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

Manirakiza, Felix; Rutaganda, Eric; Yamada, Hidetaka; Iwashita, Yuji; Rugwizangoga, Belson; Seminega, Benoit; Dusabejambo, Vincent; Ntakirutimana, Gervais; Ruhangaza, Deogratias; Uwineza, Annette; Shinmura, Kazuya; Sugimura, Haruhiko

doi:10.3390/cimb45050277

Cited by 4 publications

(3 citation statements)

References 75 publications

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“…Our finding that a majority of CRC patients at KFH were male contrasts with previous authors in Rwanda, who found a higher CRC incidence in female patients [ 24 – 26 ]. However, ‘it is in keeping’ with or ‘it supports’ previous findings in SSA of higher incidence of CRC in males, highlighting a difference between the patient populations served by different hospitals within Rwanda providing cancer care [ 3 , 4 ].…”

Section: Discussioncontrasting

confidence: 99%

“…This could be because they are easier to investigate and diagnose, possibly due to being more accessible. Additionally, rectal tumours on the left side may show more symptoms, prompting patients to seek treatment earlier [ 4 , 26 ]. Therapy responses vary greatly by tumour entity and location.…”

Section: Discussionmentioning

confidence: 99%

“…CRC caused an estimated 265 deaths in Rwanda in 2020, accounting for 4.4% of total cancer deaths in Rwanda that year [23]. Previous studies have shown that CRC patients presenting in Rwanda tend to be younger than in other regions outside of SSA, are more likely to be females, and are diagnosed with advanced disease [24][25][26].…”

Section: Introductionmentioning

confidence: 99%

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Colorectal cancer disease profile and treatment patterns at an urban tertiary hospital in Rwanda

Baldwin,

Niyibizi,

Rangira

et al. 2024

ecancer Journal

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Background The incidence of colorectal cancer (CRC) in sub-Saharan Africa (SSA) is rising, due to improving cancer registration efforts on one hand and an increasing westernisation of diets and lifestyle on the other as well as increasing rates of comorbidities. Methods We present data for the clinical characteristics, pathology, treatments received, and survival outcomes of patients diagnosed with CRC at King Faisal Hospital (KFH) between January 2019 and May 2023. KFH is an urban tertiary hospital in Rwanda that provides chemotherapy and surgery to cancer patients. The data were extracted from electronic medical records, imaging and histopathology reports from the patient’s time of diagnosis. We plotted Kaplan–Meier estimation of survival, defined as the time from presentation to death, within the study period (2019–2023). Results Seventy-four patients diagnosed with CRC with complete information were identified in the KFH oncology records. The mean age at diagnosis was 54.6 years, with ages ranging between 22 and 81 years. At diagnosis, 24 (32.4%) patients were less than 50 years old and 29 (39.2%) were females. The rectum (36.5%) was the most common tumour location, and 58.1 tumours were left-sided. Most patients presented with Stage III (41.9%) or IV (35.1%) disease. Adenocarcinoma was the most common histological type (98.6%) including adenocarcinoma not otherwise specified (NOS) (86.5%), mucinous adenocarcinoma (10.8%), signet ring cell carcinoma (1.4%) and followed by squamous cell carcinoma (1.4%). In terms of treatment, 19 (25.7%) patients received only chemotherapy, 43 (58.1%) patients received neo-adjuvant or adjuvant chemotherapy, 9 (12.2%) of patients received both neo-adjuvant and adjuvant chemotherapy, 49 patients (66.2%) underwent surgery and 17 (23%) patients also received radiation. At the end of the follow up period, 63 (85.1%) patients remained in surveillance, 10 (13.5%) patients died, and 1 (1.3%) patient was lost to follow up. Mean overall survival was 45.5 (SD ± 2.0) months. Conclusion CRC patients presented at an advanced stage and required complex treatment regimens at KFH. Further epidemiologic and molecular research is needed to characterise CRC incidence and presentation at a national level in Rwanda as increasing westernisation continues to change the face of CRC in urban areas of SSA.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Colorectal cancer disease profile and treatment patterns at an urban tertiary hospital in Rwanda

Baldwin,

Niyibizi,

Rangira

et al. 2024

ecancer Journal

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Determination of the frequency and distribution of APC, PIK3CA, and SMAD4 gene mutations in Ugandan patients with colorectal cancer

Wismayer,

Matthews,

Whalley

et al. 2024

BMC Cancer

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Uganda is a developing low-income country with a low incidence of colorectal cancer, which is steadily increasing. Ugandan colorectal cancer (CRC) patients are young and present with advanced-stage disease. In our population, there is a scarcity of genetic oncological studies, therefore, we investigated the mutational status of CRC tissues, focusing in particular on the adenomatous polyposis coli (APC), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA), and SMAD4 genes. Our objective was to determine whether there were any differences between other populations and Ugandan patients. We performed next-generation sequencing on the extracted DNA from formalin-fixed paraffin-embedded adenocarcinoma samples from 127 patients (mean (SD) age: 54.9 (16.0) years; male:female sex ratio: 1.2:1). Most tumours were located in the rectum 56 (44.1%), 14 (11%) tumours were high grade, and 96 (75.6%) were moderate grade CRC. Stage III + IV CRC tumours were found in 109 (85.8%) patients. We identified 48 variants of APC, including 9 novel APC mutations that were all pathogenic or deleterious. For PIK3CA, we found 19 variants, of which 9 were deleterious or pathogenic. Four PIK3CA novel pathogenic or deleterious variants were included (c.1397C > G, c.2399_2400insA, c.2621G > C, c.2632C > G). Three SMAD4 variants were reported, including two pathogenic or deleterious variants (c.1268G > T, c.556dupC) and one tolerant (c.563A > C) variant. One novel SMAD4 deleterious mutation (c.1268G > T) was reported. In conclusion, we provide clinicopathological information and new genetic variation data pertinent to CRC in Uganda.

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TP53 mutation status and consensus molecular subtypes of colorectal cancer in patients from Rwanda

Nzitakera,

Uwamariya,

Kato

et al. 2024

BMC Cancer

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

Cited by 4 publications

References 75 publications

Colorectal cancer disease profile and treatment patterns at an urban tertiary hospital in Rwanda

Colorectal cancer disease profile and treatment patterns at an urban tertiary hospital in Rwanda

Determination of the frequency and distribution of APC, PIK3CA, and SMAD4 gene mutations in Ugandan patients with colorectal cancer

TP53 mutation status and consensus molecular subtypes of colorectal cancer in patients from Rwanda

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