Somatic genomic landscape of East Asian epithelial ovarian carcinoma and its clinical implications from prospective clinical sequencing: A Korean Gynecologic Oncology Group study (<scp>KGOG</scp> 3047)

Jason, K.; Kim, Jihye; Kang, Sokbom; Kim, Sang Wun; Song, Taejong; Shim, Seung‐Hyuk; Choi, Min Chul; No, Jae Hong; Song, Jisun; Kim, Deokhoon; Kim, Yong‐Man; Kim, Jae-Hoon; Lee, Jeong-Won

doi:10.1002/ijc.34150

Cited by 4 publications

(3 citation statements)

References 56 publications

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“…TP53 mutations have been associated with poor prognosis and early recurrence, while patients with BRCA gene mutations may benefit from Poly(ADP-Ribose) Polymerase 1 (PARP) therapy. 17 Our patient had a good prognosis which may be due to the lack of p53 mutations. However, further comprehensive studies are needed to deepen our understanding of these molecular characteristics and their clinical implications.…”

Section: Discussionmentioning

confidence: 70%

Pure large-cell neuroendocrine carcinoma of the ovary with a somatic BRCA1 mutation: The first reported case and the review of the literature

Wang,

Gao,

Wang

et al. 2024

SAGE Open Medical Case Reports

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Pure large-cell neuroendocrine carcinomas of the ovary are extremely rare, so there is a lack of molecular information on this type of cancer. Herein, we presented a pure primary large-cell neuroendocrine carcinomas of the ovary in a 72-year-old female with a pathogenic somatic mutation at the c.5332+1g>a splice site of the BRCA1 gene and with no TP53 mutation. She was uneventful 32 months after the operation and chemotherapies. To the best of our knowledge, this is the first report of a BRCA1 somatic mutation in the ovary large-cell neuroendocrine carcinomas. Testing BRCA1/2 mutations in patients with large ovarian cell neuroendocrine carcinomas might provide an opportunity for their future target treatments. It would expand our understanding.

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Section: Discussionmentioning

confidence: 70%

Pure large-cell neuroendocrine carcinoma of the ovary with a somatic BRCA1 mutation: The first reported case and the review of the literature

Wang,

Gao,

Wang

et al. 2024

SAGE Open Medical Case Reports

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“…KRAS mutation is reportedly associated with poor prognosis in patients with different cancer types [ 21 , 22 , 23 , 24 , 25 , 26 ]. However, mutational data on PHC are few and controversial.…”

Section: Discussionmentioning

confidence: 99%

The Impact of KRAS Mutational Status on Long-Term Survival following Liver Resection for Hilar Cholangiocarcinoma

Ardito

Razionale

Campisi

et al. 2022

Cancers

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KRAS mutation is reportedly associated with poor prognosis in patients with different cancer types. However, mutational data on hilar cholangiocarcinoma are few and controversial. The aim of this study was to evaluate the rate of KRAS mutations in a single-center homogeneous population resected for hilar cholangiocarcinoma and the subsequent impact on prognosis. KRAS mutation status was evaluated in 54 patients undergoing major hepatectomy combined with resection of the main biliary confluence and regional lymphadenectomy for hilar cholangiocarcinoma between 2001 and 2019. Among these 54 patients, 12 (22.2%) had a KRAS mutation. KRAS mutation was not related with pathologic characteristics of the tumor. Five-year overall survival (OS) in patients with KRAS mutation was significantly lower than that observed in patients with KRAS wild type (0 vs. 49.2%, respectively; p = 0.003). In the multivariable analysis; independent predictors of poor OS were KRAS mutation (HR = 5.384; p = 0.003) and lymph node metastases (HR = 2.805; p = 0.023). The results of our study suggested that KRAS mutation in hilar cholangiocarcinoma was not rarely observed. KRAS mutation was an independent strong predictor of poor OS. KRAS mutation analysis should be included in the routine pathologic evaluation of resected hilar cholangiocarcinoma in order to better stratify prognosis

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“…Importantly, Su et al detected concurrent ARID1A-PIK3CA mutations in nearly 45% of samples, as well as the existence of three co-occurring gene alterations, namely ARID1A-KRAS-PIK3CA and ARID1A-CREBBP-PIK3CA [ 88 ]. In a recent Korean Gynecologic Oncology Group study, repetitive mutations in genes coding for molecules participating in the PI3K/AKT pathway like PIK3CA and PTEN were identified in OCCCs and EnOCs, indicating the therapeutic potential of PI3K-targeting treatment for these tumors [ 89 ]. In the same vein, Kim et al discovered a high frequency of mutations in PIK3CA and ARID1A genes in a cohort of Korean OCCC patients, noting no significant difference in genetic alterations between endometriosis-associated and non-endometriosis-associated OCCCs [ 85 ].…”

Section: The Role Of Mtor Signaling In Endometriosis-associated Ovari...mentioning

confidence: 99%

Endometriosis-Associated Ovarian Carcinomas: How PI3K/AKT/mTOR Pathway Affects Their Pathogenesis

2023

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Ovarian clear cell (OCCC) and endometrioid (EnOC) carcinomas are often subsumed under the umbrella term “endometriosis-associated ovarian cancer” (EAOC), since they frequently arise from ectopic endometrium settled in the ovaries. The phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT)/mammalian target of rapamycin (mTOR) pathway is known to be aberrantly activated both in endometriosis and EAOC; however, its role in the progression of endometriosis to ovarian cancer remains unclear. In fact, cancer-associated alterations in the mTOR pathway may be found in normal uterine epithelium, likely acting as a first step towards ovarian cancer, through the intermediary stage of endometriosis. This review aims to summarize the current knowledge regarding mTOR signaling dysregulation in the uterine endometrium, endometriosis, and EAOC while focusing on the interconnections between the PI3K/AKT/mTOR pathway and other signaling molecules that give rise to synergistic molecular mechanisms triggering ovarian cancer development in the presence of endometriosis.

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Somatic genomic landscape of East Asian epithelial ovarian carcinoma and its clinical implications from prospective clinical sequencing: A Korean Gynecologic Oncology Group study (KGOG 3047)

Cited by 4 publications

References 56 publications

Pure large-cell neuroendocrine carcinoma of the ovary with a somatic BRCA1 mutation: The first reported case and the review of the literature

Pure large-cell neuroendocrine carcinoma of the ovary with a somatic BRCA1 mutation: The first reported case and the review of the literature

The Impact of KRAS Mutational Status on Long-Term Survival following Liver Resection for Hilar Cholangiocarcinoma

Endometriosis-Associated Ovarian Carcinomas: How PI3K/AKT/mTOR Pathway Affects Their Pathogenesis

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