Primary ethmoid sinus squamous cell carcinoma in a young adult man.

In this case report we describe an aggressive primary ethmoid squamous cell carcinoma in an unusually young patient.

The Scenario-Based Engineering Process (SEP): a user-centered approach for the development of health care systems.

The Scenario-based Engineering Process (SEP) is a user-focused methodology for large and complex system design. This process supports new application development from requirements analysis with domain models to component selection, design and modification, implementation, integration, and archival placement. It is built upon object-oriented methodologies, domain modeling strategies, and scenario-based techniques to provide an analysis process for mapping application requirements to available components. We are using SEP in the health care applications that we are developing. The process has already achieved success in the manufacturing and military domains and is being adopted by many organizations. SEP should prove viable in any domain containing scenarios that can be decomposed into tasks.

Assessment of relative risk of second primary tumors after ovarian cancer and of the usefulness of double primary cases as a source of material for genetic studies with a cancer registry.

BACKGROUND: It now is accepted that a small proportion of people with certain forms of cancer have a dominantly inherited gene fault that predisposes them to it. This is more likely with an early age at onset or when the person has had multiple primary tumors. METHODS: Population-based data from the North West Regional Cancer Registry of England regarding 4157 ovarian cancer cases diagnosed between 1980 and 1989 were analyzed to determine the relative risks (RR) of second primary breast and colorectal carcinomas. RESULTS: Elevated risks approaching significance were observed for breast and colorectal carcinoma subsequent to ovarian cancer. After stratification into groups for ovarian histopathologic characteristics and age at onset, significantly elevated risks were obtained for both breast and colorectal tumors after ovarian carcinoma for women younger than 60 years of age at onset and with serous histopathologic characteristics (breast RR, 2.68, P < 0.05; colorectal RR, 4.25, P < 0.05). CONCLUSIONS: These results emphasize the need for greater awareness of the possibility of development of additional cancer after ovarian carcinoma in high-risk groups. Overall, the study supports the theory that breast, colorectal, and ovarian tumors are related genetically.

Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.

There are many potential complications which have been reported in association with the naevoid basal cell carcinoma syndrome. We have been able to show the relative frequencies of these problems in a population based study of 84 cases in the north west of England. The major complications of basal cell carcinomas and jaw cysts occur in over 90% of patients by 40 years of age, but may both occur before 10 years of age. Less well described complications are ovarian calcification or fibroma (24%), medulloblastoma (5%), cardiac fibroma (3%), cleft palate (5%), and ophthalmic abnormalities such as squint or cataract (26%). This study more clearly defines the possible complications of the syndrome and gives clearer guidelines for counselling and screening affected and at risk persons.

A linkage study in seven breast cancer families.

Seven breast cancer families are examined for evidence of linkage to a site in the region of 17q12-q21, by using five markers. The families constitute a subset of a larger series of familial breast cancer; the seven families were selected because constitutional DNA was available on informative members, either from clinical samples or extracted from paraffin blocks. Two-point lod scores are reported. The maximum lod score, 0.8824, is obtained with marker NM23 at theta = 0. This is clearly not significant in itself; however, when taken in context with evidence from existing reports, it provides support for linkage to this region.

Perception of risk in women with a family history of breast cancer.

We present the findings of a pilot study to assess the perception of risk in 155 women with a family history of breast cancer by questionnaire. Only 11% of women were able to identify the correct population risk and more than half were unable to assess their own lifetime risk within 50% of the clinicians' estimate. Although it is probable that women are helped by genetic counselling and if at substantial risk, annual mammography, the psychological impact of assigning true risk and the value of mammography need to be evaluated.

Congenital anomalies and genetic syndromes in 173 cases of medulloblastoma.

One hundred seventy-three consecutive cases of medulloblastoma recorded in the Manchester Children's Tumour Registry from 1954 to 1989 were studied. After review of case notes, X-rays, and health surveys the clinical outcome and incidence of congenital anomaly was determined. A previously unreported association with Rubinstein Taybi syndrome was found. Evidence of a genetic syndrome or congenital anomaly was found in 6.4%. These figures provide further evidence of the higher-than-expected incidence of congenital abnormalities.

The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma.

We have investigated the incidence of Gorlin syndrome (GS) in patients with the childhood brain tumour, medulloblastoma. One hundred and seventy-three consecutive cases of medulloblastoma in the North-West Regional Health Authority between 1954 and 1989 (Manchester Regional Health Board before 1974) were studied. After review of case notes, X-rays and health surveys only 2/173 cases had evidence supporting a diagnosis of GS. A further case at 50% risk of GS died of a brain tumour aged 4 years. The incidence of GS in medulloblastoma is, therefore, probably between 1-2%. A population based study of GS in the region started in 1983 was used to assess the incidence of medulloblastoma in GS, which was found to be between 3-5%. This figure is lower than previous estimates, but this is the first population based study undertaken. In view of the early age of onset in GS (mean 2 years) children presenting with medulloblastoma, especially under 5 years, should be examined for signs of the syndrome. Those at high risk of developing multiple invasive basal cell carcinomata will then be identified.