Familial adenomatous polyposis with synchronous invasive colonic carcinomas and metastatic jejunal adenocarcinoma in a Nigerian male

Osuagwu, Chukwuemeka; Okafor, Okechukwu Charles; Ezeome, Emmanuel; Uche, Chrisogonus Ezenwa; Ememonu, Charles Ifeanyi; Kesieme, Emeka B.

doi:10.4081/rt.2010.e66

Cited by 4 publications

(3 citation statements)

References 10 publications

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“…Germline mutations in APC are also key factors in familial adenomatous polyposis syndrome. This syndrome is quasi-nonexistent in African populations, with only a few cases having ever been reported in the literature [54][55][56][57][58][59][60][61][62][63]. Mutations in the APC gene in CRC have been reported in more than 50% of cases [44].…”

Section: New Mutations In the Apc Genementioning

confidence: 99%

Clinicopathological Characteristics and Mutational Landscape of APC, HOXB13, and KRAS among Rwandan Patients with Colorectal Cancer

Manirakiza

Rutaganda

Yamada

et al. 2023

CIMB

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Cancer research in Rwanda is estimated to be less than 1% of the total African cancer research output with limited research on colorectal cancer (CRC). Rwandan patients with CRC are young, with more females being affected than males, and most patients present with advanced disease. Considering the paucity of oncological genetic studies in this population, we investigated the mutational status of CRC tissues, focusing on the Adenomatous polyposis coli (APC), Kirsten rat sarcoma (KRAS), and Homeobox B13 (HOXB13) genes. Our aim was to determine whether there were any differences between Rwandan patients and other populations. To do so, we performed Sanger sequencing of the DNA extracted from formalin-fixed paraffin-embedded adenocarcinoma samples from 54 patients (mean age: 60 years). Most tumors were located in the rectum (83.3%), and 92.6% of the tumors were low-grade. Most patients (70.4%) reported never smoking, and 61.1% of patients had consumed alcohol. We identified 27 variants of APC, including 3 novel mutations (c.4310_4319delAAACACCTCC, c.4463_4470delinsA, and c.4506_4507delT). All three novel mutations are classified as deleterious by MutationTaster2021. We found four synonymous variants (c.330C>A, c.366C>T, c.513T>C, and c.735G>A) of HOXB13. For KRAS, we found six variants (Asp173, Gly13Asp, Gly12Ala, Gly12Asp, Gly12Val, and Gln61His), the last four of which are pathogenic. In conclusion, here we contribute new genetic variation data and provide clinicopathological information pertinent to CRC in Rwanda.

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Section: New Mutations In the Apc Genementioning

confidence: 99%

Clinicopathological Characteristics and Mutational Landscape of APC, HOXB13, and KRAS among Rwandan Patients with Colorectal Cancer

Manirakiza

Rutaganda

Yamada

et al. 2023

CIMB

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“…reporting of such a case in an African American male [ 6 ]. Four cases have been previously reported in a Nigerian population [ 7 ], but this is the first of its kind in a Ghanaian population to the best of our knowledge.…”

Section: Discussionmentioning

confidence: 98%

Familial adenomatous polyposis: a case study

Yorke

Yamoah

Awoonor‐Williams

et al. 2020

Journal of Surgical Case Reports

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Familial adenomatous polyposis (FAP) is an inherited syndrome characterized by several adenomatous polyps of the gastrointestinal (GI) mucosa. If treatment is not provided, an average individual with classic FAP will develop colorectal carcinoma around the age of 40 years. The incidence rate of FAP in developing countries like Ghana is unknown compared to advanced countries. We present the first FAP case of a 22-year-old Ghanaian female who presented with massive lower GI bleeding and underwent surgical management after a thorough investigation. The initial assumption that colonic polyps are scarce in native Africans may be more than what is perceived. This highlights the need for the availability of endoscopic services in Ghana.

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“…From 1992 to 2010, at least five reports were published in some peer-reviewed journals of patients who had features of multiple adenomatous polyposis. 38 39 40 41 42 …”

Section: E Mergence Of P Olyps In mentioning

confidence: 99%

Emergence of colorectal cancer in West Africa: Accepting the inevitable

Irabor

2017

Niger Med J

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It seems not too long ago that colon and rectal cancer is a “rare” disease in rural Africa; however, over the last 30 years in West Africa, published evidence has shown decade by decade increases in the incidence of colorectal cancer (CRC). Therefore, CRC should now be accepted as a recognized disease in native Africans; nevertheless, we must acknowledge that the incidence is a fraction of what obtains in the developed countries of Europe and America. This presentation will attempt to examine the emergence of CRC within the West African axis over the last four decades.

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Familial adenomatous polyposis with synchronous invasive colonic carcinomas and metastatic jejunal adenocarcinoma in a Nigerian male

Cited by 4 publications

References 10 publications

Clinicopathological Characteristics and Mutational Landscape of APC, HOXB13, and KRAS among Rwandan Patients with Colorectal Cancer

Clinicopathological Characteristics and Mutational Landscape of APC, HOXB13, and KRAS among Rwandan Patients with Colorectal Cancer

Familial adenomatous polyposis: a case study

Emergence of colorectal cancer in West Africa: Accepting the inevitable

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