Bilateral Ovarian Masses Research Articles

Synchronous Bilateral Ovarian Carcinomas With Right Mesonephric-like Adenocarcinoma and Left High-grade Serous Carcinoma: A Case Report and Review of the Literature.

Mesonephric-like adenocarcinomas (MLAs) are rare neoplasms of the uterus corpus and ovary, while high-grade serous carcinoma (HGSC) is the most common and lethal epithelial ovarian malignancy. We report a case of a 56-yr-old woman who presented with bilateral solid and cystic ovarian masses. She underwent a total abdominal hysterectomy with bilateral salpingo-oophorectomy, lymphadenectomy, omentectomy, and peritoneal biopsies. Histopathologic examination of the bilateral ovarian masses revealed 1 ovary with MLA, and the other ovary showed HGSC in association with serous tubal intraepithelial carcinoma. The morphology, immunophenotypes, and molecular profiling of the HGSC and the MLA were distinct and as expected for the different tumor types: HGSC was diffusely positive for WT-1, estrogen receptor, and p53 (mutant pattern), while negative for GATA-3 and TTF-1; MLA was positive for GATA-3 and TTF-1, while negative for WT1, estrogen receptor, and p53 (wild-type pattern); both tumors were diffusely positive for PAX-8. The HGSC revealed a TP53 c.659A>G (p.Y220C) mutation, and the MLA revealed a KRAS c. 34G>T (p. G12C) mutation and a PIK3CA c. 1034A>T (p. N345I) mutation. To the best of our knowledge, this is the first reported case of synchronous bilateral ovarian carcinomas with MLA and contralateral ovarian HGSC.

79. Management of Bilateral Ovarian Masses in the Pediatric Population

79. Management of Bilateral Ovarian Masses in the Pediatric Population

20 - A rare and fatal presentation of malignant melanoma as bilateral ovarian masses and multiple pathological fractures in a 29 year old female

20 - A rare and fatal presentation of malignant melanoma as bilateral ovarian masses and multiple pathological fractures in a 29 year old female

Maternal Mortality Resulting from Signet-ring Cell Carcinoma of the Sigmoid Colon Presenting as Bilateral Krukenberg Tumours: A Case Report

Krukenberg Tumours (KTs) during pregnancy are extremely rare, difficult to diagnose, and have a grave prognosis. Authors hereby, report an autopsy case of a 23-year-old primigravida at 29 weeks of gestation who presented at a tertiary care centre with preterm labour. She complained of severe abdominal pain, backache, and vaginal leakage for the past two days. Physical examination revealed an oedematous abdominal wall and a gravid uterus measuring 34 weeks, as the tumours could not be palpated separately. She underwent a normal vaginal delivery and delivered a live female foetus weighing 1.6 kg. However, she developed septicaemia and, on the fifth postnatal day, progressed to loss of consciousness and subsequently died. A complete autopsy was performed. Her past medical history indicated that at 20 weeks of gestation, bilateral ovarian masses were detected and biopsied. The biopsy revealed high-grade metastatic adenocarcinomas that were positive for CK20 and Epithelial Membrane Antigen (EMA) but negative for CK7, Alpha fetoprotein (AFP) and CD10, suggesting a primary tumour in the gastrointestinal tract. The autopsy revealed a signet-ring cell carcinoma of the sigmoid colon, along with bilateral large KTs and peritoneal metastasis.

FSH-producing pituitary neuroendocrine tumor as a cause of ovarian hyperstimulation syndrome.

Functioning gonadotroph tumors are rare neoplasms that can cause ovarian hyperstimulation syndrome (OHSS) in women of reproductive age. Here, we present a case of a follicle-stimulating hormone (FSH)-producing pituitary neuroendocrine tumor (PitNET) with irregular menstrual cycles and OHSS in a Japanese woman. A 34-year-old woman with bilateral multi-cystic ovarian mass was referred to our hospital for ovarian surgery. The imaging feature of magnetic resonance imaging (MRI) of the ovary and elevated estradiol levels with normal FSH and low luteinizing hormone (LH) levels led us to suspect the presence of a functioning gonadotroph PitNET. MRI revealed a 19-mm pituitary tumor, and increased tracer uptake was observed in the pituitary lesion on 111In-pentetreotide scintigraphy. Transsphenoidal tumor resection resulted in the resolution of the ovarian enlargement, normalization of her menstrual cycles, and spontaneous pregnancy. Immunohistochemistry (IHC) of the resected tumor for pituitary transcription factors, including steroidogenesis factor 1 (SF1) and estrogen receptor alpha, demonstrated positive immunoreactivity, whereas IHC for pituitary-specific positive transcription factor 1 was negative, suggesting that the tumor belonged to the SF1 lineage of PitNETs (gonadotroph tumor). The tumor cells showed positive expression of FSHβ, while LHβ was mostly negative. Consistent with the high pituitary tumor uptake observed on 111In-pentetreotide scintigraphy, the pituitary tumor showed positive expression of somatostatin receptor 2A. Detailed clinical and histological evaluations will provide useful information to understand these rare functioning gonadotroph tumors better. Functioning gonadotroph tumors are very rare neuroendocrine tumors of pituitary origin. Women of reproductive age presenting with bilateral multi-cystic ovarian enlargement, irregular menstrual cycles, and hyperestrogenemia under unsuppressed follicle-stimulating hormone (FSH) levels should be evaluated for FSH-producing tumor. Raising awareness of OHSS due to functioning gonadotroph tumors is crucial to prevent unnecessary ovarian surgery. Comprehensive histological analysis may provide useful information to better understand the characteristics of functioning gonadotroph tumors.

Krukenberg Tumors in Young Women: Computed Tomography and Magnetic Resonance Imaging Diagnosis.

The purpose of this report was to present the computed tomography (CT) and magnetic resonance imaging (MRI) features of Krukenberg tumors and to review the pertinent clinical data about the rising incidence of this malignancy among young women. This series included 8 women who ranged in age from 24 to 44 years (mean, 36.3 years). They were diagnosed to have Krukenberg tumors during a 5-year period (2011-2016). All patients were evaluated by abdominal CT and pelvic or transvaginal sonography. Five of them also had MRI of the abdomen, and 3 had positron emission tomography scans. The primary cancer was located in the stomach of 7 patients and in the colon in 1. The initial presentation was due to large pelvic mass and abdominal distention by ascites in 3 patients, gastrointestinal symptoms in 4, and small bowel obstruction by carcinoma of the ascending colon in 1 woman. Ovarian metastases were demonstrated on the initial imaging examination of 5 patients and developed as metachronous lesion during follow-up in 3 cases. Six women died 3 to 23 months (mean, 11 months) after the diagnosis. One has survived for 6 years after extensive surgery, and 1 was lost to follow-up. Krukenberg tumors are being diagnosed with an increasing frequency because of well-documented rising incidence of gastric and colorectal carcinomas among young women. Therefore, those presenting with gastrointestinal cancer should have careful imaging of their ovaries for possible metastases, and conversely, the clinical or sonographic detection of bilateral ovarian masses would require evaluation by CT or MRI of the abdomen in search for a potential primary gastrointestinal cancer. This report highlights the CT and MRI features of this neoplastic process and reviews the current concepts about its development and management.

INTRAOPERATIVE FROZEN SECTION ANALYSIS OF ENDOMETRIOID OVARIAN BORDERLINE TUMOR: A DIFFICULT DIAGNOSIS

Abstract Introduction/Objective Borderline ovarian tumors (BOT) comprise approximately 15% of all primary ovarian neoplasms; of these endometroid borderline ovarian tumors (EBOT) are much rarer (2-3%). BOT is often potentially misdiagnosed as a malignant tumor based on its challenging histomorphological features and thus, treated aggressively. Herein, we present an unusual case of EBOT with adenofibromatous pattern in a 50-year-old gravida 3, para 2 female diagnosed on intraoperative frozen sections (IOFS). Methods/Case Report Patient with history of endometriosis presented with left lower quadrant abdominal pain. MRI revealed complex bilateral ovarian masses with solid and cystic components measuring 5 cm and 6.7 cm in right and left ovary, respectively. An ovarian malignancy was suspected. Patient underwent exploratory laparotomy, total abdominal hysterectomy with bilateral salpingo-opherectomy, and omentectomy. Grossly, bilateral ovaries (BO) showed intact capsule with solid and cystic components. On IOFS, the solid areas demonstrated endometrioid glands arranged in a lobular fashion with squamous morules. The cystic component demonstrated papillary projections with squamous differentiation. Cytology is mildly atypical at best. Based on these findings, a diagnosis of EBOT was made, necessitating staging. Differential diagnoses include atypical endometriosis, endometrioid adenofibroma (EAF) and endometrioid adenocarcinoma (EA). Lack of endometrial stroma surrounding the glands ruled out endometriosis. Presence of CC with papillary architecture ruled out EAF and lack of destructive stromal invasion with desmoplasia, confluence of glands and significant cytologic atypia ruled out EA. Final histopathological diagnosis of formalin-fixed paraffin-embedded specimen revealed EBOT, pT1bN0M0. Uterus and cervix revealed endometrial hyperplasia with atypia, adenomyosis, leiomyomas, and endocervical polyp. Results (if a Case Study enter NA) NA Conclusion The accurate diagnosis of BOT during IOFS is critical as it directs surgeons towards staging studies and in choosing conservative surgical treatment over aggressive treatment especially in cases of young women who desire future childbearing. As this is a rare entity, it serves the pathologist well to keep all relevant differential diagnoses in mind.

FRI509 A Girl With Trisomy 21 Presents With Van Wyk-Grumbach Syndrome

Abstract Disclosure: J. Hayes dorado: None. M. Calla Ayala: None. A. Colque Arias: None. K. Lanuza Gaite: None. M. Rossell Lopez: None. D. Frias Eid: None. Van Wyc-Grumbach syndrome (VWGS) is a rare presentation of long standing prepubertal hypothyroidism characterized by bilateral multicystic enlarged ovaries, vaginal bleeding and delayed bone age. It appeared that high TSH could produce FSH and LH like activity leading to multiple ovarian cysts. A 7-year-old girl with trisomy 21, presented with vaginal bleeding for 2 days prior to admission. Physical exam revealed bradycardia (68 bbm), apathy, sluggishness, as well as dry skin and eyelid oedema. She had no breast development nor pubic hair.Causes of vaginal bleeding such as trauma, possible abuse, foreign body insertion and urethral prolapse were excluded. There was no purpura or bleeding from other sites.The abdominal sonogram revealed bilateral ovarian cystic masses (V:17.29 cm3 and 16.48 cm3, right and left, respectively). Bone age was delayed almost 3 years behind her chronological age. Laboratory tests revealed TSH 860 μIU/mL, T4 0.71 μg/dL, FSH 8.12 mIU/mL, LH < 0.1 mIU/mL, estradiol 193 pg/mL, thyroid peroxidase Abs 184 IU/mL, thyroglobulin Abs 212 IU/mL, Β-hCG < 0.1mU/mL, confirming severe hypothyroidism. The girl was diagnosed with VWGS due to unrecognized chronic lymphocytic thyroiditis and LT4 treatment (75mug/OD) was initiated. The patient responded with complete remission of symptoms and regression of the ovarian cysts one month after initiation of treatment. It is very important to think of VWGS and investigate for thyroid status during the evaluation of ovarian cysts or isolated premature menarche. Early recognition can eliminate unnecessary surgery to remove ovarian cysts, as appropriate treatment with levothyroxine leads to complete remission of symptoms. Even when the diagnosis of VWGS is confirmed, practitioners must be watchful to consider surgical intervention in the presence of uncontrolled vaginal bleeding, hemodynamic instability, or failure of regression of ovarian cysts with exogenous thyroid hormone replacement. Presentation: Friday, June 16, 2023

Synchronous Bilateral Ovarian Mesonephric-like Adenocarcinomas with Separate Origins from High-Grade Mullerian Adenosarcoma and Endometriosis: Report of a Rare Case.

Mesonephric-like adenocarcinoma (MLA) of the ovary is a recently recognized, rare malignancy with aggressive clinical behavior, and is thought to originate from Mullerian epithelium with mesonephric transdifferentiation. Emerging evidence suggests that MLA may be classified as an endometriosis-associated neoplasm. The presence of a sarcomatous component within MLA is extremely rare, with common differential diagnoses including the spindle cell component of MLA, carcinosarcoma, as well as mixed Mullerian adenocarcinoma and adenosarcoma. Herein, we report a 58-year-old Chinese woman with bilateral ovarian solid-cystic masses. The left ovarian mass comprised a biphasic tumor with a predominantly high-grade sarcomatous component displaying heterologous mesenchymal differentiation, including liposarcoma, rhabdomyosarcoma and chondrosarcoma-like areas, with a null-type p53 expression. The epithelial component ranged from a bland appearance in areas diagnostic of adenosarcoma to a clearly invasive carcinoma, both with mesonephric-like phenotype, being negative for estrogen receptor, progesterone receptor, and Wilms' tumor 1, variably positive for paired box gene 8, GATA binding protein 3, and thyroid transcription factor 1, with a wild-type p53 expression. The differing p53 expression between the epithelial and sarcomatous elements mitigated against a diagnosis of carcinosarcoma. The right ovarian mass showed endometriosis with focal direct evidence of the development of malignancy within a benign endometriotic cyst, exhibiting the identical immunoprofile of MLA but originating as another malignancy. To the best of our knowledge, this case represents the first reported case of synchronous bilateral ovarian MLAs with separate origins, from high-grade Mullerian adenosarcoma and endometriosis respectively, which broadens the morphologic spectrum of MLA and provides further evidence supporting the Mullerian origin theory.

Menstrual irregularity and chronic pelvic pain revealing Krukenberg tumours The contribution of imaging

The Krukenberg tumour represents 1-2% of all ovarian masses. It is a rare metastatic tumour of the ovary with a reserved prognosis. The purpose of this case-based article is to discuss imaging features and findings associated with Krukenberg tumours. We present the case of a 30-year-old woman with menstrual irregularity and chronic pelvic pain presenting bilateral ovarian masses on ultrasound. CT scan showed an antro-pyloric wall thickening and peritoneal carcinomatosis. Endoscopy was not conclusive. Biopsy performed during a staging laparoscopy confirmed the diagnosis of Krukenberg tumour. Imaging methods have a valuable contribution in establishing the diagnosis and prognosis of this tumour.

Bilateral ovarian mature teratoma in a middle aged female A rare entity

Mature cystic teratomas of ovary accounts for 10-20% of bilateral ovarian neoplasm. Majority of ovarian mature cystic teratomas are unilateral. Bilateral presentation accounts for only 10-15%. Our case is of 35year multiparous women presented with chief complaints of abdominal pain. Imaging methods like USG abdomen and pelvis, MRI revealed presence of bilateral cystic ovarian masses suggestive of bilateral teratomas. On gross examination showed bilateral cystically enlarged ovarian masses with abundant grey yellow pultaceous material, hair tuft and Rokitansky protuberance. Microscopically showed presence of ectodermal, mesodermal and endodermal elements in bilateral ovarian cysts.

Bilateral ovarian mass due to primary hypothyroidism - a case report

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

TO STUDY AND ASSESS THE VALIDITY OF THE RISK OF MALIGNANCY INDEX(RMI-4) IN DISCRIMINATING BETWEEN BENIGN AND MALIGNANT OVARIAN MASSES

Introduction:The most fatal of all gynecological cancers is ovarian cancer. Of all gynecological cancers, it has the greatest fatality-to-case ratio. It is the 4th most prevalent cancer among women. The lifetime risk of being diagnosed with ovarian carcinoma is 1% to 1.5 %, with a nearly 0.5% chance of dying from it. Suboptimal primary cytoreductive surgery has great prognostic significance. The reason was because of inappropriate preoperative evaluation, which decides the kind of surgery being performed and the surgeons expertise of the surgeon in performing staging laparotomy if indicated. Hence, a gynecologist must be able to differentiate benign from the malignant ovarian mass. Several studies have revealed that the diagnosis of ovarian mass by investigations like Ultrasonogram, Doppler, MRI, CT has been proved to be uncertain despite the need for expertise. The goal of this study was to assess the ability of the Risk of Malignancy Index Scoring System (RMI- 4) in differentiating benign from malignant ovarian masses and to compare the scoring patterns to histopathological findings. Objectives: To validate the efficiency of the Risk of Malignancy Index(RMI-4) in discriminating benign and malignant ovarian tumors.To correlate the calculated value of the Risk of Malignancy Index(RMI-4) to the histopathological report.To evaluate the performance of individual parameters and the Risk of Malignancy Index(RMI-4) in differentiating benign and malignant ovarian tumors. Materials and methods: A prospective observational study in one year from date of approval from institutional ethical committee i. e from 2019 to 2021on women attending Gynecology outpatient and inpatient department diagnosed with an ovarian mass at Government Maternity Hospital, Tirupati. Results : 50 women with ovarian mass were selected for the study. Patients with endometriosis, fibroid uterus, Pelvic inflammatory disease, menstruation, pregnancy, ectopic pregnancy, and other non-gynecological conditions like peritonitis, diverticulitis, inflammatory bowel disease, tuberculosis, liver disease, recent surgery, are excluded. General and gynecological examinations were done for all cases. Ultrasound pelvis was done for all the patients and the presence of bilateral ovarian mass, multiloculated tumor, presence of solid areas, ascites, and extra ovarian metastasis was noted. An ultrasound score (U) of 1 was given if none or one of the features are found, and a score of 4 was given if two or more of these features were noted. Size of the tumor measured. A score of 1 was given for a tumor less than 7 cm and a score of 2 for a tumor size more than or equal to 7 cm size. Postmenopausal status was defined as more than one year of amenorrhea or age older than 50 years for women who had undergone hysterectomy they were scored as M=4. All other patients who did not meet these criteria were defined in a premenopausal status which scored M=1. The Risk of Malignancy Index (RMI-4) was calculated by using the formula: RMI-4 = U x M x S x CA 125. Laparotomy was done for all cases and the specimen was sent for histopathological examination which is the gold standard.90% of the tumors were benign and 10% were malignant.Prediction of malignancy by CA 125, ultrasound, and RMI-4 was analyzed.The optimal cut-off value of RMI-4 was 450 with a sensitivity of 95.56%, specificity of 100%, PPV of 100%, and NPV of 71.43%.Though the Specificity and PPV of CA125 were high, Sensitivity was less (86.67%).This study showed that RMI-4 had better performance than CA 125, USG score, and menopausal score in predicting malignancy. Conclusion:RMI-4 is a multimodal approach that is simple and easily applicable in the preoperative evaluation of a patient with an ovarian mass.Risk of Malignancy Index -4 (RMI-4) is a reliable method in discriminating benign and malignant ovarian mass preoperatively.Risk of Malignancy Index -4 (RMI-4) is a better scoring index in differentiating benign and malignant ovarian mass when compared to individual tests of ultrasonogram or CA125 level.The optimal cut-off point of Risk of Malignancy Index -4 (RMI-4) at which benign and malignant tumors can be discriminated was 450 in the present study.RMI-4 is the most useful scoring system in the proper selection of patient.Since the specificity of Risk of Malignancy Index -4 (RMI-4) was high, there is a potential role for this index in the selection of cases for conservative management or minimally invasive surgery in case of benign ovarian masses.

Bilateral enlarged ovarian masses and hypothyroidism

Bilateral enlarged ovarian masses and hypothyroidism

92. Bilateral Ovarian Masses Masquerading as Sertoli-Leydig Tumors

92. Bilateral Ovarian Masses Masquerading as Sertoli-Leydig Tumors

Somatic BAP1 Loss in Ovarian Serous Borderline Tumor and Recurrent Low-grade Serous Carcinoma From a Germline BAP1 Mutation Carrier.

To the Editor: In a recent issue, Dr. Oliva and colleagues proposed the use of the immunohistochemical markers, Claudin-4 and BAP1, to distinguish between low-grade serous neoplasms and peritoneal mesothelioma 1. This article is of particular interest to us, as we have recently published on a cohort of 119 clinically annotated low-grade serous carcinomas, confirmed by central pathology review, with molecular profiling by targeted next-generation sequencing 2. In this cohort, we encountered 1 patient who represents an unusual exception to relying on loss of BAP1 expression to exclude the diagnosis of a low-grade serous neoplasm. This was a 59-yr-old female who underwent comprehensive surgical staging for bilateral ovarian masses. Final pathology revealed a stage IIIC serous borderline tumor involving bilateral ovaries (Fig. 1A), associated with noninvasive peritoneal implants and involvement of pelvic lymph nodes. After 7 yrs, she developed recurrent disease involving the sigmoid colon, in the form of metastatic low-grade serous carcinoma (Fig. 1B). Both primary and recurrent tumors showed a similar immunophenotype, characterized by strong diffuse expression of epithelial/Mullerian markers, including Claudin-4 (Fig. 1C), BerEP4, PAX8, ER, and PR, while negative for markers of mesothelial differentiation, namely, calretinin, and D2-40. Somatic mutational profiling by targeted next-generation sequencing revealed the low-grade serous carcinoma to harbor a BAP1 frameshift mutation (Y241Lfs*2). Germline testing further revealed a heterozygous BAP1 germline mutation (c.1110dupC, p.Met371Hisfs*27). Loss of BAP1 expression by immunohistochemistry in the low-grade serous carcinoma, as well as the prior serous borderline tumor (Fig. 1D), was consistent with bi-allelic inactivation of BAP1 as an early event in the molecular pathogenesis of this case.FIG. 1: Low-grade serous neoplasms associated with germline BAP1 mutation. (A) Ovarian serous borderline tumor showing characteristic hierarchical branching papillae lined by stratified columnar epithelium (inset: ciliated cells observed at high-magnification, consistent with tubal differentiation). (B) Recurrent invasive low-grade serous carcinoma involving muscularis propria of the sigmoid colon, showing infiltrating nests and micropapillae composed of tumor cells with small monotonous nuclei, and scattered psammoma bodies. Immunohistochemical analysis of the serous borderline tumor showing (C) diffuse expression of Claudin-4 and (D) loss of BAP1 expression in tumor cells with retained nuclear staining in non-neoplastic stromal cells.To our knowledge, this represents the first reported case of a BAP1-deficient low-grade serous neoplasm. It illustrates how genetic alterations of oncogenes and tumor suppressor genes are not tissue or disease-specific and emphasizes the importance of applying several cell lineage markers, along with morphologic correlation, for appropriate diagnostic classification of tumor type.

Synchronous Primary Carcinoma of Cervix and Ovary-A Rare Case Report

Synchronous malignancies of female genital tract account for less than 3% of all genital tract neoplasms. Amongst synchronous tumours, ovarian with endometrial carcinoma accounts for 51.7% while ovarian with cervix accounts for less than 10% of them. Unusually, they have a favourable prognosis with 5 years survival rate being 73.3%. Authors hereby, present a case of 51-years-old female presented with bleeding per vagina and on examination cervical mass was detected. The cervical mass biopsy confirmed cribriform adenocarcinoma of cervix. Uterus and cervix could not be removed as it was FIGO (The International Federation of Gynecology and Obstetrics) stage III B (inoperable) thus was managed on chemotherapy and radiotherapy. A month later she presented with bilateral ovarian masses for which she had undergone bilateral oophorectomy and omentectomy. Histopathology confirmed moderately differentiated mucinous cystadenocarcinoma of bilateral ovaries. Thus a case of synchronous carcinoma of cervix and ovary was concluded. She tolerated all managements successfully.

ODP055 The methylation pattern of a unique Bilateral para-overian Adrenal Rest Tumor in a girl with Nicotinamide Nucleotide Transhydrogenase mutation

Abstract Background Patients with NNT (Nicotinamide Nucleotide Transhydrogenase) gene mutations, a rare cause of glucocorticoid and mineralocorticoid deficiency require hormone replacement therapy. Adrenal Rest Tumor (ART) in females, reported so far only in noncompliant patients with congenital adrenal hyperplasia and elevated ACTH levels, is very rare (<20 cases world-wide). This study characterizes the pathophysiology, the molecular ontogeny and methylation analysis of a unique ART in a female with adrenal failure due to the G200S mutation in NNT Clinical presentation and Method: A 15-year-old girl, with homozygous G200S NNT-mutation followed for adrenal insufficiency reappeared to follow-up with severe virilization and elevated serum testosterone (28.3 nmol/l) and ACTH (> 1500 pmol/l). Pelvic MRI and Ultrasound demonstrated one sided paraovarian round tumor with pathological vascularization. Laparoscopic exploration revealed bilateral para ovarian mesosalpinx masses involving the serosa of the Fallopian tube, (3 and 1 cm in diameter). The testosterone level normalized within one day after surgical removal of those masses (0.2 nmol/l). Results Histopathology demonstrated a pattern of adrenal rest tissue with strong intracellular positive staining for adrenal markers such as SF-1, calretinin, MART1, inhibin and the pituitary marker ACTH. The staining for ovarian characteristic markers such as PAX 8 was negative. Studying mRNA extracted from the tissue by RT-PCR revealed the positive Gene expression of Cyp17a1, Cyp21a2 and Mc2r cDNA but not Pomc suggesting adrenal but not pituitary origin of the tissue. We further profiled the epigenomic profile of several adrenal rest tumors from both ovarian and testes origins using the Infinium Methylation EPIC array. We characterized the adrenal-specific features by comparing the tumors from the two different originating sites to published methylation array data on healthy adrenal tissue. We further investigated cancer-specific methylation changes to identify activated cancer pathways, and used the methylation arrays to identify somatic copy number alterations. Finally, we analyzed the likely developmental origin of these tumors by comparing to published methylation array data of developmental and adult reproductive tissues. Conclusion This study exemplifies severe virilization that resulted from a unique and rare type of ART in ovarian related tissue that was caused by incompliance to treatment in a patient with NNT gene mutation. The laparoscopic surgical findings indicate that imaging techniques may be insufficient in identification of such rest tumors and call for laparoscopy when clinical findings are suggestive. An early detection of this tumor could preserve fertility. Using histopathology markers cDNA studies and epigenomic profiling by methylation studies, our study shows for the first time that female ART originates from adrenal cells. The growth of a functional androgen producing "tumor" indicates that functional NNT protein is NOT required for androgen synthesis in contrast to glucocorticoids and that a zona reticularis similar tissue in ART is responsive to ACTH stimulation. Presentation: No date and time listed

Primary extranodal diffuse large B cell lymphoma: a rare differential diagnosis of bilateral ovarian masses in the pediatric age group

article: Primary extranodal diffuse large B cell lymphoma: a rare differential diagnosis of bilateral ovarian masses in the pediatric age group - Chirurgia 2022 October;35(5):288-90 - Minerva Medica - Journals

CT imaging phenotypes linked to CA125 and HE4 biomarkers are highly predictive in discriminating between hereditary and sporadic ovarian cancer patients.

Hereditary ovarian cancers (HOC) represent about 23% of ovarian cancer (OC) cases: they are most frequently related to germline mutations in the BRCA genes. We aimed to compare CA125/HE4 serum levels and Computed Tomography (CT) features at time of ovarian cancer (OC) diagnosis in two populations: BRCA mutant and BRCA wild-type (WT) OC, and to investigate the relationship between this laboratory and radiological biomarker and BRCA mutation status. This retrospective study included 60 newly diagnosed OC patients with FIGO stage IIIC-IV disease, tested for BRCA1/2 germline mutation status of which preoperative CT scan and serum tumor marker assay were available. The median level of CA125 (708 U/mL) was significantly higher (p < 0.002) in BRCA1/2 mutated patients than in WT patients (176 U/mL), whereas the median level of HE4 (492 pmol/L) was significantly higher (p < 0.002) in WT than in BRCA-mutated patients (252 pmol/L). BRCA mutation carriers showed a higher incidence of bilateral ovarian masses (p = 0.0303) characterized by solid structures (p < 0.00001), higher peritoneal tumor load, macronodular implants >2 cm (p = 0.000099), increased frequency of lymphadenopathies (p = 0.019), and metastasis (p = 0.052) compared to patients with BRCA WT. Tumor markers and CT patterns may help in identifying BRCA mutation status in OC directing patients towards a personalized treatment.