A family affected with intestinal polyposis and gliomas

Todd, David W.; Christoferson, Lee A.; Leech, Richard W.; Rudolf, L E

doi:10.1002/ana.410100413

Cited by 45 publications

(7 citation statements)

References 12 publications

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“…The presence of an increased inherent risk among survivors of childhood cancer is in line with the report of an increased likelihood of CNS tumours, leukaemia, and childhood tumours in relatives of children with CNS neoplasms (Farwell & Flannery, 1984b). Several familial cancer syndromes have been reported involving tumours of the CNS; two, Turcot's syndrome (Turcot et al, 1959;Todd et al, 1981) and the Li-Fraumeni syndrome (Li & Fraumeni, 1969;Li & Fraumeni, 1982;Birch et al, 1984), are well documented. Meadows et al (1977) Ron & Modan, 1984) there was an excess of thyroid cancer, 100-fold expected among those treated with radiotherapy but no chemotherapy.…”

Section: Discussionsupporting

confidence: 61%

Incidence of second primary tumours among childhood cancer survivors

Hawkins¹,

Draper²,

Kingston³

1987

Br J Cancer

317

133

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Summary Among a cohort of 10,106 three-year survivors of childhood cancer, 90 second primary tumours (SPTs) were observed. Within 25 years of 3-year survival about 4% developed a SPT, about 6-fold expected, the relative risk not varying much with increasing follow-up.Following genetic retinoblastoma we observed 30-fold the expected number of SPTs, and over 400-fold the expected number of osteosarcomas. The risk of SPT in the absence of radiotherapy and chemotherapy (inherent risk) following genetic retinoblastoma was 13-fold expected and over 200-fold the expected number of osteosarcomas were observed. There was evidence that both radiotherapy and cyclophosphamide were associated with an increased risk of SPT.After all first primary tumours (FPTs) excluding retinoblastoma we observed almost 5-fold the expected number of SPTs. The inherent risk was 4-fold expected, the relative risks associated with radiotherapy but no chemotherapy, and both radiotherapy and chemotherapy were 6-and 9-fold expected respectively. There were about 20-fold the number of malignant bone tumours expected, most were osteosarcoma; also 7-fold the number of central nervous system tumours expected. There were 8 basal cell carcinomas and it seems likely that radiotherapy was involved in the development of some of these. Radiotherapy appears to have been involved in the development of many of the SPTs observed following all FPTs excluding retinoblastoma, particularly after CNS tumours, Wilms' tumour and Hodgkin's disease. Currently there is insufficient followup to examine the risk following chemotherapy. After acute leukaemia there was 20-fold the expected number of central nervous system tumours, though this is based on only 3 cases; whether therapy is directly involved in their development is uncertain.The risks we report are rarely greater than those reported in previous large-scale studies; in most instances they are substantially less. It is very unlikely that many SPTs were missed with our follow-up system so alternative explanations require further investigation; in particular it is possible the lower risks in our data compared to series treated in the United States may be explained, in part, by less combination therapy and lower doses of radiotherapy.At least half of the children who develop cancer now survive beyond three years (Stiller, pers. comm.); thus we expect in excess of 600 such survivors each year from among individuals currently treated in Britain. The intensive therapy given to achieve the improvement in survival contributes towards late effects generally, and second primary tumours in particular. The duration of survival for many individuals includes the latent periods characteristic of radiation and chemical carcinogenesis (Boice, 1981

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Section: Discussionsupporting

confidence: 61%

Incidence of second primary tumours among childhood cancer survivors

Hawkins¹,

Draper²,

Kingston³

1987

Br J Cancer

317

133

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“…Childhood brain tumors (CBT) are the most common solid tumors in children, and are responsible for 24.2% of all childhood cancer deaths [Schoenberg et al, 1975a,b;Mulcahy and Harlan, 1976;Gold, 1980;Chaganti and German, 1985;Leviton, 19841. Genetic syndromes that predispose to various forms of CBT have been localized on different chromosomes: Gardners syndrome, associated with gliomas and medulloblastomas, on chromosome 5q [Todd et al, 1981;Lewis et al, 1983;Bodmer et al, 1987;Costa et al, 19871; von Recklinghausens neurofibromatosis (NF-I), associated with gliomas and occasionally medulloblastomas, on the centromeric region of chromosome 17 [Barker et al, 1987;Seizinger et al, 1987al; bilateral acoustic neurofibromatosis or NF-2 with meningiomas, bilateral acoustic neuromas, spinal neurofibromas, and occasionally gliomas, on chromosome 22 [Seizinger et al, 1987b;Wertelecki et al, 19881; tuberous sclerosis, with astrocytomas, on distal 9q [Kapp et al, 1967;Cooper, 1971;Fryer et al, 19871; and nevoid basal cell carcinoma syndrome (NBCCS), with medulloblastoma, possibly on chromosome l p [Neblett et al, 1971). Although the total burden attributable to heritable factors remains unknown, these studies suggest that genetic predisposing factors contribute to the etiology of CBT.…”

Section: Introductionmentioning

confidence: 99%

Genetic epidemiology of childhood brain tumors

Bondy

Lustbader

Buffler

et al. 1991

Genetic Epidemiology

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The study goal was to determine the genetic (heritable) contribution to childhood brain tumors (CBT) which cause nearly one quarter of all childhood cancer deaths. Their etiology remains unknown, but previous studies have suggested a proportion of CBT may be heritable. In this study we collected family histories of 243 confirmed CBT patients referred to The University of Texas M. D. Anderson Cancer Center between the years 1944 and 1983, diagnosed before age 15, and residents of the United States or Canada. Family histories were obtained for all the probands' first degree relatives (parents, siblings, and offspring) and extended to include selected second degree relatives (aunts, uncles, grandparents) using sequential sampling. To determine if these CBT families exhibited excess cancer, we compared their cancer experience to age-, race-, sex-, and calendar-year specific rates from the Connecticut Tumor Registry. No cancer excess was observed among 1,099 first and second degree relatives [39 cancers observed (O) and 44 expected (E) for a standardized incidence ratio (SIR) of 0.88]. For colon cancer, although small numbers, five cases were observed among the probands' first degree relatives with 1.6 expected, for a significant SIR of 3.10. Segregation analysis demonstrated that chance alone could not account for the observed cancer distribution with a multifactorial model providing the best overall explanation of the data. Overall, heredity played a role in the etiology of CBT in 4% of the study families: four (1.7%) due to known hereditary syndromes (nevoid basal cell carcinoma syndrome and von Recklinghausens neurofibromatosis--NF-1), four (1.7%) with multifactorial inheritance, and two additional families with cancers aggregating similar to the clinical criteria described for the Li-Fraumeni cancer family syndrome.

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“…5,9 However, if brain tumors appear first, colonic polyps tend to become symptomatic within 1 year. [10][11][12] Our patient had an unusual 12-year gap between the initial diagnosis of GBM and developing colon cancers. This length of survival following the diagnosis of GBM is exceptional.…”

Section: Discussionmentioning

confidence: 94%