Clinical characteristics and prognosis of ovarian clear cell carcinoma: a 10-year retrospective study

Zhu, Chenchen; Zhu, Jing; Qian, Lili; Liu, Hanyuan; Shen, Zhen; Wu, Dexiang; Zhang, Weidong; Xiao, Weihua; Ying, Zhe

doi:10.1186/s12885-021-08061-7

Cited by 42 publications

(45 citation statements)

References 40 publications

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“…For example, the frequency of clear cell carcinoma in the United States is about 6%, but the frequency of clear cell carcinoma in Japan is about 25%, which is a four-fold difference [ 45 , 46 ]. It is known that the incidence of endometriosis is high in East Asia [ 47 ], and it is presumed that this is a factor in the higher frequency of clear cell carcinoma that develops from endometriosis than in Western countries [ 48 ]. Especially in Japan, there is a tendency that drug therapy with GnRH agonists and Dienogest is preferred over surgical therapy as a treatment for endometriosis [ 49 ], so there is a relatively high possibility that clear cell carcinoma will develop from an endometriotic cyst.…”

Section: Differences Of the Prevalence Of Germline Brca Mutation In Ovarian Cancer Patientsmentioning

confidence: 99%

Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location

Sekiguchi

Nishino

Enomoto

2021

Genes

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Hereditary breast and ovarian cancer is caused by a germline mutation in BRCA1 or BRCA2 genes. The frequency of germline BRCA1/2 gene mutation carriers and the ratio of germline BRCA1 to BRCA2 mutations in BRCA-related cancer patients vary depending on the population. Genotype and phenotype correlations have been reported in BRCA mutant families, however, the correlations are rarely used for individual risk assessment and management. BRCA genetic testing has become a companion diagnostic for PARP inhibitors, and the number of families with germline BRCA mutation identified is growing rapidly. Therefore, it is expected that analysis of the risk of developing cancer will be possible in a large number of BRCA mutant carriers, and there is a possibility that personal and precision medicine for the carriers with specific common founder mutations will be realized. In this review, we investigated the association of ovarian cancer risk and BRCA mutation location, and differences of other BRCA-related cancer risks by BRCA1/2 mutation, and furthermore, we discussed the difference in the prevalence of germline BRCA mutation in ovarian cancer patients. As a result, although there are various discussions, there appear to be differences in ovarian cancer risk by population and BRCA mutation location. If it becomes possible to estimate the risk of developing BRCA-related cancer for each BRCA mutation type, the age at risk-reducing salpingo-oophorectomy can be determined individually. The decision would bring great benefits to young women with germline BRCA mutations.

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Section: Differences Of the Prevalence Of Germline Brca Mutation In Ovarian Cancer Patientsmentioning

confidence: 99%

Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location

Sekiguchi

Nishino

Enomoto

2021

Genes

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“…Compared with patients with HGSOC, those without HGSOC were diagnosed at an early stage. Approximately 60% of CCC or EC cases and 80% of MCs are discovered and histologically diagnosed at stage I [ 35 , 36 , 37 ]. The therapeutic strategy for non-HGSOC in the early stage was more diverse than that for HGSOC.…”

Section: Discussionmentioning

confidence: 99%

“…The therapeutic strategy for non-HGSOC in the early stage was more diverse than that for HGSOC. MC or LGSOC were eligible for fertility-sparing surgery [ 36 ], even though early-stage patients diagnosed with CCC may not be indicated for fertility-sparing treatment [ 10 , 37 ]. In addition, systematic lymphadenectomy was controversial in early EOC since systematic lymphadenectomy was increased to detect metastatic lesions but was not associated with improved progression-free survival or OS [ 35 ].…”

Section: Discussionmentioning

confidence: 99%

An Application of Machine Learning That Uses the Magnetic Resonance Imaging Metric, Mean Apparent Diffusion Coefficient, to Differentiate between the Histological Types of Ovarian Cancer

Song

Bak

Kim

et al. 2021

JCM

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This retrospective single-center study included patients diagnosed with epithelial ovarian cancer (EOC) using preoperative pelvic magnetic resonance imaging (MRI). The apparent diffusion coefficient (ADC) of the axial MRI maps that included the largest solid portion of the ovarian mass was analysed. The mean ADC values (ADCmean) were derived from the regions of interest (ROIs) of each largest solid portion. Logistic regression and three types of machine learning (ML) applications were used to analyse the ADCs and clinical factors. Of the 200 patients, 103 had high-grade serous ovarian cancer (HGSOC), and 97 had non-HGSOC (endometrioid carcinoma, clear cell carcinoma, mucinous carcinoma, and low-grade serous ovarian cancer). The median ADCmean of patients with HGSOC was significantly lower than that of patients without HGSOCs. Low ADCmean and CA 19-9 levels were independent predictors for HGSOC over non-HGSOC. Compared to stage I disease, stage III disease was associated with HGSOC. Gradient boosting machine and extreme gradient boosting machine showed the highest accuracy in distinguishing between the histological findings of HGSOC versus non-HGSOC and between the five histological types of EOC. In conclusion, ADCmean, disease stage at diagnosis, and CA 19-9 level were significant factors for differentiating between EOC histological types.

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“…Among its variants, epithelial ovarian cancer (EOC) is the most frequent histological subtype, of which ovarian clear cell carcinoma (OCCC) is characterized by a low sensitivity to chemotherapy; hence, it has the worst prognosis and a high frequency of associated deaths in late stage [3][4][5]. OCCC has varying geographical prevalence, ranging from 5-12% in Western countries to 10-30% in Asian countries, such as Japan and South Korea [6,7]. In Denmark, the Danish Gynecologic Cancer Database (DGCD) has reported a frequency varying from 2.1% to 3.4% in the last 5 years [7].…”

Section: Introductionmentioning

confidence: 99%

“…The etiology is still elusive, although women with endometriosis have a higher risk of developing the disease [9]. Patients are diagnosed typically at a younger age (49-58 years old) and at early stage compared to other EOC subtypes [4][5][6]10], where stage I accounts for approximately 60% of all cases [9,10]. Hence, the 5-year overall survival in this subtype can reach up to 90% when found early [4].…”

Section: Introductionmentioning

confidence: 99%

Genomic Sub-Classification of Ovarian Clear Cell Carcinoma Revealed by Distinct Mutational Signatures

Oliveira

Schnack

Poulsen

et al. 2021

Cancers

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Ovarian clear cell carcinoma (OCCC) is characterized by dismal prognosis, partially due to its low sensitivity to standard chemotherapy regimen. It is also well-known for presenting unique molecular features in comparison to other epithelial ovarian cancer subtypes. Here, we aim to identify potential subgroups of patients in order to (1) determine their molecular features and (2) characterize their mutational signature. Furthermore, we sought to perform the investigation based on a potentially clinically relevant setting. To that end, we assessed the mutational profile and genomic instability of 55 patients extracted from the Gynecologic Cancer Database (DGCD) by using a panel comprised of 409 cancer-associated genes and a microsatellite assay, respectively; both are currently used in our routine environment. In accordance with previous findings, ARID1A and PIK3CA were the most prevalent mutations, present in 49.1% and 41.8%, respectively. From those, the co-occurrence of ARID1A and PIK3CA mutations was observed in 36.1% of subjects, indicating that this association might be a common feature of OCCC. The microsatellite instability frequency was low across samples. An unbiased assessment of signatures identified the presence of three subgroups, where “PIK3CA” and “Double hit” (with ARID1A and PIK3CA double mutation) subgroups exhibited unique signatures, whilst “ARID1A” and “Undetermined” (no mutations on ARID1A nor PIK3CA) subgroups showed similar profiles. Those differences were further indicated by COSMIC signatures. Taken together, the current findings suggest that OCCC presents distinct mutational landscapes within its group, which may indicate different therapeutic approaches according to its subgroup. Although encouraging, it is noteworthy that the current results are limited by sample size, and further investigation on a larger group would be crucial to better elucidate them.

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Clinical characteristics and prognosis of ovarian clear cell carcinoma: a 10-year retrospective study

Cited by 42 publications

References 40 publications

Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location

Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location

An Application of Machine Learning That Uses the Magnetic Resonance Imaging Metric, Mean Apparent Diffusion Coefficient, to Differentiate between the Histological Types of Ovarian Cancer

Genomic Sub-Classification of Ovarian Clear Cell Carcinoma Revealed by Distinct Mutational Signatures

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