Lichen sclerosus and isolated bulbar urethral stricture disease.

PURPOSE: Lichen sclerosus is a chronic inflammatory genital skin condition that can cause destructive urethral scarring. To our knowledge no prior study has described lichen sclerosus in isolated bulbar urethral stricture segments without progressive disease originating from the penile urethra. We report the incidence of lichen sclerosus in isolated bulbar urethral stricture segments. MATERIALS AND METHODS: We retrospectively reviewed the records of 70 patients after urethroplasty for isolated bulbar stricture disease was performed from 2007 to 2013. Stricture specimens were re-reviewed by a single uropathologist. Cases were evaluated using common histological features of lichen sclerosus, including hyperkeratosis or epithelial atrophy, basal cell vacuolar degeneration, lichenoid lymphocytic infiltrate and superepithelial sclerosis. RESULTS: Average patient age was 46.5 years (range 19 to 77) and average stricture length was 3.5 cm (range 1 to 7). Of the patients 51 (73.0%) underwent excision and primary anastomosis, and 19 (27.1%) underwent buccal mucosal onlay. In 6 patients (8.6%) stricture recurred during a median followup of 22 months (IQR 14, 44). Three of those patients had lichen sclerosus. Initial pathology assessment revealed lichen sclerosus in 5 patients (7.1%, 95% CI 1.0-13.3). On re-review of specimens using pathology criteria specific to lichen sclerosus 31 patients (44.3%, 95% CI 32.4-56.2) showed pathology findings highly suggestive of (13) or diagnostic for (18) lichen sclerosus (p = 0.0001). On pathological re-review lichen sclerosus was associated with recurrent stricture. CONCLUSIONS: On re-review of surgical specimens we noted a significant incidence of lichen sclerosus in isolated bulbar strictures in men undergoing urethroplasty. The incidence of lichen sclerosus may be higher than reported in isolated bulbar urethral segments without evidence of distal to proximal progressive urethral disease.

Coexistent Dedifferentiated Endometrioid Carcinoma of the Uterus and Adenocarcinoma of the Bladder in Lynch Syndrome: Case Report and Review of the Literature.

Lynch syndrome is an autosomal dominant disorder, caused by an abnormality in DNA mismatch repair genes and characterized by the development of a variety of cancers. Upper urinary tract urothelial carcinoma is well characterized in Lynch syndrome; however, support for the inclusion of bladder urothelial carcinoma is limited, except for MSH2 mutation carriers. Urologic adenocarcinoma has not been documented in Lynch syndrome. Here we report, to the best of our knowledge, the first case of bladder adenocarcinoma, synchronous with uterine endometrioid dedifferentiated endometrioid adenocarcinoma in a patient with Lynch syndrome. We present a 47-year-old woman with an MLH1 gene mutation (G133X 397G>T) who presented with menorrhagia. Eleven family members have this mutation, 6 with carcinoma: 5 colorectal and 1 with a gynecologic primary of unknown type. Colonoscopy and endoscopy were unremarkable. Positron emission and computed tomography revealed a 3 cm anterior dome bladder mass without additional extrauterine disease or uterine connection. She underwent partial cystectomy, laparoscopic hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy. The uterus demonstrated a dedifferentiated endometrioid adenocarcinoma, immunohistochemically positive for vimentin, ER, CK7, MSH2, MSH6, and p53 (focally) and negative for CEA, CDX2, CK20, ß-catenin, MLH1, and PMS2. The bladder demonstrated a well-differentiated, enteric-type adenocarcinoma without muscularis propria invasion, positive for CEA, CDX2, CK20, p53, MSH2, and MSH6 and negative for vimentin, ER, CK7, MLH1, and PMS2. Eleven nodes were negative for carcinoma. The morphologic, immunohistochemical, and clinical findings support synchronous bladder adenocarcinoma, enteric type, and uterine dedifferentiated endometrioid adenocarcinoma, in a patient with Lynch syndrome.

Coexistent Isolated Tumor Cell Clusters of Infiltrating Lobular Carcinoma and Benign Glandular Inclusions of Müllerian (Endosalpingiosis) Type in an Axillary Sentinel Node: Case Report and Review of the Literature.

The presence of benign epithelial inclusions in axillary lymph nodes coexistant with breast disease is a rare event; however, their presence makes the assessment of nodal disease diagnostically challenging. Broadly, these inclusions can be classified as glandular (müllerian type or nonmüllerian type), mixed glandular-squamous, and squamous. Among these the presence of benign müllerian-type glandular inclusions with concurrent breast parenchymal disease is an exceedingly rare event, with 10 previous cases reported in the literature, 2 coexisting with infiltrating ductal-type mammary carcinoma in axillary lymph nodes. Here, we report the first case of coexistent invasive lobular carcinoma and endosalpingiosis in an axillary lymph node.

Extra-lysosomal localization of arylsulfatase B in human colonic epithelium.

The enzyme arylsulfatase B (N-acetylgalactosamine-4-sulfatase; ARSB; ASB) removes 4-sulfate groups from the sulfated glycosaminoglycans (sGAG) chondroitin-4-sulfate (C4S) and dermatan sulfate (DS). Inborn deficiency of ARSB leads to the lysosomal storage disease mucopolysaccharidosis VI, characterized by accumulation of sGAG in vital organs, disruption of normal physiological processes, severe morbidity, and premature death. Recent published work demonstrated extra-lysosomal localization with nuclear and cell membrane ARSB observed in bronchial and colonic epithelial cells, cerebrovascular cells, and hepatic cells. In this report, the authors present ARSB immunostaining in a colonic microarray and show differences in distribution, intensity, and pattern of ARSB staining among normal colon, adenomas, and adenocarcinomas. Distinctive, intense luminal membrane staining was present in the normal epithelial cells but reduced in the malignancies and less in the grade 3 than in the grade 1 adenocarcinomas. In the normal cores, a distinctive pattern of intense cytoplasmic positivity at the luminal surface was followed by reduced staining deeper in the crypts. ARSB enzymatic activity was significantly greater in normal than in malignant tissue. These study findings affirm extra-lysosomal localization of ARSB and suggest that altered ARSB immunostaining and reduced activity may be useful indicators of malignant transformation in human colonic tissue.