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 2 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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The spectrum of TP53 mutations in Rwandan patients with gastric cancer

Nzitakera,

Surwumwe,

Ndoricyimpaye

et al. 2024

Genes and Environ

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Background Gastric cancer is the sixth most frequently diagnosed cancer and third in causing cancer-related death globally. The most frequently mutated gene in human cancers is TP53, which plays a pivotal role in cancer initiation and progression. In Africa, particularly in Rwanda, data on TP53 mutations are lacking. Therefore, this study intended to obtain TP53 mutation status in Rwandan patients with gastric cancer. Results Formalin-fixed paraffin-embedded tissue blocks of 95 Rwandan patients with histopathologically proven gastric carcinoma were obtained from the University Teaching Hospital of Kigali. After DNA extraction, all coding regions of the TP53 gene and the exon–intron boundary region of TP53 were sequenced using the Sanger sequencing. Mutated TP53 were observed in 24 (25.3%) of the 95 cases, and a total of 29 mutations were identified. These TP53 mutations were distributed between exon 4 and 8 and most of them were missense mutations (19/29; 65.5%). Immunohistochemical analysis for TP53 revealed that most of the TP53 missense mutations were associated with TP53 protein accumulation. Among the 29 mutations, one was novel (c.459_477delCGGCACCCGCGTCCGCGCC). This 19-bp deletion mutation in exon 5 caused the production of truncated TP53 protein (p.G154Wfs*10). Regarding the spectrum of TP53 mutations, G:C > A:T at CpG sites was the most prevalent (10/29; 34.5%) and G:C > T:A was the second most prevalent (7/29; 24.1%). Interestingly, when the mutation spectrum of TP53 was compared to three previous TP53 mutational studies on non-Rwandan patients with gastric cancer, G:C > T:A mutations were significantly more frequent in this study than in our previous study (p = 0.013), the TCGA database (p = 0.017), and a previous study on patients from Hong Kong (p = 0.006). Even after correcting for false discovery, statistical significance was observed. Conclusions Our results suggested that TP53 G:C > T:A transversion mutation in Rwandan patients with gastric cancer is more frequent than in non-Rwandan patients with gastric cancer, indicating at an alternative etiological and carcinogenic progression of gastric cancer in Rwanda.

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

Cited by 2 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

The spectrum of TP53 mutations in Rwandan patients with gastric cancer

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