Derivative Chromosome 3 Loss from t(3;6)(q12;q14) Followed by Differential<i>VHL</i>Mutations Underlie Multifocal ccRCC

Mizutani, Kosuke; Yokoi, Shigeaki; Sawada, Seiya; Sakamoto, Ippei; Kameyama, Koji; Kamei, Shingo; Hirade, Kouseki; Sugiyama, Seiji; Matsunaga, Kengo; Yamada, Tetsuya; Kato, Yasutaka; Nishihara, Hiroshi; Ishihara, Satoshi; Deguchi, Takashi

doi:10.21873/cgp.20356

Cited by 3 publications

(3 citation statements)

References 25 publications

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“…DNA was extracted using Maxwell RSC DNA FFPE Kit-PKK, Custom (Promega, Fitchburg, WI, USA). A multiplex gene assay based on NGS was reported previously (18,19). After quantification of purified DNA using an Agilent 4200 TapeStation, DNA libraries were prepared with DNA (DNA integrity number >3.1) for subsequent genomic sequencing.…”

Section: Dna Isolation and Next-generation Sequencing-based Multiplex...mentioning

confidence: 99%

Impact of Tumor Grade Distribution on Genetic Alterations in Clear Cell Renal Cell Carcinoma and Prostate Cancer

MIZUTANI,

SUGIYAMA,

KAMEYAMA

et al. 2024

Cancer Genomics Proteomics

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Background/Aim: A genomic analysis based on next-generation sequencing is important for deciding cancer treatment strategies. Cancer tissue sometimes displays intratumor heterogeneity and a pathologic specimen may contain more than two tumor grades. Although tumor grades are very important for the cancer prognosis, the impact of higher tumor grade distribution in a specimen used for a genomic analysis is unknown. Patients and Methods: We retrospectively analyzed the data of 61 clear cell carcinoma and 46 prostate cancer patients that were diagnosed between December 2018 and August 2022 using the GeneRead Human Comprehensive Cancer Panel or SureSelect PrePool custom Tier2. Genome annotation and curation were performed using the GenomeJack software. Results: Tumor mutation burden (TMB) was increased in proportion to the higher tumor grade distribution in grade 2 clear cell renal cell carcinoma (ccRCC). In PC, Grade Group 3/4 specimens that included an increased distribution of Gleason pattern 4 had more frequent gene mutations. Conclusion: Our results suggest the importance of selecting the maximum distribution of higher tumor grade areas to obtain results on the precise gene alterations for genomics-focused treatments.Despite recent advances in cancer treatment, advanced cancers are still incurable. Gene mutations in cancer are promising treatment targets (1, 2); thus, the precise detection of genetic alterations gives cancer patients a greater chance to receive genomics-focused treatment. Next-generation sequencing (NGS) technologies have played an important role in the detection of the genetic alterations of cancer (3). Clinically used cancer panel tests based on NGS are performed starting with DNA extracted from formalin-fixed paraffin-embedded sections or with circulating cell-free DNA extracted from blood (1, 4). In samples with <20% tumor cells in formalin-fixed paraffin-embedded sections, the sensitivity in the detection of copy number alterations (CNAs) or mutations may decrease (5, 6). The targeting of the area of the section to be used as the specimen for DNA extraction is usually determined by pathologists in order to maximize tumor cell content. Meanwhile, tumor grade, which is mostly defined by the structure and cytological features including nuclear or morphological atypia, is one of 203

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Section: Dna Isolation and Next-generation Sequencing-based Multiplex...mentioning

confidence: 99%

Impact of Tumor Grade Distribution on Genetic Alterations in Clear Cell Renal Cell Carcinoma and Prostate Cancer

MIZUTANI,

SUGIYAMA,

KAMEYAMA

et al. 2024

Cancer Genomics Proteomics

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“…Molecular and genetic criteria such as loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinomas [6,7], genetic abnormalities in renal cell carcinomas, involving chromosomes 7 and 17 [8][9][10][11], multiple chromosomal losses and/or abnormalities in chromophobe renal cell carcinomas [12,13] are also included to define and classify renal malignancies.…”

Section: Renal Cancer Types and Renal Cancer Incidencementioning

confidence: 99%

PI3K/AKT/mTOR Dysregulation and Reprogramming Metabolic Pathways in Renal Cancer: Crosstalk with the VHL/HIF Axis

Bădoiu

Greabu

Miricescu

et al. 2023

IJMS

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Renal cell carcinoma (RCC) represents 85–95% of kidney cancers and is the most frequent type of renal cancer in adult patients. It accounts for 3% of all cancer cases and is in 7th place among the most frequent histological types of cancer. Clear cell renal cell carcinoma (ccRCC), accounts for 75% of RCCs and has the most kidney cancer-related deaths. One-third of the patients with ccRCC develop metastases. Renal cancer presents cellular alterations in sugars, lipids, amino acids, and nucleic acid metabolism. RCC is characterized by several metabolic dysregulations including oxygen sensing (VHL/HIF pathway), glucose transporters (GLUT 1 and GLUT 4) energy sensing, and energy nutrient sensing cascade. Metabolic reprogramming represents an important characteristic of the cancer cells to survive in nutrient and oxygen-deprived environments, to proliferate and metastasize in different body sites. The phosphoinositide 3-kinase-AKT-mammalian target of the rapamycin (PI3K/AKT/mTOR) signaling pathway is usually dysregulated in various cancer types including renal cancer. This molecular pathway is frequently correlated with tumor growth and survival. The main aim of this review is to present renal cancer types, dysregulation of PI3K/AKT/mTOR signaling pathway members, crosstalk with VHL/HIF axis, and carbohydrates, lipids, and amino acid alterations.

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“…Однако Обзоры Reviews и другими генами-супрессорами, описаны у пациентов с наследственным светлоклеточным РП без других проявлений VHL-синдрома [9]. Часть случаев наследственной (врожденной) патологии обусловлена мозаичными формами наследственных болезней, при которых доля мутантного аллеля может быть менее 10 % и не определяется при стандартных настройках секвенирования по Сэнгеру.…”

Section: синдром хиппеля-линдауunclassified

Hereditary cancer syndromes with increased risk of renal cancer

Mikhaylenko,

Gorban,

Zaletaev

2023

Onkourologiâ

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Renal cancer (RC) is one of the three most common diseases in oncologic urology. Its accurate diagnosis and prognosis remain difficult and important problems. Some cases of RC are associated with hereditary cancer syndromes and are caused by germline mutations. This review describes monogenic forms of hereditary RC (von Hippel–Lindau syndrome, Birt–Hogg– Dubé syndrome, hereditary leiomyomatosis and renal cell cancer, hereditary papillary renal carcinoma, BAP1 tumor predisposition syndrome) and diseases with several candidate genes (SDH-mutated tumors, tuberous sclerosis complex). Additionally, the review discusses the increased risk of RC in patients with frequent hereditary cancer syndromes predisposing to the development of a wide range of tumor types: Lynch and Li-Fraumeni syndromes. RC in combination with other carcinomas can develop in patients carrying pathogenic mutations in the candidate genes of different hereditary cancer syndromes – multi-locus inherited neoplasia allele syndrome (MINAS) – which is especially important due to the growing role of high-throughput sequencing in practical oncologic genetics. Additionally, guidelines on modern laboratory genetic diagnostics and active surveillance are presented for each syndrome.

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Derivative Chromosome 3 Loss from t(3;6)(q12;q14) Followed by DifferentialVHLMutations Underlie Multifocal ccRCC

Cited by 3 publications

References 25 publications

Impact of Tumor Grade Distribution on Genetic Alterations in Clear Cell Renal Cell Carcinoma and Prostate Cancer

Impact of Tumor Grade Distribution on Genetic Alterations in Clear Cell Renal Cell Carcinoma and Prostate Cancer

PI3K/AKT/mTOR Dysregulation and Reprogramming Metabolic Pathways in Renal Cancer: Crosstalk with the VHL/HIF Axis

Hereditary cancer syndromes with increased risk of renal cancer

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