Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome

Abstract

Introduction. Bloom syndrome (BS) is an inherited disorder due to mutation in BLM gene. The diagnosis of BS should be considered in patients with growth retardation of prenatal onset, a photosensitive rash in a butterfly distribution over the cheeks, and an increased risk of cancer at an early age. Clinical manifestations also include short stature, dolichocephaly, prominent ears, micrognathia, malar hypoplasia and a high-pitched voice, immunodeficiency, type II diabetes, and hypogonadism associated with male infertility and female subfertility. The aim of this report is to describe case of patient with BS who developed adenocarcinoma of the cecum, successfully treated by right colectomy. Case Report. A 40-year-old man underwent colonoscopy to investigate the cause of his diarrhea, weight loss, and anemia. The patient knew that he was a carrier of BS diagnosed at young age. The colonoscopy showed an expansive and vegetating mass with 5.5 cm in diameter, located within the ascending colon. Histopathological analysis of tissue fragments collected during colonoscopy confirmed the presence of tubular adenocarcinoma, and he was referred for an oncological right colectomy. The procedure was performed without complications, and the patient was discharged on the fifth postoperative day. Histopathological examination of the surgical specimen confirmed the presence of a grade II tubular adenocarcinoma (stage IIA). The patient is currently well five years after surgery, without clinical or endoscopic signs of relapse in a multidisciplinary approach for the monitoring of comorbidities related to BS. Conclusion. Despite the development of colorectal cancer to be, a possibility rarely described the present case shows the need for early screening for colorectal cancer in all patients affected by BS.

Primary Colonic Diffuse Large B-Cell Lymphoma in Bloom Syndrome

“…From a gastroenterology perspective, various case reports of colorectal adenocarcinoma in patients with Bloom syndrome have been reported. 5,6 Case reports of lymphomatous neoplasms have been described in the literature and via the Bloom syndrome registry. 3,4,[7][8][9] However, this case report of a primary colonic diffuse large B-cell lymphoma in a patient with Bloom syndrome is the first described, to our knowledge.…”

Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome

“…This case highlights the importance of ruling out genetic instability syndromes in patients presenting with lymphoma and physical features such as short stature, microcephaly, and café au lait spots. Early surveillance of these patients is required since they are at a substantially higher risk, up to 300 times higher compared to the general population, of developing malignancies …”