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1.
SAGE Open Med Case Rep ; 12: 2050313X241281275, 2024.
Article in English | MEDLINE | ID: mdl-39253592

ABSTRACT

Tuberculosis is a rare but treatable infectious disease that continues to pose a significant health issue in regions with high prevalence. Its abdominopelvic localization can mimic advanced ovarian cancer, leading to diagnostic challenges. This report describes the case of a 33-year-old woman who was admitted to the gastroenterology unit with ascites, peritoneal thickening, and an ovarian mass on imaging. The diagnosis of abdominopelvic and peritoneal tuberculosis was confirmed after laparoscopy. The patient underwent antitubercular chemotherapy and showed clinical improvement.

2.
Cureus ; 16(8): e66880, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39280471

ABSTRACT

Introduction Detection of gynecological cancers preoperatively is imperative for practitioners for optimal patient management and outcome. This study aimed to estimate the incidence of unexpected malignancy (UM) in patients who underwent hysterectomy or myomectomy for presumed benign indications and to detect the predictive factors of UM. Methods A retrospective analytical study that included patients who underwent hysterectomy or myomectomy for benign indications from January 1st, 2016, to December 31st, 2020, was conducted at the Department of Obstetrics and Gynecology at Salmaniya Medical Complex, Bahrain. The main outcome was the overall incidence of UM and the incidence of each malignancy. Characteristics of UM were compared with benign pathologies. Fisher's exact and Pearson's chi-square tests were used to compare categorical variables and the Mann-Whitney U test or student's t-test for continuous variables. Binary logistic regression was used to identify the predictors of occurrence of UM. Confidence interval (CI) was set at 95%. A probability value (p-value) less than 0.05 was considered statistically significant. Results Out of 513 patients who underwent hysterectomy or myomectomy, 379 (73.9%) fulfilled the inclusion criteria, 314 (82.8%) hysterectomies and 65 (17.2%) myomectomies. The overall incidence of UM was 1.3% (n=5/379), 1.3% (n=4/314) among hysterectomies and 1.5% (n=1/65) among myomectomies. Three (0.8%) pre-malignant pathologies were identified: one (0.26%) smooth muscle tumor of unknown malignant potential, leiomyoma with bizarre nuclei, and mucinous borderline tumor of endocervical type of ovary each. The types of UM were sarcomas in three (0.26%) patients (two (0.5%) leiomyosarcoma and one (0.26%) endometrial stromal sarcoma) and endometrial adenocarcinoma and ovarian cancer in one (0.26%) patient each. No significant difference was found between the characteristics of UM and benign pathologies. Conclusion Although this study demonstrated a low incidence of UM among both hysterectomies and myomectomies, the age at the diagnosis of our patients with UM was as young as 34 years of age, and sarcomas were the most common type of UM. Disconcertingly, none of the studied independent variables had significantly predicted the occurrence of UM.

3.
J Midlife Health ; 15(2): 119-121, 2024.
Article in English | MEDLINE | ID: mdl-39145260

ABSTRACT

Endosalpingiosis is a nonneoplastic lesion defined by the presence of tubal epithelium at ectopic sites such as the peritoneum, bladder, appendix, and even uterus. They may be asymptomatic and detected incidentally on ultrasonography. However, cystic endosalpingiosis is also known to be a mimicker of ovarian neoplasms. It is crucial for both the clinician and the pathologist to be aware of this benign lesion so that overdiagnosis and overtreatment can be avoided. We report a case of endosalpingiosis of the uterine serosa in a 45-year-old woman which was misdiagnosed as an adnexal cyst on radiological investigations.

4.
Cureus ; 16(7): e63554, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39087154

ABSTRACT

Ovarian Sertoli-Leydig cell tumors (SLCT) are extremely rare malignant tumors deriving from the sex cord stroma. An abdominal mass and a virilization syndrome dominate the clinical symptoms. This particular tumor poses diagnostic and therapeutic problems. Prognosis depends on staging (the International Federation of Gynecology and Obstetrics (FIGO)/tumor, node, metastasis (TNM)) and differentiation. The treatment is surgical, combined with adjuvant chemotherapy in certain cases. We report the case of a three-year-old girl admitted to our department for signs of virilization with an abdominal mass. The literature does not contain any reports of a younger case. Ovarian SLCTs should be considered in every girl presenting with signs of virilization and a lower abdominal mass. The prognosis and management depend on the results of the histological analysis and extension evaluation in order to define therapeutic management.

5.
Acta Obstet Gynecol Scand ; 103(10): 2053-2060, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39082924

ABSTRACT

INTRODUCTION: Our objective was to determine whether the educational game SonoQz can improve diagnostic performance in ultrasound assessment of ovarian tumors. MATERIAL AND METHODS: The SonoQz mobile application was developed as an educational tool for medical doctors to practice ultrasound assessment, based on still images of ovarian tumors. The game comprises images from 324 ovarian tumors, examined by an ultrasound expert prior to surgery. A training phase, where the participants assessed at least 200 cases in the SonoQz app, was preceded by a pretraining test, and followed by a posttraining test. Two equal tests (A and B), each consisting of 20 cases, were used as pre- and posttraining tests. Half the users took test A first, B second, and the remaining took the tests in the opposite order. Users were asked to classify the tumors (1) according to International Ovarian Tumor Analysis (IOTA) Simple Rules, (2) as benign or malignant, and (3) suggest a specific histological diagnosis. Logistic mixed models with fixed effects for pre- and posttraining tests, and crossed random effects for participants and cases, were used to determine any improvement in test scores, sensitivity, and specificity. RESULTS: Fifty-eight doctors from 19 medical centers participated. Comparing the pre- and posttraining test, the median of correctly classified cases, in Simple Rules assessment increased from 72% to 83%, p < 0.001; in classifying the lesion as benign or malignant tumors from 86% to 95%, p < 0.001; and in making a specific diagnosis from 43% to 63%, p < 0.001. When classifying tumors as benign or malignant, at an unchanged level of sensitivity (98% vs. 97%, p = 0.157), the specificity increased from 70% to 89%, p < 0.001. CONCLUSIONS: Our results indicate that the educational game SonoQz is an effective tool that may improve diagnostic performance in assessing ovarian tumors, specifically by reducing the number of false positives while maintaining high sensitivity.


Subject(s)
Mobile Applications , Ovarian Neoplasms , Ultrasonography , Humans , Female , Ovarian Neoplasms/diagnostic imaging , Sensitivity and Specificity , Adult , Clinical Competence
6.
Acta Radiol ; 65(9): 1153-1163, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39043176

ABSTRACT

BACKGROUND: The optimal primary debulking surgery outcome of serous ovarian carcinoma (SOC) is greatly affected by primary ovarian neoplasm or metastatic lesion close to the rectum. PURPOSE: To study the risk factors affecting postoperative residual primary ovarian neoplasm or metastatic lesion close to the rectum of SOC. MATERIAL AND METHODS: The clinical and MRI data of 164 patients with SOC eligible from institution A (training and test groups) and 36 patients with SOC eligible from institution B (external validation group) were collected and retrospectively analyzed. The clinical data included age, serum carbohydrate antigen 125 (CA-125), human epididymis protein 4, and neutrophil-to-lymphocyte ratio (NLR). Magnetic resonance imaging (MRI) data included ovarian mass distribution, maximum diameter of ovarian mass, ovarian mass features, degree of rectal invasion of the primary ovarian neoplasm or metastatic lesion, and amount of ascites. A model was established using multivariate logistic regression. RESULTS: By univariate and multivariate logistic regressions, CA-125 (P = 0.024, odds ratio [OR] = 3.798, 95% confidence interval [CI] = 1.24-13.32), NLR (P = 0.037, OR = 3.543, 95% CI = 1.13-12.72), and degree of rectal invasion of the primary ovarian neoplasm or metastatic lesion (P < 0.001, OR = 37.723, 95% CI = 7.46-266.88) were screened as independent predictors. The area under the curve values of the model in the training, test, and external validation groups were 0.860, 0.764, and 0.778, respectively. CONCLUSION: The clinical-radiological model based on T1-weighted dual-echo MRI can be used non-invasively to predict postoperative residual ovarian neoplasm or metastasis close to SOC in the rectum.


Subject(s)
Magnetic Resonance Imaging , Neoplasm, Residual , Ovarian Neoplasms , Humans , Female , Ovarian Neoplasms/diagnostic imaging , Ovarian Neoplasms/pathology , Ovarian Neoplasms/surgery , Middle Aged , Retrospective Studies , Magnetic Resonance Imaging/methods , Neoplasm, Residual/diagnostic imaging , Aged , Adult , Cystadenocarcinoma, Serous/diagnostic imaging , Cystadenocarcinoma, Serous/surgery , Cystadenocarcinoma, Serous/pathology , Predictive Value of Tests , Rectum/diagnostic imaging , Rectum/pathology , Rectum/surgery , CA-125 Antigen/blood , Rectal Neoplasms/diagnostic imaging , Rectal Neoplasms/pathology , Rectal Neoplasms/surgery , Risk Factors , Cytoreduction Surgical Procedures/methods , Ovary/diagnostic imaging , Ovary/pathology , Ovary/surgery
7.
J Med Case Rep ; 18(1): 290, 2024 Jun 25.
Article in English | MEDLINE | ID: mdl-38915051

ABSTRACT

BACKGROUND: Mature cystic teratomas (MCT) of the ovary are benign ovarian germ cell neoplasms. Malignant transformation is possible but rare and ovarian carcinoid tumors in MCT are among the most extremely rare subtypes. CASE PRESENTATION: We report a case of a 60-year-old Iranian woman suffering from postmenopausal bleeding and hypogastric pain for the last 40 days. An adnexal mass was detected during the physical examination. Ultrasound imaging showed a (55 × 58) mm mass in the left ovary. Total abdominal hysterectomy, bilateral salpingooophorectomy and comprehensive staging surgery were performed for the patient. Intraoperative frozen section of the left ovarian mass was indicative of a malignant tumor. She was diagnosed with a carcinoid tumor with benign mucinous cystadenoma arising on MCT of the ovary, confirmed in the histopathology and immunohistochemistry examination. The tumor was classified as low grade and no chemotherapy cycles were considered. The patient was followed up long-term and no recurrence was observed during 14 months of examinations. CONCLUSION: Ovarian carcinoids arising from MCT are rare neuroendocrine neoplasms, and proper diagnosis of these tumors requires careful histopathology evaluation and appropriate examination. Therefore, it is necessary to consider these tumors as a possible differential diagnosis and evaluate them in individuals (especially postmenopausal women) who have abdominal pain or abnormal bleeding and a palpable mass.


Subject(s)
Carcinoid Tumor , Cystadenoma, Mucinous , Ovarian Neoplasms , Teratoma , Humans , Female , Ovarian Neoplasms/pathology , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/surgery , Middle Aged , Carcinoid Tumor/pathology , Carcinoid Tumor/surgery , Carcinoid Tumor/diagnosis , Carcinoid Tumor/diagnostic imaging , Carcinoid Tumor/complications , Teratoma/pathology , Teratoma/surgery , Teratoma/diagnosis , Teratoma/complications , Teratoma/diagnostic imaging , Cystadenoma, Mucinous/pathology , Cystadenoma, Mucinous/surgery , Cystadenoma, Mucinous/diagnosis , Salpingo-oophorectomy , Hysterectomy , Treatment Outcome , Ultrasonography
8.
Cureus ; 16(5): e60802, 2024 May.
Article in English | MEDLINE | ID: mdl-38903333

ABSTRACT

Small-cell carcinoma of the ovary, the hypercalcemic type (SCCOHT) is a rare, aggressive tumor that primarily affects young females. It is a monogenic disorder caused by germline and/or somatic SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 (SMARCA4) mutations. Here, we report a case of SCCOHT harboring multiple previously unreported somatic mutations in SMARCA4 (c.2866_2867delC>T; c.3543del). A 28-year-old breastfeeding Japanese female presented to a previous hospital with nausea and vomiting. She had no family history of relevant malignancies, including ovarian cancer. Based on an evaluation performed at another institution, she was referred to a gynecologist for suspected ovarian cancer. Imaging studies revealed a 16×15 cm heterogenous enhancing mass within the right ovary without lymph node or distant metastasis. She had mild ascites without peritoneal dissemination, but there was an elevation in the serum calcium level (15.1 mg/dL). The patient underwent cytoreductive surgery and was pathologically diagnosed with SCCOHT. Auxiliary immunohistochemical staining confirmed the loss of SMARCA4 protein expression. The patient was diagnosed with the International Federation of Gynecology and Obstetrics (FIGO) 2014 stage IA (pT1a pN0 M0). The serum calcium levels returned to normal post-surgery. Matched-pair analysis using tumor tissue and peripheral blood revealed multiple somatic mutations in SMARCA4, but no deleterious germline mutations were present. Microsatellite instability was not significant, and the patients had a heterozygous mutation of uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1)*6. She underwent six cycles of irinotecan hydrochloride plus cisplatin chemotherapy and achieved complete remission. The patient was finally examined and evaluated 45 months postoperatively; there was no evidence of the disease. Overall, the genetic findings will not aid in the SCCOHT diagnosis and relevant genetic counseling; however, they may have implications for the treatment of this disease in the future.

9.
Case Rep Womens Health ; 42: e00602, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38577170

ABSTRACT

This article reports a case of an ovarian collision tumour consisting of an ovarian fibroma and a serous cystadenoma. A 60-year-old woman exhibited symptoms of post-menopausal bleeding and abdominal pain persisting for three months. Computerized tomography identified a solid mass with a cystic component in the right adnexa, and the patient underwent staging laparotomy. Gross examination of the right ovary revealed a cystic tumour with adjacent solid mass. The histopathological analysis identified a cystic mass that matched the characteristics of a serous cystadenoma, with an adjacent solid mass that matched the characteristics of a sex-cord stromal tumour, both located in the right ovary. Additionally, a small cyst that matched the characteristics of a serous cystadenoma was found in the left ovary. There have been only seven previously reported examples of this specific mix of ovarian tumours. Mostly affecting patients above 60 years of age, although tumour markers levels are normal, such cases may present with a complex clinical scenario, as in this case, and demand a comprehensive diagnostic and therapeutic approach.

10.
Parasitol Int ; 101: 102878, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38452972

ABSTRACT

OBJECTIVE: A case description of a rare occurrence of female genital schistosomiasis affecting the upper genital tract that presented with features mimicking an ovarian neoplasm. CASE REPORT: Female genital schistosomiasis is a neglected clinical manifestation of the water-born parasitic disease which occurs due to the presence of schistosome eggs in the genitalia of women. A 23-year-old nulliparous woman presented with progressive abdominal distension. An abdominopelvic CT scan revealed a multilobulated right adnexal mass with gross ascites. Diagnosis of schistosomiasis was made by histology of biopsied specimens following laparotomy. Cervical colposcopic findings were consistent with female genital schistosomiasis. She was successfully treated with praziquantel. CONCLUSION: Female genital schistosomiasis of the upper genital tract can mimic an ovarian malignancy. Hence there is a need for its consideration as a differential diagnosis in patients with non-classical presentations of pelvic tumours in schistosomiasis-endemic areas.


Subject(s)
Ovarian Neoplasms , Praziquantel , Female , Humans , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/pathology , Ovarian Neoplasms/drug therapy , Praziquantel/therapeutic use , Diagnosis, Differential , Young Adult , Anthelmintics/therapeutic use , Schistosomiasis haematobia/diagnosis , Schistosomiasis haematobia/drug therapy , Schistosomiasis/diagnosis , Schistosomiasis/drug therapy , Animals
11.
Reprod Sci ; 31(6): 1642-1650, 2024 06.
Article in English | MEDLINE | ID: mdl-38438776

ABSTRACT

The definition of the association between ovarian cancer and endometriosis was first reported by Sampson in 1925. He identified the following criteria: (a) clear evidence of endometriosis in proximity to the tumour, (b) exclusion of a metastatic tumour to the ovary, (c) presence of tissue resembling endometrial stroma surrounding epithelial glands. The naming of these cancers is "endometriosis-associated ovarian cancer" (EAOC). Scott proposed an additional stringent criterion: evidence of histological transition from endometriosis to cancer is to define "ovarian cancer arising in endometriosis" (OCAE). The aim of this systematic review is to analyse the distribution of different ovarian cancer histotypes in EAOC and OCAE to understand their similarities and differences. A total of 31 studies were included. Four studies added data for both EAOC and OCAE. Twenty-three studies were selected for EAOC, with a total of 800 patients, and 12 studies were selected for OCAE, with a total of 375 patients. The results show no significant differences in the distribution of histotypes in the two populations analysed. Clear cell carcinoma (CCC) and endometrioid carcinoma (EC) were the most common subtypes and were less frequent in EAOC compared to OCAE; the odd ratios were 0.58 (0.26-1.29) and 0.65 (0.33-1.26) respectively, although the difference was not statistically significant. The other histotypes were present in small proportions. This analysis shows that the histological profiles of EAOC and OCAE are similar, suggesting a similar aetiopathological mechanism, which requires further research to investigate whether EAOC and OCAE may be in the same way but at different points of the process to malignancy or have different pathways of progression to malignancy.


Subject(s)
Endometriosis , Ovarian Neoplasms , Humans , Endometriosis/pathology , Endometriosis/complications , Ovarian Neoplasms/pathology , Female , Carcinoma, Endometrioid/pathology , Adenocarcinoma, Clear Cell/pathology
12.
J Med Case Rep ; 18(1): 145, 2024 Mar 25.
Article in English | MEDLINE | ID: mdl-38523295

ABSTRACT

BACKGROUND: Mature cystic teratoma of the ovary is classified among the benign ovarian germ cell neoplasms, and its malignant transformation occurs very rarely (in about 2%). As a result of nonspecific signs and symptoms, preoperative diagnosis of theses malignancies is a challenge to clinicians, resulting in delayed diagnosis (in advanced stages) and poor outcomes. CASE PRESENTATION: We report the case of a 43-year-old Iranian woman with progressive distension of the abdomen and hypogastric pain, who was diagnosed with squamous cell carcinoma transformation in a mature cystic teratoma of the ovary confirmed by histopathology examination. Total abdominal hysterectomy, bilateral salpingooophorectomy, and comprehensive staging surgery were performed for the patient, and she was scheduled for chemotherapy after the surgery. She responded well to the treatment and is currently continuing her chemotherapy process. CONCLUSION: There are a great number of reports in the literature regarding mature cystic teratoma of the ovary transformation into malignancy, so these neoplasms must be considered as a possible differential diagnosis and should be evaluated in older individuals with abdominal pain and palpable mass, or those with considerable tumor diameter and raised serum tumor markers.


Subject(s)
Carcinoma, Squamous Cell , Dermoid Cyst , Ovarian Neoplasms , Teratoma , Adult , Female , Humans , Carcinoma, Squamous Cell/diagnosis , Carcinoma, Squamous Cell/pathology , Cell Transformation, Neoplastic , Iran , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/surgery , Ovarian Neoplasms/pathology , Teratoma/diagnosis , Teratoma/surgery , Teratoma/pathology
13.
Int J Surg Case Rep ; 117: 109546, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38513413

ABSTRACT

INTRODUCTION: Although female victims of sexual child abuse present with symptoms such as local pain and vaginal bleeding, however, before any definitive diagnosis a comprehensive physical examination along with a detailed history related to vaginal bleeding should be taken from the patient. Undoubtedly, we must not forget that only one of the causes of vaginal bleeding is rape. Therefore, before making a final diagnosis, other causes of this symptom must be carefully examined. CASE PRESENTATION: The patient was a 6-years-old female who was hospitalized for notable generalized abdominal distention, acute lower abdomen pain associated with nausea and mild fever lasting 5 days progressively worsening, thelarche and vaginal bleeding. Ultrasound examination showed that multilocular-solid masses located in right side of abdomen which led to surgery and mass excision. Histopathology diagnosis was a juvenile granulosa cell tumor of the ovary. DISCUSSION: Among the various causes of peripheral premature puberty, granulosa cell tumor (GCT) is rare but very important. Since in the two age groups - prepuberty and menopause - we don't expect to see vaginal bleeding, the occurrence of this disorder especially in association with breast enlargement in prepubertal group, need to appropriate imaging including pelvic ultrasound and bone age determination also laboratory data such as level of sex hormones and tumor markers to avoid misdiagnosis. CONCLUSION: We report the case of a granulosa cell tumor patient with vaginal bleeding that a complete history and examination provides the right path to a diagnosis.

14.
Autops Case Rep ; 14: e2024478, 2024.
Article in English | MEDLINE | ID: mdl-38487035

ABSTRACT

Ovarian steroid cell tumors are rare, representing less than 0.1% of all ovarian neoplasms. Among the myriad causes of hirsutism, ovarian tumors account for 1% of the reported cases. We present the case of a 49-year-old parous postmenopausal woman who sought medical attention for hirsutism for 2 years. This case illustrates the unusual and interesting connection between rare ovarian pathology and the clinical manifestation of hirsutism in a postmenopausal patient. Her ultrasonography and MRI showed a right adnexal mass of solid-cystic consistency with thin septations. Her laboratory workup revealed high levels of total testosterone of 256 ng/ml (8.4-48.1ng/ml) and free testosterone of 7.36 pg/ml (0.2-4.1 pg/ml), while DHEAS - 234 µg/dl (35.4-256 µg/dl) and CA125 - 15.8U/L (0.0-35 U/L) were in the normal range. She underwent exploratory laparotomy with a total abdominal hysterectomy and oophorectomy. Histopathological examination and immunohistochemistry conclusively established the presence of a steroid cell tumor, specifically classified as "Not Otherwise Specified"(NOS), in the right ovary.

15.
Front Oncol ; 14: 1331903, 2024.
Article in English | MEDLINE | ID: mdl-38352891

ABSTRACT

Steroid cell tumors (SCT) of the ovary are rare, which has limited advances in the understanding of this enigmatic neoplasm. In this review, we summarize currently known clinicopathologic information on SCT. SCT are frequently hormonally active, leading to elevated serum and/or urine levels of androgenic hormones or their metabolites, and associated symptomatology, including virilization. The reported age at diagnosis is broad and has ranged from as young as 1 year old to 93 years old, although most patients were between ages 20 and 40 years. Most tumors are stage I and unilateral. The tumors are usually well circumscribed with a solid or solid to cystic cut surface. The tumors in one series reportedly ranged in size from 1.2 to 45 cm (average 8.4 cm). MRI is a useful imaging modality, typically showing a well delineated mass with contrast enhancement and lipid content on T2 and T1 weighted images, respectively. Microscopically, SCT display polygonal to epithelioid cells with abundant eosinophilic to vacuolated/clear cytoplasm and display an immunoprofile that is consistent with sex cord-stromal differentiation. Most cases are benign, without any recurrences after primary resection, but a subset - probably less than 20% of cases -are clinically malignant. Pathologic criteria that can specifically predict patient outcomes remain elusive, although features that correlate with adverse outcomes have been proposed based on retrospective studies. The molecular characteristics of SCTs are similarly under characterized, although there is some evidence of an enrichment for hypoxia-signaling gene mutations in SCT. In malignant SCT, the tumors generally show greater global genomic instability, copy number gains in oncogenes, and occasional BAP1 mutation. Future studies involving multi-institutional cohort and unbiased molecular profiling using whole exome/transcriptome sequencing are needed to help advance our molecular understanding of SCTs.

16.
J Cancer Res Clin Oncol ; 150(2): 62, 2024 Feb 01.
Article in English | MEDLINE | ID: mdl-38300310

ABSTRACT

BACKGROUND: Pathogenic variants in BRCA genes play a crucial role in the pathogenesis of ovarian cancer. Intronic variants of uncertain significance (VUS) may contribute to pathogenicity by affecting splicing. Currently, the significance of many intronic variants in BRCA has not been clarified, impacting patient treatment strategies and the management of familial cases. METHOD: A retrospective study was conducted to analyze BRCA intronic VUS in a cohort of 707 unrelated ovarian cancer patients at a single institution from 2018 to 2023. Three splicing predictors were employed to analyze detected intronic VUS. Variants predicted to have splicing alterations were selected for further validation through minigene assays. Patient and familial investigations were conducted to comprehend cancer incidence within pedigrees and the application of poly (ADP-ribose) polymerase inhibitors (PARPi) by the patients. In accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG), the intronic VUS were reclassified based on minigene assay results and clinical evidence. RESULT: Approximately 9.8% (69/707) of patients were identified as carriers of 67 different VUS in BRCA1/2, with four intronic variants accounting for 6% (4/67) of all VUS. Splicing predictors indicated potential splicing alterations in splicing for BRCA1 c.4358-2A>G and BRCA2 c.475+5G>C variants. Minigene assays utilizing the pSPL3 exon trapping vector revealed that these variants induced changes in splicing sites and frameshift, resulting in premature termination of translation (p. Ala1453Glyfs and p. Pro143Glyfs). According to ACMG guidelines, BRCA1 c.4358-2A>G and BRCA2 c.475+5G>C were reclassified as pathogenic variants. Pedigree investigations were conducted on patients with BRCA1 c.4358-2A>G variant, and the detailed utilization of PARPi provided valuable insights into research on PARPi resistance. CONCLUSION: Two intronic VUS were reclassified as pathogenic variants. A precise classification of variants is crucial for the effective treatment and management of both patients and healthy carriers.


Subject(s)
BRCA2 Protein , Ovarian Neoplasms , Humans , Female , BRCA2 Protein/genetics , BRCA1 Protein/genetics , Retrospective Studies , Ovarian Neoplasms/genetics
17.
Curr Med Imaging ; 2024 Feb 26.
Article in English | MEDLINE | ID: mdl-38415483

ABSTRACT

OBJECTIVE: We aimed to differentiate granulosa cell tumors (GCT) from other ovarian sex-cord tumors (OSCs) based on feature analysis of the tumor body on MR imaging. METHODS: We retrospectively enrolled 27 patients with pathologically proven sex-cord tumours (14 GSTs, 8 fibromas, 4 fibrothecomas, and 1 sclerosing stromal tumour) from our institution. All MRI examinations were performed at least one month prior to surgery. MR image features were recorded by two radiologists with consensus readings. Histogram analysis was performed using FeAture Explorer software. The differences in histogram parameters between GCT (38.1 ± 14.6 years) and OSC (43.7 ± 18.0 years) groups were compared. Fourteen randomly selected cellular-type myomas who also underwent MRI in our hospital were considered as the control group. The intra-operator consistency of ADC value was evaluated across measurements twice. RESULTS: The repeatability of conventional ADC measurements on the tumor body was good. The values of ADC-mean, ADC-min, and ADC-max significantly differed across three groups (p < 0.001). The histogram variance on DWI, histogram percentage on T2WI, and ADC min showed the best discriminative performance in determining GCTs from other OSCs with an area under the receiver operator curve (AUC) of 0.997, 0.882, and 0.795, respectively. The histogram variance on DWI yielded a sensitivity of 92.3%, a specificity of 100%, and an accuracy of 96.6% in discriminating GSTs from other OSCs. CONCLUSION: In the present study, feature analysis of tumor body MR imaging has helped to differentiate GST from OSC with better performance than conventional ADC measurements.

18.
Ultrasound Obstet Gynecol ; 63(3): 399-407, 2024 03.
Article in English | MEDLINE | ID: mdl-37774092

ABSTRACT

OBJECTIVE: To describe the clinical and ultrasound characteristics of recurrent granulosa cell and Sertoli-Leydig cell tumors. METHODS: This was a retrospective observational study performed at Fondazione Policlinico Universitario A. Gemelli, Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS, Rome (Gemelli center), Italy. Patients with a histological diagnosis of recurrent granulosa cell tumor or Sertoli-Leydig cell tumor were identified from the database of the Department of Gynecological Oncology. Those who had undergone a preoperative ultrasound examination at the Gemelli center between 2012 and 2020 were included, and the data retrieved from the original ultrasound reports. In all of these reports, the recurrent tumors were described using International Ovarian Tumor Analysis (IOTA) terminology. If a patient had more than one episode of relapse, information from all episodes was collected. If there was more than one recurrent tumor at the same ultrasound examination, all tumors were included. One expert sonographer also reviewed all available ultrasound images to identify typical ultrasound patterns using pattern recognition. RESULTS: We identified 30 patients with a histological diagnosis of recurrent granulosa cell tumor (25 patients, 55 tumors) or Sertoli-Leydig cell tumor (five patients, seven tumors). All 30 had undergone at least one preoperative ultrasound examination at the Gemelli center and were included. These women had a total of 66 episodes of relapse, of which a preoperative ultrasound examination had been performed at the Gemelli center in 34, revealing 62 recurrent lesions: one in 22/34 (64.7%) episodes of relapse, two in 4/34 (11.8%) episodes and three or more in 8/34 (23.5%) episodes. Most recurrent granulosa cell tumors (38/55, 69.1%) and recurrent Sertoli-Leydig tumors (6/7, 85.7%) were classified as solid or multilocular-solid tumors, while 8/55 (14.5%) recurrent granulosa cell tumors and 1/7 (14.3%) recurrent Sertoli-Leydig cell tumors were unilocular cysts and 9/55 (16.4%) recurrent granulosa cell tumors were multilocular cysts. The nine unilocular cysts had contents that were anechoic (n = 2) or had low-level echogenicity (n = 7), had either smooth (n = 4) or irregular (n = 5) internal cyst walls, and ranged in largest diameter from 8 to 38 mm, with three being < 20 mm and five being 20-30 mm. On retrospective review of the images, two typical ultrasound patterns were described: small solid tumor measuring < 2 cm (15/62, 24.2%) and tumor with vascularized echogenic ground-glass-like content (12/62, 19.4%). CONCLUSIONS: Some granulosa cell and Sertoli-Leydig cell recurrences manifest one of two typical ultrasound patterns, while some appear as unilocular cysts. These are usually classified as benign, but in patients being followed up for a granulosa cell tumor or Sertoli-Leydig cell tumor, a unilocular cyst should be considered suspicious of recurrence. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.


Subject(s)
Cysts , Genital Diseases, Female , Granulosa Cell Tumor , Ovarian Neoplasms , Sertoli-Leydig Cell Tumor , Sex Cord-Gonadal Stromal Tumors , Pregnancy , Male , Humans , Female , Sertoli-Leydig Cell Tumor/diagnostic imaging , Granulosa Cell Tumor/diagnostic imaging , Neoplasm Recurrence, Local/diagnostic imaging , Ultrasonography , Ovarian Neoplasms/diagnostic imaging , Sex Cord-Gonadal Stromal Tumors/diagnostic imaging , Recurrence , Stromal Cells
19.
J Gynecol Oncol ; 35(2): e19, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37921603

ABSTRACT

OBJECTIVE: To study clinical characters and outcomes in patients of malignant ovarian germ cell tumor (MOGCT) undergoing surgery following neoadjuvant chemotherapy (NACT). METHODS: Retrospective study of patients undergoing surgery following NACT for MOGCT at our institute. Platinum based chemotherapy was given in all patients in NACT. RESULTS: Between March 2013 and February 2023, 30 patients had surgery after NACT. Patient's median age was 22 years (range, 12 to 35 years) and median follow up 42months (range, 6 to 132 months). Majority had endodermal sinus tumor (n=12), dysgerminoma (n=9) and mixed GCT (n=7). All had either International Federation of Gynecology and Obstetrics (FIGO) stage 3 (n=19) or FIGO stage 4 disease (n=11). Complete response to NACT seen in 5 patients and 23 patients had partial response. Fertility sparing surgery in 18 patients and complete surgery in 12 patients. Suboptimal surgery was seen in 4 patients. Currently, 20 of 30 patients are alive and disease free, 3 lost for follow up and 7 patients had progression after adjuvant therapy. Five patients had mortality-4 with progression and 1 with bleomycin toxicity. Fifteen of 17 eligible patients have resumed menstruation and one had successful pregnancy. Prognostic factors noted in study are stage, optimal surgery and viable tumor in histopathology. Dysgerminoma had better outcome than other histology. CONCLUSION: NACT may be a reasonable option in patients with extensive unresectable disease or in whom fertility sparing is not possible or in the poor general condition. Fertility sparing surgery can be attempted post neoadjuvant chemotherapy without adversely affecting prognosis.


Subject(s)
Dysgerminoma , Neoplasms, Germ Cell and Embryonal , Ovarian Neoplasms , Pregnancy , Female , Humans , Young Adult , Adult , Neoadjuvant Therapy , Dysgerminoma/drug therapy , Dysgerminoma/etiology , Dysgerminoma/pathology , Retrospective Studies , Chemotherapy, Adjuvant/adverse effects , Neoplasm Staging , Ovarian Neoplasms/pathology , Neoplasms, Germ Cell and Embryonal/drug therapy , Neoplasms, Germ Cell and Embryonal/etiology , Neoplasms, Germ Cell and Embryonal/pathology
20.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1017316

ABSTRACT

Objective:To discuss the inhibitory effect of chelerythrine(CHE)on the migration,invasion,and epithelial-mesenchymal transition(EMT)of the human ovarian cancer SKOV3 cells,and to clarify the associated mechanism.Methods:The SKOV3 cells were cultured in vitro and divided into control group and 2.5,5.0,10.0,20.0,and 40.0 μmol·L-1 CHE groups.Methylthiazolydiphenyl-tetrazolium(MTT)assay was used to detect the inhibitory rates of proliferation of the cells in various groups.The SKOV3 cells were cultured in vitro and divided into control group,transforming growth factor-β1(TGF-β1)group,TGF-β1+5 μmol·L-1 CHE group,and TGF-β1+10 μmol·L-1 CHE group.Cell scratch assay was used to detect the migration rates of the cells in various groups;Transwell chamber assay was used to detect the numbers of migration and invasion cells in various groups;Western blotting method was used to detect the expression levels of E-cadherin,N-cadherin,and Vimentin proteins in the cells in various groups;immunofluorescence staining method was used to detect the fluorescence intensities of E-cadherin and N-cadherin in the cells in various groups.Results:The MTT assay results showed that compared with control group,the inhibitory rates of proliferation of the cells in 5.0,10.0,20.0,and 40.0 μmol·L-1 CHE groups were significantly increased(P<0.05 or P<0.01).The cell scratch assay results showed that compared with control group,the migration rate of the cells in TGF-β1 group was increased(P<0.01);compared with TGF-β1 group,the migration rates of the cells in TGF-β1+5 μmol·L-1 CHE group and TGF-β1+10 μmol·L-1 CHE group were significantly decreased(P<0.01).The Transwell chamber assay results showed that compared with control group,the numbers of migration and invasion cells in TGF-β1 group were significantly increased(P<0.05);compared with TGF-β1 group,the numbers of migration and invasion cells in TGF-β1+5 μmo·l L-1 CHE group and TGF-β1+10 μmo·l L-1 CHE group were significantly decreased(P<0.01).The Western blotting results showed that compared with control group,the expression level of E-cadherin protein in the cells in TGF-β1 group was significantly decreased(P<0.01),while the expression levels of N-cadherin and Vimentin proteins were increased(P<0.05 or P<0.01);compared with TGF-β1 group,the expression levels of E-cadherin protein in the cells in TGF-β1+5 μmol·L-1 CHE group and TGF-β1+10 μmol·L-1 CHE group were significantly increased(P<0.01),and the expression levels of N-cadherin and Vimentin proteins were significantly decreased(P<0.01).The immunofluorescence staining results showed that compared with control group,the fluorescence intensity of E-cadherin in the cells in TGF-β1 group was decreased,and the fluorescence intensity of N-cadherin was increased;compared with TGF-β1 group,the fluorescence intensities of E-cadherin in the cells in TGF-β 1+5 μmol·L-1 CHE group and TGF-β1+10 μmol·L-1 CHE group were significantly increased,and the fluorescence intensities of N-cadherin were decreased.Conclusion:CHE can inhibit the proliferation,migration,invasion,and EMT of the human ovarian cancer SKOV3 cells.

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