Clear Cell Odontogenic Carcinoma: First Report of Novel EWSR1-CREM Fusion Gene in Case of Long-Term Misdiagnosis.

Clear Cell odontogenic Carcinomas (CCOC) are rare, aggressive malignant odontogenic tumours which are often misdiagnosed as benign odontogenic tumours due to the non-specific histologic appearance, and benign early clinical presentation. However, due to their propensity to metastasize, the best outcomes are experienced with they are diagnosed early and treated aggressively. In this paper, we present a case of a CCOC misdiagnosed as a clear cell calcifying epithelial odontogenic tumour which was only found to be a CCOC after cervical node metastasis. The original diagnosis was questioned and confirmed to be a CCOC by identification of the chromosomal translocation EWSR1 on fluorescence in situ hybridization. This has recently been described in CCOC and a wide variety of other mesenchymal and epithelial neoplasms. Previous reports have demonstrated EWSR1-ATF1 and EWSR1-CREB1 fusions in CCOC. Next generation sequencing of this case demonstrated the EWSR1-CREM fusion gene which has not been previously reported for CCOC. CREM fusion proteins have only recently been found in several tumour types including the closely associated hyalinizing clear cell carcinoma of salivary glands. This is discussed in this paper, and the role of the discovery of the CREM fusion protein in CCOC adds to your understating of the role of CREM in oncogenesis, and the possible link between CCOCs and hyalinizing clear cell carcinomas.

The modified Brunelli procedure for scapholunate instability: a single centre study.

Management of scapholunate (SL) instability remains controversial. The modified Brunelli procedure is a soft tissue procedure that recreates the stabilising forces of the SL ligament using a split flexor carpi radialis tendon graft passed from volar to dorsal via a tunnel in the distal pole of the scaphoid. Thirteen consecutive patients with an average age of 35 years underwent the modified Brunelli procedure. Pain improved from a mean visual analog score of eight preoperatively to 1.5. The DASH score improved from a preoperative score of 55.4 to 34.9 as did the grip strength from 40% to 75% respectively. All wrist ranges of motion were decreased post-operatively in particular wrist flexion. SL ligament reconstruction using the modified Brunelli procedure resulted in satisfactory outcomes. Post-operatively patients were relatively pain free, with improved grip strength. The range of motion was reduced postoperatively, however did not restrict return to work or premorbid activities.

Hemolytic uremic syndrome in association with typhoid fever.

BACKGROUND: Hemolytic uremic syndrome (HUS) has been associated with typhoid fever caused by Salmonella typhi. The pathogenesis of HUS in the context of S typhi infection is not known. The authors report on a patient with typhoid fever in whom HUS and myocarditis developed during the course of his illness and in whom there was no evidence of a Shiga-toxin (Stx)-producing organism. METHODS: Antibodies directed against the Escherichia coli O157:H7 and S typhi lipopolysaccharide (LPS) were sought in the serum sample taken during the acute phase using line-blot immunoassays. Polymerase chain reaction was performed to detect the presence of stx1 and stx2 genes in the patient's S typhi isolate. RESULTS: There was no evidence for immunoglobulin (Ig) M and IgA against the LPS of E coli O157:H7, whereas anti-S typhi LPS IgM and IgA were strongly positive. In the polymerase chain reaction, DNA from the Stx-producing E coli controls yielded stx1 and stx2 fragments of the expected sizes on agarose gel electrophoresis, whereas no stx1 and stx2 fragments were obtained from the S typhi isolate. The S typhi did, however, yield a band when amplified with primers specific for viaB, an S typhi gene. CONCLUSION: S typhi may be responsible for some cases of HUS, and the inciting toxin may not be Stx.