ALK rearranged renal cell carcinoma (ALK-RCC): a multi-institutional study of twelve cases with identification of novel partner genes CLIP1, KIF5B and KIAA1217

Kuroda, Naoto; Trpkov, Kiril; Gao, Yuan; Tretiakova, Maria; Liu, Yajuan J.; Ulamec, Monika; Takeuchi, Kengo; Agaimy, Abbas; Przybycin, Christopher G.; Magi‐Galluzzi, Cristina; Fushimi, Soichiro; Kojima, Fumiyoshi; Sibony, M.; Hang, Jen‐Fan; Pan, Chin-Chen; Yilmaz, Aslı; Siadat, Farshid; Sugawara, Etsuko; Just, Pierre‐Alexandre; Ptáková, Nikola; Hes, Ondřej

doi:10.1038/s41379-020-0578-0

Cited by 56 publications

(59 citation statements)

References 43 publications

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“…Our renal case expands the spectrum of EWSR1-rearranged renal sarcomas and represents the second EWSR1-CREM fusion-positive renal case [5]. Moreover, it represents true pitfall as detection of ALK in eosinophilic RCC strongly suggests an ALK-rearranged RCC [10]. Indeed, this was our initial diagnosis.…”

Section: Discussionmentioning

confidence: 66%

Intra-abdominal EWSR1/FUS-CREM-rearranged malignant epithelioid neoplasms: two cases of an emerging aggressive entity with emphasis on misleading immunophenotype

et al. 2021

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CREB family (CREB1, ATF1, and CREM) gene fusions are defining markers in diverse mesenchymal neoplasms (clear cell sarcoma, angiomatoid fibrous histiocytoma, and others). However, neoplasms harboring EWSR1-CREM/FUS-CREM fusions are rare and poorly characterized. We describe two cases (55-year-old male with 7.5 cm renal mass and 32-year-old female with 5.5 cm mesenteric mass) illustrating their misleading immunophenotypes. Histologically, both showed eosinophilic and focally clear epithelioid cells arranged into sheets, nests, and trabeculae. Immunohistochemistry showed ALK, EMA, and AE1/AE3 immunoreactivity suggesting ALK-rearranged renal cell carcinoma (Case 1) and coexpression of keratin, EMA, synaptophysin, and chromogranin-A, suggesting neuroendocrine neoplasm (Case 2). Targeted RNA sequencing revealed EWSR1-CREM (Case 1) and FUS-CREM (Case 2) fusions. These cases add to the spectrum of CREM fusion-positive intra-abdominal epithelioid neoplasms. Their unusual immunophenotype and unexpected sites represent major pitfalls, underline a wide differential diagnosis, and emphasize the value of molecular testing in correctly diagnosing them.

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Section: Discussionmentioning

confidence: 66%

Intra-abdominal EWSR1/FUS-CREM-rearranged malignant epithelioid neoplasms: two cases of an emerging aggressive entity with emphasis on misleading immunophenotype

et al. 2021

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“…A review of the English literature revealed 42 cases that had sufficient clinicopathologic information. Except for a large case series by Kuroda et al, 20 most represent reports on single or a few cases (Table 1). Overall, ALK-rearranged RCCs occurred in a wide age range and had varied morphology.…”

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%

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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“…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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ALK rearranged renal cell carcinoma (ALK-RCC): a multi-institutional study of twelve cases with identification of novel partner genes CLIP1, KIF5B and KIAA1217

Cited by 56 publications

References 43 publications

Intra-abdominal EWSR1/FUS-CREM-rearranged malignant epithelioid neoplasms: two cases of an emerging aggressive entity with emphasis on misleading immunophenotype

Intra-abdominal EWSR1/FUS-CREM-rearranged malignant epithelioid neoplasms: two cases of an emerging aggressive entity with emphasis on misleading immunophenotype

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

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

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