Ectopic mediastinal parathyroid carcinoma presenting as acute pancreatitis.

Parathyroid carcinoma is a rare cause of hyperparathyroidism, accounting for fewer than 1% of cases. The incidence of acute pancreatitis in patients with hyperparathyroidism was reported to be only 1.5%. We report a very rare case of ectopic mediastinal parathyroid carcinoma presenting as acute pancreatitis. A 72-year-old man presented with acute pancreatitis and hypercalcemia. During the work-up for hypercalcemia, a mediastinal parathyroid tumor was identified by (99m)Tc-sestamibi scintigraphy and magnetic resonance imaging. The tumor was completely removed via a lower cervical collar incision. The histopathology revealed parathyroid carcinoma. There was no tumor recurrence or abdominal symptoms at 3-year follow-up.

Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a.

The manifestations of glycogen storage disease type 1a (GSD 1a) are usually so prominent in childhood that it is readily diagnosed by pediatricians. However, a mild form of the disease may only become apparent during adolescence or adulthood. We observed a brother and sister with subtle manifestations of the disease, which was discovered after the brother's son was diagnosed with typical GSD 1a. The adult siblings never suffered from hypoglycemia, had normal fasting blood glucose and liver transaminases at the time of diagnosis, and were taller than average for Chinese. Their only notable disease manifestations were recurrent gouty arthritis associated with hyperuricemia and hyperlipidemia during adolescence. When diagnosed, the brother had multiple benign and malignant hepatic tumors, and died of fulminant metastatic hepatocellular carcinoma 6 months after liver transplantation. p.M121V/p.R83H and p.M121V/p.M121V genotypic constellations of the G6PC gene were identified in this family. Both siblings were homozygous for the newly identified p.M121V mutation. The infant had compound heterozygous mutations, p.R83H and p.M121V. We recommend that mild GSD should be considered in the adolescents with unexplained hyperuricemia and hyperlipidemia, despite the presence of normal blood glucose levels. This report also reminds us that hepatocellular carcinoma could develop even in very mild GSD 1a patients.

Activation of the PI3K/Akt/mTOR pathway correlates with tumour progression and reduced survival in patients with urothelial carcinoma of the urinary bladder.

AIMS: Phosphatidylinositol 3-kinase (PI3K)/Akt/mammalian target of rapamycin (mTOR) pathway dysregulation has been implicated in the development of urothelial carcinoma. However, its clinical relevance has not been substantially validated in human samples. The aim of this study was to assess the expression of the pathway in a large cohort of bladder cancers using the tissue microarray technique. METHODS AND RESULTS: Immunohistochemical stains for phosphatase and tensin homologue (PTEN), phosphorylated Akt, mTOR, S6 and 4E-BP1 were performed for 887 cases, and the results were correlated with clinicopathological characteristics. The high expression of p-S6 and p-Akt corresponded significantly with high-grade and advanced-stage, while losses of PTEN and p-4E-BP1 were observed more often in high-grade and high-stage tumours. High expression of p-Akt and p-S6 predicted progression and cancer-specific mortality for non-muscle-invasive cancers treated by transurethral resection, and p-Akt was an independent factor in multivariate analysis. High expression of p-mTOR and p-Akt correlated with higher cumulative incidence of cancer-specific mortality for muscle-invasive cancer, and p-mTOR was an independent prognostic factor. CONCLUSIONS: We have demonstrated the impact of PI3K/Akt/mTOR alteration on the biological behaviour of bladder tumours. Proper immunohistochemical examination of the PI3K/Akt/mTOR pathway can provide useful prognostic information, and the findings may represent an additional therapeutic avenue in the treatment of bladder cancers.

Constructing prognostic model incorporating the 2004 WHO/ISUP classification for patients with non-muscle-invasive urothelial tumours of the urinary bladder.

AIM: To construct a prognostic model for recurrence-free survival (RFS), progression-free survival (PFS) and cancer-specific survival (CSS) for patients who have undergone transurethral resection of non-muscle-invasive (pTa/pT1) urinary bladder urothelial tumours. METHODS: 1366 patients who had undergone transurethral resection of primary non-muscle-invasive urothelial tumours (pTa, 891 patients; pT1, 475 patients) confined to the bladder were retrospectively studied. Tumours were classified according to the 2004 WHO/International Society of Urologic Pathology grading system. Kaplan-Meier and stepwise Cox regression models were applied, and 200 bootstrap resamples were used to generate survival estimates and 95% CIs. A nomogram was developed that incorporated significant variables predicting survival. RESULTS: RFS, PFS and CSS probabilities for non-muscle-invasive bladder urothelial tumours were calculated. Incorporating salient prognostic factors (tumour grade, pT stage, patient age, status of intravesical instillation), the model satisfactorily predicted PFS (concordance index=0.79) and CSS (concordance index=0.87). CONCLUSIONS: Robust nomograms were created to predict PFS and CSS. These data provide an overall perspective of disease outcomes which may aid in developing individualised follow-up programmes.

Prognostic significance of the 2004 WHO/ISUP classification for prediction of recurrence, progression, and cancer-specific mortality of non-muscle-invasive urothelial tumors of the urinary bladder: a clinicopathologic study of 1,515 cases.

To verify prognostic significance of the 2004 World Health Organization (WHO)/International Society of Urological Pathology (ISUP) grading systems, we retrospectively studied the tumors of 1,515 patients who underwent transurethral resection of primary non-muscle-invasive urothelial tumors (pTa, 1,006 patients; pT1, 509 patients) confined to the bladder. Cases were classified according to the 2004 WHO/ISUP systems as 212 cases of papillary urothelial neoplasm of low malignant potential (PUNLMP), 706 low-grade papillary urothelial carcinomas (LPUCs), and 597 high-grade papillary urothelial carcinomas (HPUCs). PUNLMP showed the statistically significantly lowest recurrence cumulative incidence compared with the other tumor types. There were significant differences and trends for higher progression and cancer-specific mortality cumulative incidence in the following order: PUNLMP, LPUC, pTa HPUC, and pT1 HPUC. No differences of progression and cancer-specific mortality cumulative incidence were found between pTa and pT1 LPUC. Our study validates the usefulness of the 2004 WHO/ISUP system to classify urothelial tumors into prognostically distinct categories that would contribute to the design of therapeutic and monitoring strategies for patients with non-muscle-invasive bladder urothelial tumors.

Pyogenic portal vein thrombosis as a reservoir of persistent septicemia after cyanoacrylate injection for bleeding gastric varices.

Gastric variceal bleeding is a serious complication of liver cirrhosis. A recent consensus suggested that endoscopic injection of tissue glue for gastric variceal obliteration (GVO) should be the first choice for treatment of acute gastric variceal bleeding. Following the widespread use of GVO, more severe complications such as needle cementation, fistula formation, embolic sequels, recurrent septicemia, etc., have been reported. We present the first case of GVO-complicated pyogenic portosplenic vein thrombosis which led to persistent Klebsiella pneumoniae septicemia. The foreign body of a glue plug offers an ideal surface for bacterial colonization which becomes a reservoir for continuous bacterial dissemination. The mechanism was proven by ribotyping of the microorganism and postmortem pathology.

Primary synovial sarcoma of the posterior chest wall.

Synovial sarcoma is a malignant soft-tissue tumor that most commonly occurs in the extremities of young adults. Only several cases of synovial sarcomas of the chest wall and pleura had been reported. We present a 24-year-old man who had right back pain, chest pain, dyspnea, and intermittent fever from a huge primary synovial sarcoma of the right posterior chest wall. Multimodality therapies, including surgical resection, and chemotherapy and radiation therapy were applied, but the tumor progressed rapidly and the patient died 6 months after diagnosis. Prompt diagnosis and aggressive surgical resection is mandatory for primary synovial sarcoma of the chest wall because of its aggressive behavior.