Life-threatening gastrointestinal haemorrhage in Von Recklinghausen's disease.

Neurofibromatosis Type I (NF-1), also known as Von Recklinghausen's disease, is a common disorder, but gastrointestinal manifestations are rare and can be associated with severe complications and malignancy. We describe a case of multiple intestinal tumours, which presented as major per-rectal bleeding and was diagnosed by laparotomy. Presenting symptoms of this condition are usually non-specific, but the risk of malignancy and perforation should allow for a high index of suspicion in patients with NF-1 presenting with gastrointestinal symptoms. We present this case as a reminder that blood loss from the bowel in Von Recklinghausen's disease may be life-threatening, requiring immediate surgery to control haemorrhage.

A randomized trial of two doses of cyclophosphamide with etoposide and G-CSF for mobilization of peripheral blood stem cells in 318 patients with stage II-III breast cancer.

The purpose of this study was to develop a less toxic outpatient chemotherapy regimen for mobilizing peripheral blood stem cells (PBSC). Three hundred eighteen patients with newly diagnosed stage II-III breast cancer who had received conventional dose adjuvant chemotherapy were randomized to receive intermediate-dose cyclophosphamide (2 g/m2), etoposide (600 mg/m2), and granulocyte colony-stimulating factor (G-CSF) 6 micrograms/kg/day (ID-Cy, n = 162) or high-dose cyclophosphamide (4 g/m2) and the same doses of etoposide and G-CSF (HD-Cy, n = 156) followed by collection of PBSC. Three hundred seventeen of 318 patients had apheresis performed, and 315 received high-dose chemotherapy (HDC) followed by PBSC support. The median numbers of CD34+ cells collected in a median of two apheresis following ID-Cy and HD-Cy were 19.9 and 22.2 x 10(6)/kg, respectively (p = 0.04). The fractions of patients achieving CD34+ cell doses > or = 2.5 or > or = 5.0 x 10(6)/kg were not different between the two regimens. More patients receiving HD-Cy had grade 3-4 nausea (p = 0.001), vomiting (p = 0.03), and mucositis (p = 0.04). The fractions of patients having a neutrophil nadir < 0.5 x 10(9)/L following ID-Cy and HD-Cy were 0.83 and 0.95, respectively (p = < 0.001). The fractions of patients having a platelet nadir < 25 x 10(9)/L following ID-Cy and HD-Cy were 0.13 and 0.51, respectively (p = < 0.001). More patients in the HD-Cy group received platelet (p < 0.001) and red blood cell (p < 0.001) transfusions and were admitted to the hospital more frequently (p = 0.03) than patients receiving ID-Cy. Three hundred fifteen patients received HDC followed by infusion of PBSC. There were no significant differences in the incidence of transplant-related death or early survival between patients receiving ID-Cy or HD-Cy followed by HDC. It was concluded that a regimen of Cy 2 g/m2 with etoposide and G-CSF was effective for mobilization of PBSC with low morbidity and resource utilization in patients with limited prior chemotherapy exposure.

Familial autonomic visceral myopathy with degeneration of muscularis mucosae.

An extended family with chronic intestinal pseudo-obstruction which affected 11 of 54 members was studied. Patients presented with recurrent intestinal obstruction in childhood or adolescence: eight of the 11 died before the age of 30. Pedigree analysis showed four consanguineous marriages. The patients were all in the fifth generation and had established an autosomal recessive mode of inheritance. Histological, immunocytochemical, and electron microscopic studies were performed on a colectomy specimen from a surviving affected family member. Familial visceral myopathy was diagnosed--characterised by degeneration and collagenous replacement of both layers of the muscularis propria and the muscularis mucosae.

Mice transgenic for a vasopressin-SV40 hybrid oncogene develop tumors of the endocrine pancreas and the anterior pituitary. A possible model for human multiple endocrine neoplasia type 1.

The authors have used transgenic mice to study the activity of a hybrid oncogene made up of 1.25 kb of 5' upstream sequences, derived from the bovine vasopressin gene, promoting the expression of the large T-antigen coding sequences of the early region of simian virus 40. Rather than promoting tumorigenesis in vasopressinergic cells of the hypothalamus, expression and activity of the hybrid oncogene, and consequent tumor formation, were confined to insulin-producing beta cells of the endocrine pancreas and to cells in the anterior pituitary. These observations suggest that the specificity of vasopressin gene expression normally results from an interaction between several regulatory elements, some of which are absent from the hybrid oncogene. The possible relationship between the endocrine tumor syndrome found in the vasopressin-SV40 transgenic mice and familial human multiple endocrine neoplasia is discussed.

Demonstration of Epstein-Barr virus in immunoblastic sarcoma of B-cells arising in a child with primary immunodeficiency disease.

The subject of this investigation was an 11-month-old infant girl who presented with a pathological fracture of the right femur due to a metastasis from an abdominal immunoblastic sarcoma. Her past history included recurrent, intractable bacterial and fungal infections. Investigations of her immune status revealed low numbers of T-lymphocytes, a reversed T-helper (TH)/T-suppressor (TS) cell ratio, no response of her peripheral blood lymphocytes to pokeweed mitogen, phytohemagglutinin, concanavalin A, and Candida albicans, and an inability of her cells to react in a mixed lymphocyte culture. Serum levels of IgG, IgM, and IgA were all below normal. No thymic shadow was visible on the chest radiograph. There was no evidence of adenosine deaminase or nucleoside phosphorylase deficiencies. The tumor cells exhibited both surface IgM and IgG, and many of the cells contained large amounts of cytoplasmic IgM. Light chain specificity was restricted to lambda chain for both surface and cytoplasmic immunoglobulin. Ultrastructural study of the tumor cells revealed the presence of both intranuclear and cytoplasmic virions in roughly 1% of the tumor cells. These viral particles strongly resembled herpes viruses. DNA-hybridization studies on the neoplasm revealed the presence of 7-10 genome equivalents of Epstein-Barr virus-DNA per tumor cell.

Congenital ependymoblastoma presenting as a sacrococcygeal mass in a newborn: an immunohistochemical, light and electron microscopic study.

We describe a case of congenital ependymoblastoma presenting as a subcutaneous mass in the sacrococcygeal area of a newborn male. The tumor was composed of primitive cells disposed in compact sheets and cords and exhibiting focal ependymal differentiation. No other line of cellular differentiation was identified by either immunohistochemistry or ultrastructural study. Elevated serum alpha-fetoprotein was found, which decreased following surgical extirpation of the tumor. We propose that this tumor had its origin in the ependymal medullary vestige, similar to other sacrococcygeal ependymomas.

Metastatic melanoma of the gallbladder: a case report and review of the literature.

A single case of symptomatic metastatic melanoma to the gallbladder, with roentgenographic findings of gallbladder disease, is presented. Review of the 12 previously reported cases of symptomatic metastatic biliary melanoma and of those reports of "primary" melanoma of the gallbladder reveals marked similarity between the two groups, with regard to relative size, pathologic description, number, and location of lesions. This, together with the finding of "junctional activity" in our case, leads us to believe that most if not all melanomas present in the gallbladder are metastatic deposits from a known, undetected, or regressed primary locus elsewhere. Surgical removal, even in the presence of disseminated disease, is a worthwhile palliative procedure.

Nonsecretory parathyroid carcinoma of the mediastinum. Light microscopic, immunocytochemical, and ultrastructural features of a case, and review of the literature.

Nonsecretory parathyroid carcinoma is rare, particularly in extracervical sites. The authors present a case of a 51-year-old man with a large mediastinal mass that was found on a chest x-ray. Light and electron microscopy and immunohistochemical analysis of the resected tumor disclosed findings consistent with parathyroid carcinoma. Clinical and laboratory evaluations failed to reveal evidence of hyperparathyroidism. The nonsecretory state of the tumor was further supported by immunoreactivity for parathormone in tissue sections and, at the same time, normal levels of this peptide in serum. Partial shrinkage of the mediastinal mass occurred after 11 months of combined chemotherapy, with subjective improvement. A literature review of both secretory and nonsecretory parathyroid carcinomas was undertaken, revealing similar clinical features with regard to mean age, age range, and sex incidence among both groups.

Toxic shock syndrome following septoplasty and partial turbinectomy.

A rare case of toxic shock syndrome developing after an elective septoplasty and partial turbinectomy is reported. The sterile vaseline gauze packing acting as a "nasal tampon" is postulated as the mechanism of insult. The symptomatology, investigation and management of this case are discussed. Early recognition and appropriate treatment may avert the significant morbidity associated with this condition.

Primary amyloidosis of renal pelvis with duplicate collecting system.

A case of primary amyloidosis localized to the inferior renal pelvis of a kidney with a duplex collecting system is described. The onset of gross hematuria and mild flank pain necessitated investigations which yielded a clinical impression of tumor within the lower pelvis of a duplex collecting system. At laparotomy a grossly hemorrhagic-appearing mass in the lower pelvis was noted and a left ureteronephrectomy was undertaken. Histologic examination of the surgical specimen revealed amyloid deposition within the inferior pelvis, the corresponding distal portions of the papillae, and the most proximal ureter. Amyloid was not present elsewhere within either the renal parenchyma or the superior collecting system.

Gliosarcoma with cranial penetration and extension to the maxillary sinus.

A 70 year old woman underwent an anterior rightsided temporal lobectomy for a mixed glioblastoma-fibrosarcoma. Six months later, she presented with rightsided zygomatic and maxillary swellings, associated with rightsided ptosis, chemosis, and nerve palsies of the III, IV, VI, and VII cranial nerves. A computerized scan (CT) of the head revealed tumor erosion of the skull base of the right middle fossa with extension into the maxillary sinus. This was confirmed at surgery. Pathologic examination revealed a predominantly small cell anaplastic glioblastoma associated with sarcoma elements, similar to the original intracranial tumor. This case documents a rare and atypical behavior of malignant glial tumors.

Cerebral amyloid angiopathy associated with giant cell arteritis: a case report.

A case of cerebral amyloid angiopathy associated with granulomatous arteritis is presented with description of the microscopic, immunocytochemical and ultrastructural features. The amyloid proved to be of the AL-type, with failure to show reactivity with anti-AA, anti-prealbumin and anti-albumin. Antisera against SAP and IgG (AF) did show reactivity. Hence the immunologic characteristics of this amyloid differ from those of other known conditions and may therefore represent a new form of amyloid. The role of granulomatous arteritis in this case remains speculative.