Extrarenal renal cell carcinoma arising in the kidney proximity but without an identifiable renal primary - an intriguing dilemma: report of three cases and review of the literature.

AIM: To raise awareness of the existence of extrarenal renal cell carcinoma (RCC). METHODS AND RESULTS: We report three patients with extrarenal RCC found in the renal proximity, but unattached to the kidney. None had a history of RCC or an identifiable primary renal neoplasm at the time of the diagnosis and on follow-up. The patients included two males and one female aged 57, 77, and 63 years, respectively. One carcinoma was found in the perirenal tissue adjacent to the adrenal, one involved the adrenal gland, and one was a retroperitoneal mass found within the lymph nodes. Two extrarenal RCCs represented clear-cell RCCs and one was an unclassifiable RCC. No patient had evidence of metastases at presentation and disease progression during the follow-up. This report adds to the literature on this unusual clinical scenario and further supports the concept of extrarenal RCC, which is not a well-recognized clinical phenomenon. We also reviewed other similar reports documenting the absence of identifiable renal primaries in the setting of either disseminated metastatic disease or isolated distant metastases of presumed renal origin. Similarly, some carcinomas of apparent renal derivation have been also identified during a work-up of metastatic carcinomas of unknown primary. CONCLUSIONS: There should be an awareness of this unusual and intriguing clinical scenario that currently lacks a definitive explanation and standardized therapy strategies. Establishing a correct diagnosis may allow treatment with specific targeted therapies in selected clinical cases.

Hyperspectral Imaging-A Novel Tool to Assess Tissue Perfusion and Oxygenation in Esophageal Anastomoses.

Anastomotic stricture and leakage are common complications after repair of esophageal atresia (EA). A compromised perfusion of the anastomosis is a contributing factor. Hyperspectral imaging (HSI) is an ultrashort noninvasive method to measure tissue perfusion. We present two cases of with tracheoesophageal fistula (TEF)/EA repair, in whom we applied HSI: the first patient was a newborn with EA type C who underwent open TEF repair. The second one had an EA type A and cervical esophagostomy, in whom we performed gastric transposition. In both patients, HSI confirmed a good tissue perfusion of the later anastomosis. The postoperative course was uneventful and both patients are on full enteral feeds. We conclude that HSI is a safe and noninvasive tool that allows near real-time assessment of tissue perfusion and can contribute to the identification of the optimal anastomotic region during pediatric esophageal surgery.

Inactivating Mutations of RB1 and TP53 Correlate With Sarcomatous Histomorphology and Metastasis/Recurrence in Gastrointestinal Stromal Tumors.

OBJECTIVES: Loss-of-function mutations in TP53 and CDKN2A have been found at varying frequencies in gastrointestinal stromal tumors (GISTs), while no mutations of RB1 have been reported to date. The aim of the current study was to determine the mutation frequency of TP53, RB1, and CDKN2A in GISTs. METHODS: A cohort of 83 primary untreated GISTs was analyzed for mutations in TP53, RB1, and CDKN2A by massive parallel sequencing. Tumors with mutations in TP53 and RB1 were analyzed by fluorescence in situ hybridization for the corresponding gene loci. RESULTS: Two GISTs harbored inactivating mutations in RB1, and two other GISTs displayed inactivating mutations in TP53 All four tumors were KIT mutant high-risk tumors with highly cellular sarcomatous histomorphology and variable combinations of plump spindle cells to epithelioid highly atypical cells and high mitotic activity. Three of these patients developed recurrent or metastatic disease, while the fourth patient showed tumor rupture intraoperatively. The combined overall frequency of TP53 and RB1 mutations was 13% considering high-risk or malignant GISTs. CONCLUSIONS: TP53 and RB1 mutations seem to be restricted to high-risk/malignant GISTs and occur at an equal although relatively low frequency.