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Tuberous sclerosis complex‑associated renal angiomyolipoma (TSC‑RAML) confers a high risk of bleeding and even mortality. However, data on TSC‑RAML in Chinese pedigrees is extremely lacking. The present study aimed to investigate its clinical and genetic characteristics by obtaining a detailed medical history from 6 probands and their family members, and reassessing blood tests, computed tomography and renal dynamic imaging examinations that were conducted in the TSC‑RAML patients. The TSC1/TSC2 mutation was detected in 2 families. A total of 3 TSC‑RAML patients underwent partial nephrectomy due to a high bleeding risk, and the other 2 were treated with everolimus. The remaining 6 TSC‑RAML patients received no clinical intervention and only had clinical follow‑uzp. It was found that nearly 37% (18/49) were TSC patients, with the mean ± standard deviation diagnostic age being 34.22±17.73 years old in the 6 pedigrees, 61% (11/18) of whom suffered from TSC‑RAML. In the 11 TSC‑RAML patients, the maximum diameter of the tumor ranged between 1.20 and 32.50 cm (mean ± standard deviation, 11.48±8.40 cm), the unilateral glomerular filtration rate ranged between 27.20 and 60.10 ml/min (mean ± standard deviation, 42.55±9.73 ml/min), the serum creatinine level ranged between 40.00 and 90.00 μmol/l (mean ± standard deviation, 64.84±16.15 μmol/l) and the hemoglobin concentration ranged between 76.00 and 140.00 g/l (mean ± standard deviation, 107.73±21.04 g/l). Pathogenic mutations of TSC1 (c.733C>T) and TSC2 (c.788_789insC) were detected in family B and C, respectively, as well as certain non‑pathogenic mutations, with the maximum diameter of TSC‑RAML being 0 cm and 10.3 cm in the two patients from family B and 16 cm and 1.2 cm in the two patients from family C. Expression of phosphorylated‑mechanistic target of rapamycin was determined in the TSC‑RAML tissues by immunohistochemistry. The maximum diameter of the tumor decreased by 4.90 and 5.30 cm, respectively, in the 2 patients treated with everolimus after 3 months. In conclusion, TSC cannot be easily diagnosed due to its variable characteristics. Growth of TSC‑RAML may increase the bleeding risk and reduce the level of hemoglobin, but it does not greatly affect renal function. Individual differences in tumor dimensions existed even with the same pathogenic mutation, except for cases of coexistent non‑pathogenic mutations. Everolimus treatment appears to be able to significantly reduce the size of TSC‑RAML. [ABSTRACT FROM AUTHOR]

Primary adrenal teratoma is extremely rare. To investigate the clinical characteristics and further enrich the limited knowledge on its diagnosis and treatment, the present study retrospectively analyzed the detailed clinical data of five patients with primary adrenal teratomas treated in the Peking Union Medical College Hospital (Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China) between March 2009 and February 2014. The five patients were female, aged from 16 to 51 years (mean, 36.0±16.3 years), with solitary lesions that were incidentally found on routine physical examinations. The tumor size ranged from 2.4 to 9.0 cm (mean, 6.0±2.7 cm). Ultrasonography revealed a mixed echo in four patients, and computed tomography showed mixed density masses with fat components and calcification in three patients. Adrenal-related endocrine tests were normal in all five patients, and no abnormalities were found in the three patients who underwent somatostatin receptor scintigraphy examination. All patients were treated with retroperitoneal laparoscopic surgery, with no complications, and the resected tumors were identified as mature cystic teratomas pathologically. To date, the patients have been followed up for 4-60 months post-operatively, with no recurrence. In conclusion, this rare adrenal teratoma is an occult entity to which reproductive females are susceptible. The tumor exhibits no typical clinical manifestations or adrenal-related laboratory abnormalities, and the pre-operative diagnosis mainly relies on imaging characteristics of a heterogeneous lesion containing fat components with scattered and marginal calcifications. The preferred treatment is retroperitoneal laparoscopic surgery, and the prognosis is good. [ABSTRACT FROM AUTHOR]