Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2‐year‐old girl with familial adenomatous polyposis

Silva, Deepthi C. de; Wright, M; Stevenson, David A.; Clark, Caroline; Gray, Elizabeth; Holmes, John; Dean, John; Haites, Neva Elizabeth; Dunlop, Malcolm

doi:10.1002/(sici)1097-0142(19960301)77:5<972::aid-cncr25>3.0.co;2-#

Cited by 17 publications

(6 citation statements)

References 14 publications

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“…Although both families presented with the same germline 2‐bp deletion (AG) at codon 1465, a second ‘hit’ inactivation of the APC gene was probably necessary for desmoid tumour development as previously published [34,35]. In our families, even if the first ‘hit’ is identical, there is no evidence for a common nature of the second ‘hit’.…”

Section: Resultssupporting

confidence: 63%

Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

et al. 2001

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We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli (APC) gene, but showed phenotypic variability. The mutation was revealed by a simple nonradioactive method using a heteroduplex analysis and identified by a sequence analysis. This observation suggests the responsibility of modifier genes in FAP patients' phenotype.

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Section: Resultssupporting

confidence: 63%

Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

et al. 2001

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“…In the very rare cases of temporal muscle [33,34,57] or scalp [58,62] DTs neurosurgical aid for excision might be asked.…”

Section: Primary Head and Neck Dts With An Intracranial Extension Thrmentioning

confidence: 99%

Desmoid tumors in neurosurgery: A review of the literature

Vloo

Vlieger

Poorten

et al. 2015

Clinical Neurology and Neurosurgery

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“…The most common brain tumors in FAP are medulloblastomas, as in the Turcot's syndrome variant of FAP, but ependymomas might also occur. FAP patients are also at increased risk for desmoid tumors [14][15][16][17][18][19][20][21].…”

Section: Extremely Early Onset Of Cancers In Fapmentioning

confidence: 99%

FAP, gastric cancer, and genetic counseling featuring children and young adults: a family study and review

et al. 2010

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Familial adenomatous polyposis is a highly complex and multifaceted colorectal cancer prone disorder which is often significantly confounded by extracolonic cancers inclusive of gastric cancer, a significant problem in the Orient. Gastric cancer in familial adenomatous polyposis is heavily influenced by fundic gland polyps which are often so voluminous as to defy effective endoscopic surveillance. This study involves more than two decades of investigation of an attenuated familial adenomatous polyposis family where gastric cancer posed an early diagnostic problem because it was obscured by multiple fundic gland polyps. Fundic gland polyps are common in familial adenomatous polyposis and attenuated familial adenomatous polyposis and, if voluminous, may interfere with effective endoscopic gastric cancer surveillance. This family is believed to be the first of its type reported with focus upon education and genetic counseling in the setting of a family information service. Cancer control in familial adenomatous polyposis may be partially resolved through use of familial colorectal cancer registries, with greater attention to family history and its interpretation, genetic counseling, and clinical translation for diagnosis and management.

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Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2‐year‐old girl with familial adenomatous polyposis

Abstract: These findings are compatible with the presence of a "second hit" inactivation of the APC gene and implicate this gene in the pathogenesis of desmoid tumors.

Cited by 17 publications

References 14 publications

Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

Desmoid tumors in neurosurgery: A review of the literature

FAP, gastric cancer, and genetic counseling featuring children and young adults: a family study and review

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