2016
DOI: 10.1155/2016/3176842
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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 … Show more

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Cited by 4 publications
(2 citation statements)
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“…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.…”
Section: Discussionmentioning
confidence: 99%
“…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.…”
Section: Discussionmentioning
confidence: 99%
“…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 …”
Section: Discussionmentioning
confidence: 99%