Background: Upper urothelial cancer (UUC), i.e. transitional cell carcinomas of the renal pelvis and the ureter, occur at an increased frequency in patients with hereditary nonpolyposis colorectal cancer (HNPCC). Defective mismatch repair (MMR) specifically characterizes HNPCC-associated tumors, but also occurs in subsets of some sporadic tumors, e.g. in gastrointestinal cancer and endometrial cancer.

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A 55-year-old woman with a history of bowel dysmotility presented with abdominal distension and peritonitis. Family history included premature deaths with intestinal symptomatology, suggesting autosomal dominant inheritance. Computed tomography showed a distended small bowel. Symptoms were alleviated by enterocutaneous stomas. Initial ileal biopsy suggested neuropathy; however, exome sequencing revealed an Arg148Ser mutation in the enteric smooth muscle actin gamma 2 (ACTG2) gene. Histological reassessment showed abnormal muscularis propria and smooth muscle actin, with the same findings in sibling, confirming familial visceral myopathy. Thus, noninvasive genomic analysis can provide early and specific diagnosis of familial visceral myopathy, which may help to avoid inappropriate surgery.

This study provides further evidence for the stem cell character of ALDH1+ cells, here in benign breast tissue of cancer and non-cancer patients throughout non-lactating adult life, and contributes evidence of benign stromal ALDH1+ cells. The distribution of ductular ALDH1+ stem cells appears to be influenced by hormonal status.

7 0 3• A literature search was conducted to identify peer-reviewed study reports on the sensitivity of fl uorescent-light cystoscopy (FLC) for the detection of carcinoma in situ (CIS) of the bladder.• Data from 16 original studies comprising 1503 patients were pooled.• The claimed sensitivity of FLC for detecting patients with CIS using the most commonly reported intravesical agents 5-aminolevulinic acid or hexaminolevulinic acid was 92.4%, while that of white-light cystoscopy (WLC) was 60.5%. The two agents did not differ signifi cantly for sensitivity.• It must be pointed out that a ' gold standard ' is lacking in FLC studies.• The occurrence of CIS of the bladder can only be established by the pathological examination of whole bladders. The true sensitivities of various modes of cystoscopy for detecting CIS can be revealed if patients scheduled for cystectomy are fi rst examined with WLC, FLC, and optionally random biopsies.• The absolute sensitivity of FLC for detecting CIS of the bladder is not yet known. According to the WHO, CIS is the condition in which cells with nuclear anaplasia identical to high-grade urothelial carcinoma are present in fl at urothelium without invasion. The diagnostic accuracy of general pathologists for CIS has been examined in a study by Isfoss et al . [ 4 ] indicating low-tomoderate sensitivity (56 -69%) but no false positives. KEYWORDSThe fi rst mention of CIS concomitant with papillary or invasive bladder cancer was made by Melicow [ 5 ] Melamed et al . [ 6 ] found that CIS does not regress, and that it progresses to invasive disease in 42% of cases. Koss et al . [ 7,8 ] showed that all cystectomy specimens with bladder cancer not controllable by transurethral resection also contain areas of CIS. They suggested that recurrence and invasion most often occurs from CIS rather than from papillary urothelial neoplasia (PUN). Brawn [ 9 ] found that most patients with invasive carcinoma neither have nor had PUN, also suggesting CIS as the origin of most invasive bladder cancers. A Mayo Clinic investigation into the clinical course of 486 patients concluded that CIS still persisting after 6 -9 months of intravesical treatment should be treated with cystectomy [ 10 ] . Bush et al . [ 11 ] presented an early form of non-WLC in 1967, and in 1970 this method was suggested by Utz et al .[ 12 ] to be of signifi cant value in the management of CIS. In 1996 a study of FLC on > 100 patients was presented by Kriegmair et al . [ 13 ] . What ' s known on the subject? and What does the study add? Fluorescent-light cystoscopy has a high sensitivity, relative to that of white light cystoscopy, for carcinoma in situ of the bladder. However, this systematic review reveals that the absolute sensitivity is unknown due to the absence of proper gold standard which is microscopic examination of whole bladders.