ALK-rearranged renal cell carcinoma with a novel PLEKHA7-ALK translocation and metanephric adenoma-like morphology

Hang, Jen‐Fan; Chung, Hsiao-Jen; Pan, Chin-Chen

doi:10.1007/s00428-020-02752-5

Cited by 24 publications

(20 citation statements)

References 34 publications

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“…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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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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“…Although it was originally described as a tumor arising from cells of the loop of Henle or the collecting duct, the expression of CK7 and AMACR suggested its proximal nephron origin and its close resemblance to papillary RCC [12]. In the present case, although the ndings of a lack of AMACR expression and lymph node metastasis were not typical ndings of MTSCC, we initially considered MTSCC based on reports of rare cases of MTSCC that lacked AMACR expression, lymph node metastasis, and distant metastases [10,13]. Considering the above-mentioned ALK-RCC case morphologically resembling MTSCC with AMACR expression, we strongly recommend an analysis of ALK expression by IHC when diagnosing a renal tumor that mimics MTSCC.…”

Section: Discussionmentioning

confidence: 82%

ALK Rearrangement-Associated Renal Cell Carcinoma Morphologically Mimicking Mucinous Tubular And Spindle Cell Carcinoma: A Case Report

Kai

Tobu

Kido

et al. 2021

Preprint

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Background: Anaplastic lymphoma kinase rearrangement-associated renal cell carcinoma (ALK-RCC) is a very rare tumor and no single case report of ALK-RCC that mimics mucinous tubular and spindle cell carcinoma (MTSCC) has been reported.Case presentation: A 42-year-old Japanese woman was admitted to our hospital for the treatment of a left renal tumor measuring approximately 5 × 4 cm in diameter. She underwent a laparoscopic left nephrectomy. Histologically, the tumor formed tubular or focally papillary structures with a small amount of spindle-shaped tumor cells against the background of prominent extracellular mucin. Although the tumor cells were negative for immunohistochemistry (IHC) of alpha-methylacyl-CoA racemase (AMACR) and lymph node metastasis was presented (these are atypical findings for MTSCC), we initially diagnosed the tumor as MTSCC based on its morphological characteristics with mucin deposition. However, an additional IHC analysis revealed that the tumor cells were diffusely positive for ALK-IHC. In addition, TPM3 exon 8 – ALK exon 20 fusion gene was detected by RNA sequencing. The tumor was thus correctly diagnosed as ALK rearrangement-associated renal cell carcinoma (ALK-RCC). Conclusions: Since the use of molecular targeted therapy with an ALK inhibitor for ALK-RCC is promising, the correct pathological diagnosis of ALK-RCC is quite important. We strongly recommend that ALK-IHC be routinely performed for renal tumors with negative AMACR staining that mimic MTSCC.

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“…Until recently, VCL-ALK rearrangements has been reported only in pediatric patients of African American origin with the sickle-cell trait. Some cases in adult patients have been described as metanephric adenoma, mucinous tubular and spindle cell carcinoma, MiTF RCC (due to the positivity for TFE3 by IHC without FISH confirmed rearrangement for Xp11.2 translocation) (46,47).…”

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 with a novel PLEKHA7-ALK translocation and metanephric adenoma-like morphology

Cited by 24 publications

References 34 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

ALK Rearrangement-Associated Renal Cell Carcinoma Morphologically Mimicking Mucinous Tubular And Spindle Cell Carcinoma: A Case Report

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

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