Pediatric thyroid-like follicular renal cell carcinoma-a post-neuroblastoma case with comprehensive genomic profiling data.

IF 3.4 3区医学 Q1 PATHOLOGY

Virchows Archiv Pub Date : 2024-07-11 DOI:10.1007/s00428-024-03867-9

Richárd Kiss, Tamás Micsik, Gábor Bedics, Gergő Papp, Monika Csóka, Zoltán Jenővári, Sándor Szabó, Tamás Tornóczki, Gordan Vujanic, Levente Kuthi

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Abstract

Thyroid-like follicular renal cell carcinoma (TLFRCC), an emerging subtype of renal cell carcinoma, presents diagnostic challenges due to its resemblance to normal thyroid tissue. Here, we report a rare case of TLFRCC in a pediatric patient, a demographic rarely affected by this subtype. Histologically resembling a typical TLFRCC, our case exhibited unique features including post-neuroblastoma development, occurrence in a male teenager, and diffuse MelanA expression, which has not been previously reported in TLFRCC. Comprehensive genomic profiling revealed the EWSR1::PATZ1 fusion, confirming its genetic basis. Due to the advanced tumor stage, the patient received combined immunotherapy, and after a 9-month follow-up, remains tumor-free. Our case broadens the diagnostic spectrum of pediatric renal cell carcinomas, highlighting the importance of comprehensive molecular profiling in rare subtypes such as TLFRCC. Further research is needed to better understand TLFRCC's genetic landscape and optimize therapeutic strategies, especially in pediatric populations with evolving treatment protocols.

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小儿甲状腺样滤泡性肾细胞癌--神经母细胞瘤后病例与全面的基因组剖析数据。

甲状腺样滤泡性肾细胞癌（TLFRCC）是一种新兴的肾细胞癌亚型，由于与正常甲状腺组织相似，给诊断带来了挑战。在这里，我们报告了一例罕见的儿童TLFRCC病例，儿童很少受这种亚型的影响。我们的病例在组织学上类似于典型的TLFRCC，但具有独特的特征，包括神经母细胞瘤后发育、发生于男性青少年以及弥漫性MelanA表达，这在以前的TLFRCC病例中从未报道过。全面的基因组分析发现了EWSR1::PATZ1融合，证实了其遗传基础。由于肿瘤处于晚期，患者接受了联合免疫治疗，经过9个月的随访，目前仍未发现肿瘤。我们的病例拓宽了小儿肾细胞癌的诊断范围，凸显了对TLFRCC等罕见亚型进行全面分子分析的重要性。为了更好地了解TLFRCC的基因情况并优化治疗策略，尤其是在治疗方案不断变化的儿科人群中，还需要进一步的研究。

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来源期刊

Virchows Archiv 医学-病理学

CiteScore

7.40

自引率

2.90%

发文量

204

审稿时长

4-8 weeks

期刊介绍： Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.

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