Evaluation of Guidelines for Management of Familial Adenomatous Polyposis in a Multicenter Pediatric Cohort

Munck, À.; Gargouri, L.; Alberti, Corinne; Viala, Jérôme; Lenaerts, C; Michaud, Laurent; Lamireau, T.; Mougenot, J F; Dabadie, A.; Maurage, C.; Lachaux, A.; Scaillon, Michèle; Languepin, J.; Spyckerelle, C.; Meyer, Martine De; Olschwang, Sylvianne

doi:10.1097/mpg.0b013e3182198f4d

Cited by 23 publications

(20 citation statements)

References 38 publications

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“…In the diagnosis of adenomatous polyps in this case series, the patients were asymptomatic in most cases and were submitted to a colonoscopy due to a family history of PAF, which is in accordance with findings reported in the literature (12,28) . Patients with PAF were asymptomatic within the pediatric age group, with only rare symptomatic cases before the second decade of life (10,11) , when the main manifestation appears as intermittent rectal bleeding, followed by abdominal pain, anemia, and diarrhea, which is similar to that found in the present case series.…”

Section: Discussionsupporting

confidence: 79%

Clinical, Epidemiologic, and Endoscopic Profile in Children and Adolescents With Colonic Polyps in Two Reference Centers

Andrade

Ferreira

Bittencourt

et al. 2015

Arq. Gastroenterol.

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-Background -The main goal of this paper is to investigate the frequency, clinical profile, and endoscopic findings of children and teenagers submitted to colonoscopies. Methods -Patients of below 18 years of age, diagnosed with polyps by means of colonoscopies at two reference centers of pediatric endoscopy were followed-up between 2002 and 2012. The clinical variables evaluated in this study included: gender, recommendation of colonoscopy, associated signs and symptoms, age of onset of symptoms, age at identification of the polyp, interval of time between the onset of symptoms and the endoscopic diagnosis of colonic polyps, and family history of intestinal polyposis and/or colorectal cancer. The characteristics of the polyps also included: number, morphological type, histology, and distribution. Polyposis syndromes were also investigated. Results -From the 233 patients submitted to colonoscopies, polyps were found in 74 (31.7%) patients, with a median age of 6.6 years, of which 61% were male. Juvenile polyps were identified in 55 (74%) patients, with 7 (9%) characterized within the criteria for juvenile polyposis. Patients with intestinal polyposis syndromes were diagnosed in 35% of the patients. The most frequent clinical presentation was hematochezia. Abdominal pain with acute episodes of intestinal partial obstruction or intussusception with emergency laparotomy was observed in the majority of Peutz-Jeghers syndrome patients leading to an increased morbidity. Conclusions -Even though juvenile colonic polyps are the most frequent type of diagnosed polyps, the present study identified a significant level of children with polyposis syndromes (35%), associated with a higher morbidity of these individuals.

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Section: Discussionsupporting

confidence: 79%

Clinical, Epidemiologic, and Endoscopic Profile in Children and Adolescents With Colonic Polyps in Two Reference Centers

Andrade

Ferreira

Bittencourt

et al. 2015

Arq. Gastroenterol.

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“…By age 20, most patients have at least 1 adenomatous polyp; by age 50, most have developed adenocarcinoma [44]. Thus, the recommended treatment for FAP is prophylactic colectomy in young adulthood [45]. …”

Section: Introductionmentioning

confidence: 99%

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines

Cruz‐Correa

Pérez-Mayoral

Dutil

et al. 2017

Hered Cancer Clin Pract

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Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the incidence of hereditary cancers is low, patients diagnosed with hereditary cancer syndromes are at high-risk for developing secondary cancers. Furthermore, the productivity loss that occurs after cancer diagnosis in these high-risk patients has a negative socio-economic impact. This review summarizes the genetic basis, phenotype characteristics, and the National Comprehensive Cancer Network’s screening, testing, and surveillance guidelines for the leading hereditary cancer syndromes. The aim of this review is to promote a better understanding of cancer genetics and genetic testing in Hispanic patients.

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“…A large case series also showed the importance of surveillance in paediatric FAP carriers of whom a considerable proportion with malignancies required treatment. 15 The choice of using invasive prenatal procedures or postnatal cord blood testing to confirm a PGD diagnosis depends on discussion between the couple and the multidisciplinary team about the variable presentation of different syndromes.…”

Section: Discussionmentioning

confidence: 99%

Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience

et al. 2016

Hong Kong Med J

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A 33-year-old woman was referred for consideration of PGD because she was a BRCA2 gene mutation carrier. She had cancer of the right breast at the age of 24 years and underwent modified radical mastectomy with axillary dissection and immediate latissimus dorsi flap reconstruction. Adjuvant chemoradiotherapy was given and she was prescribed tamoxifen for 5 years after the operation. Her paternal grandmother had breast cancer diagnosed at the age of 60 years. Genetic screening was performed and confirmed the patient to be a BRCA2 mutation carrier. Her elder brother and her father underwent the spot test and were found to carry a BRCA2 mutation but her younger sister was not affected. Laparoscopic ovarian cystectomy was performed for a hyperechoic cyst noted over the right ovary, which was confirmed to be an endometriotic cyst. After a multidisciplinary meeting of clinical geneticists, breast surgeons, oncologists, gynaecologists, psychologists, nurses, and academics in the ethics department, followed by psychological assessment and also counselling, she was offered in-vitro fertilisation (IVF) and PGD. Her IVF and PGD cycle was performed in 2011, using an antagonist protocol with letrozole co-treatment. Fifteen oocytes were retrieved and 12 were fertilised following intracytoplasmic sperm injection (ICSI). Blastomere biopsy was performed on eight goodquality cleaving embryos and five were confirmed to be free of the BRCA2 mutation. Two unaffected blastocysts were transferred, resulting in a singleton pregnancy and one unaffected blastocyst was cryopreserved. She delivered a baby boy at term by caesarean section. Postnatal cord blood confirmed that the baby boy did not carry the BRCA2 mutation. Case 2A 33-year-old woman was referred for PGD because she was a carrier of FAP truncating germline mutation APC c.532-8G>A (NG_008481:g93262G>A) with a strong family history of colonic cancer. She underwent colonoscopy surveillance and more than 100 small colonic polyps were found. She was advised to have a prophylactic colectomy but was firm in her request to get pregnant with PGD treatment before the definitive treatment while fully understanding the risks of malignancy because of the delay in definitive treatment. She underwent an IVF cycle in 2012. Of 19 oocytes retrieved, 16 underwent ICSI. Fifteen were fertilised and 15 embryos were available for blastomere biopsy on day 3. Five embryos were found without the FAP mutation and four goodquality blastocysts were cryopreserved due to the risk of ovarian hyperstimulation syndrome. She failed to conceive in two frozen embryo transfer (FET) cycles with one blastocyst replaced in each cycle. She subsequently underwent the last FET cycle with two blastocysts transferred, and a consequent singleton pregnancy. The pregnancy is 26 weeks' gestation at the time of writing. The couple refused an invasive prenatal test and requested postnatal cord blood confirmation. Case 3A 37-year-old patient was referred from a clinical geneticist for PGD as her husband was diagnosed to have neuro...

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Evaluation of Guidelines for Management of Familial Adenomatous Polyposis in a Multicenter Pediatric Cohort

Abstract: Defining optimal screening and therapeutic modalities in pediatric FAP cohorts is a challenge. Specific advice for genetic screening, endoscopy surveillance, and type of surgery based on recent guidelines is recommended.

Cited by 23 publications

References 38 publications

Clinical, Epidemiologic, and Endoscopic Profile in Children and Adolescents With Colonic Polyps in Two Reference Centers

Clinical, Epidemiologic, and Endoscopic Profile in Children and Adolescents With Colonic Polyps in Two Reference Centers

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines

Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience

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