Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population
TLDR
The development of malignant and benign tumors in patients with neurofibromatosis type 1 (NF1) was investigated in a long term follow‐up study of 70 adult NF1 patients living in Göteborg, Sweden, on January 1, 1978.Abstract:
BACKGROUND
The development of malignant and benign tumors in patients with neurofibromatosis type 1 (NF1) was investigated in a long term follow-up study of 70 adult NF1 patients living in Goteborg, Sweden, on January 1, 1978. Their mean age at that time was 44 years (range, 20-81 years). The 70 NF1 patients had previously been investigated in a population-based study.
METHODS
The first part of this study involved a cancer registry study. The authors compared the number of tumors in the 70 NF1 patients reported to the Swedish Cancer Registry during the period 1978-1989 with the number of tumors expected in the general population by matching the incidence rates of the two populations specific to age, time of follow-up, and gender. The 95% confidence interval for the risk quotient between the risk to the patients and the risk to the general population was estimated. The second part of the study was a clinical pathologic follow-up study. All living patients were offered a clinical reexamination in 1990. All hospital records for all the NF1 patients were reviewed, and death certificates were also reviewed when available.
RESULTS
Malignant tumors were reported to the Cancer Registry four times as often in the NF1 patient group as in the general population (95% confidence interval, 2.1-7.6) during the follow-up period 1978-1989. Before 1978, 5 of 70 patients (7%) had 6 malignant tumors; these patients were not included in the Cancer Registry study. Using all available clinical data on the 70 NF1 patients from their birth up to 1990, the authors found that 17 of 70 patients (24%) had developed a total of 19 malignant tumors, namely, 5 sarcomas (in 7% of patients), 13 carcinomas (in 16%), and 1 malignant melanoma (in 1%). Four pheochromocytomas (in 6% of patients), 2 adenomas, and 1 C-cell hyperplasia were diagnosed. Five gastrointestinal stromal tumors (in 7% of patients) were also diagnosed.
CONCLUSIONS
Malignant tumors were reported to the Swedish Cancer Registry significantly more often in the NF1 patients than was expected in the general population matched for age, gender, and time of follow-up. The development of tumors is part of the NF1 disease process, and this deserves attention both in the clinical setting and in family counseling dealing with complications of NF1 in adulthood. Cancer 1997; 79:2125-31. © 1997 American Cancer Society.read more
Citations
More filters
Journal ArticleDOI
Biology of gastrointestinal stromal tumors.
TL;DR: The rapid progress that has established GIST as a model for understanding the role of oncogenic kinase mutations in human tumorigenesis is charted and a molecular-based classification of GIST is proposed.
Journal ArticleDOI
Gastrointestinal stromal tumour
Brian P. Rubin,Michael Heinrich,Michael Heinrich,Christopher L. Corless,Christopher L. Corless +4 more
TL;DR: Targeting activated proteins with imatinib mesylate, a small-molecule kinase inhibitor, has proven useful in the treatment of recurrent or metastatic gastrointestinal stromal tumours and is now being tested as an adjuvant or neoadjuvant.
Journal ArticleDOI
Epidemiology of neurofibromatosis type 1
TL;DR: The prevalence of neurofibromatosis type 1 is somewhat higher in young children than in adults, a difference that probably results in part from the early death of some NF1 patients.
Journal ArticleDOI
Malignant peripheral nerve sheath tumor: analysis of treatment outcome
TL;DR: Patients with perineurial MPNSTs had a much lower rate of distant metastasis and a better overall survival as compared with other histologic subtypes, and management of patients withMPNST involves a multi-modality approach.
Journal ArticleDOI
NF1 Gene and Neurofibromatosis 1
TL;DR: It appears that the benefits of population-based screening for clinical features of NF1 would not outweigh the costs of screening, and most studies have not found an obvious relation between particular NF1 mutations and the resulting clinical manifestations.
References
More filters
Journal ArticleDOI
Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients
Margaret R. Wallace,Douglas A. Marchuk,Lone B. Andersen,Roxanne Letcher,Hana Odeh,Ann M. Saulino,Jane W. Fountain,Anne Brereton,Jane M. Nicholson,Anna L. Mitchell,Bernard H. Brownstein,Francis S. Collins +11 more
TL;DR: The use of chromosome jumping and yeast artificial chromosome technology has now led to the identification of a large (approximately 13 kilobases) ubiquitously expressed transcript (denoted NF1LT) from this region that is definitely interrupted by one and most likely by both translocations, suggesting that NF1 LT represents the elusive NF1 gene.
Journal Article
Neurofibromatosis. Conference statement, National Institute of Health development conference
Journal ArticleDOI
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.
Richard M. Cawthon,Robert B. Weiss,Gangfeng Xu,David Viskochil,Melanie Culver,Jeff Stevens,Margaret Robertson,Diane M. Dunn,Raymond F. Gesteland,Peter O'Connell,Ray White +10 more
TL;DR: The TBR gene is established as the NF1 gene and a description of a major segment of the gene is provided, indicating base pair changes in the gene.
Journal ArticleDOI
Neurofibromatosis : phenotype, natural history, and pathogenesis
TL;DR: NF1: historical background and introduction clinical and epidemiologic features evaluation and management genetics molecular biology and pathogenesis neurofibromas and malignanat peripheral nerve sheath tumours cognitive function and academic performance.
Journal ArticleDOI
Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales
TL;DR: A population-based study in south-east Wales identified 135 patients with von Recklinghausen neurofibromatosis and found that the disease is disfiguring but not a major cause of morbidity, and the management of the disease relates to its complications.