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F Joris

Publications and source records attributed to F Joris.

At least 19 recordsLinked to original sources
PubMed2001

Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis.

Germ-line mutations in the 5' half of the Adenomatous Polyposis Coli (APC) gene are found in about 80% of the patients affected with familial adenomatous polyposis (FAP). The vast majority of these are nonsense or frameshift mutations which result in the loss of the carboxyl terminus of the APC protein. Using an in vivo assay in yeast, we have identified pathogenic germ-line mutations in 26 of 32 (81%) unrelated Swiss families affected with FAP. Nine mutations were novel and eight families were shown to harbor two recurrent mutations. Correlations were attempted between the location of APC germ-line mutations and clinical manifestations of the disease.

Adenomatous Polyposis Coli↗
PubMed2000

Surgical management of epithelial ovarian cancer at community hospitals: A population-based study.

BACKGROUND AND OBJECTIVES: Accurate surgical staging and maximal tumor reduction are the basic management principles of epithelial ovarian cancer (EOC). The purpose of our study is to report on staging practices and the primary surgery of EOC in a region that has no tertiary oncological referral center and no surgical gynecological oncologist. METHODS: Between 1 January 1989 and 30 December 1995, the Valais Cancer Registry had registered 157 patients with ovarian cancer stage I-IV. Hospital case notes were reviewed retrospectively and patients who did not have a surgical abdominal exploration (n = 20), with borderline (n = 12) or non-epithelial tumors (n = 13), operated upon in other regions (n = 8) and without complete medical records (n = 2) were excluded. Therefore 102 patients were evaluated. RESULTS: The interventions have been performed in 7 regional hospitals and 1 private clinic by 24 obstetricians-gynecologists and 8 general surgeons. In early EOC, 9% random peritoneal biopsies and 3% retroperitoneal lymph node samplings have been performed. In advanced EOC, 40% of patients had total abdominal hysterectomy, bilateral salpingo-oophorectomy and omentectomy and 42% had cytoreductive surgery with a residual tumor of </=2 cm. CONCLUSIONS: The present study is a population-based study over a 7-year period within a region that has only community hospitals. Patients with early EOC had incomplete staging and patients with advanced EOC an insufficient rate of radical surgery. Women with a suspicion of ovarian cancer should be referred to centers with experienced tumor surgeons.

Adenocarcinoma, Mucinous↗
PubMed2000

How CA 125 is used in routine clinical practice.

The only role where the CA 125 test has proven utility is: (i) for monitoring ovarian cancer (OC); and (ii) for a preoperative test in patients with an ovarian mass. The aim of our study was to assess the clinical indications for CA 125 determinations in order to estimate the appropriateness of CA 125 use. During the period of 1 August 1993 through 31 December 1995 all CA 125 assays performed at the laboratory of the Institut Central des Hôpitaux Valaisans (ICHV) and the data of the patients receiving these tests were audited in order to identify the clinical indication for the test. We have considered as 'correct indication' a CA 125 test performed: (i) during follow-up monitoring of patients having an OC and; (ii) as a preoperative test of a suspect ovarian mass. 462 patients have received a total of 1057 CA 125 assays. 84 (18%) patients have received 537 (51%) tests for monitoring OC and 68 (15%) patients, 68 tests (6%) as a preoperative evaluation for an ovarian mass. 310/462 (67%) other patients have received 452/1057 (43%) CA 125 tests for screening purposes in various clinical situations. Therefore, only 33% (152/462) patients including 57% (605/1057) of tests, had CA 125 assessments done for the correct indication. The current pattern of practice shows that a great number of CA 125 requests were inappropriate. Educational actions aimed at laboratory users concerning the optimal use of CA 125 should be considered in order to develop a more rational approach.

Adult↗
PubMed2000

[Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation and glandular component].

An exceptional case of malignant peripheral nerve sheath tumor with striated muscle differentiation and glandular component is reported, in a 52-year old man. This tumor measured 8 cm in diameter, and was localized in the chest wall, infiltrating the skeletal muscle. The mesenchymal portion of the tumor was composed mostly of spindle cells arranged in interlacing fascicles. Between these fascicles, there were large cells with abundant eosinophilic cytoplasm and clear elongated nucleus. Immunohistochemical study demonstrated cytokeratin, EMA and CEA expression in the glandular component and S100 protein expression in the major portion of the mesenchymal component. The large cells identified as rhabdomyoblasts, expressed desmin, myoglobin, alpha-SR actin and alpha-SM actin. The tumor recurred 5 years after its resection. Histological and immunohistochemical features were identical. We think that positivity of neoplastic striated muscle cells with alpha-SM actin reflects an early differentiation phase of these cells.

Carcinoembryonic Antigen↗
PubMed1999

[Molecular pathology of colorectal cancer].

The identification of several types of familial colorectal cancer has led to the discovery of some of the genes involved in these diseases. It was subsequently shown that somatic mutations of these genes (APC, mismatch repair genes, TP53) also occur in sporadic colorectal cancer. Gradually, this molecular information is being incorporated into the standard histopathological analysis of colorectal cancer and can be used for the characterization of primary tumors. Although attempts have been made to use molecular parameters to better define dysplasia grades, differentiate between adenoma and carcinoma, and subtype carcinomas, histological parameters remain the standard for the classification of primary tumors. Nonetheless, molecular parameters may help define subgroups of colorectal carcinoma differing in prognosis and requiring individualized treatment regimens. Interesting possibilities are predicting the response of chemotherapy or radiotherapy at a molecular level and the search for metastasis by looking for molecular markers in lymph nodes or circulating blood. Other pathological tests being developed include the detection of K-ras, TP53 or APC mutations in stool and plasma. Such approaches will have a significant impact on the clinical management of colorectal cancer.

Biomarkers, Tumor↗
PubMed1998

Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.

Lynch syndrome, or hereditary non-polyposis colorectal cancer (HNPCC), is a consequence of a dominantly inherited susceptibility to accumulate somatic mutations. The disorder is manifested as a familial aggregation of colorectal cancers diagnosed at an early age and, to a lesser degree, of cancers of the endometrium, ovary, urinary tract, and organs of the gastrointestinal tract other than the colon. In more than half of the HNPCC families investigated, the cancer predisposition has been linked to germline mutations in one of the 2 genes hMLHI or hMSH2, involved in post-replicative DNA-mismatch repair. Twenty-four Swiss families affected with colorectal cancer were screened for germline mutations in these 2 genes, and pathogenic mutations were identified in over 70% of the families fulfilling the Amsterdam criteria (AC), but in only 10% of the families not completely fulfilling these criteria. One of the reported mutations, discovered in an extended HNPCC kindred from the Swiss Alps, is shown to be a founding mutation. Unexpectedly, all the mutations identified are in the hMLHI gene, where all but one are novel sequence alterations. Our data suggest that an unusually high proportion of Swiss HNPCC patients may harbour a germline mutation in the hMLHI gene.

Adaptor Proteins, Signal Transducing↗
PubMed1998

Metastizing low-grade clear cell leiomyosarcoma of the uterus.

An unusual case of uterine clear cell tumor is reported in a 56-year-old woman. The neoplasm was identified as a peculiar low-grade leiomyosarcoma, composed mainly of watery, clear large cells with round, fairly regular nuclei. No appreciable pleomorphism or high mitotic activity was noted. There was no necrosis. The presence of occasional areas of transition between these cells and typical spindle leiomyosarcoma cells, together with the immunohistochemical results, allowed the recognition of a smooth muscle origin of this clear cell tumor. The patient was treated by hysterectomy. Six years later she developed an inguinal metastasis resembling an hibernoma, and then later developed a large retroperitoneal metastasis, which was composed entirely of clear cells and was distinguished from a liposarcoma by immunohistochemistry.

Actins↗
PubMed1998

[Pelvic hemangiopericytoma in pregnancy. Report of a case].

We report a case of pelvic retroperitoneal hemangiopericytoma (HPC) discovered early during pregnancy. Preoperative diagnosis was obtained by a transvaginal biopsy. Treatment consisted of therapeutic abortion, excision surgery and radiotherapy. In the follow-up examination 32 months after operation, no evidence of tumor recurrence was found. This is the second reported case of HPC complicating pregnancy.

Adult↗
PubMed1997

[Ovarian cancer: the symptoms and pathology. The cases of the Cantonal Cancer Registry (1989-1995)].

BACKGROUND: Ovarian cancer is most frequently discovered at an advanced stage. The absence of symptoms in the early stages is thought to be the main reason for this late discovery. We tried to determine whether there are any specific signs or symptoms for early or late stages. METHODS: From 1989 to 1995, the Cantonal Cancer Registry recorded 124 patients with ovarian cancer; 119 (96%) cases were evaluated. We defined signs and symptoms which led to the diagnosis, their histopathological properties and the medical specialty of the physician first consulted. The data were then analyzed for early stages (IA to IB) (n = 27) and advanced stages (IC to IV) (n = 92). RESULTS: In the early as well as late stages, the most common symptoms were abdominal pain (76%) and gastrointestinal problems (45%). Bladder and gynecological symptoms were rare (25% and 7% respectively). In the early stages, however, the ovarian tumor was larger (median size 14 vs 11 cm), there were more well differentiated tumors (48% G1 vs 25%) and the age was lower (median age 55 vs 66 years). The physician first consulted was a general practitioner in 2/3 (68%) of the cases and a gynecologist in 17%. CONCLUSIONS: There are no specific ovarian carcinoma symptoms either in the early or in the late stages. The histology showed that tumors in the early stages were less aggressive and usually occurred in younger patients. The general practitioner was most often the first physician consulted by women suffering from ovarian cancer. General practitioners, therefore, should be specialists in the diagnosis of this disease, paying particular attention to women over 40 presenting with persistent abdominal pain.

Adult↗
PubMed1997

[From dysplastic nevus to malignant melanoma--a study of 4 anatomoclinical cases of dysplastic nevus syndrome].

Malignant melanoma (MM) is a skin neoplasm with an increasing incidence. Late discovery is often associated with lethal outcome. Among the possible precursor lesions of MM, the Dysplastic Naevus (DN) is a matter of controversy. We have studied 4 cases of Dysplastic Naevus Syndrome (DNS) and analysed 39 lesions of Dysplastic Naevus. We adopt the "ABCDE" rule (A = Asymmetry, B = Border irregularity, C = Colour inhomogeneity, D = Diameter > 0.5 cm, E = Elevation or Extension) for clinical diagnosis of DN or MM. We conclude that the DN is a risk marker, a precursor of MM and a potential precancerosis. We present recommendations for management of the Dysplastic Naevus Syndrome and prevention of malignant melanoma.

Adult↗
PubMed1997

Systemic mastocytosis following a malignant ovarian germ cell tumour.

Cases of mediastinal germ cell tumours associated with haematological disorders (two cases of systemic mastocytosis included) have been reported previously. This combination is more frequent than would be expected by chance alone. We report the case of a 30-year-old woman, who presented with a systemic mastocytosis following a malignant ovarian germ cell tumour which was treated by chemo- and radiotherapy. The patient predominantly complained of skeletal pains, which led to an erroneous radiological diagnosis of fibrous dysplasia for years. An aggressive variant of systemic mastocytosis was diagnosed on bone marrow examination. Systemic mastocytosis was confirmed by splenectomy, liver biopsy and finally autopsy. The present case is unique because of the ovarian location of the germ cell tumour. We suggest our observation could be related to the broad group of haematological malignancies associated with germ cell tumours.

Adolescent↗
PubMed1996

Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation.

Hereditary non-polyposis colorectal cancer (HNPCC) is characterised by a genetic predisposition to develop colorectal cancer at an early age and, to a lesser degree, cancer of the endometrium, ovaries, urinary tract, and organs of the gastrointestinal tract other than the colon. In the majority of families the disease is linked to mutations in one of the two mismatch repair genes, hMSH2 or hMLH1. We have found a novel hMLH1 nonsense mutation in a Swiss family with Lynch syndrome, which has been transmitted through at least nine generations. A different tumour spectrum of neoplasms of the skin, soft palate, breast, duodenum, and pancreas was observed in three branches of this family, where there was a virtual absence of colonic tumours. The hMLH1 mutation could not be detected in members of these branches suggesting that at least a second genetic defect predisposing to cancer is segregating in part of the kindred.

Adaptor Proteins, Signal Transducing↗
PubMed1990

Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings.

Two siblings are reported who were symptomatic in the neonatal period. The first died suddenly at 4 days of age after regurgitating a meal. The postmortem examination showed steatosis of the liver, kidney and muscle. In the second, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency was diagnosed at 3 days of age with muscular hypotonia, vomiting, hyperammonaemia and mild acidosis. Thus disorders of fatty acid oxidation should also be considered in newborns. The biochemical work up indicates that in neonates, analysis of serum medium-chain fatty acids and of acyl and free carnitine are more likely to lead to a diagnosis than determining dicarboxylic acids alone in urine. Long-term treatment was effective and monitored by the acyl/free carnitine ratio.

Acid-Base Equilibrium↗
PubMed1990

Hymenolepis diminuta: intestinal mast cell and eosinophil response of the mouse to infection.

It has been demonstrated that the rejection of Hymenolepis diminuta by the mouse is characterized by a humoral response in serum and intestinal lavage. Now the response is also shown to be accompanied by a mast cell and eosinophil response in the lamina propria of the intestine. The mast cell response is, in time and place, correlated with the rejection process of H. diminuta. With regard to the number of eosinophils in the lamina propria, a significant response was only found in the second half of the intestine. The eosinophil peroxidase (EPO) concentration in the intestinal lumen is correlated with the rejection of the parasite and illustrates the involvement of eosinophils in the rejection process. The course of the EPO response is identical to the mast cell response. This, together with other results, suggests that, as to other "systemic" worm infections, a mast cell-eosinophil response may be, at least in part, responsible for the rejection of H. diminuta from the intestinal lumen.

Animals↗