Department of Pathology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Department of Radiology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Int J Mol Sci. 2024 Nov 19;25(22):12427. doi: 10.3390/ijms252212427.
Extrarenal teratoid Wilms' tumor (TWT) is a variant of Wilms' tumor with fewer than 30 cases reported in the literature. It comprises more than 50% heterologous tissue and presents a significant diagnostic challenge due to its complex histology. We report an unusual case of mediastinal teratoma with nephroblastomatous elements in an 8-year-old female. The patient presented with respiratory distress, fever, weight loss, and a large anterior mediastinal mass. Imaging revealed a heterogeneous tumor containing fat, fluid, and calcification, suggestive of a teratoma. Surgical resection confirmed a mature cystic teratoma with foci of nephroblastoma. Pathological analysis demonstrated a mixture of ectodermal, mesodermal, and endodermal tissues alongside nephroblastomatous components. Immunohistochemistry was positive for Wilms Tumor 1 and other relevant markers, confirming the diagnosis. The patient had an uneventful postoperative course and was discharged after three days. This case adds to the growing body of research on extrarenal TWT, particularly its occurrence in the mediastinum, a rare site for such tumors. A literature review highlighted that extrarenal TWT often affects children, typically presenting in the retroperitoneum or sacrococcygeal regions, with varying recurrence rates and long-term outcomes. This case underscores the importance of histopathological and immunohistochemical analysis in diagnosing TWT and differentiating it from other mediastinal tumors to ensure appropriate treatment planning, emphasizing the need for long-term follow-up due to the potential for recurrence or metastasis. This paper also provides an in-depth look at nephron development and nephrogenic rests, highlighting the structural and functional aspects of nephrogenesis and the factors that disrupt it in fetal kidneys.
肾外胚层畸胎瘤 Wilms 瘤(TWT)是 Wilms 瘤的一种变体,文献中报道的病例少于 30 例。它由超过 50%的异源组织组成,由于其复杂的组织学,构成了重大的诊断挑战。我们报告了一例 8 岁女性纵隔畸胎瘤伴肾胚细胞瘤成分的罕见病例。患者表现为呼吸窘迫、发热、体重减轻和巨大的前纵隔肿块。影像学显示肿瘤呈异质性,包含脂肪、液体和钙化,提示为畸胎瘤。手术切除证实为成熟囊性畸胎瘤,伴肾胚细胞瘤灶。病理分析显示存在外胚层、中胚层和内胚层组织以及肾胚细胞瘤成分的混合物。免疫组织化学显示 Wilms 瘤 1 及其他相关标志物阳性,确诊为 TWT。患者术后恢复顺利,三天后出院。该病例增加了对肾外 TWT 的研究,特别是其在纵隔中的发生,纵隔是此类肿瘤罕见的部位。文献复习强调了肾外 TWT 通常发生在儿童,主要表现为腹膜后或骶尾部,复发率和长期预后存在差异。该病例强调了组织病理学和免疫组织化学分析在诊断 TWT 中的重要性,并区分其与其他纵隔肿瘤,以确保制定适当的治疗计划,强调了由于存在复发或转移的可能性,需要长期随访。本文还深入探讨了肾单位发育和肾源性静止,强调了肾发生的结构和功能方面,以及胎儿肾脏中破坏其发生的因素。