Aggressive and nonaggressive translocation t(6;11) renal cell carcinoma: comparative study of 6 cases and review of the literature

Pecková, Květoslava; Vaněček, Tomáš; Martínek, Petr; Spagnolo, Dominic V.; Kuroda, Naoto; Brunelli, Matteo; Vranić, Semir; Djuričić, Slaviša; Rotterová, Pavla; Daum, Ondřej; Kokošková, Bohuslava; Veselá, Pavla; Pivovarčíková, Kristýna; Bauleth, Kevin; Dubova, Magdalena; Kalusová, Kristýna; Hora, Milan; Michal, Michal; Hes, Ondřej

doi:10.1016/j.anndiagpath.2014.10.002

Cited by 43 publications

(63 citation statements)

References 24 publications

(26 reference statements)

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“…Three of our 8 cases presented with advanced disease, two subsequently developed metastatic disease, while the other three were small, localized pT1 lesions with minimal follow up. Our results again corroborate prior reports, as all 3 TFEB -amplified cases included within the TCGA papillary RCC study presented with locally-advanced disease (two of which metastasized in limited follow-up), while the case reported by Peckova et al 20 presented as a large tumor that metastasized and caused patient death. In contrast, non-amplified t(6;11) RCC have generally had an indolent clinical course, with only 5 metastases in approximately 60 cases (including published cases and unpublished cases in our files).…”

Section: Discussionsupporting

confidence: 92%

“…reported a case in a 77 year-old woman which demonstrated TFEB rearrangement and amplification that metastasized to the adrenal gland and lung, causing patient death 2.5 months after diagnosis. 20 This neoplasm had nested/alveolar/pseudopapillary architecture, and was predominantly composed of high grade polygonal eosinophilic cells similar to the majority of cases described herein. Williamson et al recently reported in abstract form a single case of a pT3a RCC in a 57 year-old male associated with chromosome 6p amplification including TFEB , and referenced 2 of the TCGA cases noted above.…”

Section: Discussionsupporting

confidence: 66%

“…This is again consistent with the previously described cases, in which only the amplified and rearranged case reported by Peckova et al . 20 was noted to show typical t(6;11) biphasic morphology, and this was noted to be less than typically seen in unamplified t(6;11) RCC. Instead, the morphology of the TFEB -amplified cases was more variable though consistently of high nucleolar grade.…”

Section: Discussionmentioning

confidence: 90%

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TFEB-amplified Renal Cell Carcinomas

Argani

Reuter

Zhang

et al. 2016

American Journal of Surgical Pathology

106

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Renal cell carcinomas (RCCs) with the t(6;11)(p21;q12) chromosome translocation are low grade RCC which often occur in young patients. They typically feature an unusual biphasic morphology characterized by nests of larger epithelioid cells surrounding intraluminal collections of smaller cells clustered around basement membrane material. The t(6;11)(p21;q12) translocation fuses the Alpha (MALAT1) gene with the TFEB transcription factor gene, resulting in upregulated expression of intact native TFEB that drives the aberrant expression of melanocytic markers which is a hallmark of this distinctive neoplasm. We now report 8 cases of RCC which demonstrate TFEB gene amplification (6 without TFEB rearrangement, 2 with concurrent TFEB rearrangement) and demonstrate downstream consequences of TFEB overexpression. Like the unamplified t(6;11) RCC, all TFEB-amplified RCC were associated with aberrant melanocytic marker expression. However, several differences between TFEB-amplified RCC and the usual unamplified t(6;11) RCC are evident. First, TFEB-amplified RCC occurred in older patients (median age 64.5 years) compared with unamplified t(6;11) RCC (median age 31 years). Second, the morphology of TFEB-amplified RCC is not entirely distinctive, frequently featuring nests of high grade epithelioid cells with eosinophilic cytoplasm associated with pseudopapillary formation and necrosis, or true papillary formations. These patterns raise the differential diagnosis of high grade clear cell and papillary RCC. Third, TFEB and melanocytic marker expression was more variable within the TFEB-amplified RCC. TFEB protein expression by immunohistochemistry was detectable in 6 of 8 cases. While all 8 cases expressed melan-A, only 5 of 8 expressed cathepsin K and only 3 of 8 expressed HMB45. Fourth, the TFEB-amplified RCC were associated with a more aggressive clinical course; 3 of 8 cases presented with advanced stage or metastatic disease, 2 subsequently developed metastatic disease, while the other 3 cases had minimal/no follow-up. Our results are corroborated by scant data reported on 6 TFEB-amplified RCC in the literature, gleaned from 1 case report, 1 abstract, and 4 individual cases identified within two genomic studies of large cohorts of RCC. In summary, TFEB-amplified RCC represent a distinct molecular subtype of high grade adult RCC associated with aggressive clinical behavior, variable morphology, and aberrant melanocytic marker expression.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 66%

Section: Discussionmentioning

confidence: 90%

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TFEB-amplified Renal Cell Carcinomas

Argani

Reuter

Zhang

et al. 2016

American Journal of Surgical Pathology

106

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“…However, a study of a series of type 1 papillary RCCs by Peckova et al demonstrated a good clinical outcome for cystic and extensively necrotic tumours [80]. Necrosis has also been shown to be an adverse prognostic factor in t (6,11) translocation RCCs [81]. A study by Collins and Epstein of RCCs with extensive necrosis has, however, shown the situation to be more complex, with widespread cystic necrosis in high-grade tumours associated with a worse prognosis, but suggesting a good prognosis for low-grade tumours where the tumour type, grade and stage have greater prognostic significance [82].…”

Section: Resultsmentioning

confidence: 99%

WHO/ISUP classification, grading and pathological staging of renal cell carcinoma: standards and controversies

2018

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“…Translocation t(6;11) RCCs are typically composed of large eosinophilic cells with formation of pseudorosettes. These tumours are immunoreactive for HMB45, Melan A and TFEB, and the diagnosis can be further confirmed by molecular genetic analysis of TFEB (break or protein expression) …”

Section: Discussionmentioning

confidence: 91%

Reactivity of CK7 across the spectrum of renal cell carcinomas with clear cells

et al. 2019

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Aims Current available data on cytokeratin 7 (CK7) immunostaining pattern in the clear cell renal cell carcinoma (RCC) spectrum is conflicting. The aim of this study was to assess CK7 immunoreactivity within the spectrum of clear cell renal neoplasms, including clear cell RCC, multicystic renal neoplasm of low malignant potential and clear cell papillary RCC‐like tumours. Methods and results We analysed two clones of CK7 and two tumour blocks for a total of 75 cases divided into five distinct groups: (i) low‐grade clear cell RCC, (ii) high‐grade clear cell RCC, (iii) multicystic renal neoplasm of low malignant potential, (iv) clear cell RCC with cystic changes and (v) clear cell papillary RCC‐like tumours. We found the highest CK7 reactivity in low‐grade clear cell RCC, multicystic renal neoplasm of low malignant potential and clear cell papillary RCC‐like groups, ranging from 60% to 93%. Conclusions Our findings show that CK7 immunoreactivity in clear cell RCC is variable, and the extent of staining depends on the grade and architectural growth patterns of the tumours.

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Aggressive and nonaggressive translocation t(6;11) renal cell carcinoma: comparative study of 6 cases and review of the literature

Cited by 43 publications

References 24 publications

TFEB-amplified Renal Cell Carcinomas

TFEB-amplified Renal Cell Carcinomas

WHO/ISUP classification, grading and pathological staging of renal cell carcinoma: standards and controversies

Reactivity of CK7 across the spectrum of renal cell carcinomas with clear cells

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