Daniel-Abdool Melissa, Griffith Brandon, Bartels Ute, Bodkyn Curt, Dindial Kevon
Faculty of Medical Sciences, The University of the West Indies, St. Augustine, Trinidad and Tobago.
Division of Haematology/Oncology, Hospital for Sick Children (SickKids), Toronto, ON, Canada.
Front Oncol. 2024 Mar 14;14:1331271. doi: 10.3389/fonc.2024.1331271. eCollection 2024.
Medulloblastoma is the most common malignant pediatric brain tumor and has been linked to known cancer predisposition syndromes. We report a case of medulloblastoma of a 12-year-old Indo-Trinidadian female with a strong family history of colorectal carcinoma. In collaboration with the SickKids-Caribbean Initiative (SCI), her tumor was confirmed to be a WHO grade 4 medulloblastoma - Wnt subtype. Genetic testing further confirmed the presence of a pathogenic APC gene variant [c.3183_3187del (p.Gln1062*)] which led to a diagnosis of Turcot syndrome type 2. The index patient received multimodal therapy which included surgery, radiation and chemotherapy and is currently post end-of-treatment and in remission. This case report aims to highlight the complexity of diseases and the need for expertise in identifying them in low-and-middle income countries, the need for access to specialized testing and the benefits of collaborating between low-and-middle income and high-income countries when managing complex oncology patients.
髓母细胞瘤是最常见的儿童恶性脑肿瘤,且与已知的癌症易感综合征有关。我们报告了一例12岁印度裔特立尼达女性的髓母细胞瘤病例,其有结直肠癌的家族病史。通过与病童医院-加勒比倡议组织(SCI)合作,确诊其肿瘤为世界卫生组织4级髓母细胞瘤——Wnt亚型。基因检测进一步证实存在致病性APC基因变异[c.3183_3187del(p.Gln1062*)],这导致诊断为2型Turcot综合征。该索引患者接受了包括手术、放疗和化疗在内的多模式治疗,目前已结束治疗并处于缓解期。本病例报告旨在强调疾病的复杂性以及在低收入和中等收入国家识别这些疾病所需的专业知识,获得专门检测的必要性,以及在管理复杂肿瘤患者时低收入和中等收入国家与高收入国家合作的益处。