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Diagnostic Pathology Jan 2024We previously described a series of cases which characterize a distinct group of primary ovarian placental site trophoblastic tumor (PSTT) and epithelioid trophoblastic...
We previously described a series of cases which characterize a distinct group of primary ovarian placental site trophoblastic tumor (PSTT) and epithelioid trophoblastic tumor (ETT) as a non-gestational set consistent with germ cell type/origin. Here we report a new case of ovarian non-gestational PSTT. The patient was a 13 year-old young female admitted for a spontaneous pneumothorax of the left lung. The pathology of lung wedge excision specimen demonstrated metastatic PSTT and ovarian biopsy showed atypical intermediate trophoblastic proliferation which was found to be PSTT in the subsequent salpingo-oophorectomy specimen. In the ovary, the tumor was composed of singly dispersed or small clusters of predominantly mononuclear cells and rare multinucleated cells extensively infiltrating the ovarian parenchyma, tubal mucosa, and paraovarian/paratubal soft tissue. A minor component of mature cystic teratoma (less than 5% of total tumor volume) was present. Immunohistochemically, the neoplastic cells of main tumor were diffusely immunoreactive for hPL, Gata3 and AE1/AE3, and had only rare hCG-positive or p63-positive cells. The morphology and immunohistochemical results support a PSTT. Molecular genotyping revealed an identical genotype pattern between the normal lung tissue and the metastatic PSTT, indicating its non-gestational nature of germ cell type/origin. This case represents the first case of such tumor with distant (lung) metastasis. This case also provides further evidence to support our recommendation that primary ovarian non-gestational intermediate trophoblastic tumors of germ cell type/origin, including PSTT and ETT, should be formally recognized in classification systems.
Topics: Female; Humans; Pregnancy; Adolescent; Trophoblastic Tumor, Placental Site; Ovary; Placenta; Trophoblastic Neoplasms; Gestational Trophoblastic Disease; Lung Neoplasms; Uterine Neoplasms
PubMed: 38172961
DOI: 10.1186/s13000-023-01436-3 -
Clinical Case Reports Oct 2023To date, there have been disparate reports regarding borderline forms of Brenner tumors, while research on concomitant mucinous proliferation is even more irregular;...
KEY CLINICAL MESSAGE
To date, there have been disparate reports regarding borderline forms of Brenner tumors, while research on concomitant mucinous proliferation is even more irregular; however, it has been observed that proper diagnosis and treatment have proven to have a favorable prognosis on the aforementioned tumor.
ABSTRACT
Brenner tumor is a rare epithelial ovarian neoplasm responsible for 2%-3% of all ovarian tumors. These tumors are usually asymptomatic and can usually be found incidentally in pathological studies. They can also manifest themselves as abdominal pain or abnormal uterine bleeding. A 41-year-old female with a history of anemia referred to the hospital suffering from abdominal pain for at least 1 month before the referral period. Physical examination revealed a mobile palpable mass in the left lower abdomen. Ultrasound and pelvic computed tomography scan (CT scan) revealed a left ovarian complex cyst. Left salpingo-oophorectomy was performed on the patient, and the cyst was removed. Pathological findings revealed an atypical proliferative Brenner tumor with mucinous metaplasia. To date, there have been disparate reports regarding borderline forms of Brenner tumors, while research on concomitant mucinous proliferation is even more irregular; however, it has been observed that proper diagnosis and treatment have proven to have a favorable prognosis on the aforementioned tumor.
PubMed: 37780922
DOI: 10.1002/ccr3.7967 -
Journal of Surgical Case Reports Feb 2024Chyle leak is a rare but potentially morbid complication of abdominal surgery. There have been seven reported cases of chylous ascites following cholecystectomy, but no...
Chyle leak is a rare but potentially morbid complication of abdominal surgery. There have been seven reported cases of chylous ascites following cholecystectomy, but no such occurrences are reported with percutaneous cholecystostomy tube (PCT) insertion. We report the case of a 67-year-old female with stage IVb recurrent uterine papillary serous carcinoma and extensive abdominal surgical history including a paraesophageal hernia repair, and a robotic hysterectomy, bilateral salpingo-oophorectomy, pelvic and para-aortic lymphadenectomy, gastrocolic omentectomy, and hepatoduodenal lymphadenectomy. The patient presented with clinical findings suggestive of acute cholecystitis and decision was made to proceed with PCT placement. The PCT was dislodged and replaced during her course and several days after chylous output was noted from the PCT. The remainder of her hospital course was complicated by persistent distributive shock, adrenal insufficiency, and continued chyle leak. She ultimately was transitioned to inpatient hospice and died shortly after.
PubMed: 38426184
DOI: 10.1093/jscr/rjae094 -
Diagnostic Pathology Apr 2024Müllerian adenosarcoma, a rare malignancy, presents diagnostic and therapeutic challenges. In this study, we conducted an analysis of the clinicopathological...
BACKGROUND
Müllerian adenosarcoma, a rare malignancy, presents diagnostic and therapeutic challenges. In this study, we conducted an analysis of the clinicopathological characteristics of 22 adenosarcomas, with a particular focus on screening for DICER1 hot mutations.
METHODS
The cohort consisted of patients with adenosarcoma who were registered at the West China Second Hospital between the years 2020 and June 2022. Sanger sequencing was employed to screen for somatic Hotspot mutations in the RNase IIIb domain of DICER1 in the 22 adenosarcomas.
RESULTS
Only one patient exhibited a DICER1 mutation that was not a DICER1 Hotspot mutation. Among the 22 patients, all underwent total hysterectomy with bilateral salpingo-oophorectomy, and 14 out of these 22 patients received adjuvant treatment.
CONCLUSION
In summary, our study of 22 Müllerian adenosarcomas focused on the clinicopathological features and the presence of DICER1 Hotspot mutations. Although our findings did not reveal any DICER1 mutations in the studied samples, this negative result provides valuable information for the field by narrowing down the genetic landscape of adenosarcomas and highlighting the need for further research into alternative molecular pathways driving this malignancy.
Topics: Female; Humans; Adenosarcoma; Mutation; China; Ribonuclease III; DEAD-box RNA Helicases
PubMed: 38570882
DOI: 10.1186/s13000-024-01477-2 -
Gynecological Endocrinology : the... Dec 2023Steroid cell tumors not otherwise specified are rare sex cord-stromal tumors of the ovary that may produce various steroids and are associated with hirsutism and... (Review)
Review
Steroid cell tumors not otherwise specified are rare sex cord-stromal tumors of the ovary that may produce various steroids and are associated with hirsutism and virilization. We report a rare case of ovarian steroid cell tumor with subsequent spontaneous pregnancy after tumor removal. A 31-year-old woman presented with secondary amenorrhea, hirsutism, and inability to conceive. Clinical and diagnostic evaluations revealed a left adnexal mass and elevated serum total testosterone and 17α-hydroxyprogesterone levels. She underwent a left salpingo-oophorectomy, and histopathological examination confirmed the diagnosis of a steroid cell tumor not otherwise specified. Her serum total testosterone and 17α-hydroxyprogesterone normalized one month after surgery. Her menses resumed spontaneously one month after the operation. She spontaneously conceived 12 months after the surgery. The patient had an uncomplicated pregnancy and delivered a healthy male infant. In addition, we reviewed the literature on steroid cell tumors not otherwise specified with subsequent spontaneous pregnancies after surgery and data regarding pregnancy outcomes.
Topics: Humans; Pregnancy; Female; Male; Adult; Hirsutism; Ovarian Neoplasms; Sex Cord-Gonadal Stromal Tumors; Steroids; 17-alpha-Hydroxyprogesterone; Testosterone
PubMed: 36878245
DOI: 10.1080/09513590.2023.2186138 -
Frontiers in Oncology 2023Endometrial carcinoma is the most common gynecologic cancer, with increasing incidence and mortality. Combination endocrine therapy comprised of tamoxifen and...
BACKGROUND
Endometrial carcinoma is the most common gynecologic cancer, with increasing incidence and mortality. Combination endocrine therapy comprised of tamoxifen and progestational agents has demonstrated promising results in treating recurrent disease. This case report describes the prolonged clinical benefit of treatment with tamoxifen and megestrol acetate in a woman with recurrent, metastatic endometrial endometrioid carcinoma positive for estrogen (ER) and progesterone receptors (PR).
CASE
A 71-year-old gravida 1 para 1 woman presented with postmenopausal bleeding and vaginal discharge. Pelvic ultrasound and magnetic resonance imaging confirmed a 4.7 cm endometrial mass. The patient underwent a total laparoscopic hysterectomy, bilateral salpingo-oophorectomy, pelvic and para-aortic lymphadenectomy, and cystoscopy; pathology revealed a FIGO stage IA grade 1 ER/PR-positive endometroid endometrial adenocarcinoma. She continued under active surveillance for approximately 42 months until she experienced bone metastases in her pelvis, for which she received radiation therapy. Five months later, pulmonary metastases were detected, and she received six cycles of carboplatin and paclitaxel. She then started megestrol acetate and tamoxifen and has remained clinically stable with minimal side effects and reasonable quality of life for approximately 57 months.
CONCLUSION
Our case suggests that combination endocrine therapy has the potential to provide substantial long-term clinical benefit in women with recurrent endometrial cancer and bone metastases, despite multiple prior treatments, allowing patients to experience stable disease and quality of life. In patients with recurrent endometrioid, ER/PR-positive disease, endocrine therapy alone or in combination with other targeted therapies are regimens that may be considered due to their low overall toxicity.
PubMed: 38090495
DOI: 10.3389/fonc.2023.1249370 -
Frontiers in Oncology 2023It has been estimated that 19,880 new cases of ovarian cancer had been diagnosed in 2022. Most epithelial ovarian cancer are sporadic, while in 15%-25% of cases, there...
INTRODUCTION
It has been estimated that 19,880 new cases of ovarian cancer had been diagnosed in 2022. Most epithelial ovarian cancer are sporadic, while in 15%-25% of cases, there is evidence of a familial or inherited component. Approximately 20%-25% of high-grade serous carcinoma cases are caused by germline mutations in the BRCA1 and BRCA2 genes. However, owing to a lack of effective early detection methods, women with BRCA mutations are recommended to undergo bilateral risk-reducing salpingo-oophorectomy (RRSO) after childbearing. Determining the right timing for this procedure is a difficult decision. It is crucial to find a clinical signature to identify high-risk BRCA-mutated patients and determine the appropriate timing for performing RRSO.
METHODS
In this work, clinical data referred to a cohort of 184 patients, of whom 7.6% were affected by adnexal tumors including invasive carcinomas and intraepithelial lesions after RSSO has been analyzed. Thus, we proposed an explainable machine learning (ML) ensemble approach using clinical data commonly collected in clinical practice to early identify BRCA-mutated patients at high risk of ovarian cancer and consequentially establish the correct timing for RRSO.
RESULTS
The ensemble model was able to handle imbalanced data achieving an accuracy value of 83.2%, a specificity value of 85.3%, a sensitivity value of 57.1%, a G-mean value of 69.8%, and an AUC value of 71.1%.
DISCUSSION
In agreement with the promising results achieved, the application of suitable ML techniques could play a key role in the definition of a BRCA-mutated patient-centric clinical signature for ovarian cancer risk and consequently personalize the management of these patients. As far as we know, this is the first work addressing this task from an ML perspective.
PubMed: 37519818
DOI: 10.3389/fonc.2023.1181792 -
Frontiers in Medicine 2024Over the last decade there has been a transition from traditional laparoscopy to robotic surgery for the treatment of endometrial cancer. A number of gynecological...
INTRODUCTION
Over the last decade there has been a transition from traditional laparoscopy to robotic surgery for the treatment of endometrial cancer. A number of gynecological oncology surgical fellowship programmes have adopted robot-assisted laparoscopy, but the effect of training on complications and survival has not been evaluated. Our aim was to assess the impact of a proficiency-based progression training curriculum in robot-assisted laparoscopy on peri-operative and survival outcomes for endometrial cancer.
METHODS
This is an observational cohort study performed in a tertiary referral and subspecialty training center. Women with primary endometrial cancer treated with robot-assisted laparoscopic surgery between 2015 and 2022 were included. Surgery would normally include a hysterectomy and salpingo-oophorectomy with some form of pelvic lymph node dissection (sentinel lymph nodes or lymphadenectomy). Training was provided according to a training curriculum which involves step-wise progression of the trainee based on proficiency to perform a certain surgical technique. Training cases were identified pre-operatively by consultant surgeons based on clinical factors. Case complexity matched the experience of the trainee. Main outcome measures were intra- and post-operative complications, blood transfusions, readmissions < 30 days, return to theater rates and 5-year disease-free and disease-specific survival for training versus non-training cases. Mann-Witney U, Pearson's chi-squared, multivariable regression, Kaplan-Meier and Cox proportional hazard analyses were performed to assess the effect of proficiency-based progression training on peri-operative and survival outcomes.
RESULTS
Training cases had a lower BMI than non-training cases (30 versus 32 kg/m, = 0.013), but were comparable in age, performance status and comorbidities. Training had no influence on intra- and post-operative complications, blood transfusions, readmissions < 30 days, return to theater rates and median 5-year disease-free and disease-specific survival. Operating time was longer in training cases (161 versus 137 min, = < 0.001). The range of estimated blood loss was smaller in training cases. Conversion rates, critical care unit-admissions and lymphoedema rates were comparable.
DISCUSSION
Proficiency-based progression training can be used safely to teach robot-assisted laparoscopic surgery for women with endometrial cancer. Prospective trails are needed to further investigate the influence of distinct parts of robot-assisted laparoscopic surgery performed by a trainee on endometrial cancer outcomes.
PubMed: 38903811
DOI: 10.3389/fmed.2024.1370836 -
Medicine International 2023Myotonic dystrophy (MD) is an autosomal dominant disorder primarily characterized by myotonia. The present study describes the case of a 42-year-old woman who was...
Myotonic dystrophy (MD) is an autosomal dominant disorder primarily characterized by myotonia. The present study describes the case of a 42-year-old woman who was transferred to the authors' department with acute abdomen and restrictive respiratory failure. Computed tomography revealed a 15-cm right ovarian tumor and atelectasis. An abdominal right salpingo-oophorectomy was performed under general anesthesia. She was then extubated after surgery; however, shortly thereafter she was re-incubated due to poor oxygenation and was then moved to the intensive care unit (ICU) for a further analysis of weaning failure. During her stay in the ICU, weaning was attempted twice, but failed both times. The patient underwent a tracheotomy 7 days after surgery. Consultation with a neurologist suggested possible MD. Following genetic testing, type I MD with ~700-1,100 cytosine-thymine-guanine repeats in the dystrophia myotonia protein kinase gene was confirmed. The patient was then transferred to a specialty hospital at 2 months after surgery. On the whole, the case described herein suggests that clinicians need to become familiar with this disease as a differential diagnosis for post-operative weaning failure.
PubMed: 37745151
DOI: 10.3892/mi.2023.106 -
AACE Clinical Case Reports 2023Leydig cell tumors are a rare androgen-secreting ovarian tumor. We present a patient with virilization symptoms secondary to a Leydig cell tumor, with nonrevealing...
BACKGROUND/OBJECTIVE
Leydig cell tumors are a rare androgen-secreting ovarian tumor. We present a patient with virilization symptoms secondary to a Leydig cell tumor, with nonrevealing imaging studies, that was localized using ovarian vein sampling (OVS).
CASE REPORT
A 56-year-old postmenopausal woman was referred by her gynecologist to the endocrinology clinic for voice-deepening, clitoral enlargement, scalp hair loss, and excessive body hair growth. Her total testosterone was 11.5 (0.3-1.3 nmol/L), bioavailable testosterone was 7.19 (0.1-0.6 nmol/L), and dehydroepiandrosterone sulfate was 4.0 (0.8-4.9 μmol/L). Transvaginal ultrasound and abdominal magnetic resonance imaging showed no adrenal or ovarian masses bilaterally. On adrenal vein sampling (AVS) and OVS, total testosterone from the left gonadal vein was 780.0 (0.3-1.3 nmol/L) and right gonadal vein was 18.6 (0.3-1.3 nmol/L), with a left-to-right ovarian testosterone ratio of 41.94. A bilateral salpingo-oophorectomy was performed, and a 1.0 cm Leydig cell tumor in the left ovary was noted on histopathology. One month after surgery, her total and bioavailable testosterone were <0.4 (0.3-1.3 nmol/L and 0.1-0.6 nmol/L, respectively). At 6 months, she had normalization of her voice to baseline, decreased clitoral size, decreased hair growth on her back, and improvement in her male-pattern baldness.
DISCUSSION
OVS and AVS are useful diagnostic investigation tools in cases of virilization, in which imaging is nonrevealing. Our case supports previously suggested left-to-right ovarian vein testosterone ratio of ≥15 being associated with a left-sided tumor.
CONCLUSION
Few cases have been published on the interpretation of AVS and OVS in the setting of virilization. Previously suggested ratios for lateralization were valid for this patient.
PubMed: 38045790
DOI: 10.1016/j.aace.2023.07.003