Complete surgical excision remains the mainstay of treatment for both HPC types. In unresectable adult-type HPC adjuvant chemo- and radiotherapy should be administered in macro- and microscopic tumor residues, but the prognosis is poor despite supplemental treatment. High chemo-responsiveness of infantile-type HPC produces a favorable outcome even in cases of unresectable, life-threatening tumors.

RCC in children is mostly operable at diagnosis, resulting in good prognosis. The role of adjuvant chemo- and immunotherapies is unclear. Neoadjuvant chemotherapy proven for children with Wilms' tumors is ineffective, but the delay in adequate therapy did not worsen the outcome if complete nephrectomy is done subsequently.

Of these 34 patients, 11 initially had CS I, seven were at CS II, four were at CS III, 11 were at CS IV and one had CS V. There were eight patients with second recurrences; of these, seven were in the INT risk group and one in the high histological risk group. There was no correlation between age (p = 0.256) or gender (p = 0.538) and the risk of tumor recurrence. In the study group, seven out of 10 patients with local recurrences are alive; as are 13 out of 22 patients with distant recurrences

Mutations or deletions of ANKRD11 gene are responsible for the symptoms of KBG syndrome. The KBG syndrome is a rare genetic disorder which is inherited in an autosomal dominant manner. Affected patients usually have characteristic facial features, macrodontia of the upper central incisors, hand abnormalities, developmental delay and short stature. In the present article we would like to report a clinical and molecular case study of two patients affected by KBG syndrome. The diagnosis of the first patient was confirmed by the identification of the novel pathogenic variant in ANKRD11 gene by next-generation sequencing. The second patient was diagnosed after the detection of a 16q24.2q24.3 deletion encompassing the ANKRD11 gene microarray.

No abstract