Renal cell carcinoma morphologically similar to fumarate hydratase‐deficient RCC in a patient with BRCA2 germline mutation

Souza, Vinicius Carrera; Vinhas, Christiana de Freitas; Miguel, Diego; Athanazio, Daniel Abensur; Trpkov, Kiril

doi:10.1111/pin.12688

Cited by 5 publications

(5 citation statements)

References 5 publications

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“…Another study determined both BRCA2 and ATM variants had the lowest RCC risk in comparison with eight other genes involved in double-strand break repair 18. There are several reported cases of BRCA2 mutations RCC patients, but the significance and impact of these mutations are unknown 8 19. Notably, an ATM single-nucleotide polymorphism (rs611646) had increased risk of developing RCC 20.…”

Section: Discussionmentioning

confidence: 99%

Two synchronous malignancies: nodular melanoma and renal cell carcinoma in a patient with an underlying germlineBRCA2mutation

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In³

2019

BMJ Case Rep

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Modernised genetic testing among patients with cancer has led to an increasing wealth of knowledge regarding cancer biology and aetiology. Furthermore, some germline mutations have the potential to direct therapeutic approaches as well. While BRCA1/2 mutations are well-established risk factors for breast and ovarian cancers, their impact on other cancers is less understood. We describe a patient with a germline BRCA2 mutation who developed synchronous melanoma and renal cell carcinoma, but responded well to treatment and is now cancer free.

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Section: Discussionmentioning

confidence: 99%

Two synchronous malignancies: nodular melanoma and renal cell carcinoma in a patient with an underlying germlineBRCA2mutation

Snow

Ricker

In³

2019

BMJ Case Rep

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“…We recently encountered an unusual high‐grade RCC that closely resembled FH‐deficient RCC morphologically in a patient who did not have FH mutation and clinical stigmata of HLRCC, but showed a BRCA2 mutation. Abnormal BRCA2 status is an exceptionally rare finding in any RCC patient, and we posited that this case may potentially represent a novel and emerging type or a variant of RCC …”

Section: Fh‐deficient Rccmentioning

confidence: 96%

“…Abnormal BRCA2 status is an exceptionally rare finding in any RCC patient, and we posited that this case may potentially represent a novel and emerging type or a variant of RCC. 96 Biphasic squamoid papillary RCC Two cases designated as 'biphasic alveolo-squamoid renal carcinoma' were initially reported in 2012 by Petersson et al 97 One of these two cases was later included in a larger series of 21 cases put together by Hes et al (the second initial case was excluded and was considered to be 'unclassified RCC'). 98 They presented a detailed clinicopathological, immunohistochemical and molecular evaluation, and highlighted the key feature of this entity, which is the presence of biphasic morphology representing two cell populations: larger eosinophilic cells with abundant cytoplasm and higher-grade nuclei, forming aggregates or nests resembling alveolar structures; and a population of smaller cells with amphophilic or clear and scant cytoplasm, admixed with the larger cells.…”

Section: Fh-deficient Rccmentioning

confidence: 99%

New and emerging renal entities: a perspective post‐WHO 2016 classification

2018

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Renal tumours include a heterogeneous and diverse spectrum of neoplasms. Recent advances in this field have significantly improved our understanding of the morphological, immunohistochemical, molecular, epidemiological and clinical characteristics of renal tumours, which led to the new Vancouver classification of renal neoplasia and the new World Health Organization (WHO) classification of renal cell tumours. This review aims to summarise the new information and evidence on several new and emerging/provisional renal entities, which were mostly generated after the recent classification of renal neoplasia. We include in this review the following new and emerging/provisional renal entities: succinate dehydrogenase‐deficient renal cell carcinoma, thyroid‐like follicular carcinoma of the kidney, anaplastic lymphoma kinase rearrangement‐associated renal cell carcinoma, renal cell carcinomas with prominent smooth muscle stroma, fumarate hydratase‐deficient renal cell carcinoma, biphasic squamoid papillary renal cell carcinoma, eosinophilic solid and cystic renal cell carcinoma, atrophic kidney‐like renal cell carcinoma, clear cell renal cell carcinoma with giant cells and emperipolesis, Warthin‐like papillary renal cell carcinoma, and low‐grade oncocytic renal tumour (CD117‐negative; cytokeratin 7‐positive). Some of these entities, such as succinate dehydrogenase‐deficient renal cell carcinoma, have already been recognised as new entities in the WHO classification, and some have been recognised as provisional/emerging entities. However, we include in this review several additional entities that, on the basis of the published evidence, also warrant this designation. We hope that this review will ease the navigation through this complex and evolving field, and will inform and stimulate new studies and discussions.

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“…Although germline mutations of BRCA2 have been related to an increased familial risk for breast and ovarian cancer and possibly a wider spectrum of cancers, the association with RCC remains unclear ( Mersch et al., 2015 ). Nevertheless, heterozygous germline mutations in BRCA2 have already been reported in adult RCC cases ( Carlo et al., 2018 ; Souza et al., 2018 ).…”

Section: Resultsmentioning

confidence: 99%