A probable transient ischemic attack in a 45-year-old woman revealed bilateral atrial myxoma associated with lentiginosis. The patient's 20-year-old son had isolated lentiginosis. The characteristics of this autosomal dominant syndrome are reviewed.

Pulmonary disease is very rare during the course of tuberous sclerosis of Bourneville (STB). The authors report two cases of STB with pulmonary involvement occurring in the same family, mother and daughter. Both presented with typical cutaneous manifestations of the disease and bilateral renal angiomyolipomas. In the daughter, the early pulmonary diagnosis was made by computed tomographic examination (TDM) which showed the images of the cyst very sharply, although the pulmonary radiograph was normal. Prolonged follow up with pulmonary function tests is important. Lung function tests were very abnormal in the mother with a frank diminution of the TLCO and hypoxia at rest. In the daughter, they revealed the development of obstructive airways disease. Bronchoalveolar lavage was carried out in both the mother and daughter and showed intra-alveolar haemorrhage (with a ground glass appearance on computed tomography in the mother). Pulmonary lymphangiomyomatosis (LPM) and STB with pulmonary involvement are clinical disorders which are anatomically closely related. If the value of hormonal treatment has been shown during the course of LMP, their efficacy in STB is variable.

A correlation between oncogenes expression (N-ras, C-myc, C-raf) and response to neoadjuvant chemotherapy has not been established in carcinology of the head and neck yet. We have studied the expression of these three oncogenes in 24 tumors patients with squamous cell carcinoma previously untreated. Tumors samples were biopsed before initiation of treatment. After extraction of total RNAs, oncogene expression was measured by northern and slot blot analysis using 32P radiolabeled probes. The endoscopic, histological and clinical response was evaluated after chemotherapy (5-FU: 1 g/m2/d, D1 to D5; CDDP: 100 mg/m2 at D1, 3 courses every 3 weeks). There was no significant difference of N-ras expression between responding or resistant tumors to chemotherapy. However, there was a significant difference of C-myc (p < 0.05) and C-raf (p < 0.01) expression between the two patients population: C-raf and C-myc expression were higher in the responding tumors than in the resistant tumors to chemotherapy. In conclusion, C-myc and C-raf expression could be a marker for chemosensitivity.

Gardner's syndrome is an adenomatous polyposis coli characterized by extracolonic manifestations such as congenital hypertrophy of retinal pigment epithelium. This inherited autosomal dominant disorder has a marked propensity to malignant transformation, so it is important to detect affected patients early. Ophthalmologic manifestations are simple, non invasive reliable and very sensitive. The gene responsible for this disorder was localized to the long arm of the fifth chromosome. The results of investigation in 3 families are reported herein and compared with the data of the literature.

Neuroblastoma is the commonest solid tumour in children under the age of 5 years (50% of cases before 2 years, 90% before 5) and the second cause of death after accidents. Approximately one child in 10,000 develops neuroblastoma by the age of 15 years. The situation in other European and North American countries is similar to that in France. As neuroblastoma is derived from the sympathetic nervous tissues, it is associated with the production of large amounts of catecholamines and their metabolites which are excreted in the urine. Less than 5% of cases do not produce catecholamines. Vanillylmandelic acid (VMA), homovanillic acid (HVA) and dopamine (DA) are the most useful chemical markers for the diagnosis and clinical control of neuroblastoma. They are generally measured using the reliable and sensitive high pressure liquid chromatography (HPLC). Survival is related to stage (the Evan's staging protocol has been superseded by the INNS staging), and age at diagnosis. There is almost 100% survival for stages I and IIa before the age of 12 months, and less than 20% for stage IV when diagnosed after 2 years of age. Multiple copies of the N-myc oncogene, deletions of chromosome 1p, and diploidy in tumour cells are associated with poor prognosis.(ABSTRACT TRUNCATED AT 250 WORDS)

Extra-abdominal desmoid is an unusual and underreported tumour in dermatological literature. We report a new case of such a lesion which was subjected to light, electron-microscopic and immunohistochemical studies. The results showed that proliferating cells exhibit features of myofibroblasts, both at the ultrastructural study (presence of cytoplasmic myofilaments) and the immunohistochemical study (cytoplasmic expression of vimentin and muscle-specific actin). Since these findings strongly suggest that desmoid tumour originates from myofibroblasts the term (extra-abdominal) "myofibroblastoma" could be proposed.

To contribution the help of flow cytometry in the diagnosis of mesothelioma in pleural effusions, we studied the aneuploid frequency in paraffin-embedded pleural mesotheliomas. The low aneuploidy rate (31%) explains the moderate yield of mesothelioma diagnosis in pleural effusions. Because of the possibility of false aneuploidies, flow cytometry cannot replace of a cytologic or histopathologic evidence.

Effect of interleukin 2 (IL-2) on the proliferative rate of a human colon adenocarcinoma line (HT-29 D4) and of an untransformed rat intestinal cell clone (IEC-6) was studied in vitro. IL-2 had an antiproliferative effect which was cytotoxic-free: interleukin 2 did not induce any significant cell death, apoptosis or change in cellular protein content. Northern blot characterization of cellular mRNA revealed that interleukin 2 enhances the expression of JUN, FOS and TGF beta which are known to be involved in antiproliferative processes. Kinetic analyses suggest that the aforedescribed biological effect is mediated by the AP1 complex (JUN/FOS) when dealing with rapid inhibition (HT-29 D4 and IEC-6) and by an autocrin TGF beta loop when dealing with slow inhibition (IEC-6).

As health care costs continue to rise in Canada, there is a need to evaluate the resources required for diagnosing and treating the major diseases having an impact on Canadian. In 1993, breast cancer was the most predominant female cancer in Canada, both in terms of incidence and mortality. It would be useful to identify the direct health care costs associated with this disease and to create an analytical framework within which diagnostic and therapeutic options can be assessed. This paper provides a description of the approach to be taken in developing a realistic conceptual model of the management of all stages of breast cancer, including diagnostic and treatment approaches, survival outcomes and costs. It includes an outline of our research objectives, a description of the kind of information required, a section on the methodology and sources to be used, and a brief explanation of the analytical framework into which it will be incorporated and used.

Adult polycystic disease of the liver (APLD) and of the kidney (ADPKD) is considered to represent one entity. In 75 ADPKD kindreds with 259 affected members, ultrasonography and/or CT were performed in 186 (71.8%) from 64 kindreds (85.3%). We demonstrated that ADPKD with or without APLD are two separate phenotypes and suggest genetic heterogeneity of these two entities.

A 31-year old woman died after 10 years of progressive dysautonomia and cerebellar and pyramidal symptoms. CT scan showed pontine, bulbar and cerebellar atrophy. Post-mortem examination revealed Rosenthal's fibers widespread throughout the CNS, but especially in the subependymal and perivascular regions. White matter cavitations involving peri-ventricular regions, hilum of dentate nuclei and pons were observed, leading to a diagnosis of adult form of Alexander's disease. At the age of 5, the patient had been operated upon for a chiasmatic tumor. Microscopic examination revealed a pilocytic astrocytoma without Rosenthal's fibers. No complementary radiotherapy had been done. Her mother has been operated upon in 1972, for a high-grade glioma and is still alive 20 years later. This suggests diffuse cerebral gliomatosis. This family history may suggest a relation between these different diseases. They might be the result of a transmissible astrocytic abnormality with varying expression.

From 1964 to 1992, 56 patients with cardiac myxoma have been operated on. Sixty seven operations have been made during which 85 myxomas have been excised. Five patients had been reoperated from recurrent myxoma: 4 patients 2 times, 1 patient one time. In this population we observe 7 cases of multiple myxomas implanted 7 times in many cavities. The study of this series displays a lot of risk factors: implantation outside the left atrium, multiple myxomas in one or several cavities, true recurrence of myxoma, young age of the patient, associated lesions as part of the Carney's complex. In this series, 13 patients, representing 5 families, have one or more of these risk factors. in two of them, a familial character has been demonstrated. Analysis of these special kinds of cardiac myxomas displays very closed analogy between familial myxomas and high risk group. These findings suggest that recurrent and/or multiple and/or familial myxoma represent the same entity.

The authors report on the case of a 5,8 year-old girl whose father died of medullary thyroid carcinoma. When she was 4,5 year-old, her physical examination was normal but plasma calcitonin and katacalcin (PDN-21) levels were abnormally high in response to pentagastrin infusion. Total thyroidectomy was performed and immunohistochemical staining showed confluent C-cell hyperplasia. No recurrence occurred in this patient over four years on follow-up.

We report the case of a pregnant woman who presented with neurofibromatosis and hypertension the latter revealed by abruptio placentae. Severe hereditary hypertension was noted in the family during pregnancies that were sometimes complicated by intrauterine growth retardation, abruptio placentae and intrauterine foetal death. Thus, neurofibromatosis in a pregnant woman has a poor obstetrical outcome when it is associated with a personal or family history of hypertension. Such women must be treated with extreme care and hospitalized at the end of the third trimester. The advisability of prevention with low-dose aspirin during the first trimester is discussed.

Breast cancer remains a key concern for oncologists. The possibility of tamoxifen treatment to prevent breast cancer in high-risk women was one of the central topics discussed for the 1992 ASCO edition. The rationale for the studies being developed in the US and Europe rests on experimental data and results of adjuvant hormone therapy trials. Decreased risks of cancer in the opposite breast, of cardiovascular disease, and of osteoporosis are effects that make tamoxifen extremely attractive for breast cancer prevention trials in postmenopausal women. In premenopausal women, however, preventive tamoxifen should be viewed with special caution because increased incidence of second cancers have been reported, although with dosages higher than those suggested for preventive therapy, and also because of difficulties with defining familial forms. The value of anthracyclines for adjuvant therapy has been demonstrated by several studies. Furthermore, a dose-response relationship has been reported with anthracyclines used as adjuvant therapy or in metastatic disease. New dose-limiting toxic effects, including thrombocytopenia and mucitis, develop when dosages are increased, with concomitant rG-CSF therapy. In patients with metastases, taxol seems to be a promising drug. Ongoing phase I trials seek to determine the optimal dosage and administration modalities for the taxol-doxorubicin combination.

Multiple genome alterations can be seen within a tumor and continue to accumulate throughout development of the growth. Chromosome deletions occurring in tumors are generating much interest. To date, the best known model is retinoblastoma whose study gave rise to the concepts of anti-oncogene or tumor suppressor gene. Studies of genetic anomalies in colorectal tumors have led to an elegant model of colonic carcinogenesis in which multiple steps, each with its corresponding genetic anomaly, successively accumulate, with deletion of the p53 gene occurring as a late event. Successive anomalies of the p53 gene (mutations, deletions) occur during passage from a low-grade astrocytoma to a higher-grade astrocytoma. Studies of familial forms of breast cancer and of breast and ovarian cancer have also provided insight into the biology of these tumors, with the identification of a predisposing chromosomal area whose location is 17 q-12-21. These approaches open up possibilities for screening techniques and use of preventive treatments in highly selected patients. However they raise many ethical problems. There is a need for developing a charter for these family studies in the near future.