Somers Gino R, L'Herminé-Coulomb Aurore, Matoso Andres, O'Sullivan Maureen J
Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Canada.
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Virchows Arch. 2025 Jan;486(1):49-64. doi: 10.1007/s00428-024-04017-x. Epub 2025 Jan 9.
Paediatric renal tumours include a broad range of neoplasms which largely differ, but also overlap to a smaller extent, with adult kidney cancer. These include the embryonal tumour nephroblastoma, which accounts for the majority of cases of kidney cancer in the first decade of life and, despite boasting a cure in ~ 90% cases, still presents clinical challenges in a small proportion of cases. A variety of less common mesenchymal tumours, including the mostly indolent congenital mesoblastic nephroma, clear cell sarcoma of kidney which continues to be associated with poor outcomes for higher stage disease, and the typically lethal malignant rhabdoid tumour, form the bulk of the remaining presentations in the first decade. All three of these represent the intrarenal form of a wider 'family' of genetically related and histologically overlapping entities occurring in soft tissue and other anatomical locations. The latter two are examples of aggressive 'epigenetic' tumours driven by dysregulation of chromatin. In the second decade of life, renal cell carcinoma dominates, and with molecular characterisation many distinct subtypes are now described. Herein we discuss the developments in relation to diagnostic categorisation of paediatric renal cancers and how deeper understanding of the underlying biology is already providing therapeutic opportunity, while also focussing on the challenges that remain for the pathologist.
小儿肾肿瘤包括多种肿瘤，它们在很大程度上与成人肾癌不同，但也有较小程度的重叠。这些肿瘤包括胚胎性肿瘤肾母细胞瘤，它占生命最初十年肾癌病例的大多数，尽管约90%的病例可治愈，但仍有一小部分病例存在临床挑战。多种不太常见的间叶性肿瘤，包括大多生长缓慢的先天性中胚叶肾瘤、晚期疾病预后仍然较差的肾透明细胞肉瘤，以及通常致命的恶性横纹肌样瘤，构成了生命最初十年其余病例的大部分。这三种肿瘤均代表了一个更广泛的“家族”中的肾内形式，该家族在软组织和其他解剖部位存在基因相关且组织学上有重叠的实体。后两种是由染色质失调驱动的侵袭性“表观遗传”肿瘤的例子。在生命的第二个十年，肾细胞癌占主导地位，通过分子特征分析，现在已描述了许多不同的亚型。在此，我们讨论小儿肾癌诊断分类方面的进展，以及对潜在生物学的更深入理解如何已经提供了治疗机会，同时也关注病理学家仍然面临的挑战。
