Multiple Neoplasia in a 15-year-old Girl With Familial Adenomatous Polyposis

Brasseur, Benoit; Dahan, Karin; Beauloye, Véronique; Blétard, Noëlla; Chantrain, Christophe; Dupont, Sophie; Guarin, Jean-Luc; Vermylen, Christiane; Brichard, Bénédicte

doi:10.1097/mph.0b013e3181984f91

Cited by 8 publications

(3 citation statements)

References 18 publications

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“…15 Recently, Brasseur and coworkers described a 15-year-old female patient with known FAP having papillary thyroid carcinoma, a meningeal low-grade myxoid tumor, and MBL. 16…”

Section: Discussionmentioning

confidence: 99%

Two Different Primary Brain Tumors, Glioblastoma Multiforme and Pituitary Adenoma, in Association with Colorectal Carcinoma – An Unusual Case of Nonfamilial Turcot's Syndrome?

Naydenov

Marinov

Nachev

2012

J Neurol Surg A Cent Eur Neurosurg

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“…15 Recently, Brasseur and coworkers described a 15-year-old female patient with known FAP having papillary thyroid carcinoma, a meningeal low-grade myxoid tumor, and MBL. 16…”

Section: Discussionmentioning

confidence: 99%

Two Different Primary Brain Tumors, Glioblastoma Multiforme and Pituitary Adenoma, in Association with Colorectal Carcinoma – An Unusual Case of Nonfamilial Turcot's Syndrome?

Naydenov

Marinov

Nachev

2012

J Neurol Surg A Cent Eur Neurosurg

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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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“… 1 - 3 While medulloblastoma and radiation-induced thyroid carcinoma have been reported in patients with familial adenomatous polyposis (FAP), radiation-induced soft tissue osteosarcoma has not been reported. 4 To our knowledge, no previous reports exist of 2 radiation-induced malignancies in patients with childhood medulloblastoma and FAP. More important, no recommendations exist for the management of cancer patients with germline APC gene mutations, particularly concerning postoperative radiotherapy.…”

Section: Introductionmentioning

confidence: 98%

Two Metachronous Neoplasms in the Radiotherapy Fields of a Young Man With Familial Adenomatous Polyposis

Williams

Bhaijee

Rezeanu

et al. 2013

Journal of Investigative Medicine High Impact Case Reports

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Background: It is recognized that various radiation-induced malignancies often follow childhood radiotherapy. Radiation-induced neoplasms have been shown to occur with increased frequency in syndromes due to mutated tumor suppressor genes. There exist no recommendations for the management of cancer patients with germline APC gene mutations. Preclinical data suggest that APC gene mutations cause enhanced radiosensitivity, but no clinical observations exist that show that patients with this mutation are at higher risk for radiation-induced malignancies. Results: We report the case of a 32-year-old man with a genetic diagnosis of familial adenomatous polyposis (FAP) who initially presented at age 10 with a medulloblastoma treated with radiotherapy and surgery. Radiation-induced papillary thyroid carcinoma followed 13 years later. Finally, radiation-induced soft tissue osteosarcoma occurred with widespread metastasis 20 years thereafter. Conclusions: This is the first report of 2 malignancies in the prior radiotherapy fields of a patient with a genetic diagnosis of FAP. More important, this suggests that APC-defective cells are at an enhanced sensitivity to the carcinogenic effects of radiotherapy compared with APC-proficient cells. This could argue for genetic screening in affected members of these families and for creation of treatment recommendations to more seriously consider the risks of radiation therapy.

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Multiple Neoplasia in a 15-year-old Girl With Familial Adenomatous Polyposis

Cited by 8 publications

References 18 publications

Two Different Primary Brain Tumors, Glioblastoma Multiforme and Pituitary Adenoma, in Association with Colorectal Carcinoma – An Unusual Case of Nonfamilial Turcot's Syndrome?

Two Different Primary Brain Tumors, Glioblastoma Multiforme and Pituitary Adenoma, in Association with Colorectal Carcinoma – An Unusual Case of Nonfamilial Turcot's Syndrome?

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

Two Metachronous Neoplasms in the Radiotherapy Fields of a Young Man With Familial Adenomatous Polyposis

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