Amoako Emmanuella, Amuzu Setor, Ofori Emmanuel Owusu, Akligoh Harry Sefoga, Tackie Randy, Ibrahim Barikisu Anna, Quaye Emmanuel Kofi, Akakpo Patrick Kafui, Aniakwo Luke Adagrah, Jimah Bashiro, Ulzen-Appiah Kofi, Hutchful David, Manu Aida, Ngoi Joyce M, Paemka Lily, Alhassan Yakubu, Obeng Ernest Amo, Lim Nicole, Rajah Lisa, Pek Michelle, Challis Jack, Rahman Ganiyu Adebisi, Tan Min-Han, Bediako Yaw
Yemaachi Biotech, 222 Swaniker Street, Accra, Ghana; Cape Coast Teaching Hospital, Cape Coast, Ghana; University of Cape Coast, School of Medical Sciences, Cape Coast, Ghana.
Yemaachi Biotech, 222 Swaniker Street, Accra, Ghana.
Transl Oncol. 2024 Nov;49:102100. doi: 10.1016/j.tranon.2024.102100. Epub 2024 Aug 16.
Breast cancer is a major cause of cancer-related mortality among African women. The adoption of molecular genomic technologies in the management of cancer cases is limited in Africa. To provide much-needed insights on the feasibility and utility of such precision medicine paradigms in Africa, we conducted a prospective, non-interventional study involving combined tissue and plasma Next-generation sequencing (NGS)-based testing in cancer patients in Ghana.
We recruited 20 newly diagnosed, histologically confirmed, treatment-naïve women with metastatic breast cancer at the Cape Coast Teaching Hospital in Ghana. Tissue (NGS) and cell-free DNA (cfDNA) liquid biopsy analysis were ordered on all 20 patients.
All 20/20 (100 %) liquid biopsy samples were acceptable for analysis, whereas only 6/20 (30 %) passed quality control for tissue NGS testing. Liquid biopsy detected 42 cfDNA mutations in 17/20 patients. Of the 17 patients, 3 (17.6 %) had mutations previously associated with African ancestry, including BRCA1 p.K719E, ARAF p.S262I and GATA3 p.G125dup. Eight potentially actionable alterations specific to breast cancer were found in 6/17 (35.3 %) liquid biopsy samples, while potentially actionable mutations non-specific to breast cancer were detected in 12/17 (70.6 %). Tissue biopsy analysis detected mutations in all 6 patients tested, with 3/6 (50 %) patients presenting potentially actionable mutations relevant to breast cancer.
Liquid biopsy detected multiple additional actionable variants in Ghanaian women with breast cancer. Plasma cfDNA analysis featured fewer variations in sample preparation which is a key consideration in resource-limited settings. Liquid biopsy presents a great opportunity to improve cancer care in Africa.
乳腺癌是非洲女性癌症相关死亡的主要原因。在非洲，分子基因组技术在癌症病例管理中的应用有限。为了深入了解这种精准医学模式在非洲的可行性和实用性，我们在加纳开展了一项前瞻性、非干预性研究，对癌症患者进行组织和血浆联合的基于二代测序（NGS）的检测。
我们在加纳海岸角教学医院招募了20名新诊断、经组织学确诊且未接受过治疗的转移性乳腺癌女性患者。对所有20名患者进行了组织（NGS）和游离DNA（cfDNA）液体活检分析。
所有20/20（100%）的液体活检样本均可用于分析，而只有6/20（30%）的组织NGS检测通过了质量控制。液体活检在17/20患者中检测到42个cfDNA突变。在这17名患者中，3名（17.6%）有先前与非洲血统相关的突变，包括BRCA1 p.K719E、ARAF p.S262I和GATA3 p.G125dup。在6/17（35.3%）的液体活检样本中发现了8个特定于乳腺癌的潜在可操作改变，而在12/17（70.6%）的样本中检测到了非特定于乳腺癌的潜在可操作突变。组织活检分析在所有6名检测患者中均检测到突变，其中3/6（50%）的患者存在与乳腺癌相关的潜在可操作突变。
液体活检在加纳乳腺癌女性患者中检测到多个额外的可操作变异。血浆cfDNA分析在样本制备方面的变异较少，这在资源有限的环境中是一个关键考虑因素。液体活检为改善非洲的癌症治疗提供了一个绝佳机会。
