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This paper reports the first published prevalence of Multiple endocrine neoplasia type 2B (MEN 2B). Estimates of the epidemiology of MEN 2B were based on a single population with one centralized genetic clinic. MEN 2B remains a relatively rare condition and can be easily missed if the diagnosis has not been considered. [ABSTRACT FROM AUTHOR]

Pediatric endocrine tumors are rare but have fairly characteristic presentations. We describe an approach to diagnosis and management of five of the most common presentations including gonadoblastoma, paraganglioma,medullary thyroid cancer, adrenal cancer, and pituitary adenoma. Genetic testing can aid in the early detection and prevention and management of tumors in patients and in other family members. [ABSTRACT FROM AUTHOR]

We discuss recent advances in the diagnosis and management of renal cell cancer (RCC) given the enhanced molecular genetics knowledge in this area. A number of hereditary renal cancer syndromes have been described, including von Hippel-Lindau disease, Birt-Hogg-Dubé syndrome, hereditary leiomyomatosis/RCC syndrome, and hereditary papillary renal cancer. Early molecular diagnosis now facilitates the management and prevention of RCC in families. Recommendations for screening in families are discussed. [ABSTRACT FROM AUTHOR]

The article discusses case study of a 27 year old man with right groin swelling, who was diagnosed with tuberous sclerosis complex (TSC) at the age of 1. Genetic testing of family members showed a TSC1 exon 17 mutation c.2074C>T (R692X) while histopathology confirmed a circumscribed mass with pathology consistent with a Leydig cell tumor (LCT). Based on this case, the role of TSC genes in LCT development was examined which showed that LCTs in this patient occurred independent of the mutation.

The article offers information on tuberous sclerosis complex (TSC), a rare disorder causing brain tumors, citing a case study of an 8-year-old boy with TSC2 1801A>G mutation. A clinical image of the patient showing forehead plaque, angiofibromas and shagreen patch is presented, which forms major features for diagnosis of TSC. The need for oncologists to correctly diagnose TSC in patients with renal tumors is highlighted. Treatment of subependymal giant cell astrocytomas (SEGAs) is included.