Colonic adenocarcinoma in a 13-year-old with cystic fibrosis

Ibele, Anna; Koplin, Stephanie A.; Slaughenhoupt, Bruce L.; Kryger, John V.; Friedl, Andreas; Lund, Dennis P.

doi:10.1016/j.jpedsurg.2007.07.024

Cited by 13 publications

(11 citation statements)

References 12 publications

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“…There is an increased risk of gastrointestinal cancers in CF patients, of which colon cancer is the most prevalent (Neglia et al., ). Some case reports have described CF patients developing colon cancer at relatively young ages (Ibele et al., ; McKenna, Mulcahy, & Waldron, ). In the light of these studies, detection of malignancy in three of our patients at a young age during follow‐up and detection of the CFTR gene mutation in the genetic evaluation of two of these patients suggests that this situation may not be accidental.…”

Section: Discussionmentioning

confidence: 99%

Comorbidity of the congenital absence of the vas deferens

et al. 2018

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Congenital absence of the vas deferens (CAVD) is a relatively rare anomaly that may contribute to male infertility. The aim of this study was to evaluate the clinical features of patients with CAVD and to emphasise some pathological conditions that may be detected during the infertility work-up or follow-up of these patients. The charts of 150 males with the diagnosis of CAVD were evaluated retrospectively. The demographic characteristics, reasons for attendance, the way of diagnosis, interventions for infertility before and after attendance, physical examination findings, reproductive hormone levels, semen analysis results, genetical analysis results and resultant live birth events were all included in the study. There were 101 bilateral and 43 unilateral CAVD cases. Thirty-two males (30.2%) had some renal abnormalities. Two cases, one with bilateral and one with unilateral agenesis, died because of colon cancer at a young age. One case with CUAVD had acute lymphoblastic leukaemia. Congenital absence of the vas deferens should not be seen only as a fertility problem because of the many genotypic or phenotypic disorders that may be present with it. These disorders can cause serious general health problems either presently or in future and can also be transmitted to future generations.

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Section: Discussionmentioning

confidence: 99%

Comorbidity of the congenital absence of the vas deferens

et al. 2018

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“…Patients of age 13,18,30,31,31, and 41 at the time of diagnosis of colon cancer have been reported in the medical literature [7][8][9][10][11]. The risk for developing colon cancer at a young age may be increased for lung transplant recipients with CF due to impaired tumor surveillance as a consequence of the intense immunosuppression required to prevent lung allograft rejection.…”

Section: Discussionmentioning

confidence: 99%

“…The risk of gastrointestinal malignancy has been reported to be increased in patients with CF [6], and colonic adenocarcinoma has been reported in patients ranging in age from 13 to 41 [7][8][9][10][11]. Sustained, intense immunosuppression may also increase the risk of malignancy in lung transplant recipients.…”

Section: Introductionmentioning

confidence: 99%

Colon cancer in lung transplant recipients with CF: Increased risk and results of screening

Meyer

Francois

et al. 2011

Journal of Cystic Fibrosis

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In contrast to non-CF recipients, patients with CF displayed a significant incidence of colon cancer (4 of 70 recipients; 5.7%) with onset ranging from 246 days to 9.3 years post-transplant, which may be due to a combination of their underlying genetic disorder plus intense, sustained immunosuppression following lung transplantation. Colonoscopic screening may identify patients with pre-malignant colonic lesions and prevent progression to colonic malignancy.

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“…Case reports have described CF patients developing colon cancer at relatively young ages [40][41][42] ; meanwhile, the mechanism behind this phenomenon has also been investigated, and several speculations have been proposed. According to reports from different groups, Ras, PKC and interferon-gamma (IFN-γ) are involved in the down-regulation of CFTR in colonic ductal cells [39,[43][44][45] .…”

Section: Cftr and Gastrointestinal Cancermentioning

confidence: 99%

Emerging role of cystic fibrosis transmembrane conductance regulator - an epithelial chloride channel in gastrointestinal cancers

Hou

Guan

Yang

et al. 2016

WJGO

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Cystic fibrosis transmembrane conductance regulator (CFTR), a glycoprotein with 1480 amino acids, has been well established as a chloride channel mainly expressed in the epithelial cells of various tissues and organs such as lungs, sweat glands, gastrointestinal system, and reproductive organs. Although defective CFTR leads to cystic fibrosis, a common genetic disorder in the Caucasian population, there is accumulating evidence that suggests a novel role of CFTR in various cancers, especially in gastroenterological cancers, such as pancreatic cancer and colon cancer. In this review, we summarize the emerging findings that link CFTR with various cancers, with focus on the association between CFTR defects and gastrointestinal cancers as well as the underlying mechanisms. Further study of CFTR in cancer biology may help pave a new way for the diagnosis and treatment of gastrointestinal cancers.

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Colonic adenocarcinoma in a 13-year-old with cystic fibrosis

Cited by 13 publications

References 12 publications

Comorbidity of the congenital absence of the vas deferens

Comorbidity of the congenital absence of the vas deferens

Colon cancer in lung transplant recipients with CF: Increased risk and results of screening

Emerging role of cystic fibrosis transmembrane conductance regulator - an epithelial chloride channel in gastrointestinal cancers

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