Concurrent angiomyolipoma and renal cell neoplasia: a study of 36 cases.

Little is known about the association of angiomyolipoma and adult renal-cell neoplasia. We studied the clinicopathologic features of 36 patients with concurrent angiomyolipoma and renal-cell neoplasia from the consultation and surgical pathology files of nine institutions. HMB-45 immunoreactivity was analyzed in both neoplasms. Twenty-five sporadic cases of patients with angiomyolipoma and renal-cell neoplasia and 11 cases of patients with tuberous sclerosis, as defined by Gomez' criteria, had mean ages of 59 and 53 years, respectively, and female-male ratios of 2:1 and 5:1, respectively. The mean size of the angiomyolipomas was 1 cm in the sporadic cases and 3 cm in those patients with tuberous sclerosis (medians: 0.5 and 3 cm, respectively, P =.002). The mean sizes of the renal-cell neoplasms were 5 cm in sporadic cases and 6 cm in patients with tuberous sclerosis (medians: 4 and 5 cm, respectively; P =.88). In both clinical settings, angiomyolipoma was more commonly the incidental tumor. Clear-cell (conventional) renal-cell carcinoma was the most common renal-cell neoplasm in both groups of patients, accounting for approximately two thirds of the tumors. In patients with tuberous sclerosis, 27% of renal-cell neoplasms were oncocytomas, compared with 8% in sporadic cases (P =.15). Papillary neoplasia, chromophobe, and collecting-duct renal-cell carcinoma were found only in sporadic cases. All of the 22 renal-cell neoplasms studied were negative for HMB-45, whereas all 25 angiomyolipomas studied were positive.

Intestinal disaccharidase deficiency without villous atrophy may represent early celiac disease.

BACKGROUND: Intestinal disaccharidase activities are decreased in untreated celiac disease and also in other conditions without villous atrophy. Of 908 patients examined for suspected malabsorption, 37 (4.1%) had generalized disaccharidase deficiency without villous atrophy. The aim was to determine if generalized disaccharidase deficiency without villous atrophy represented latent celiac disease. METHODS: Case notes and histology of the 37 patients were reviewed. History and blood investigations including antigliadin and endomysial antibodies were checked. Where celiac disease was suspected, endoscopic duodenal biopsies for histology and disaccharidase estimation were repeated. RESULTS: Of the initial 37 patients, 6 patients had had repeat endoscopic biopsies; one having celiac disease. A further 18 patients were reviewed. The remainder declined further investigation. Eight had repeat endoscopic duodenal biopsies; one had celiac disease. Two with positive celiac serology also had enteroscopy with jejunal biopsies; both had celiac disease. CONCLUSIONS: At least 11% of patients with generalized disaccharidase deficiency without villous atrophy develop celiac disease. Enteroscopic biopsies from distal duodenum and proximal jejunum should be considered as the next investigation if endomysial or antigliadin antibodies are positive.

Intestinal trehalase activity in a UK population: establishing a normal range and the effect of disease.

Trehalose is a disaccharide, the main dietary source being mushrooms. It has been approved as an additive in the preparation of dried food. Isolated intestinal trehalase deficiency is found in 8% of Greenlanders, but is rare elsewhere. The normal range of trehalase activity and the incidence of isolated trehalase deficiency in the UK have not been reported. Patients (n 400) were investigated for suspected malabsorption. Endoscopic distal duodenal biopsies were taken for histological assessment and maltase, sucrase, lactase and trehalase estimation. Disaccharidase activities were determined by Dahlqvist's technique (Dahlqvist, 1968). Most patients (n 369) had normal duodenal histology. In these, square root transformation of trehalase activity produced a normal distribution. The normal range (mean +/- 2 SD) was 4.79-37.12 U/g protein. One patient had an isolated borderline trehalase deficiency. The thirty-one patients with villous atrophy had significantly reduced disaccharidase activities. With ingestion of a gluten-free diet, maltase, sucrase and trehalase activities recovered to normal in most patients, whereas lactase activity did not. The normal range and very low incidence of isolated enzyme deficiency is comparable with that described in populations from the USA and mainland Europe. Activity is significantly reduced in untreated coeliac disease and recovers with treatment with a gluten-free diet. There is no place for routine determination of trehalase activity in the UK population and there should be no concern over the introduction of trehalose-containing dried foods.

Chronic tubulo-interstitial nephropathy in children with cranioectodermal dysplasia.

We report two pairs of siblings with the syndrome cranioectodermal dysplasia who have subsequently developed chronic renal failure secondary to tubulo-interstitial nephropathy. Renal disease has not been described before in this rare syndrome but has now occurred in four of the seven reported cases. Children with cranioectodermal dysplasia appear to be at significant risk of developing chronic renal failure. This is important information for clinicians looking after such children, and their families, when considering the long-term prognosis and management.

Renal cell carcinoma presenting as nephrotic syndrome.

A 64-year-old woman presenting with a history of increasing oedema was found to have nephrotic syndrome with a 24-hour urinary protein excretion of 20.7 g and renal impairment with an initial serum creatinine level of 197 mumol/l (2.16 mg/dl). A renal tumour was demonstrated by ultrasound scanning and subsequent nephrectomy revealed a renal carcinoma extending as far as the resected end of the renal vein. Histology of the kidney not involved by the tumour showed normal light microscopic appearances, with electron microscopy demonstrating foot process fusion, suggesting a diagnosis of minimal-change nephropathy. Nephrotic syndrome is a rare complication of renal cell carcinomas, and it is particularly uncommon for minimal change nephropathy to be associated with solid tumours.

The use of DNA typing to clarify the origin of metastatic carcinoma after renal transplantation. A clinical and medico-legal problem.

We present an unusual diagnostic problem in a transplant patient whose failed renal transplant was found to contain undifferentiated carcinoma. When the patient later developed metastatic renal carcinoma, he began legal proceedings against the hospital for the transmission of a tumour with his renal transplant. He subsequently died of carcinomatosis. Post-mortem examination revealed acquired renal cystic disease in his native kidneys with a 1-cm adenocarcinoma arising from the wall of one of the cysts. We used DNA typing to determine the origin of the metastatic tumour and resolve the medico-legal problem.

Granulomatous hidradenitis suppurativa and cutaneous Crohn's disease.

Three patients with concurrent hidradenitis suppurativa and Crohn's disease are presented. The notable histological feature in each hidradenitis resection was the presence of numerous discrete epithelioid granulomas in areas of non-inflamed dermis. The purpose of the study was to determine the incidence of epithelioid granulomas in 101 hidradenitis patients and their significance in relation to systemic granulomatous disease. Discrete epithelioid granulomas were identified in 8% of the resections (10 patients). One patient had Crohn's disease and one other pulmonary sarcoidosis. Seven patients with granulomatous hidradenitis neither had nor developed any other disease during the 3-year follow-up period. Clinical review identified a further two patients with Crohn's disease but associated with non-granulomatous changes in the skin resections. Foreign body type granulomas were identified in 25% of the resections adjacent to ruptured hair follicles, sinus tracts or nearby degenerate sweat glands. The study shows that, although foreign body type granulomas are a common finding in hidradenitis, the presence of discrete epithelioid granulomas in the dermis away from the site of active inflammation is unusual and should alert the pathologist to the possibility of systemic granulomatous disease such as Crohn's disease or sarcoidosis.

Metal deposition in post-surgical granulomas of the urinary tract.

Fourteen cases of post-surgical granulomatous inflammation of the urinary tract were studied to investigate the possible deposition in the tissues of metals derived from the diathermy instruments used. The granulomas showed central necrosis, palisaded histiocytes and giant cells. On electronmicroscopy both amorphous material and electrondense particles were seen in the granulomas. The former appeared to be necrotic tissue. The particles were metallic in nature. Energy dispersive analysis of X-rays showed the presence of tungsten, iron, copper, nickel, chromium, zinc and vanadium. Tungsten particles were always pure. Other single particles contained two or more of the remaining elements, indicating the presence of alloy metals. Analysis of the diathermy instruments showed the cutting loops to be pure tungsten and the 'rollerballs' to be nickel silver containing copper, zinc, nickel, manganese and iron. Both the loops and balls are supported on stainless steel wires containing iron, chromium, nickel, manganese, molybdenum, copper and vanadium. It is proposed that metallic fragments from the instruments were deposited in the tissues during the surgical procedures and elicited an immunological reaction with granuloma formation. Tungsten is probably inert but nickel, chromium, copper and zinc are immunogenic. Under certain circumstances both nickel and chromium may also be carcinogenic.

Interpretation of biopsies of "normal" urothelium in patients with superficial bladder cancer. MRC Superficial Bladder Cancer Sub Group.

In the course of a Medical Research Council trial of intravesical chemotherapy, biopsies were taken from apparently normal bladder urothelium near to newly diagnosed superficial bladder cancers in 417 patients. Differences were noted in the rates at which histological features were described in different centres. To gain more information about the reproducibility of the pathological findings, a group of 6 pathologists (5 from the UK and 1 from the USA), all having a special interest in urological pathology, were asked to examine a representative sample of 92 slides. They were then asked to re-examine 30 of them after an interval of at least 6 months. At first examination and at re-examination the slides were assessed using a standard proforma. However, the definitions of the categories were left unspecified for the pathologists to use their own criteria. The 5 UK pathologists then met to establish a consensus view of each slide. The results indicated that: (1) The reporting of non-dysplastic changes varied so much between pathologists as to render it of little value to clinical practice. (2) There were wide variations between different pathologists in the reported incidence of dysplastic change. (3) On a second review the pathologists reproduced their own assessment on only 62% of occasions. (4) Even after discussion between pathologists there was no consensus on the diagnosis of mild as opposed to moderate dysplasia. Consensus was reached on all biopsies which showed either severe dysplasia or carcinoma in situ. (5) In adopting a policy of taking urothelial biopsies, urologists should be aware of the imprecision and lack of reproducibility in the interpretation of such biopsies. (6) Biopsies of cystoscopically normal urothelium may not be a useful guide in defining therapy.

Small bowel biopsy for disaccharidase levels: evidence that endoscopic forceps biopsy can replace the Crosby capsule.

Lactase, sucrase and maltase activities in endoscopic biopsies from the second part of the duodenum were compared to those in Crosby capsule biopsies from the proximal jejunum. In patients with villous atrophy disaccharidase activities were reduced compared with histologically normal mucosa in the duodenum and jejunum. Disaccharidase activities were significantly lower in the duodenum than in the proximal jejunum of patients with histologically normal mucosa and in those with partial villous atrophy but not significantly different for total villous atrophy patients. Primary and secondary disaccharidase deficiencies can be identified in biopsies from the duodenum. Duodenal biopsy is a valid alternative to jejunal biopsy for the diagnosis of disaccharidase deficiency.

Mucinous biliary papillomatosis: a tumour in need of wider recognition.

We report three cases of mucinous biliary papillomatosis occurring high in the extrahepatic bile ducts. Histological assessment of malignancy is difficult and subjective because there is no unequivocal evidence of stromal invasion. Using anti-laminin antibodies to assess the basement membranes of these tumours we have found a large number of discontinuities in the epithelial basement membrane. On this basis we consider that mucinous biliary papillomatosis should be considered a low-grade malignancy. This would correlate with the natural history of these tumours, namely recurrence but with no widespread metastasis, death resulting from liver failure usually with 5-6 years of presentation.

Serial prostatic histology. A valid marker of response to hormone treatment.

Serial transrectal needle biopsies were taken from 146 patients (657 specimens) with advanced prostatic cancer (T3/T4, M1/MO) admitted to a trial of two forms of oestrogen therapy. Histological grading by Gleason and Mostofi techniques on the initial biopsy showed no correlation either with extent of disease or its eventual outcome on treatment. Change in grade was dissociated from the response of bone metastases to hormone treatment and did not appear to influence survival. However, the prognosis of 16 patients showing clearance of tumour from their serial biopsies was generally good.

Isolated arteritis of the epididymis.

The clinical, histological, and immunohistochemical features of two cases of apparently isolated arteritis of the epididymis are presented. The aetiology and pathogenesis of the condition are discussed. Immunoglobulin and complement were shown in the acute arterial lesions, but this is not conclusive evidence that isolated arteritis is either an immune complex disease or a forme fruste of polyarteritis nodosa.

Congenital absence of the vasa deferentia presenting with infertility.

Congenital absence of both vasa deferentia is not an infrequent cause of sterility. Between April 1975 and December 1981, 11 men out of a total of 749 presenting with infertility were diagnosed as having congenital absence of both vasa deferentia. Subsequent clinical investigations showed that FSH levels were within the normal range (2-10 mIU/ml), blood karyotype (XY) was normal, and testicular histology demonstrated normal spermatogenesis. Seminal volume was markedly reduced in nine patients (range 0.25-1.0 ml). In three out of four patients tested, seminal fructose was found to be completely absent. Of the 11 patients, eight subsequently had exploratory surgery. In four men, the whole epididymis was present on both sides, while the other four had varying parts of one or both epididymides absent. In six of the eight patients explored surgically, no trace of the vasa deferentia could be found, while one other patient had thin fibrous cords in the anatomical site of the vasa deferentia. A possible cause for the abnormality and the importance of seminal fructose estimation are discussed.