RESUMO
BACKGROUND: Pelvic organ prolapse (POP) is greatly affecting the quality of life (QOL) of women. There are some surgical techniques for POP repair, for example, transvaginal mesh surgery (TVM), laparoscopic sacrocolpopexy (LSC), and robot-assisted sacrocolpopexy (RSC). In the United States and Europe, the number of TVM has rapidly decreased since 2011 due to complications and safety concerns and has shifted to LSC/RSC. In Japan, RSC has increased after the insurance coverage of RSC in 2020. Therefore, we compared the surgical outcomes of TVM and RSC in POP surgery. METHODS: We retrospectively collected POP surgery underwent TVM or RSC at our hospital and compared the operative time, blood loss, postoperative hospital stay, postoperative complications, and preoperative and postoperative stress urinary incontinence (SUI) of two groups. Preoperative and postoperative SUI were classified into 3 groups: "improved preoperative SUI", "persistent preoperative SUI" and "de novo SUI", which occurred for the first time in patients with no preoperative SUI, and compared incidence rate. The Mann-Whitney U test and Fisher's exact test were used to compare the two groups, and P < 0.05 was considered statistically significant. RESULTS: From August 2011 to July 2021, 76 POP surgery was performed and they were classified into two groups: TVM group (n = 39) and RSC group (n = 37). There was no difference in patient age and BMI between the TVM and RSC groups. The median of operative time was 78.0 vs. 111.0 min (p = 0.06), blood loss was 20.0 ml vs. 5.0 ml (p < 0.05), and postoperative hospital stay was 4.0 days vs. 3.0 days (p < 0.05), with less blood loss and shorter postoperative hospital stay in the RSC group. There was no difference in postoperative complications between the TVM and RSC groups (17.9% vs. 16.2%, p = 1.00). De novo SUI was 25.6% vs. 5.4% (p < 0.05) in the TVM and RSC groups, of which 23.1% vs. 5.4% (p < 0.05) occurred within 3 months of surgery. CONCLUSION: RSC is more beneficial and less invasive for patients with pelvic organ prolapse than TVM. In addition, de novo SUI as postoperative complication of RSC was lower than of TVM.
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Prolapso de Órgão Pélvico , Robótica , Incontinência Urinária por Estresse , Feminino , Humanos , Prolapso de Órgão Pélvico/cirurgia , Complicações Pós-Operatórias/epidemiologia , Qualidade de Vida , Estudos Retrospectivos , Telas Cirúrgicas , Incontinência Urinária por Estresse/complicações , Incontinência Urinária por Estresse/cirurgiaRESUMO
BRCA1/2 variants are prognostic biomarkers for hereditary breast and/or ovarian cancer (HBOC) syndrome and predictive biomarkers for PARP inhibition. In this study, we benchmarked the classification of BRCA1/2 variants from patients with HBOC-related cancer using MH BRCA, a novel computational technology that combines the ACMG guidelines with expert-curated variant annotations. Evaluation of BRCA1/2 variants (n = 1040) taken from four HBOC studies showed strong concordance within the pathogenic (98.1%) subset. Comparison of MH BRCA's ACMG classification to ClinVar submitter content from ENIGMA, the international consortium of investigators on the clinical significance of BRCA1/2 variants, the ARUP laboratories, a clinical testing lab of the University of UTAH, and the German Cancer Consortium showed 99.98% concordance (4975 out of 4976 variants) in the pathogenic subset. In our patient cohort, refinement of patients with variants of unknown significance reduced the uncertainty of cancer-predisposing syndromes by 64.7% and identified three cases with potential family risk to HBOC due to a likely pathogenic variant BRCA1 p.V1653L (NM_007294.3:c.4957G > T; rs80357261). To assess whether classification results predict PARP inhibitor efficacy, contextualization with functional impact information on DNA repair activity were performed, using MH Guide. We found a strong correlation between treatment efficacy association and MH BRCA classifications. Importantly, low efficacy to PARP inhibition was predicted in 3.95% of pathogenic variants from four examined HBOC studies and our patient cohort, indicating the clinical relevance of the consolidated variant interpretation.
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Neoplasias da Mama/genética , Genes BRCA1 , Genes BRCA2 , Neoplasias Ovarianas/genética , Inibidores de Poli(ADP-Ribose) Polimerases/farmacologia , Biomarcadores Tumorais/genética , Neoplasias da Mama/sangue , Neoplasias da Mama/diagnóstico , Biologia Computacional , Reparo do DNA , Feminino , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Predisposição Genética para Doença , Testes Genéticos , Variação Genética , Mutação em Linhagem Germinativa , Alemanha , Humanos , Japão , Masculino , Neoplasias Ovarianas/sangue , Neoplasias Ovarianas/diagnóstico , Neoplasias da Próstata/sangue , Neoplasias da Próstata/genética , Reprodutibilidade dos Testes , Estudos RetrospectivosRESUMO
Brain metastases (BM) from epithelial ovarian cancer (EOC) or primary peritoneal cancer (PPC) are extremely rare, accounting for 1-2.5% of all cases. Although therapeutic options, such as surgery, irradiation and chemotherapy are proven to yield survival benefit, the overall prognosis of these patients remains unsatisfactory. Poly (adenosine diphosphate-ribose) polymerase (PARP) inhibitor, olaparib is useful for patients with recurrent EOC or PPC. However, reports suggesting the efficacy of PARP inhibitors for patients with EOC or PPC with BM are limited. We report the case of a 58-year-old Japanese woman with recurrent PPC with multiple BM. After obtaining informed consent from the patient, we performed BRCA testing that detected a deleterious BRCA 1 mutation. At that time, olaparib was not yet approved in Japan, we learned about the compassionate use program of olaparib called Managed Access Program (MAP). Of note, we have established a system to enroll patients in MAP. After olaparib treatment, the patient exhibited a considerable decrease of BMs. Eighteen months since the initiation of olaparib treatment, the patient has reported no evidence of disease progression. Olaparib maintenance treatment could be effective for Japanese patients with PPC and multiple BMs.
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Antineoplásicos/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Cistadenocarcinoma Seroso/tratamento farmacológico , Neoplasias Peritoneais/tratamento farmacológico , Ftalazinas/uso terapêutico , Piperazinas/uso terapêutico , Neoplasias Encefálicas/secundário , Cistadenocarcinoma Seroso/secundário , Feminino , Humanos , Japão , Pessoa de Meia-Idade , Neoplasias Peritoneais/patologia , Resultado do TratamentoRESUMO
Utility of combined annotation-dependent depletion (CADD) score was recently reported to rank pathogenicity as C-scores ranging 1-99 for both confirmed deleterious mutation. Using C-scores for BRCA1/2 variants, we tried to constitute the classification system for variant of uncertain significance (VUS), which had been a major problem of genetic testing for hereditary breast and/or ovarian cancer. We analyzed BRCA1/2 genes for 283 patients with breast and/or ovarian cancer. The deleterious mutation and missesne mutations, minor variant, and wild type of BRCA1 and -2 were 5, 27, 251 and 15, 85, 183, respectively. Meanwhile, the variants with C-score ≥10 were involved in 19/283 (6.7%) in BRCA1 and 34/283 (12%) in BRCA2. All deleterious mutations were included in this group. Frequency of personal history and family history of ovarian cancer were significantly high, and frequency of serous adenocarcinoma of ovary and triple negative breast cancer was relatively high in the group with deleterious mutations. Similar findings were seen in patients with variants of C-score ≥10. According to the C-score and population frequency, we could define VUS for 11 patients out of 283 patients (3.9 CADD is useful to classify the variant of BRCA1/2 and selecting the patient who needs further segregation studies.
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Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Variação Genética , Neoplasias Ovarianas/genética , Adulto , Idoso , Neoplasias da Mama/classificação , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Neoplasias Ovarianas/classificação , Linhagem , Análise de Sequência de DNA , Deleção de SequênciaRESUMO
BACKGROUND: The contribution of BRCA1 and BRCA2 to ovarian cancer in Japanese patients is still unclear. This study investigated the frequency of germline mutations in BRCA1/2 in Japanese patients with ovarian, peritoneal, or fallopian tube cancer, regardless of their family histories, which were suggestive of hereditary breast and ovarian cancer. METHODS: Ninety-five unselected women with ovarian cancer who were seen from 2013 to 2015 at Yamanashi Prefectural Central Hospital were enrolled. Analyses of BRCA1/2 gene mutations were performed with next-generation sequencing. RESULTS: Twelve of the 95 patients (12.6%), including 5 in the BRCA1 (5.3%) and 7 in the BRCA2 (7.4%), had deleterious mutations. Among the 36 cases with a family history, 6 (16.7%) were found to carry mutations in BRCA1 and BRCA2. Notably, 6 of the 59 cases (10.2%) without a family history also had BRCA1/2 germline mutations. There was no statistical difference between the 2 groups (P = .36). The presence of mutations and their clinical relevance were studied. Mutation carriers were diagnosed at advanced stages (100% of positive cases among stage III or IV cases) and had poor prognostic histological subtypes (100% of positive cases had high-grade serous adenocarcinomas). CONCLUSIONS: In this unselected Japanese population, approximately 13% of the cases with ovarian cancer appeared to be associated with an inherited risk, regardless of a family history. This finding indicates that BRCA1/2 genetic testing should be performed for all patients with ovarian cancers.
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Povo Asiático/genética , Neoplasias das Tubas Uterinas/genética , Genes BRCA1 , Genes BRCA2 , Mutação em Linhagem Germinativa , Neoplasias Ovarianas/genética , Neoplasias Peritoneais/genética , Adulto , Idoso , Neoplasias das Tubas Uterinas/patologia , Feminino , Predisposição Genética para Doença , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/patologia , Linhagem , Neoplasias Peritoneais/patologiaRESUMO
BACKGROUND: PALB2 (Partner and Localizer of BRCA2) was identified as a moderate-risk gene in breast and pancreatic cancers. Recently, it was reported that PALB2 carriers have a high risk of developing breast cancer, with the cumulative risk of 34 % by the age of 70. PATIENTS AND METHODS: Peripheral blood samples from 155 patients at risk for hereditary breast and/or ovarian cancer were tested for BRCA1/2 and PALB2 by targeted sequencing using a next-generation sequencer. Of these 155, 146 met NCCN criteria and the remaining 9 did not. RESULTS: BRCA1/2 analysis was performed on 155 patients, for whom the results were reported previously (Hirotsu Y et al. Mol Genet Genomic Med, doi:10.1002/mgg3.157, 2015). Eleven patients were identified to have deleterious BRCA mutations (Hirotsu Y et al. Mol Genet Genomic Med, doi:10.1002/mgg3.157, 2015). However, none of the 155 patients were found to have deleterious PALB2 germline mutations. Missense mutations [variants of uncertain significance (VUS)] of PALB2 were found in 12 cases. In silico analyses by SIFT (Sorting Intolerant Form Tolerant) and PolyPhen2 (Polymorphism Phenotyping version 2) indicated that 2 of 12 VUS were deleterious and probably damaging. CONCLUSIONS: This is the first report on PALB2 mutations in Japan, revealing two missense mutations as "deleterious and probably damaging" by in silico analyses, but no PALB2 premature truncation mutations were identified. The sample size is relatively small and a larger cohort study is needed in Japan.
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Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Mutação/genética , Proteínas Nucleares/genética , Neoplasias Ovarianas/genética , Proteínas Supressoras de Tumor/genética , Estudos de Coortes , Proteína do Grupo de Complementação N da Anemia de Fanconi , Feminino , Predisposição Genética para Doença , Humanos , Japão , Pessoa de Meia-Idade , Linhagem , PrognósticoRESUMO
This study aimed to assess the status of abdominal wall adhesions resulting from prior surgeries and their impact on the outcomes of robotic surgery. We retrospectively reviewed clinical information, surgical outcomes, and the status of abdominal wall adhesions in patients who underwent gynecologic robotic surgery at Yamanashi Central Hospital, between April 2018 and March 2023. Abdominal wall adhesions were classified into seven locations and their presence was assessed at each site. Among the 768 cases examined, 196 showed the presence of abdominal wall adhesions. Notably, patients with a history of abdominal surgery exhibited a significantly higher incidence of abdominal wall adhesions than those without such surgical history, although no significant difference was observed in the frequency of adhesions in the upper left abdomen. Patients with a history of gynecologic, gastrointestinal, or biliopancreatic surgeries were more likely to have adhesions at the umbilicus or upper abdomen sites where trocars are typically inserted during robotic surgery. Although cases with abdominal wall adhesions experienced longer operative times than those without, there was no significant difference in estimated blood loss. In 13 cases (1.7%), adjustments in trocar placement were necessary due to abdominal wall adhesions, although none of the cases required conversion to open or conventional laparoscopic surgery. Abdominal wall adhesions pose challenges to minimally invasive procedures, emphasizing the importance of predicting these adhesions based on a patient's surgical history to safely perform robotic surgery. These results suggest that the robot's flexibility proves effective in managing abdominal wall adhesions.
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Parede Abdominal , Laparoscopia , Procedimentos Cirúrgicos Robóticos , Robótica , Humanos , Feminino , Procedimentos Cirúrgicos Robóticos/métodos , Parede Abdominal/cirurgia , Estudos Retrospectivos , Laparoscopia/efeitos adversosRESUMO
OBJECTIVE: To determine the useful biomarker for predicting the effects of poly-(ADP ribose)-polymerase (PARP) inhibitors in Japanese patients with ovarian cancer. METHODS: We collected clinical information and performed molecular biological analysis on 42 patients with ovarian, fallopian tube, and primary peritoneal carcinomas who received PARP inhibitors. RESULTS: Among the analyzed patients with ovarian cancer, 23.8% had germline BRCA mutation (gBRCAm), 42.9% had homologous recombination repair-related gene mutation (HRRm), and 61.1% had a genomic instability score (GIS) of ≥42. Patients with HRRm had a significantly longer progression-free survival (PFS) than those without HRRm (median PFS 35.6 vs. 7.9 months; p=0.009), with a particularly marked increase in PFS in patients with gBRCAm (median PFS 42.3 months). Similarly, among patients with recurrent ovarian cancer, those with HRRm had a longer PFS than those without HRRm (median PFS 42.3 vs. 7.7 months; p=0.040). Multivariate Cox proportional hazards regression analysis found that performance status and gBRCAm status were independent factors associated with prolonged PFS with PARP inhibitors. In recurrent ovarian cancer, multivariate regression analysis identified platinum-free interval (PFI) in addition to performance status as a significant predictor of PFS. On the contrary, no significant association was observed between PFS and a GIS of ≥42 used in clinical practice. CONCLUSION: We found that HRRm can be a useful biomarker for predicting the effects of PARP inhibitors in treating ovarian cancer and that the PFI can also be useful in recurrent ovarian cancer.
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Biomarcadores Tumorais , Neoplasias Ovarianas , Inibidores de Poli(ADP-Ribose) Polimerases , Intervalo Livre de Progressão , Humanos , Feminino , Inibidores de Poli(ADP-Ribose) Polimerases/uso terapêutico , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/mortalidade , Pessoa de Meia-Idade , Idoso , Biomarcadores Tumorais/genética , Adulto , Mutação em Linhagem Germinativa , Instabilidade Genômica , Idoso de 80 Anos ou mais , Neoplasias das Tubas Uterinas/tratamento farmacológico , Neoplasias das Tubas Uterinas/genética , Neoplasias das Tubas Uterinas/mortalidade , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/tratamento farmacológico , Neoplasias Peritoneais/tratamento farmacológico , Neoplasias Peritoneais/genética , Reparo de DNA por Recombinação/genética , Reparo de DNA por Recombinação/efeitos dos fármacosRESUMO
We compared the effectiveness of conventional total laparoscopic hysterectomy (TLH) against robot-assisted total hysterectomy (RAH) in patients with a large uterus. According to the subtype of minimally invasive hysterectomy performed for benign indications, the patients (n = 843) were grouped as follows: TLH (n = 340) and RAH (n = 503). The median operative time (OT) for TLH was 98 min (47-406 min), and the estimated blood loss (EBL) was 50 mL (5-1800 mL). The median OT for RAH was 90 min (43-251 min), and the EBL was 5 mL (5-850 mL), with a significantly shorter OT and a lower EBL in RAH than in TLH. Uterine weight was categorized into four groups in increments of 250 g. The number of cases in each group was 163 (< 250 g), 116 (250-500 g), 41 (500-750 g), and 20 (≥ 750 g) for TLH, and 308 (< 250 g), 137 (250-500 g), 33 (500-750 g), and 25 (≥ 750 g) for RAH. In patients with a uterus < 250 g, there was no significant difference in OT between TLH and RAH, but in patients with a uterus ≥ 250 g, OT tended to be shorter with RAH, which was also true for a uterus ≥ 750 g. The EBL was significantly lower with RAH compared to TLH, regardless of uterine weight. In patients with a large uterus, the advantages of robotic surgery can be utilized, which may lead to a shorter OT and less EBL.
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Laparoscopia , Procedimentos Cirúrgicos Robóticos , Robótica , Feminino , Humanos , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/métodos , Histerectomia , Útero/cirurgia , Resultado do TratamentoRESUMO
OBJECTIVE: Elucidation of clonal origin of synchronous endometrial and ovarian cancers (SEOs). METHODS: We reviewed 852 patients who diagnosed endometrial and/or ovarian cancer. Forty-five (5.3%) patients were diagnosed as SEOs. We evaluated blood and tissue samples from 17 patients. We analyzed the clonal origins of 41 samples from 17 patients by gene sequencing, mismatch microsatellite instability (MSI) polymerase chain reaction assay and immunohistochemical (IHC) staining of 4 repair genes. RESULTS: Sixteen of 17 patients had at least 2 or more trunk mutations shared between endometrial and ovarian cancer suggesting the identical clonal origins. The shared trunk mutation are frequently found in endometrial cancer of the uterus, suggesting the uterine primary. Four out of 17 (24%) SEOs had mismatch repair (MMR) protein deficiency and MSI-high (MSI-H) states. One case was an endometrial carcinoma with local loss of MSH6 protein expression by IHC staining, and the result of MSI analysis using the whole formalin-fixed, paraffin-embedded specimen was microsatellite stable. In contrast, ovarian tissue was deficient MMR and MSI-H in the whole specimen. This indicated that MMR protein deficiency could occur during the progression of disease. CONCLUSION: Most SEOs are likely to be a single tumor with metastasis instead of double primaries, and their origin could be endometrium. In addition, SEOs have a high frequency of MMR gene abnormalities. These findings not only can support the notion of uterine primary, but also can help to expect the benefit for patients with SEOs by immuno-oncology treatment.
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Carcinoma Endometrioide , Neoplasias do Endométrio , Neoplasias Ovarianas , Deficiência de Proteína , Humanos , Feminino , Carcinoma Endometrioide/patologia , Instabilidade de Microssatélites , Neoplasias do Endométrio/patologia , Neoplasias Ovarianas/patologia , Repetições de Microssatélites/genética , Carcinoma Epitelial do Ovário/genética , Genômica , Deficiência de Proteína/genética , Reparo de Erro de Pareamento de DNA/genética , Proteína 1 Homóloga a MutL/genéticaRESUMO
Whether immunohistochemistry (IHC) of p53 accurately reflects the TP53 mutational status of endometrial carcinoma (EC) has not yet been established. This study aimed to clarify the relationship between p53 IHC and TP53 mutations in EC and to examine whether p53 IHC can be a more convenient prognostic marker than TP53 mutation in EC. We performed p53 IHC staining of EC samples obtained via surgery and genetic analyses using next-generation sequencing. p53 IHC results showed that of the 101 cases, 71 (70%) were wild-type (WT), 12 (12%) were overexpression (OE), and 18 (18%) were in the null group. Missense mutations were found in 9 cases (47.4%) in OE, 2 (10.5%) in null, and 8 (42.1%) in the WT group. Truncating mutations were found in 1 case (8.3%) in OE, 6 (50%) in null, and 5 (41.7%) in the WT group. The 5-year progression-free survival was 0% in OE, 74.8% in null, and 79.0% in the WT group. In the prognosis for each type of TP53 mutation, the 5-year progression-free survival was missense (32.2%), truncating (65.6%), and WT (79.7%). These survival comparisons showed that the p53 IHC OE had the poorest prognosis. These results suggest that the p53 IHC OE is an independent poor prognostic factor for EC and can be used as a simple and rapid surrogate marker for TP53 mutations. Contrastingly, the complete absence of p53 IHC-the null staining pattern-may not accurately predict a TP53 mutation in EC, and it is necessary to be more careful in making the diagnosis of "abnormal."
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Neoplasias do Endométrio , Proteína Supressora de Tumor p53 , Feminino , Humanos , Proteína Supressora de Tumor p53/genética , Genes p53 , Mutação , Prognóstico , Neoplasias do Endométrio/genética , Neoplasias do Endométrio/patologiaRESUMO
BACKGROUND: The objective of this study was to identify the clinical utility of genomic analysis of ascitic fluid cytology (AC) in patients with epithelial ovarian cancer. METHODS: Targeted next-generation sequencing was used to analyze 66 samples from 33 patients who had ovarian (n = 23), fallopian tube (n = 2), and peritoneal (n = 8) carcinoma, and the concordance rate of molecular profiles was compared between surgically resected, formalin-fixed, paraffin-embedded (FFPE) tissues and AC samples. RESULTS: In total, 159 mutations were identified (54 oncogenic mutations and 105 nononcogenic mutations) in 66 DNA samples (33 FFPE tissues and 33 AC samples) from 33 patients. Of the 159 mutations, 57 (35.8%) were shared between surgically resected FFPE tissues and AC samples. However, the concordance rate of the molecular profiles between the 2 was significantly higher for oncogenic mutations compared with nononcogenic mutations (85.1% vs 10.5%; P < .01). Indeed, the AC samples covered all oncogenic mutations (n = 46) that were detected in surgically resected specimens and identified additional mutations (n = 8). CONCLUSIONS: The current results indicated that genomic analysis of AC can identify all of the genetic changes associated with epithelial ovarian cancer to understand tumor characteristics without interventional surgery or biopsy and may play an important role in developing personalized precision medicine.
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Líquido Ascítico , Neoplasias Ovarianas , Carcinoma Epitelial do Ovário , Citodiagnóstico/métodos , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Mutação , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/cirurgiaRESUMO
Germline mutations in BRCA1 and BRCA2 genes (BRCA1/2) predispose to hereditary breast and ovarian cancer syndrome (HBOC), and their dysregulation increases the risk of cancers. The detection of pathogenic BRCA1/2 variants is essential for the diagnosis and prevention of HBOC, and for offering treatment decisions for patients. Therefore, there is a growing demand for the development of accurate, rapid assay systems that simultaneously detect pathogenic variants and copy number alterations. Here, we tested Thermo Fisher Scientific's newly developed Oncomine®BRCA1/2 Panel. We showed that all mutations in standard reference DNA were detected with high accuracy, and that values of allelic fractions were detected with high concordance (R2 = 0.9986). The Oncomine®BRCA1/2 Panel detected 21 pathogenic germline variants in 147 patients with breast and/or ovarian cancer, of which 20 were detected by the previously-launched Ion AmpliSeq™ BRCA1/2 Panel, except for one frameshift mutation. The Oncomine®BRCA1/2 Panel precisely captured one additional frameshift mutation, which is difficult to detect because of the homopolymer site. Large genomic deletion was identified in one sample, which was previously detected by multiplex ligation-dependent probe amplification. Oncomine®BRCA1/2 Panel could accurately detect pathogenic variant and copy number alteration, and be an alternative assay to investigate BRCA1/2 germline and somatic mutations.
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OBJECTIVE: To evaluate the risk of spilling cancer cells during total laparoscopic hysterectomy (TLH) using a uterine manipulator in early-stage endometrial cancer patients. MATERIALS AND METHODS: We conducted a prospective study among women undergoing TLH for Clinical Stage IA endometrial cancer between March 2015 and November 2015. Peritoneal washings before the insertion of the uterine manipulator and after TLH were obtained. The two sets of washings were reviewed by a cytopathologist to determine the presence or absence of malignant cells in a blinded manner. RESULTS: Thirteen endometrial cancer patients (age 39-79 years, median: 62.2 years) were enrolled. The postoperative tumor grades were: G1: 11 (84.6%) and G2: 2 (15.4%). All patients underwent TLH and bilateral salpingo-oophorectomy. Pelvic/para-aortic lymph node dissection was not performed in all cases. Only one patient showed positive peritoneal cytology in the pre-TLH sample. There was high agreement (92.3%) between the two sets of washings in all patients. No patients received postoperative treatment. CONCLUSION: We conclude that fallopian tubal cauterization is sufficient to provide protection from the dissemination of cancer cells into the peritoneal cavity at the time of TLH for endometrial cancers in early stages.
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Partner and localizer of breast cancer 2 (PALB2) was identified as a moderate-risk gene of breast and pancreas cancer. The present authors previously reported that no PALB2 germline mutations with a deleterious frameshift or stop codons were identified in 155 Japanese patients with breast and/or ovarian cancer who were estimated to be at risk of hereditary cancer, according to the National Comprehensive Cancer Network (NCCN) criteria. In the present study, one patient with a deleterious mutation of PALB2 (c. 2834+2 T>C) has been identified from a study of an additional 128 cases. Therefore, the prevalence of PALB2 among Japanese patients is now estimated to be 0.35% (1/283). The proband was a 63-year-old woman with bilateral breast cancer, although she had experienced no other cancers. The proband had two elder sisters, the eldest of whom died from pancreatic cancer at 60 years of age. The proband's 40-year-old daughter was affected, but did not show any malignancies. There are only a few reports concerning PALB2 mutations in Japan. To the best of our knowledge, this is the first case study to reveal the significance of DNA-repair genes in the development of malignancies in Japanese patients with breast cancer.
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BACKGROUND: To assess the efficacy of screening with concurrent liquid-based cytology and human papillomavirus (HPV) testing for primary cervical cancer screening, we initiated a randomized trial entitled CervIcal cancer screening Trial by Randomization of HPV testing intervention for Upcoming Screening (CITRUS). METHODS: Between June 2013 and March 2015, women aged 30-64 years of age who participated in a regular cervical cancer screening program (every 2 years) were invited to enrollment of our study. After giving their informed consent, 18,402 women were randomly assigned to liquid-based cytology as the control group (n=9145) or to HPV DNA testing with liquid-based cytology as the intervention group (n=9257). We subsequently compared the incidence rate of cervical intraepithelial neoplasia (CIN), the rate of false positive tests and the rate of overdiagnosis, as well as assessing the risks and benefits of receiving screening for women in both groups. The primary outcome of our study was the incidence of cervical intraepithelial neoplasia grade 3 or worse (CIN3+) during the study period of around 6 years. RESULTS: In the control group, 97.9% of women were NILM, and 2.06% ASC-US or worse (ASC-US+). In the intervention group, 87.13% of women were NILM/HPV negative, 0.72% ASC-US/HPV negative, 10.34% NILM/HPV positive, 0.69% ASC-US/HPV positive, 0.90% worse than ASC-US/either HPV. Positive HPV testing was not linearly related to age in our study. CONCLUSIONS: Insights from CITRUS will provide future prospects for cervical cancer screening focused on the use of HPV testing in Japan. CLINICAL TRIAL REGISTRATION NUMBER: NCT01895517, UMIN000010843, TRIUC1312.
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Detecção Precoce de Câncer/métodos , Técnicas de Diagnóstico Molecular , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/diagnóstico , Projetos de Pesquisa , Displasia do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/diagnóstico , Adulto , Estudos de Casos e Controles , DNA Viral/análise , Intervenção Médica Precoce , Feminino , Humanos , Incidência , Japão/epidemiologia , Pessoa de Meia-Idade , Papillomaviridae/genética , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/virologia , Valor Preditivo dos Testes , Neoplasias do Colo do Útero/epidemiologia , Neoplasias do Colo do Útero/virologia , Esfregaço Vaginal , Displasia do Colo do Útero/epidemiologia , Displasia do Colo do Útero/virologiaRESUMO
Pseudomyxoma peritonei (PMP) is an unusual condition in which massive amounts of mucinous ascites in conjunction with mucinous peritoneal and omental implants occur. We herein report a case of PMP due to low-grade appendiceal neoplasm (LAMN) and a literature review to clarify the clinical features of PMP. A 68-year-old female suffered from anorexia and abdominal distension and was referred to the emergency department of our hospital. Right-side inguinal hernia and uterine prolapse were revealed by a physical examination. Abdominal computed tomography at admission indicated massive ascites and a ruptured cystic mass in the lower-right abdomen. We diagnosed the patient with a ruptured appendiceal mucinous adenoma and PMP and scheduled a laparotomy. We performed an appendectomy containing the cystic mass, bilateral oophorectomy, and a biopsy for the peritoneum. We irrigated the abdominal cavity using 3000 ml of dextran solution. The macroscopic findings showed a ruptured cystic mass measuring 5 × 4 cm arising from the middle of the appendix. The bilateral ovaries and peritoneum were also covered with yellow mucin. The pathologic findings revealed the presence of low-grade atypical cells inside the capsule. However, no tumor cells were found on the surface of the ovary or peritoneum. A literature review revealed that the prognosis of PMP due to LAMN is relatively good, with a 5-year survival rate of 80%, and hernia is occasionally caused by PMP. According to this literature review, we knew this case might be a typical case. However, PMP is very rare; we need further follow-up data to select an optimal treatment for preventing the relapse of PMP.
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Spinal anesthesia is regularly performed worldwide and is an integral part of the modern day anesthesia practice. Although unexpected cardiac arrests during this procedure are very rare, medical professionals should be aware of the potential for this complication. In making the decision to use spinal anesthesia, judicious patient selection, adequate preventive measures, and strict monitoring are important.