Intraductal carcinoma of the prostate and high-grade prostatic intraepithelial neoplasia (PIN) have markedly different implications for patient care but can be difficult to distinguish in needle biopsies. In radical prostatectomies, we demonstrated that PTEN and ERG immunostaining may be helpful to resolve this differential diagnosis. Here, we tested whether these markers are diagnostically useful in the needle biopsy setting. Separate or combined immunostains were applied to biopsies containing morphologically identified intraductal carcinoma, PIN, or borderline intraductal proliferations more concerning than PIN but falling short of morphologic criteria for intraductal carcinoma. Intraductal carcinoma occurring with concurrent invasive tumor showed the highest rate of PTEN loss, with 76% (38/50) lacking PTEN and 58% (29/50) expressing ERG. Of biopsies containing isolated intraductal carcinoma, 61% (20/33) showed PTEN loss and 30% (10/33) expressed ERG. Of the borderline intraductal proliferations, 52% (11/21) showed PTEN loss and 27% (4/15) expressed ERG. Of the borderline cases with PTEN loss, 64% (7/11) had carcinoma in a subsequent needle biopsy specimen, compared with 50% (5/10) of PTEN-intact cases. In contrast, none of the PIN cases showed PTEN loss or ERG expression (0/19). On needle biopsy, PTEN loss is common in morphologically identified intraductal carcinoma yet is very rare in high-grade PIN. Borderline intraductal proliferations, especially those with PTEN loss, have a high rate of carcinoma on resampling. If confirmed in larger prospective studies, these results suggest that PTEN and ERG immunostaining may provide a useful ancillary assay to distinguish intraductal carcinoma from high-grade PIN in this setting.

Stromal tumors of uncertain malignant potential (STUMPs) are rare tumors characterized by an atypical, unique stromal proliferation of the prostate. Various stromal proliferations of STUMPs have been described; however, epithelial proliferations occurring within the STUMP have not been systematically described to date. We reviewed 89 cases of STUMP from our consultation service from 1990 to 2010. Nineteen cases without a glandular component were excluded. We next evaluated the glandular component of the remaining 70 cases of STUMP for glandular crowding and complexity, prostatic intraepithelial neoplasia (PIN), squamous metaplasia, urothelial metaplasia, basal cell hyperplasia, adenosis, and clear cell cribriform hyperplasia. In 58 cases (83%), the glandular component differed from glands on the same biopsy specimen uninvolved by STUMP. The most common abnormalities were glandular crowding in 35 of 70 (50%) and a very prominent basal cell layer in some glands in 32 of 70 (46%) cases. The next most frequent glandular variation from normal was prominent papillary infolding in 13 of 70 (19%) cases. Less-frequent epithelial changes within the STUMP were as follows: 10 of 70 (14%) showed cystically dilated glands; 7 of 10 (10%) had basal cell hyperplasia; 6 of 70 (9%) had urothelial metaplasia; 6 of 70 (9%) showed squamous metaplasia; 3 of 70 (4%) had cribriform hyperplasia; 3 of 70 (4%) had adenosis; and 1 case each showed high-grade PIN, low-grade PIN, and partial atrophy. The glandular component of STUMP was histologically normal in 12 (17%) cases. There was a tendency toward urothelial and squamous metaplasia in STUMPs with a phyllodes pattern, and a prominent basal cell layer in STUMPs with degenerative and cellular stroma. This is the first study to systematically describe the epithelial proliferations occurring in STUMP. This study suggests that, within STUMPs, there is epithelial-mesenchymal crosstalk, as has been described in benign prostate and in prostatic carcinogenesis. In unusual cases of STUMP, the epithelial proliferation may predominate to the extent that it can mask the diagnosis of STUMP.

OBJECTIVE To assess underdiagnosing Gleason pattern 5 on needle biopsy and discuss the potential consequences for patient management.MATERIAL AND METHODS We retrieved 300 consecutive prostate biopsy cases from the consultation files at The Johns Hopkins Hospital (JHH) from 2009-2010 in which we identified Gleason pattern 5. All of these cases were diagnosed by one of the authors and all were sent in as a final diagnosis for which the outside pathologist was not requesting consultation because of difficulty with the diagnosis. The Gleason grades assigned to these cases at our institution were compared with the grade rendered by the submitting pathologists from the outside institution.RESULTS In 146 (48.7%) of the cases, Gleason pattern 5 was not identified by the outside pathologists. Of the 146 cases, the outside Gleason score was <= 7 in 61 (20.3%) and 4 + 4 = 8 in 85 (28.4%). Even when the tumor was diagnosed at JHH as Gleason score 5 + 5 = 10, only 26 (41.3%) were diagnosed as the same by the outside pathologists; Gleason score 9 was graded in 27 (42.8%).CONCLUSION Considering the important prognostic and therapeutic implication of misdiagnosing Gleason pattern 5, efforts should be made by the pathology community to acknowledge this as a problem and improve on individual pathologists' accuracy by diverse medical education programs. In addition, urologists should not hesitate in sending biopsies with high-grade prostate cancer for expert genitourinary pathology second opinions. UROLOGY 79: 178 -181, 2012. (C) 2012 Elsevier Inc.

Sickle cell disease (SCD) is an autosomal recessive abnormality of the beta-globin chain of hemoglobin (Hb), resulting in poorly deformable sickled cells that cause microvascular occlusion and hemolytic anemia. The spleen is almost always affected by SCD, with microinfarcts within the first 36 months of life resulting in splenic atrophy. Acute liver disorders causing right-sided abdominal pain include acute vaso-occlusive crisis, liver infarction, and acute hepatic crisis. Chronic liver disease might be due to hemosiderosis and hepatitis and possibly to SCD itself if small, clinically silent microvascular occlusions occur chronically. Black pigment gallstones caused by elevated bilirubin excretion are common. Their small size permits them to travel into the common bile duct but cause only low-grade obstruction, so hyperbilirubinemia rather than bile duct dilatation is typical. Whether cholecystectomy should be done in asymptomatic individuals is controversial. The most common laboratory abnormality is an elevation of unconjugated bilirubin level. Bilirubin and lactate dehydrogenase levels correlate with one another, suggesting that chronic hemolysis and ineffective erythropoiesis, rather than liver disease, are the sources of hyperbilirubinemia. Abdominal pain is very common in SCD and is usually due to sickling, which resolves with supportive care. Computed tomography scans might be ordered for severe or unremitting pain. The liver typically shows sickled erythrocytes and Kupffer cell enlargement acutely and hemosiderosis chronically. The safety of liver biopsies has been questioned, particularly during acute sickling crisis. Treatments include blood transfusions, exchange transfusions, iron-chelating agents, hydroxyurea, and allogeneic stem-cell transplantation.

American Journal of Medical Genetics Part AVolume 152A, Issue 9 p. 2383-2386 Research Letter Microdeletion of 16p11.2 associated with endocardial fibroelastosis† Surasak Puvabanditsin, Corresponding Author Surasak Puvabanditsin [email protected] Department of Pediatrics, UMDNJ-RWJ Medical School, New Brunswick, New JerseyDepartment of Pediatrics, UMDNJ-RWJ Medical School, 1 Robert Wood Johnson Place, New Brunswick, NJ 08903.Search for more papers by this authorMichael S. Nagar, Michael S. Nagar Department of Pathology, Robert Wood Johnson Medical School, New Brunswick, New JerseySearch for more papers by this authorMeera Joshi, Meera Joshi Department of Pediatrics, UMDNJ-RWJ Medical School, New Brunswick, New JerseySearch for more papers by this authorGeorge Lambert, George Lambert Department of Pediatrics, UMDNJ-RWJ Medical School, New Brunswick, New JerseySearch for more papers by this authorEugene Garrow, Eugene Garrow Department of Surgery, SUNY Downstate Medical Center, Brooklyn, New YorkSearch for more papers by this authorErik Brandsma, Erik Brandsma Department of Pediatrics, UMDNJ-RWJ Medical School, New Brunswick, New JerseySearch for more papers by this author Surasak Puvabanditsin, Corresponding Author Surasak Puvabanditsin [email protected] Department of Pediatrics, UMDNJ-RWJ Medical School, New Brunswick, New JerseyDepartment of Pediatrics, UMDNJ-RWJ Medical School, 1 Robert Wood Johnson Place, New Brunswick, NJ 08903.Search for more papers by this authorMichael S. Nagar, Michael S. Nagar Department of Pathology, Robert Wood Johnson Medical School, New Brunswick, New JerseySearch for more papers by this authorMeera Joshi, Meera Joshi Department of Pediatrics, UMDNJ-RWJ Medical School, New Brunswick, New JerseySearch for more papers by this authorGeorge Lambert, George Lambert Department of Pediatrics, UMDNJ-RWJ Medical School, New Brunswick, New JerseySearch for more papers by this authorEugene Garrow, Eugene Garrow Department of Surgery, SUNY Downstate Medical Center, Brooklyn, New YorkSearch for more papers by this authorErik Brandsma, Erik Brandsma Department of Pediatrics, UMDNJ-RWJ Medical School, New Brunswick, New JerseySearch for more papers by this author First published: 03 August 2010 https://doi.org/10.1002/ajmg.a.33562Citations: 13 † How to Cite this Article: Puvabanditsin S, Nagar MS, Joshi M, Lambert G, Garrow E, Brandsma E. 2010. Microdeletion of 16p11.2 associated with endocardial fibroelastosis. Am J Med Genet Part A 152A:2383–2386. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG. 2007. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39: 1071–1073. Claude Veille J, Sivakoff M. 1988. 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Cytomegalovirus (CMV) prostatitis is very rare with only 1 report of biopsy-proven CMV prostatitis in the literature. The authors report 4 cases, 3 detected on needle biopsy and 1 detected on transurethral resection. Patients were 36, 41, 48, and 71 years old. All patients were immunosuppressed, including 1 with AIDS and 3 undergoing immunosuppressive therapy following organ transplantation. CMV inclusions were seen in secretory cells of the prostatic glands, endothelial cells of small vessels, and prostatic stromal cells associated with a dense lymphoid inflammation. Only very rarely is CMV prostatitis detected on clinical specimens, typically in immunosuppressed hosts undergoing immunosuppressive therapy following organ transplantation. Patients with CMV prostatitis may harbor multiple infections or have other serious medical conditions adversely affecting their prognosis.

Polyarteritis nodosa (PAN) is a necrotizing, focal segmental vasculitis that affects predominantly medium-sized arteries in many different organ systems. It is associated with hepatitis B virus (HBV) in about 7% of cases, a decline from about 30% before the mandatory testing of blood products and the widespread vaccination programs. HBV PAN is an early postinfectious process. The hepatitis is silent in most cases, with mild transaminase level increases in 50% of patients. Gastrointestinal involvement occurs in 14% to 65% of patients with PAN. Postprandial abdominal pain from ischemia is the most common symptom. When transmural ischemia develops, there may be necrosis of the bowel wall with perforation, associated with a poor prognosis. Liver involvement occurs in 16% to 56% of patients, although clinical manifestations related to liver disease are quite rare. Acalculous gangrenous cholecystitis may develop owing to arteritis involving the wall of the gallbladder. Microaneurysms on arteriography or computed tomography angiography are characteristic of PAN, but are seen in other conditions. Tissue biopsy may confirm the diagnosis, although involvement is segmental. Corticosteroids are used for non-HBV PAN with cyclophosphamide added for severe disease. For PAN related to HBV, a 2-week course of corticosteroids is begun, with plasma exchanges and an antiviral agent. Corticosteroids and cyclophosphamide have improved patient outcome so that the 1-year survival rate is now about 85%.

Amyloidosis is characterized by extracellular deposition of abnormal protein. There are six types: primary, secondary, hemodialysis-related, hereditary, senile, and localized. Primary (AL) amyloidosis is associated with monoclonal light chains in serum and/or urine with 15% of patients having multiple myeloma. Secondary (AA) amyloidosis is associated with inflammatory, infectious, and neoplastic diseases. The presentation is protean, including macroglossia, a dilated and atonic esophagus, gastric polyps or enlarged folds, and luminal narrowing or ulceration of the colon. Amyloid deposition in the gastrointestinal (GI) tract is greatest in the small intestine. The symptoms include diarrhea, steatorrhea, or constipation. Pseudo-obstruction carries a particularly grave prognosis, often not responding to promotility agents. Hepatic involvement is common, but the clinical manifestations are usually mild with hepatomegaly and an elevated alkaline phosphatase level. Biopsies to diagnose amyloidosis can be taken from the fat, kidney, intestine, or bone marrow. The safety of liver biopsies is controversial. With Congo Red stain, amyloid appears red in normal light and apple-green in polarized light. Treatment for AL amyloidosis is chemotherapy and stem cell transplantation; treatment for AA amyloidosis is control of the underlying disease. Amyloidosis should be considered in patients with proteinuria, cardiomyopathy, hepatomegaly (with mildly abnormal liver tests), peripheral and autonomic neuropathy, weight loss, and GI symptoms.

PURPOSE:We assessed the efficacy of extracorporeal shock wave lithotripsy for large (more than 10 mm) ureteral calculi with the unmodified Dornier HM3 lithotriptor. MATERIALS AND METHODS:A total of 96 consecutive patients with large ureteral stones were treated with shock wave lithotripsy using an unmodified HM3 lithotriptor. Patients, stone characteristics, preliminary treatment before shock wave lithotripsy, additional procedures after shock wave lithotripsy, complications and clinical outcomes were assessed. RESULTS:Between 2000 and 2003 a total of 96 patients (75 males, 21 females, mean age 51 years [range 16 to 81]) with large ureteral stones underwent shock wave lithotripsy. Average stone size was 14 mm (range 10 to 22), 90 stones were calcified, and 66 stones were located in the upper ureter, 20 in the mid ureter and 10 in the distal ureter. A total of 77 (80.2%) patients underwent a single shock wave lithotripsy session, 18 (18.7%) underwent 2 sessions and 1 (1.1%) patient underwent 3 sessions. The overall stone-free rate was 86.5% (83 patients). Complications occurred in 10 (10.4%) patients. Shock wave lithotripsy failed in 13 (13.5%) patients who were successfully treated with ureteroscopy. CONCLUSIONS:Our data show that shock wave lithotripsy for large ureteral stones along the entire ureter with the unmodified HM3 lithotriptor has a high success rate with minimal morbidity. We recommend it as first line treatment.