一例未分类的髓样型肾细胞癌(RCCU-MP)儿童和青年病例:临床病程和治疗方法

J. N. van der Beek, A. Uittenboogaard, R. R. de Krijger, Floor A M Duijkers, Marieke JM Meijs, Joyce Baard, M. Vermeulen, Germaine Liebrechts-Akkerman, Geert O. Janssens, J. P. van der Voorn, M. V. D. van den Heuvel-Eibrink, A. Littooij, A. Mavinkurve-Groothuis
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摘要

肾细胞癌(RCC)是成年人最常见的肾脏肿瘤。RCC 在儿童中较为罕见,但其发病率在儿童生命的第二个十年中有所增加。肾髓质癌(RMC)是一种罕见的侵袭性 RCC 亚型,其特点是 SMARCB1/INI1 基因完全缺失,主要在镰状细胞病或镰状细胞遗传病患者中确诊。在此,我们描述了一名儿童患者和一名年轻成人患者,他们的临床病理特征与 RMC 相似,但没有血红蛋白病。这些肿瘤目前被归类为 "未分类的髓样表型 RCC"(RCCU-MP)。我们的两名患者都患有浸润性、较小的肾脏肿瘤,并伴有 SMARCB1/INI1 缺乏症。值得注意的是,这两个病例的侵袭性、临床过程和治疗方法大相径庭。迄今为止,仅有九例患者(主要是成人)被报道过。在文献综述中,大多数病例是转移性的,经过不同的治疗方法后病情进展或复发,存活率很低。虽然这些肿瘤的分类仍是一个争论不休的话题,但病例报告增加了目前人们对无血红蛋白病的肾脏肿瘤的了解,强调了分享有关罕见肾脏肿瘤的经验的重要性,这些肿瘤的治疗效果往往很差,而且还涉及较年轻的年龄组。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A pediatric and young adult case of unclassified renal cell carcinoma with medullary phenotype (RCCU-MP): Clinical course and treatment
Renal cell carcinoma (RCC) is the most common kidney tumor in adults. RCC is rare in children, although its incidence increases in the second decade of life. Renal medullary carcinoma (RMC) is a rare and often aggressive RCC subtype characterized by complete loss of SMARCB1/INI1, predominantly diagnosed in patients with sickle cell disease or -trait. Here, we describe a pediatric and a young adult patient with clinicopathological characteristics similar to RMC but without hemoglobinopathies. These tumors are currently classified as “RCC unclassified with medullary phenotype” (RCCU-MP). Both our patients had an infiltrating, rather small kidney tumor with SMARCB1/INI1 deficiency. Remarkably, the aggressiveness and clinical course and treatment differed greatly between these two cases. So far, only nine patients, predominantly adults, have been reported. In a literature overview, most cases were metastatic and progressed or relapsed after varying treatment approaches, with low survival. Whereas the classification of these tumors remains a topic of debate, case reports add to the current knowledge of RMCs without hemoglobinopathies, stressing the importance of sharing experience concerning rare renal neoplasms with often poor outcomes, also concerning younger age categories.
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