Targeted next-generation sequencing revealed distinct clinicopathologic and molecular features of VCL-ALK RCC: A unique case from an older patient without clinical evidence of sickle cell trait

Wang, Xiaotong; Fang, Ru; Ye, Sheng-bing; Zhang, Rusong; Li, Rui; Wang, Xuan; Ji, R H; Lu, Zhengfeng; Ma, Hu; Zhou, Xiaojun; Xia, Qiuyuan; Rao, Qiu

doi:10.1016/j.prp.2019.152651

Cited by 12 publications

(6 citation statements)

References 27 publications

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“…Since the initial description of VCL-ALK-RCCs by Debelenko et al 1 and Mariño-Enríquez et al, 2 3 additional cases have been reported; all except 1 case had distinctive features of VCL-ALK RCC. [3][4][5] The outlier case is that of Wang et al, 5 who described an RCC with a VCL-ALK gene fusion in a middle-aged Chinese woman who did not have evidence of sickle cell trait clinically. Microscopically, this tumor had tubular to tubulopapillary architectures, intraluminal mucin, and desmoplastic stroma -features more similar to some of the non-VCL-ALK RCCs, including our case.…”

Section: Discussionmentioning

confidence: 99%

“…Since then, 3 additional VCL-ALK cases have been reported. [3][4][5] In addition, there have been multiple case reports and small case series describing ALK-rearranged RCCs with fusion partners besides VCL, including TPM3, EML4, STRN, etc [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] ; these RCCs occurred mostly in adults without sickle cell trait. Herein, we present 2 previously unreported cases of ALK-rearranged RCC-1 with a VCL-ALK fusion and the other with an EML4-ALK fusion-which further support the distinctive clinicopathologic features of the VCL-ALK RCCs.…”

Section: Introductionmentioning

confidence: 99%

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ALK-rearranged Renal Cell Carcinoma (RCC): A Report of 2 Cases and Review of the Literature Emphasizing the Distinction Between VCL-ALK and Non-VCL-ALK RCC

et al. 2021

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Anaplastic lymphoma kinase (ALK) rearrangement-associated renal cell carcinoma ( ALK-rearranged RCC) is a new provisional entity that has been included in the 2016 World Health Organization classification of RCCs. We report 2 cases of ALK-rearranged RCC, 1 with a vinculin-ALK ( VCL-ALK) fusion and the other with an EML4-ALK fusion. The VCL-ALK RCC occurred in a 14-year-old girl with sickle cell trait and showed features similar to previously described VCL-ALK RCCs, including medullary epicenter, solid architecture, and polygonal cells with cytoplasmic vacuoles. The EML4-ALK RCC occurred in a 14-year-old boy with no evidence of sickle cell trait and had multiple less-specific growth patterns comprising tubular, solid, and tubulopapillary architectures in the desmoplastic stroma, reminiscent of collecting duct carcinoma. Both tumors demonstrated cytoplasmic and membranous ALK protein expression by immunohistochemistry. Fluorescence in situ hybridization confirmed the ALK gene rearrangements in both cases. On review in the literature, we found that solid architecture and cytoplasmic vacuoles were present significantly more frequently in VCL-ALK RCC than in non- VCL-ALK RCC, supporting the distinctive nature of the former.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

ALK-rearranged Renal Cell Carcinoma (RCC): A Report of 2 Cases and Review of the Literature Emphasizing the Distinction Between VCL-ALK and Non-VCL-ALK RCC

et al. 2021

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“…However, rearrangement of ALK is not restricted only to ALK-RCC, but has also been previously documented in other non-renal tumors, such as non-small-cell lung adenocarcinoma, anaplastic thyroid carcinoma, anaplastic large-cell lymphoma, and others [15]. Since the first report in 2011, less than 30 cases of ALK-RCC have been reported [16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32]. These tumors demonstrate considerable morphologic diversity, but their underlying commonality includes the ALK rearrangement that can be documented either by IHC or by molecular studies, such as fluorescence in situ hybridisation (FISH).…”

Section: Alk Rearrangement-associated Rcc (Alk-rcc)mentioning

confidence: 91%

“…Until recently, VCL-ALK has been documented only in pediatric patients of African American descent with the sickle-cell trait [19,21,27,28]. However, a recent report identified VCL-ALK fusion in a 57 year-old Chinese woman, without any evidence of the sickle cell trait [31]. Four other ALK fusion gene partners have been also identified, both in pediatric and adult patients: TPM3-ALK, EML4-ALK, striatin (STRN)-ALK, and HOOK1-ALK [16][17][18][20][21][22][23].…”

Section: Immunohistochemistry Electron Microscopy and Molecular Featmentioning

confidence: 99%

ESC, ALK, HOT and LOT: Three Letter Acronyms of Emerging Renal Entities Knocking on the Door of the WHO Classification

Siadat

Trpkov

2020

Cancers

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Kidney neoplasms are among the most heterogeneous and diverse tumors. Continuous advancement of this field is reflected in the emergence of new tumour entities and an increased recognition of the expanding morphologic, immunohistochemical, molecular, epidemiologic and clinical spectrum of renal tumors. Most recent advances after the 2016 World Health Organization (WHO) classification of renal cell tumors have provided new evidence on some emerging entities, such as anaplastic lymphoma kinase rearrangement-associated RCC (ALK-RCC), which has already been included in the WHO 2016 classification as a provisional entity. Additionally, several previously unrecognized entities, not currently included in the WHO classification, have also been introduced, such as eosinophilic solid and cystic renal cell carcinoma (ESC RCC), low-grade oncocytic renal tumor (LOT) and high-grade oncocytic renal tumor (HOT) of kidney. Although pathologists play a crucial role in the recognition and classification of these new tumor entities and are at the forefront of the efforts to characterize them, the awareness and the acceptance of these entities among clinicians will ultimately translate into more nuanced management and improved prognostication for individual patients. In this review, we summarise the current knowledge and the novel data on these emerging renal entities, with an aim to promote their increased diagnostic recognition and better characterization, and to facilitate further studies that will hopefully lead to their formal recognition and consideration in the future classifications of kidney tumors.

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“…ALK-RCC has been described in 2011 and less than 30 cases have been reported so far (35)(36)(37)(38)(39)(40)(41)(42)(43).…”

Section: Anaplastic Lymphoma Kinase (Alk) Rearrangement-associated Rcmentioning

confidence: 99%

Towards a new WHO classification of renal cell tumor: what the clinician needs to know—a narrative review

Cimadamore¹,

Liu²,

Scarpelli³

et al. 2021

Transl Androl Urol

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In 1952, renal cell carcinomas had been divided into 2 categories-clear cell or granular celldepending upon their cytoplasmic staining characteristics. In the following years, the inventory of renal epithelial tumors has expanded by the addition of tumors named by their architectural pattern (i.e., papillary RCC, tubulocystic RCC), anatomic location (i.e., collecting duct carcinoma, renal medullary carcinoma), associated diseases (i.e., acquired cystic disease-associated RCCs). With the extensive application of molecular diagnostic techniques, it becomes possible to detect genetic distinctions between various types of renal neoplasm and discover new entities, otherwise misdiagnosed or diagnosed as unclassified RCC. Some tumors such as ALK rearrangement-associated RCC, MiT family translocation renal carcinomas, SDHdeficient renal cancer or FH-deficient RCC, are defined by their molecular characteristics. The most recent World Health Organization (WHO) classification of renal neoplasms account for more than 50 entities and provisional entities. New entities might be included in the upcoming WHO classification. The aim of this review is to summarise and discuss the newly acquired data and evidence on the clinical, pathological, molecular features and on the prognosis of new RCC entities, which will hopefully increase the awareness and the acceptance of these entities among clinicians and improve prognostication for individual patients.

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Targeted next-generation sequencing revealed distinct clinicopathologic and molecular features of VCL-ALK RCC: A unique case from an older patient without clinical evidence of sickle cell trait

Cited by 12 publications

References 27 publications

ALK-rearranged Renal Cell Carcinoma (RCC): A Report of 2 Cases and Review of the Literature Emphasizing the Distinction Between VCL-ALK and Non-VCL-ALK RCC

ALK-rearranged Renal Cell Carcinoma (RCC): A Report of 2 Cases and Review of the Literature Emphasizing the Distinction Between VCL-ALK and Non-VCL-ALK RCC

ESC, ALK, HOT and LOT: Three Letter Acronyms of Emerging Renal Entities Knocking on the Door of the WHO Classification

Towards a new WHO classification of renal cell tumor: what the clinician needs to know—a narrative review

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