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版本 4:未分类.pdf

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1、Biology and Therapeutic Vulnerabilities:Needs and OpportunitiesYing-Bei Chen,MD,PhDAttending PathologistDepartment of Pathology and Laboratory MedicineMemorial Sloan Kettering Cancer CenterVariant 4:UnclassifiedWHO Classification of Renal Cell Tumors(5th)Clear cell renal tumorsClear cell RCCMultiloc

2、ular cystic renal neoplasm-LMPPapillary renal tumorsPapillary adenomaPapillary RCCOncocytic and chromophobe renal tumorsOncocytoma Chromophobe RCCOther oncocytic tumors(emerging entities and NOS)Collecting duct tumorsCollecting duct carcinomaOther renal tumorsClear cell papillary renal cell tumorMuc

3、inous tubular and spindle cell carcinomaTubulocystic RCCAcquired cystic disease-associated RCCEosinophilic solid and cystic RCCRCC,NOS(unclassified)Molecularly defined RCCTFE3-rearrangedTFEB-alteredELOC(formerly TCEB1)-mutatedFumarate hydratase(FH)-deficientSuccinate dehydrogenase(SDHB)-deficientALK

4、-rearrangedSMARCB1-deficient renal medullary carcinoma(RMC)Tumors with papillary architecture Papillary RCC TFE3-rearranged RCC TFEB-altered RCC FH-deficient RCC ALK-rearranged RCC RCC,NOS(unclassified)Tumors with oncocytic/eosinophilic feature Chromophobe RCC SDHB-deficient RCC FH-deficient RCC TFE

5、B-altered RCC Tumors of Birt-Hogg-Dub Eosinophilic solid and cystic(ESC)RCC Other oncocytic tumorsEosinophilic vacuolated tumor(EVT)Low grade oncocytic tumor(LOT)Oncocytic neoplasm,NOS RCC,NOS(unclassified)Tumor with high-grade poorly differentiated morphology Clear cell RCC FH-deficient RCC SMARCB1

6、-deficient RMC Mucinous tubular and spindle cell carcinoma(MTSCC)with high grade transformation Collecting duct carcinoma RCC,NOS(unclassified)Unclassified:Unknown/Grey-zone Areas of ClassificationPapillary RCCNEJM 2016Cell Rep.2018TCGA-KIRP TFE3-rearranged RCC TFEB-altered RCC FH-deficient RCC ALK-

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根据报告的内容,全文主要内容概括如下: 1. 肾细胞癌(RCC)的分类:包括透明细胞、乳头状、肾髓质癌等类型,以及分子定义的RCC亚型,如TFE3重排、TFEB突变等。 2. 乳头状RCC(PRCC)的亚型:分为1型和2型,但不再推荐这种分类,因为分子异质性大,WHO/ISUP分级对预后有价值。 3. 收集管癌的诊断标准:包括肾髓质侵犯、管状形态、纤维化间质反应、高分级细胞学及浸润性生长模式。 4. 未分类RCC的分子亚型:包括NF2缺失亚型和mTORC1过度活跃亚型。 5. 未分类RCC的分子通路:涉及NF2/Hippo、TP53、DDR和染色质修饰基因突变。 6. 未分类RCC的预后和治疗:基因组分析揭示了新的亚型和分子亚型,有助于疾病分层,治疗策略需结合治疗反应数据。
未知领域揭秘" 分子标记助力诊断" 分子分型引领精准医疗"
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