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High-grade oncocytic tumour (HOT) of kidney in a patient with tuberous sclerosis complex

Publication at Faculty of Medicine in Pilsen |
2019

Abstract

Sir: High-grade oncocytic tumour (HOT) was recently proposed as a novel renal entity that is currently not included in the World Health Organisation (WHO) classification.1 The first published series by He et al. included 14 tumours, collected from multiple institutional files.1 Recently, Chen et al. reported another series of seven morphologically very similar tumours that they designated 'sporadic renal cell carcinomas with eosinophilic and vacuolated cytoplasm'2 Using next-generation sequenncing they identified somatic inactivating mutations of TSC2 in three of five tumours tested or activating mutations of MTOR (in two of five tumours tested).1 We wishto report a novel example of this emerging entity which, in contrast to the cases reported so far, was see in a patient with a tuberous sclerosis complex(TSC). A 48-year-old female patient with a knows TSC presented with bilateral renal masses on routine ultrasound screening.

The patient's clinical manifestations of TSC included facial rash, nail changes and bilateral renal masses without a history of seizures or haematuria.