A man in his twenties with fever and severe abdominal pain below the right costal margin.

Background: Eosinophilic granulomatosis with polyangiitis (EGPA) is a multisystem disorder characterised by chronic rhinosinusitis, asthma, and pronounced peripheral blood eosinophilia. The most commonly involved organ is the lung. However, EGPA can affect any organ system, including the cardiovascular, gastrointestinal, renal, and central nervous systems.

Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas.

The nuclease Artemis is essential for the development of T-cell and B-cell receptors and repair of DNA double-strand breaks, and a loss of expression or function will lead to a radiosensitive severe combined immunodeficiency with no functional T-cells or B-cells (T-B-SCID). Hypomorphic mutations in the gene can lead to a functional, but reduced, T-cell and B-cell repertoire with a more indolent clinical course called "leaky" SCID. Here, we present the case of a young man who had increasingly aggressive lymphoproliferative skin lesions from 2 years of age which developed into multiple EBV+ B-cell lymphomas, where a hypomorphic mutation in the gene was found in a diagnostic race against time using whole exome sequencing.

Two Hospitalizations and One Death After Exposure to Ortho-Fluorofentanyl.

Two young males were hospitalized with miosis and respiratory dysfunction after exposure to a white powder obtained from a foreign source by mail. A few days later, one of the males was found dead at his home. A serum sample from one of the hospitalized patients and a blood sample from the deceased contained ortho-fluorofentanyl in concentrations of 2.

BRAF V600E mutation in early-stage multiple myeloma: good response to broad acting drugs and no relation to prognosis.

In this study, we analyzed the prevalence and clone size of BRAF V600E mutation in 209 patients with multiple myeloma and related the results to clinical phenotype, response and survival. Biopsies were screened for BRAF V600E by allele-specific real-time PCR (AS-PCR). Positive results were confirmed by immunohistochemistry, Sanger sequencing and, in three patients from whom we had stored purified myeloma cells, whole-exome sequencing.

The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.

Background: Using immunohistochemistry (IHC) to select cases for mismatch repair (MMR) genetic testing, we failed to identify a large kindred with the deleterious PMS2 mutation c.989-1G > T. The purpose of the study was to examine the sensitivity of IHC and microsatellite instability-analysis (MSI) to identify carriers of the mutation, and to estimate its penetrance and expressions.

Symptomatic primary (Al) amyloidosis of the stomach and duodenum.

Primary (AL) amyloidosis of the gastrointestinal tract is relatively rare, and symptomatic amyloidosis of the stomach is even more seldom. We present the case of a patient who was referred to upper endoscopy because of weight loss, nausea, and vomiting. Large areas of intramucosal hemorrhages were seen, and biopsies resulted in profuse bleeding stopped with endoscopic clips.

High dose chemotherapy with autologous stem cell support for patients with histologically transformed B-cell non-Hodgkin lymphomas. A Norwegian multi centre phase II study.

We present a prospective phase II study of patients with relapse after chemotherapy showing transformation of follicular lymphoma to diffuse large B-cell lymphoma, performed before rituximab was included in standard treatment. Patients in complete (CR) or partial remission (PR) after salvage chemotherapy were eligible for high-dose chemotherapy with autologous stem cell support (HDT). Forty-seven patients from five Norwegian centres were included, of whom 30 (63%) received HDT.

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

Background: Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families for DNA testing. The authors have previously reported that clinical criteria are not sensitive enough to identify MMR mutation carriers among incident colorectal cancer cases.

Objective: To describe the sensitivity of the criteria when applied to families with a demonstrated MMR mutation.

Overexpression and involvement in migration by the metastasis-associated phosphatase PRL-3 in human myeloma cells.

Multiple myeloma (MM) is characterized by accumulation and dissemination of malignant plasma cells (PCs) in the bone marrow (BM). Gene expression profiling of 2 MM cell lines (OH-2 and IH-1) indicated that expression of PRL-3, a metastasis-associated tyrosine phosphatase, was induced by several mitogenic cytokines. Cytokine-driven PRL-3 expression could be shown in several myeloma cell lines at both the mRNA and protein levels.

Monoclonal B-cell hyperplasia and leukocyte imbalance precede development of B-cell malignancies in uracil-DNA glycosylase deficient mice.

Ung-deficient mice have reduced class switch recombination, skewed somatic hypermutation, lymphatic hyperplasia and a 22-fold increased risk of developing B-cell lymphomas. We find that lymphomas are of follicular (FL) and diffuse large B-cell type (DLBCL). All FLs and 75% of the DLBCLs were monoclonal while 25% were biclonal.

[New diagnostic methods in non-Hodgkin lymphoma].

We describe five patients with non-Hodgkin's lymphoma (NHL) in which immunohistochemical investigation (IH) and polymerase chain reaction (PCR) were important for diagnosis and choice of treatment. One patient got the diagnosis follicular NHL after PCR showed t(14;18) in a fine needle biopsy from a tumour in the abdomen. Two small and partly traumatized biopsies from two patients were diagnosed as low grade NHL of B-cell type after PCR showed monoclonality for B-lymphocytes and IH showed B-cell phenotype and low proliferation rate.

[Telepathology in Mid-Norway].

Telepathology can provide frozen section service to hospitals without a pathology service of their own. Using a dynamic-robotic system with 6 ISDN B-channels (Telemed A200, AM Elektronikk A/S, Oslo, Norway), the pathologists at the University Hospital in Trondheim, Norway during a three-year period from 1995 successfully performed 116 diagnostic sessions for two rural Norwegian hospitals. In 90% of the cases a diagnosis was provided.

Marked osteoblastopenia and reduced bone formation in a model of multiple myeloma bone disease in severe combined immunodeficiency mice.

We report on an in vivo model of human myeloma producing bone disease in irradiated severe combined immunodeficiency disease mice using the human myeloma cell line JJN-3 and its subline JJN-3 T1. The cell lines are not Epstein-Barr virus transformed and produce large amounts of hepatocyte growth factor (HGF). Mice had radiological signs of osteolysis and mild hypercalcemia.

Diver's hand: a skin disorder common in occupational saturation diving.

Saturation divers regularly inspect North Sea installations, working at depth for periods of 12-16 days. Diver's hand is a particular problem in saturation diving, and there is no effective protection or treatment available. This paper presents the occurrence of diver's hand and describes the disease in clinical and epidemiological terms.

[Low grade non-Hodgkin lymphoma of B-cell type. What is the benefit of polymerase chain reaction and immunohistochemical examination?].

Subclassification of malignant non-Hodgkin's lymphoma is important to be able to choose the right treatment. However, this subclassification can be difficult, and immunohistochemistry and polymerase chain reaction are used to improve diagnostic safety. We have investigated the value of immunohistochemistry and polymerase chain reaction in the subclassification of 49 low grade non-Hodgkin's lymphomas of B-cell type.

Identification of genetic determinants responsible for the rapid immunosuppressive activity and the low leukemogenic potential of a variant of Friend leukemia virus, FIS-2.

An immunosuppressive variant of Friend murine leukemia virus (F-MuLV), FIS-2, induces suppression of the primary antibody response against sheep erythrocytes (SRBC) in adult NMRI mice more efficiently than the prototype F-MuLV clone 57 (cl.57). It is, however, less potent than F-MuLV cl.

[Mycosis fungoides. Early diagnosis and evaluation of treatment by polymerase chain reaction].

We describe the case of a 60-year-old man who, after seven years with eczematous changes, developed erythrodermia, clinically suspect of mycosis fungoides. T-cell receptor gamma (TCR-gamma) gene rearrangements were retrospectively investigated by polymerase chain reaction (PCR). DNA from a formalin-fixed, paraffin-embedded punch biopsy showed a monoclonal pattern compatible with mycosis fungoides two years before the diagnosis was confirmed histopathologically.