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H F Vasen

Publications and source records attributed to H F Vasen.

At least 91 records · Page 5Linked to original sources
PubMed1993

Surveillance in hereditary nonpolyposis colorectal cancer: an international cooperative study of 165 families. The International Collaborative Group on HNPCC.

During its second meeting at Amsterdam in 1990, the International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) decided to carry out a pilot study on colorectal cancer surveillance in HNPCC. The objectives of the study were to ascertain in each of the participating centers the number of HNPCC families, the recommended screening procedures, the age at diagnosis of colorectal cancer (CRC), and the occurrence of interval cancers. Nine centers in seven countries including Denmark, Finland, Italy, Japan, The Netherlands, Switzerland, and the United States participated. Data were derived from a total of 165 families. With respect to screening, half of the centers advise colonoscopy as the only procedure. The interval between the consecutive examinations varies from one to three years. In the majority of the centers, screening begins at 20 to 25 years. Lifelong screening is recommended by three centers, while the rest advise discontinuation at age 60 to 75 years. The family material included 840 patients with colorectal cancer. The mean age at diagnosis was 45 years, and about 15 percent were diagnosed at age 60 or later. A total of 682 high-risk relatives are being followed. After the follow-up of 1 to 10 years in these families, only six cases of interval cancers were encountered.

Adolescent↗
PubMed1993

Clinical heterogeneity of hereditary breast cancer and its impact on screening protocols: the Dutch experience on 24 families under surveillance.

We investigated 24 families who satisfied a set of criteria for hereditary breast cancer. Five families had only breast cancer, four a combination of breast and ovarian cancer and the remaining 15 had also a variety of other cancers. The families include 86 patients, 78 of which had a malignant tumour and the rest had a benign lesion in the breast. The median age at diagnosis of the breast cancer was 47 years. Three of the 24 families were of a late onset variant. 58 of the 86 patients were symptomatic while 18 were identified during presymptomatic screening because of a positive family history. In 10 cases the reason for referral was not known. 56 of the symptomatic patients had a malignant breast lesion, 52% of which were with lymph node metastasis whereas 12 of the screening group had breast cancer with 2 patients showing lymph node involvement (P = 0.06). 22 of the symptomatic patients and none of the screening patients died of breast cancer after a median observation period of 6 and 7 years, respectively (P < 0.05).

Adult↗
PubMed1993

Linkage to markers for the chromosome region 17q12-q21 in 13 Dutch breast cancer kindreds.

We have performed linkage analysis with five markers for the chromosome region 17q12-q21 in 13 Dutch breast cancer kindreds in order to find support for the claim by Hall et al. that a gene in this region, termed "BRCA1," is associated with predisposition to early-onset familial breast cancer. This work is part of a collaborative study, the results of which are published elsewhere in this issue. Best evidence for linkage was observed with the marker CMM86 (D17S74) in pedigrees with an average age at onset of < or = 47 years (LOD score = 1.77 at 1% recombination). In one breast-ovarian cancer family with a high probability of being linked to 17q, we observed one putative recombinant between D17S250 and D17S579, which suggests that BRCA1 is proximal to D17S579.

Adult↗
PubMed1992

Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis.

Turcot syndrome (TS) is a rare genetic disease in which brain tumors occur in association with colonic polyposis. Since Turcot's original description in 1959, there have been disagreements about the mode of inheritance as well as the clinical expression of this condition. Some investigators maintain that TS is a phenotypic variant of the autosomal dominant familial adenomatous polyposis (FAP), while others observe that there are clinical differences between TS and FAP, and that the pattern of inheritance of TS is autosomal recessive. The distribution of persons with colonic lesions in a family with a patient of colonic polyposis and a brain tumor, described in this report, favored the recessive hypothesis. In this family, the involvement of the FAP gene on chromosome 5q21-q22 could be excluded by a linkage study using a panel of FAP-linked DNA markers. This finding, which indicates the occurrence of another polyposis gene elsewhere in the genome, will have consequences for the presymptomatic diagnosis of FAP by linked DNA markers. We conclude that TS is a distinct clinical-genetical entity with the triad of atypical polyposis coli, CNS tumors, and a recessive mode of inheritance.

Adenomatous Polyposis Coli↗
PubMed1992

The natural course of multiple endocrine neoplasia type IIb. A study of 18 cases.

BACKGROUND: Multiple endocrine neoplasia (MEN) type IIb is an autosomal dominantly inherited disorder associated with medullary thyroid cancer, pheochromocytoma, and a characteristic phenotype. The present study was performed to investigate the natural course of the syndrome and to describe its expression. METHODS: The medical records of 18 patients with MEN IIb, seven male and 11 female, were reviewed. RESULTS: The mean age at diagnosis of MEN IIb was 18 years (range, 8 to 41 years). All 18 patients had medullary thyroid cancer. In three patients, medullary thyroid cancer was diagnosed via screening. In two of these patients, the calcitonin value normalized after thyroidectomy. One patient died of metastases from medullary thyroid cancer at the age of 20 years (median duration of follow-up, 10 years). Eight of the 18 patients had pheochromocytomas. All of our patients had neuromas and bumpy lips, and all but one had a marfanoid habitus. A large proportion of the patients had intestinal abnormalities (75%), thickened corneal nerves (69%), skeletal abnormalities (87%), and delayed puberty (43%). CONCLUSIONS: The course of medullary thyroid cancer in MEN IIb is not always as aggressive as is generally thought. Periodic examination of relatives who are at risk may lead to early diagnosis and curative treatment. Intestinal abnormalities, skeletal abnormalities, and delayed puberty are commonly found in association with MEN IIb.

Adolescent↗
PubMed1991

A new deletion polymorphism at D5S71 raises the linkage information on adenomatous polyposis coli: implications for presymptomatic diagnosis.

Two independent study-groups, one in Britain and the other in the United States, were the first to report linkage between APC and a TaqI restriction fragment length polymorphism (RFLP) at D5S71 (probe C11p11) on chromosome 5q. They found no recombinants in about 50 informative meioses. The same TaqI RFLP was found to be uninformative for linkage in 15 Dutch polyposis families. The recently reported four base-pair deletion polymorphism (DEL1) at D5S71 has raised the polymorphism information content of this marker from 0.17 to 0.40 in the Dutch population. Seven of 20 polyposis families screened for the DEL1 as well as the TaqI polymorphism gave a combined peak lod score of 5.68 with no recombinants in 37 informative meioses. These data, together with those so far reported in the literature, raise the peak lod score to 17.09 at a recombination fraction of 0.05, the 95% upper confidence limit being 0.09. In combination with the use of another informative marker, D5S81 (probe YN5.48) closely mapping on the other side of APC, the presymptomatic diagnosis of the disease can be made with more than 99.9% certainty. It has to be stressed, however, that the the possible existence of more than one polyposis locus cannot, as yet, be excluded.

Adenomatous Polyposis Coli↗
PubMed1990

[Prevention of familial tumor diseases using genetic counseling and early diagnosis].

Several types of familial cancer can be prevented from progressing into an advanced stage through genetic counselling and regular medical control of persons at risk. Measures of secondary cancer prevention and their efficacy are described for retinoblastoma, MEN2 syndrome, familial colorectal carcinoma with (FAP) or without (HNPCC) pre-existing polyposis coli, dysplastic naevi syndrome, basal cell naevi syndrome and von Hippel-Lindau syndrome. The prevention of malignancies is promising primarily for the familial forms, since persons at risk are motivated to employ preventive measures, especially if they can be identified through DNA diagnosis and counselled with concrete information. The establishment of familial cancer registries should be considered which improve the continuous medical care for all family members, even in the case of a change of the family physician or a loss of contact.

Adenomatous Polyposis Coli↗
PubMed1990

The tumour spectrum in hereditary non-polyposis colorectal cancer: a study of 24 kindreds in the Netherlands.

The hereditary colonic cancer syndrome without polyposis, hereditary non-polyposis colorectal cancer (HNPCC), is usually divided into 2 main categories: hereditary site-specific colorectal cancer (Lynch syndrome I) and colorectal cancer in association with other forms of cancer (Lynch syndrome II). One problem associated with Lynch II is the uncertainty as to which types of cancer form part of the hereditary tumour spectrum. The present study was performed to obtain more information about the tumour spectrum of HNPCC. In the 24 HNPCC families studied, 104 patients had colorectal cancer (mean age at diagnosis: 46 years) and in 4 of the families this was the only type of cancer to occur. Sixty-five extra-colonic tumours were diagnosed in 20 families. Endometrial carcinoma was found in 16 patients belonging to 12 families. Cancer of the stomach occurred in 10 patients representing 5 families, and mainly in the older generations. Urinary-tract tumours were found in 8 patients from 4 families. Second primary tumours were diagnosed in 13 of the 16 patients with endometrial cancer, in 4 of the 10 patients with stomach cancer and in 7 of the 8 patients with a urinary-tract tumour. Many other types of carcinoma were found as well, but less frequently. In our families, the trait appears to be transmitted by patients with cancer of the stomach, endometrium or urinary tract, because some of their children have developed colorectal cancer. The findings suggest that, in these 24 HNPCC families, carcinomas of the endometrium, stomach and urinary tract belong to the hereditary tumour spectrum. Definite assignment of tumours to this spectrum will become possible only after a sensitive and specific biomarker becomes available. The screening programme should depend on which and how many extra-colonic tumours occur in a family.

Acetyltransferases↗
PubMed1990

The value of screening and central registration of families with familial adenomatous polyposis. A study of 82 families in The Netherlands.

In 1984 a national registry of families with familial adenomatous polyposis was set up in The Netherlands to promote screening in those families. Eight-two families had been registered by the end of 1988. Analysis of the pedigrees showed that 204 family members at risk had not yet been screened. The diagnosis of familial adenomatous polyposis was histologically confirmed in 230 patients. These patients were subdivided into two groups. Group A comprised patients with familial adenomatous polyposis referred because they were symptomatic, and Group B relatives of these patients who were found by screening to have familial adenomatous polyposis. The authors compared these groups with respect to the occurrence of colorectal carcinoma. Fifty-four patients were found to have a colorectal carcinoma at the time of diagnosis of familial adenomatous polyposis, i.e., 49 of the 104 patients in Group A (47 percent) and five of the 126 patients in Group B (4 percent). The average age at diagnosis of the 104 patients in Group A was 35 years (range, 13 to 66 years) and that of the 126 patients in Group B was 24 years (range, 8 to 59 years). By the age of 40 years, 90 percent of the patients in group B had been diagnosed. Late onset of familial adenomatous polyposis was found in four families. Endoscopy and/or radiography of the upper digestive tract were (was) performed in 44 of the 230 patients. Nineteen patients (43 percent) were found to have polyps in the stomach or duodenum, or both. In our series, only one patient died from cancer of the upper digestive tract (ampullary carcinoma). These results show conclusively that screening leads to the early detection of familial adenomatous polyposis. The value of a national registry is proved by the finding of many at-risk family members who had not previously been screened. Screening should start between the ages of 10 and 12 and should continue up to the age of 50. In the rare cases of families with an apparently late onset of familial adenomatous polyposis, screening should be continued up to age 60. More studies are needed to determine the natural history of polyps in the upper digestive tract.

Adenomatous Polyposis Coli↗
PubMed1990

Insulinomas in MEN-I patients: early detection and treatment of insulinomas in patients with the multiple endocrine neoplasia syndrome type-I.

In the multiple endocrine neoplasia syndrome type I (MEN-I syndrome), periodic screening of patients and their close relatives may improve prognosis and life expectancy. Although there is diffuse involvement of the pancreas with microadenomatosis, insulinomas in the MEN-I syndrome usually occur as single tumours. This is illustrated here by two patients with insulinomas and the MEN-I syndrome. Preoperative localization of the tumours was achieved accurately by digital subtraction angiography combined with dynamic computerized tomography after a bolus injection of contrast medium. At present, two and three years after elective surgery both patients are asymptomatic. The early detection and treatment of insulinomas is extremely important because of the high risk of cerebral damage associated with late diagnosis. Periodic investigation of MEN-I family members can promote the early diagnosis and treatment of insulinomas, especially in young patients, whose life expectancy and quality of life may be improved.

Adolescent↗
PubMed1989

Presymptomatic diagnosis of familial adenomatous polyposis by bridging DNA markers.

Familial adenomatous polyposis (FAP) is a disorder with autosomal dominant inheritance, which predisposes to colorectal adenocarcinoma. The gene causing the disorder has been assigned to chromosome 5 by means of a polymorphic DNA marker called C11p11. An informative Dutch pedigree showed that two other linked polymorphic DNA markers, Pi227 and YN5.48, closely flank the FAP locus, one on either side. This finding will allow prenatal and presymptomatic diagnosis of FAP, with more than 99.9% reliability in the majority of families, by means of already available markers.

Adenomatous Polyposis Coli↗
PubMed1989

Screening for hereditary non-polyposis colorectal cancer: a study of 22 kindreds in The Netherlands.

PURPOSE: Identification of the hereditary non-polyposis colorectal carcinoma syndrome (HNPCC) is a basis for secondary prevention. The objectives of this study are to investigate the natural history of HNPCC and to assess the effect of screening. PATIENTS AND METHODS: Screening for colorectal carcinoma was performed in 22 HNPCC families (colonoscopy or double-contrast barium enema and sigmoidoscopy). The patients were subdivided into two groups. Group A comprised patients with colorectal cancer who were referred because they were symptomatic. Group B included family members of these patients who were found to have a colorectal lesion by screening. We compared these groups with respect to the stage of tumor growth. RESULTS: Histologic examination of the tumors in Group A (87 patients) revealed Dukes A carcinomas in six patients, Dukes B carcinomas in 37, Dukes C carcinomas in 21, and Dukes D carcinomas in 10 patients (classification unknown in 13 patients). In Group B (20 patients), adenoma was found in 14 and carcinoma in six patients (Dukes A in two and Dukes B in four patients). A total of 93 patients, including those whose tumors were detected by screening, had a colorectal carcinoma. The age at diagnosis ranged from 24 to 81 years (mean age: 46 years). The location of the colonic tumors was proximal in 60 percent. Multiple primary tumors were found in 26 percent. CONCLUSION: These results suggest that screening leads to the early detection of colorectal carcinomas and adenomas in asymptomatic members of HNPCC families. Screening should be initiated at the age of 20 and continued during the life of the individual. Careful examination of the right colon is indicated because of the frequent occurrence of tumors in the proximal colon. A subtotal colectomy is indicated at the time of diagnosis of the initial colon cancer because of the risk of multiple primary tumors.

Adenoma↗
PubMed1989

The familial dysplastic nevus syndrome. Natural history and the impact of screening on prognosis. A study of nine families in the Netherlands.

Since 1982, nine families with the dysplastic nevus syndrome have been identified in the Leiden area (The Netherlands). A total of 50 primary melanomas were diagnosed in 38 persons. Nineteen of these melanomas had been diagnosed before the start of the screening programme (category I), 11 were detected at the initial examination of the families (category II), and 20 were found during the course of follow-up (category III). To assess the effect of screening, we compared these categories with respect to the developmental stage of the melanomas. One of the 19 melanomas in category I, two of the 11 in category II and seven of the 20 in category III were melanoma in situ. The average thickness of the invasive melanomas in categories I, II and III was 1.75, 0.80 and 0.54 mm respectively. Sixteen of the 19 melanomas in category I (84%) were Clark III or IV, whereas 15 of the 20 melanomas in category III (75%) were Clark I or II. From these findings it may be concluded that screening can lead to the detection of melanomas at an earlier stage, which in turn can permit curative treatment and improvement of both prognosis and life expectancy. The need for supervision based on central registration of affected families to guarantee the continuity of screening is discussed.

Adolescent↗
PubMed1989

Pheochromocytoma-induced hypertensive encephalopathy revealing MEN-IIa syndrome in a 13-year old boy. Implications for screening procedures and surgery.

In the multiple endocrine neoplasia (MEN) type II syndrome, pheochromocytomas become manifest at a later age than medullary thyroid carcinomas (MTC) do. The present report concerns a 13-year-old boy, belonging to a MEN-IIA kindred, who was admitted because of convulsive seizures related to hypertensive encephalopathy. A pheochromocytoma was suspected immediately and appropriate medical therapy was initiated. A right adrenal pheochromocytoma was removed, as well as a pheochromocytoma of an accessory right adrenal gland. Today, three years later our patient is still asymptomatic and the results of the thyroid C-cell provocative tests remain normal. This case clearly justifies the conclusion that periodic investigation of MEN-II family members to detect both medullary thyroid carcinoma and pheochromocytoma should begin early in life, as the latter may be the initial life-threatening expression of the disease. Long-term follow-up of patients treated with unilateral adrenalectomy will permit better definition of the risk of contralateral recurrence in such cases.

Adolescent↗
PubMed1989

Screening for the multiple endocrine neoplasia syndrome type I. A study of 11 kindreds in The Netherlands.

Since 1974, a total of 11 families with the multiple endocrine neoplasia syndrome type I (MEN-I), including 52 patients, were identified. Fifteen of these 52 patients died of MEN-I-related complications (mean age, 44 years), most of them in the period before screening was started. In 11 of the 15 patients, death was caused by complicated peptic ulcer disease, in 2 by metastasis of an endocrine pancreatic tumor, and in 2 by renal failure due to hyperparathyroidism. Family screening led to the diagnosis of 43 new endocrine lesions: 21 cases of hyperparathyroidism, 16 endocrine pancreatic tumors, and 6 pituitary tumors. Hyperparathyroidism either was the first manifestation of MEN-I or was diagnosed simultaneously with the other components of the syndrome in 44 (94%) of the 47 patients who underwent full evaluation.

Adolescent↗