Absence of clinical benefit of FDG PET-CT in staging T1 part-solid lung adenocarcinoma.

AIM: To assess the rates of nodal and metastatic disease and change in management when staging part-solid T1 lung adenocarcinomas using integrated 2-[18F]-fluoro-2-deoxy-d-glucose (FDG) positron-emission tomography (PET)-computed tomography (CT) in a UK population. MATERIALS AND METHODS: This was a retrospective review of PET-CT examinations performed to stage radiologically suspected T1 part-solid lung adenocarcinoma (n=58) from two different centres. Rates of detection of nodal and metastatic disease, change in management, and final patient outcome were recorded. RESULTS: PET-CT changed the stage in one patient from N0 to N1. It did not change final management in any patient. CONCLUSIONS: In this UK population, PET-CT had minimal additional diagnostic benefit in staging patients with T1 part-solid lung adenocarcinoma. Especially given its cost, the inclusion of PET-CT for this indication in guidelines should be reviewed.

Scintimammography: a pictorial review of the variable normal, post surgical and pathological appearances.

Scintimammography has a high specificity and sensitivity for the detection of primary and metastatic breast carcinoma and in the evaluation of the postoperative breast. This review highlights the spectrum of pathological features as well as the normal postoperative and postreconstruction changes and the variable normal appearances that may be encountered with this technique.

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Dominant optic atrophy (DOA) is the commonest form of inherited optic neuropathy. Although heterogeneous, a major locus has been mapped to chromosome 3q28 and the gene responsible, OPA1, was recently identified. We therefore screened a panel of 35 DOA patients for mutations in OPA1. This revealed 14 novel mutations and a further three known mutations, which together accounted for 20 of the 35 families (57%) included in this study. This more than doubles the number of OPA1 mutations reported in the literature, bringing the total to 25. These are predominantly null mutations generating truncated proteins, strongly suggesting that the mechanism underlying DOA is haploinsufficiency. The mutations are largely family-specific, although a common 4 bp deletion in exon 27 (eight different families) and missense mutations in exons 8 (two families) and 9 (two families) have been identified. Haplotype analysis of individuals with the exon 27 2708del(TTAG) mutation suggests that this is a mutation hotspot and not an ancient mutation, thus excluding a major founder effect at the OPA1 locus. The mutation screening in this study also identified a number of asymptomatic individuals with OPA1 mutations. A re-calculation of the penetrance of this disorder within two of our families indicates figures as low as 43 and 62% associated with the 2708del(TTAG) mutation. If haploinsufficiency is the mechanism underlying DOA it is unlikely that this figure will be mutation-specific, indicating that the penetrance in DOA is much lower than the 98% reported previously. To investigate whether Leber's hereditary optic neuropathy (LHON) could be caused by mutations in OPA1 we also screened a panel of 28 LHON patients who tested negatively for the three major LHON mutations. No mutations were identified in any LHON patients, indicating that DOA and LHON are genetically distinct.

Pictorial review. Ultrasound of the testis.

Ultrasound examination is the primary imaging investigation used in initial evaluation of the symptomatic testis. In this review the ultrasound appearances of a range of testicular lesions are demonstrated. Particular attention is given to the subject of testicular microlithiasis and its link with germ-cell neoplasia, and also to the sonographic features of epidermoid cysts that may allow testis-sparing surgery.

Ultrasound features of folded lung.

The ultrasound features of folded lung (rounded atelectasis) have not been described previously. The US findings of folded lung in fourteen patients and correlation with computed tomography are presented. The principal US findings were a pleurally based 'mass' and thickening of the adjacent pleura and extrapleural fat. A highly echogenic line extending from the pleural surface into the mass was seen in 12 patients (86%). We believe this finding corresponds to the scarred invaginated pleura as demonstrated in pathological studies of this condition.

Removal of a submandibular duct calculus with a vascular snare.

Conventional management of calculi in the distal portion of the submandibular duct involves surgery under general anaesthesia. We report here a patient whose calculus was successfully removed non-surgically as an outpatient with a vascular snare.