomyolipoma (AML) is one of the most common benign solid tumors in the kidney [1]. It is characterized by different proportions of blood vessels, smooth muscle, and fat [2]. The epithelioid AML, especially the pure epithelioid renal AML (PECOMA), could be potentially aggressive [3]. AML tends to be more common in female patients with a female to male ratio of 2:1 [4]. Abdominal pain and hematuria are the most reported symptoms. With the widespread use of CT and ultrasound, more incidental AMLs are diagnosed [5]
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