Bloom syndrome complicated by colonic cancer in a young Tunisian woman

Benjazia, Elhem; Turki, Hajer; Atig, A.; Khalifa, M.; Létaief, A.; Bahri, F.; Braham, A.

doi:10.1016/j.clinre.2011.06.001

Cited by 6 publications

(6 citation statements)

References 9 publications

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“…About 12% of BS patients develop colorectal cancer, usually from the second decade of life and the median age at diagnosis is 35.4 years, similar to that occurring in patient of this report [8, 24]. German in 1997 analyzing the first 100 cases of cancer on the BSR found 13 cases of colorectal cancer, seven in proximal colon (cecum, ascending, hepatic flexure, and transverse) and six in distal colon (descending, sigmoid, and rectum) [6].…”

Section: Discussionsupporting

confidence: 80%

“…Different types of neoplasms are described in about 12% of patients. Acute leukemia and lymphomas seem to predominate in the first two decades of life and carcinomas, mainly located on gastrointestinal tract, more common after the second decade [24]. Tumors that are rare in the general population, such osteosarcoma, medulloblastoma, and Wilms' tumor are more common in patients with BS [9].…”

Section: Discussionmentioning

confidence: 99%

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Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome

Pinheiro

Rossi

Camargo

et al. 2016

Case Reports in Surgery

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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.

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Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome

Pinheiro

Rossi

Camargo

et al. 2016

Case Reports in Surgery

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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%

Primary Colonic Diffuse Large B-Cell Lymphoma in Bloom Syndrome

2022

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Bloom syndrome is an inherited disorder involving a characteristic phenotype of short stature, photosensitive rash, immunodeficiency, and an early predisposition to various cancers, including lymphoma and colorectal neoplasms. We present a patient with Bloom syndrome found to have a colonic mass secondary to diffuse large B-cell lymphoma highlighting the importance of cancer screening and surveillance in these patients.

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“…Childhood CRC can also represent a rare manifestation of other genetic syndromes, including familial adenomatous polyposis (FAP, caused by mutations in the APC gene), 34 as well as Peutz Jegher (STK11), 35 Bloom (BLM), 36 juvenile polyposis syndrome (SMAD4, BMPR1), 37 or even LFS/LFS-L. In each of these conditions, CRCs generally occur in adults.…”

Section: Colorectal Cancermentioning

confidence: 99%

Predisposition to Pediatric and Hematologic Cancers: A Moving Target

Malkin

Nichols

Zelley

et al. 2014

American Society of Clinical Oncology Educational Book

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Our understanding of hereditary cancer syndromes in children, adolescents, and young adults continues to grow. In addition, we now recognize the wide variation in tumor spectrum found within each specific cancer predisposition syndrome including the risk for hematologic malignancies. An increased understanding of the genetic mutations, biologic consequences, tumor risk, and clinical management of these syndromes will improve patient outcome. In this article, we illustrate the diversity of molecular mechanisms by which these disorders develop in both children and adults with a focus on Li-Fraumeni syndrome, hereditary paraganglioma syndrome, DICER1 syndrome, and multiple endocrine neoplasia syndrome. This is followed by a detailed discussion of adult-onset tumors that can occur in the pediatric population including basal cell carcinoma, colorectal cancer, medullary thyroid cancer, and adrenal cortical carcinoma, and the underlying hereditary cancer syndromes that these tumors could indicate. Finally, the topic of leukemia predisposition syndromes is explored with a specific focus on the different categories of syndromes associated with leukemia risk (genetic instability/DNA repair syndromes, cell cycle/differentiation, bone marrow failure syndromes, telomere maintenance, immunodeficiency syndromes, and transcription factors/pure familial leukemia syndromes). Throughout this article, special attention is made to clinical recognition of these syndromes, genetic testing, and management with early tumor surveillance and screening.

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Bloom syndrome complicated by colonic cancer in a young Tunisian woman

Cited by 6 publications

References 9 publications

Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome

Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome

Primary Colonic Diffuse Large B-Cell Lymphoma in Bloom Syndrome

Predisposition to Pediatric and Hematologic Cancers: A Moving Target

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