RESUMEN
BACKGROUND: Trisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. It is clear that providers should suspect unusual malignancies in these patients, particularly as they age. CASE PRESENTATION: We report a 20-year-old Caucasian woman with Trisomy 13 who presented with colonic volvulus, found to have colonic polyposis and adenocarcinoma of the colon. Genetics of pathology specimens revealed 47(XX) + 13 without other mutations. She underwent prophylactic completion colectomy due to presumed risk of colorectal cancers given underlying adenomatous polyposis. She has recovered well without evidence of recurrence. CONCLUSIONS: The presence of colonic polyposis and colorectal cancer without family history or known mutations for polyposis syndrome suggests an intrinsic predisposition toward colorectal cancer in this patient with Trisomy 13. Recent research into colorectal cancer oncogenes supports that aneuploidy or increased copy number of certain genes on chromosome 13 may increase the risk of malignant transformation. This is an important correlation for researchers studying these topics and clinicians caring for patients with Trisomy 13 as they age.
Asunto(s)
Adenocarcinoma/complicaciones , Poliposis Adenomatosa del Colon/complicaciones , Neoplasias del Colon/complicaciones , Neoplasias Colorrectales/complicaciones , Proctocolectomía Restauradora , Choque Séptico/tratamiento farmacológico , Síndrome de la Trisomía 13/complicaciones , Abdomen Agudo/diagnóstico por imagen , Abdomen Agudo/patología , Adenocarcinoma/diagnóstico por imagen , Adenocarcinoma/genética , Adenocarcinoma/terapia , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Poliposis Adenomatosa del Colon/genética , Poliposis Adenomatosa del Colon/terapia , Antibacterianos/uso terapéutico , Neoplasias del Colon/diagnóstico por imagen , Neoplasias del Colon/genética , Neoplasias del Colon/terapia , Neoplasias Colorrectales/diagnóstico por imagen , Neoplasias Colorrectales/genética , Neoplasias Colorrectales/terapia , Femenino , Predisposición Genética a la Enfermedad , Humanos , Recurrencia Local de Neoplasia , Vólvulo Gástrico/diagnóstico por imagen , Vólvulo Gástrico/patología , Resultado del Tratamiento , Adulto JovenRESUMEN
Colorectal cancer begins as a polyp that is a benign growth on the mucosal surface of the colon or rectum. Over a period of 5 to 15 years, polyps can degenerate into a cancer, thus invading the colonic wall. Colorectal screening methods are designed to diagnose and remove polyps before they acquire invasive potential and develop into cancer. Screening for colorectal cancer can prevent and reduce mortality. Given the benefits and effectiveness of screening, guidelines exist from multiple organizations. These guidelines risk-stratify patients to determine the age of screening initiation and the interval for repeat screening. Categories of colorectal cancer risk include average risk, increased risk, and high risk based on individual and family medical history. Screening methods vary widely in the ability to diagnose and treat polyps and in the degree of invasiveness or risk of complication to the patient. Colonoscopy is held as the "gold standard" by which all other methods are compared; however, less-invasive modalities including computed tomographic colonography are increasing in popularity.
