Clear Cell Sarcoma of the Kidney

Aw, Sze Jet; Chang, Kenneth Tou En

doi:10.5858/arpa.2018-0045-rs

Cited by 23 publications

(32 citation statements)

References 35 publications

(40 reference statements)

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“…The classic pattern is generally noted admixed with other histopathological patterns, although the proportion varies. The most distinctive feature is the presence of fine chicken‐wire–like vasculature, which is usually not seen in other paediatric renal tumours 4 …”

Section: Discussionmentioning

confidence: 99%

“…Recent studies into its aetiopathogenesis have identified an association with a recurrent balanced translocation t(10;17), leading to YWHAE‐NUTM2 gene fusion, in around 12% of the cases. Many other cases have shown the presence of an in‐frame internal tandem duplication of exon 15 of the BCOR gene (70% of the cases) and BCOR‐CCNB3 gene fusion; however, no association with genetic syndromes has been noted to date 4 …”

Section: Discussionmentioning

confidence: 99%

“…Among the immunochemical markers, the tumour cells show strong and diffuse positivity for vimentin and cyclin D1, and EZH2 overexpression. BCOR shows variable positivity 4 …”

Section: Discussionmentioning

confidence: 99%

“…The most characteristic cytological features favouring CCSK include the identification of deceptively bland nuclear chromatin, nuclear grooves, inconspicuous nucleoli, presence of a moderate amount of pale‐clear cytoplasm, and thin‐walled arborising vascular channels. Table 1 highlights the salient features useful in differentiating between these tumors 1,2,4 …”

Section: Discussionmentioning

confidence: 99%

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Unilateral solid‐cystic renal mass in an infant: Highlighting the cytological mimics

et al. 2021

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Clear cell sarcoma of the kidney (CCSK) is the second most common primary renal malignancy in children, accounting for 3%‐5% of all primary paediatric renal tumours. Owing to its well‐known histopathological diversity, it is one of the most commonly misdiagnosed renal tumours. Establishing a cytological diagnosis of CCSK is challenging due to its rarity as well as the lack of knowledge about its cytological features. Described are the cytological features of a CCSK diagnosed in a male infant.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Among the immunochemical markers, the tumour cells show strong and diffuse positivity for vimentin and cyclin D1, and EZH2 overexpression. BCOR shows variable positivity 4 …”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Unilateral solid‐cystic renal mass in an infant: Highlighting the cytological mimics

et al. 2021

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“…The identification of either the YWHAE-NUTM2 gene fusion or BCOR ITD (internal tandem duplication) would be definitive for diagnosis of CCSK, 24 although cyclin D1 positivity is an acceptable alternative.…”

Section: Cell Blocks In Wtmentioning

confidence: 99%

Diagnostic accuracy and cytomorphological spectrum of Wilms tumour in fine needle aspiration biopsy cytology samples supplemented with cell blocks

Gupta

Srinivasan

Trehan

et al. 2021

Pediatric Blood & Cancer

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Objective: Paediatric malignant renal neoplasms are subjected to neoadjuvant chemotherapy as per Societe Internationale d'Oncologie Pediatrique; International Society of Pediatric Oncology (SIOP) protocol. An accurate tissue diagnosis is required prior to institution of chemotherapy, and hence the aim of this study was to evaluate the diagnostic accuracy of fine needle aspiration biopsy cytology (FNABC) along with cell block histology. Materials and Methods:A retrospective audit of all paediatric renal neoplasms diagnosed by FNABC between 2015 and 2019 was performed. Histopathology correlation was done wherever available. WT cases were subjected to detailed cytomorphological evaluation.Results: A total of 121 cases of paediatric renal neoplasms including 109 WT, four clear cell sarcoma, one malignant rhabdoid tumour and three mesoblastic nephroma were evaluated. The age range was 4 weeks to 8 years. FNABC samples were adequate for diagnosis in 120 of 121 cases (99.18%) and a definitive cytological diagnosis was achieved in 117 cases (96.7%). The specificity and sensitivity for a cytopathological diagnosis of WT were 98.7% and 97.4%, respectively. On detailed cytomorphological analysis of 68 histopathology-proven WT, 40 (58.8%) cases were triphasic, 23 (35.3%) were biphasic and four were composed of blastema only. The corresponding cell blocks provided additional information over the conventional smears in 23 (33.8%) cases, with epithelial or mesenchymal elements recognised and evidence of rhabdomyoblastic differentiation. Conclusion:FNABC along with cell block histology is highly accurate for diagnosis of WT and other malignant paediatric renal neoplasms and is recommended as the Abbreviations: CCSK, clear cell sarcoma of the kidney; FNABC, fine needle aspiration biopsy cytology; hpf, high power field; SIOP, Societe Internationale d'Oncologie Pediatrique; International Society of Pediatric Oncology; WT, Wilms tumour; WT1, Wilms tumour 1 antigen.

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Paediatric BCOR‐associated sarcomas with a novel long spliced internal tandem duplication of BCOR exon 15

Goh

Kuick

Sugiura

et al. 2022

The Journal of Pathology CR

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Clear cell sarcoma of the kidney (CCSK) and primitive myxoid mesenchymal tumour of infancy (PMMTI) are paediatric sarcomas that most commonly harbour internal tandem duplications (ITDs) of exon 15 of the BCOR gene, in the range of 87–114 base pairs (bp). Some cases, instead, have BCOR‐CCNB3 or YWHAE‐NUTM2 gene fusions. About 10% of cases lack any of these genetic alterations when tested by standard methods. Two cases of CCSK and one PMMTI lacking the aforementioned mutations were analysed using Archer FusionPlex technology. Two related BCOR exon 15 RNA transcripts with ITDs of lengths 388 and 96 bp were detected in each case; only the 388 bp transcript was identified when genomic DNA was sequenced. In silico analysis of this transcript revealed acceptor and donor splice sites indicating that, at the RNA level, the 388‐bp transcript was likely spliced to form the 96‐bp transcript. The results were confirmed by Sanger sequencing using primers targeting the ITD breakpoint. This novel and unusually long ITD segment is difficult to identify by DNA sequencing using typical primer design strategies flanking entire duplicated segments because it exceeds the typical read lengths of most sequencing platforms as well as the usual fragment lengths obtained from formalin‐fixed paraffin‐embedded material. As diagnosis of CCSK and PMMTI may be challenging by morphology and immunohistochemistry alone, it is important to identify mutations in these cases. Knowledge of this novel BCOR ITD is important in relation to primer design for detection by sequencing, and using RNA versus DNA for sequencing.

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Clear Cell Sarcoma of the Kidney

Cited by 23 publications

References 35 publications

Unilateral solid‐cystic renal mass in an infant: Highlighting the cytological mimics

Unilateral solid‐cystic renal mass in an infant: Highlighting the cytological mimics

Diagnostic accuracy and cytomorphological spectrum of Wilms tumour in fine needle aspiration biopsy cytology samples supplemented with cell blocks

Paediatric BCOR‐associated sarcomas with a novel long spliced internal tandem duplication of BCOR exon 15

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