Mucinous spindle and tubular renal cell carcinoma: analysis of chromosomal aberration pattern of low-grade, high-grade, and overlapping morphologic variant with papillary renal cell carcinoma

Pecková, Květoslava; Martínek, Petr; Sperga, Māris; Montiel, Delia Pérez; Daum, Ondřej; Rotterová, Pavla; Kalusová, Kristýna; Hora, Milan; Pivovarčíková, Kristýna; Rychlý, Boris; Vranić, Semir; Davidson, Whitney; Vodička, J; Dubova, Magdalena; Michal, Michal; Hes, Ondřej

doi:10.1016/j.anndiagpath.2015.04.004

Cited by 33 publications

(21 citation statements)

References 25 publications

(52 reference statements)

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“…Importantly, chromosomes 1, 14 and 22, harbor PTPN14, SAV1 and NF2 genes respectively, and showed one copy loss in all samples which amounts to biallelic loss of these Hippo pathway TSGs in the index tumors. The recurrent chromosomal loss we observed by exome sequencing supports a recent study by Peckova et al (16) that reported similar recurrent chromosomal losses using array CGH and FISH strategies. Importantly none of the samples in this cohort with pure MTSCC histology displayed chromosomes 7 and 17 gains, commonly noted as gains in type I papillary RCC(17).…”

Section: Resultssupporting

confidence: 90%

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Biallelic Alteration and Dysregulation of the Hippo Pathway in Mucinous Tubular and Spindle Cell Carcinoma of the Kidney

et al. 2016

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Mucinous tubular and spindle cell carcinoma (MTSCC) is a relatively rare subtype of renal cell carcinoma with distinctive morphologic and cytogenetic features. Here we carry out whole exome and transcriptome sequencing of a multi-institutional cohort of MTSCC (n=22). We demonstrate the presence of either biallelic loss of Hippo pathway tumor suppressor genes (TSGs) and/or evidence of alteration of Hippo pathway genes in 85% of samples. PTPN14 (31%) and NF2 (22%) were the most commonly implicated Hippo pathway genes while other genes such as SAV1 and HIPK2 were also involved in a mutually exclusive fashion. Mutations in the context of recurrent chromosomal losses amounted to bi-allelic alterations in these TSGs. As a read-out of Hippo pathway inactivation, a majority of cases (90%) exhibited increased nuclear YAP1 protein expression. Taken together, nearly all cases of MTSCC exhibit some evidence of Hippo pathway dysregulation.

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Section: Resultssupporting

confidence: 90%

“…Finally, the cell of origin for MTSCC remains controversial (16, 32, 34). Our results based on expression correlations with dissected nephron sections suggest loop of Henle as a putative candidate and support previous electron microscopic studies by Srigley J. et al(32).…”

Section: Discussionmentioning

confidence: 99%

Biallelic Alteration and Dysregulation of the Hippo Pathway in Mucinous Tubular and Spindle Cell Carcinoma of the Kidney

et al. 2016

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“…Despite overlapping morphologic and immunophenotypic features with type 1 PRCC, recent molecular interrogation of MTSCC has documented characteristic chromosomal losses, recurrent somatic mutations in Hippo signaling pathway genes, and lack of chromosome 7/17 gains and MET mutations, indicating that MTSCC is indeed a molecularly distinct RCC subtype. 44,45 Finally, similar to type 1 PRCCs, MTSCCs are typically indolent tumors, however, a small subset of patients with MTSCC may develop metastases.…”

Section: Rcc With Papillary Architecturementioning

confidence: 99%

Morphologic, Molecular, and Taxonomic Evolution of Renal Cell Carcinoma: A Conceptual Perspective With Emphasis on Updates to the 2016 World Health Organization Classification

Udager

Mehra²

2016

Archives of Pathology &Amp; Laboratory Medicine

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Molecular and morphologic interrogation has driven a much-needed reexamination of renal cell carcinoma (RCC). Indeed, the recently released 2016 World Health Organization classification now recognizes 12 distinct RCC subtypes, as well as several other emerging/provisional RCC entities. From a clinical perspective, accurate RCC classification may have important implications for patients and their families, including prognostic risk stratification, targeted therapeutics selection, and identification for genetic testing. In this review, we provide a conceptual framework for approaching RCC diagnosis and classification by categorizing RCCs as tumors with clear cytoplasm, papillary architecture, and eosinophilic (oncocytic) cytoplasm. The currently recognized 2016 World Health Organization classification for RCC subtypes is briefly discussed, including new diagnostic entities (clear cell papillary RCC, hereditary leiomyomatosis and RCCassociated RCC, succinate dehydrogenase-deficient RCC, tubulocystic RCC, and acquired cystic disease-associated RCC) and areas of evolving RCC classification, such as transcription elongation factor B subunit 1 (TCEB1)-mutated RCC/RCC with angioleiomyoma-like stroma/ RCC with leiomyomatous stroma, RCC associated with anaplastic lymphoma receptor tyrosine kinase (ALK) gene rearrangement, thyroidlike follicular RCC, and RCC in neuroblastoma survivors. For each RCC subtype, relevant clinical, molecular, gross, and microscopic findings are reviewed, and ancillary studies helpful for its differential diagnosis are presented, providing a practical approach to modern RCC classification.

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“…Unlike the spindle sarcomatoid cells, the inherent spindle cell elements of MTSCC have distinctively low-grade cytology, and they occasionally blend with tubular structures and variable mucinous stroma. Immunohistochemistry of MTSCC shows that the neoplastic cells of both the tubules and the spindle cells are strongly positive for PAX 2/8, cytokeratin 7 and 8, EMA, AMACR and E-cadherin, with variable expression of vimentin and high-molecular-weight cytokeratin (14, 15). The sarcomatoid cells are associated with significant necrosis, marked nuclear pleomorphism, high mitotic activity, higher proliferation fraction (MIB1) and loss of AMACR or cytokeratin 7 expression (16, 17).…”

Section: Discussionmentioning

confidence: 99%

Unusual Case of Coexisting Renal Malignancies: Mucinous Tubular and Spindle Cell Carcinoma Kidney With Sarcomatoid Dedifferentiation

Akhtar

Agnihotri

Alam

et al. 2016

jkcvhl

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Mucinous tubular and spindle cell carcinoma (MTSCC) is a recent entity introduced in the World Health Organization 2004 Classification. It is a tumour of low malignant potential. MTSCC is a subtype of renal cell carcinoma (RCC), which is characterized by a polymorphous histology, wherein the spindled epithelial cell is an inherent carcinomatous component. We report the case of a 57-year-old man presenting with loin pain and dragging sensation. Imaging revealed a large mass arising from the left kidney. Radical nephrectomy was performed, and histopathology revealed spindle cell elements of MTSCC with low-grade cytology, which occasionally blended with tubular structures in variable mucinous stroma admixed with spindle sarcomatoid cells with marked nuclear pleomorphism, associated with significant necrosis and mitoses of up to 5/10 high-power field. A final diagnosis of MTSCC along with high-grade areas consistent with sarcomatoid dedifferentiation was made. Sarcomatoid dedifferentiation has been well documented in various subtypes of RCC, and its presence signifies a worse prognosis in RCC.

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Mucinous spindle and tubular renal cell carcinoma: analysis of chromosomal aberration pattern of low-grade, high-grade, and overlapping morphologic variant with papillary renal cell carcinoma

Cited by 33 publications

References 25 publications

Biallelic Alteration and Dysregulation of the Hippo Pathway in Mucinous Tubular and Spindle Cell Carcinoma of the Kidney

Biallelic Alteration and Dysregulation of the Hippo Pathway in Mucinous Tubular and Spindle Cell Carcinoma of the Kidney

Morphologic, Molecular, and Taxonomic Evolution of Renal Cell Carcinoma: A Conceptual Perspective With Emphasis on Updates to the 2016 World Health Organization Classification

Unusual Case of Coexisting Renal Malignancies: Mucinous Tubular and Spindle Cell Carcinoma Kidney With Sarcomatoid Dedifferentiation

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