The origin of ovarian Leydig cells: a possibly solved enigma?

Over the years, the origin of ovarian Leydig cells has been, and still is, a topic subject to deep debate. Seven years ago, we proposed that this origin resided in intraneural elements that came from a possible reservoir of neural crest cells, a reservoir that may be located in the ganglia of the celiac plexus. We believe we have found the evidence necessary to prove this hypothesis.

Amplifications of EVX2 and HOXD9-HOXD13 on 2q31 in mature cystic teratomas of the ovary identified by array comparative genomic hybridization may explain teratoma characteristics in chondrogenesis and osteogenesis.

BACKGROUND: Teratomas are a common type of germ cell tumor. However, only a few reports on their genomic constitution have been published. The study of teratomas may provide a better understanding of their stepwise differentiation processes and molecular bases, which could prove useful for the development of tissue-engineering technologies. METHODS: In the present study, we analyzed the copy number aberrations of nine ovarian mature cystic teratomas using array comparative genomic hybridization in an attempt to reveal their genomic aberrations. RESULTS: The many chromosomal aberrations observed on array comparative genomic hybridization analysis reveal the complex genetics of this tumor. Amplifications and deletions of large DNA fragments were observed in some samples, while amplifications of EVX2 and HOXD9-HOXD13 on 2q31.1, NDUFV1 on 11q13.2, and RPL10, SNORA70, DNASE1L1, TAZ, ATP6AP1, and GDI1 on Xq28 were found in all nine mature cystic teratomas. CONCLUSIONS: Our results indicated that amplifications of these genes may play an important etiological role in teratoma formation. Moreover, amplifications of EVX2 and HOXD9-HOXD13 on 2q31.1, found on array comparative genomic hybridization, may help to explain the characteristics of teratomas in chondrogenesis and osteogenesis.

Mucinous cystadenoma and carcinoid tumor arising from an ovarian mature cystic teratoma in a 60 year-old patient: a case report.

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.

Exploring the role of SOX 2 and OCT 4 in the pathogenesis of gliomatosis peritonei: the clinicopathological profile of eleven cases.

Objective: Gliomatosis peritonei (GP) is a rare entity characterized by multiple mature glial tissue implants in association with ovarian teratomas in the peritoneum and omentum. To date, only 100 cases have been published. Not much is known about the origin, clinicopathological profile or prognosis of GP. SOX2 and OCT4 are recently recognized markers of embryonic stem cell differentiation. Here, the role of SOX2 and OCT4 in the pathogenesis of 11 cases of GP are reported and clinicopathological factors are described. Material and Methods: This was a retrospective study of six years duration (2017-2022). All the cases of GP were retrieved from archives, the diagnosis was confirmed and clinicopathological factors were noted. Immunohistochemical (IHC) investigation for glial fibrillary acid protein (GFAP) and S100 was noted wherever available. IHC for SOX2 and OCT4 was performed using an avidin-biotin technique. Results: There were 11 cases of GP identified. The median age was 29 years and 1/11 cases had nodal gliomatosis as well. There were eight cases of immature teratoma and three cases of mature cystic teratoma. SOX2 was positive in all foci of GP, while OCT4 was negative. These foci were also positive for GFAP and S100. Conclusion: A possibility of GP should be considered as a differential, clinically and radiologically, in cases of omental nodularity. Adequate sampling at the time of surgery is essential to rule out metastasis or growing teratoma syndrome. SOX2, a stem cell marker inducing neural differentiation, may play a crucial role in the development of GP in association with other transcription factors.

Co-existence of Ovarian Teratomas With Other Gynecological Tumors.

INTRODUCTION: This study aims to investigate the co-existence of ovarian teratomas with other benign or malignant gynecological tumors in women who underwent gynecological surgery. METHODS: We retrospectively reviewed all women who underwent gynecological surgery over a 15-year period. Pre-operative, surgical, and histological records were obtained from women who presented with gynecological pathology, aiming to discover a possible link between ovarian teratomas and other gynecological tumors. RESULTS: Of the total patient sample, 288 (8.2%) had a mature teratoma, and 9 (0.3%) had an immature teratoma. The mean age was 38.0±13.3 years and 30.9±11.1 years, respectively. Women with mature teratoma showed a positive correlation with struma ovarii (SO, p=0.001). Moreover, we reported a positive linear relationship between struma ovarri and thecoma. Of the 288 women with a mature teratoma, 1 (0.3%) had co-existent endometrioid ovarian cancer, and 1 (0.3%) had borderline cancer. There were 14 women (4.9%) with a co-existent serous cystadenoma, 7 (2.4%) with a mucin cystadenoma, 1 (0.3%) with a thecoma, 4 (1.4%) with struma ovarii, 3 (1.0%) had Brenner cyst, 3 (1.0%) had ovarian fibroma, 2 had endometriosis (0.7%), and 8 (2.8%) had endometriomas. Of a total of nine women with immature teratomas, one (11.1%) had a serous cystadenoma. CONCLUSIONS: Ovarian teratomas may co-exist with other gynecological diseases. Our study reports various cases of the co-existence of several gynecological tumors with teratomas.

Malignant Transformation of an Ovarian Mature Cystic Teratoma to a Malignant Melanoma.

Ovarian mature cystic teratomas comprise tissue derived from all three germ layers and constitute 10-20% of all ovarian neoplasms. Malignant transformation of mature cystic teratomas (MCT) is very rare with an incidence of 0.17-2%. The most frequently reported malignancies include squamous cell carcinoma and adenocarcinoma. Herein, we describe a case of a 56-year-old female who presented with abdominal pain and underwent total abdominal hysterectomy with bilateral oophorectomy and omentectomy for a ruptured dermoid cyst. Histological examination showed nests of pleomorphic cells with prominent nucleoli and melanin pigment in the background of a mature cystic teratoma. These cells showed immunoreactivity for Melan-A and HMB-45, thus confirming the diagnosis of malignant transformation of a mature cystic teratoma to a malignant melanoma.

Successful laparoscopic resection for giant mature cystic teratoma of the pancreas: a case report and surgical refinements.

BACKGROUND: Mature cystic teratomas or dermoid cysts of the pancreas complicate surgical approaches because of their anatomical position and ever-growing size. Herein, we report a case of a giant mature cystic teratoma of the pancreas that was successfully resected via complete laparoscopic distal pancreatectomy (LDP). CASE PRESENTATION: A 39-year-old female patient was referred to our hospital for the evaluation of a pancreatic tumor. Three years of follow-up revealed that the tumor had increased in size to 18 cm, with hyperintense solid components on diffusion-weighted magnetic resonance imaging. Considering the possibility of malignancy, we decided to perform an LDP. The capsule appeared solid enough to withstand the retraction of the endoscopic forceps. Tumor size made it difficult to dissect the dorsal side of the tumor from the caudal to the cranial side. Early transection of the pancreas and additional ports facilitated dissection of the dorsal side of the tumor. We completed the LDP without intraoperative cyst rupture. On pathological examination, the tumor was diagnosed as a mature cystic teratoma originating from the pancreatic tail. The patient was discharged on postoperative day 13 with no complications. CONCLUSION: LDP may be an option for surgical procedures in patients with large cystic lesions of the pancreatic body or tail. Intraoperative observation of the tumor and surgical refinement are necessary to complete the laparoscopic procedure without tumor rupture.

Diagnostic challenges in primary ovarian carcinoid: Insights from radiological imaging-A case study.

Primary ovarian carcinoid (POC) is a very rare subset of ovarian tumors, presenting diagnostic challenges due to its inconclusive radiological imaging. In this case study, we present a 30-year-old nulliparous female with subfertility complaints and irregular menstrual cycles, who was initially misdiagnosed with an ovarian cyst. Subsequent comprehensive imaging, including Color Doppler, revealed high vascularity, and prompting suspicion of malignancy. Surgical resection and histopathological evaluation ultimately confirmed the presence of a rare Carcinoid tumor, insular type. This case emphasizes a multidisciplinary approach to the early detection and accurate diagnosis of POCs.

Mature cystic teratoma of the fallopian tube diagnosed preoperatively with computed tomography and ultrasound: A case report.

Mature cystic teratoma of the fallopian tube is extremely rare, with fewer than 100 cases reported in the English literature. Clinical symptoms are nonspecific, and the diagnosis is most often made after surgical resection. A preoperative diagnosis has the potential to aid with surgical planning and patient counseling. We present a case of a large completely intratubal mature cystic teratoma in a 40-year-old woman who presented to her primary care provider with the gradual onset of right lower quadrant/pelvic pain. The patient's symptoms prompted evaluation with computed tomography (CT) and ultrasound. Imaging showed a dilated right fallopian tube containing fluid, macroscopic fat, and calcifications, facilitating the preoperative diagnosis of mature cystic teratoma of the fallopian tube. Because of her symptoms, she elected to undergo salpingectomy and the diagnosis was pathologically confirmed. The patient's symptoms resolved following surgery.

Poorly differentiated mucinous carcinoma of the ascending colon complicated by bilateral ovarian mature cystic teratomas in a 17-year-old female patient: a case report.

BACKGROUND: Colorectal cancer (CRC) is one of the most common cancers worldwide, and screening colonoscopy has led to a decreasing incidence rate. However, the incidence of CRC is increasing among young people, especially adolescents and young adults (AYAs) who are not routinely screened. Although CRC is the fourth most common cancer among AYAs, it is extremely rare. In younger patients, CRC is often diagnosed later, and the proportion of patients with advanced CRC is higher than that in older patients. We herein present a case of poorly differentiated mucinous carcinoma of the ascending colon complicated by bilateral ovarian mature cystic teratomas (MCTs) in an AYA. CASE PRESENTATION: A 17-year-old female patient presented with a chief complaint of abdominal pain and diarrhea that had persisted for more than 3 years. Colonoscopy revealed circumferential wall thickening of the ascending colon, and colonic biopsy revealed a mucous mass and findings of adenocarcinoma, predominantly signet ring cell carcinoma. Abdominal computed tomography (CT) and pelvic magnetic resonance imaging (MRI) showed bilateral ovarian tumors. Laparoscopic right hemicolectomy and enucleation of bilateral ovarian tumors were performed. Although the ascending colon cancer formed a large mass, there were no signs of peritoneal dissemination or direct invasion to the surrounding organs. Microscopically, the ascending colon was a poorly differentiated mucinous carcinoma with signet ring cell carcinoma and lymph node metastasis (9/42). The ovarian tumors were diagnosed as MCTs without any malignant components. The pathological diagnosis was ascending colon cancer (pT4aN2bM0, pStage IIIC) and bilateral ovarian MCTs. Microsatellite instability (MSI) testing was negative, and there were no gene mutations in either RAS or BRAF. Postoperative adjuvant chemotherapy with oxaliplatin and 5-FU was started. CONCLUSIONS: We presented a case of locally advanced ascending colon cancer in a 17-year-old female patient. CRC rarely occurs in AYAs. However, the incidence has gradually increased in recent years. It should be considered as a differential diagnosis for young patients with long-term abdominal symptoms of unknown cause.

Mature Spinal Teratoma: A Case Report.

We presented an unusual case of a teratoma in a 76-year-old female who began four years ago with paresthesias and hypoesthesias in the sacral and gluteal regions. She denied weakness or gait instability. The magnetic resonance imaging showed an intradural lesion within the cauda equina at levels L2-L3. We decided to perform a posterior midline approach to the lumbar region to expose L2-L3 levels. After doing the L2-L3 laminectomy and the durotomy, we found a solid lesion surrounded by nerve roots with heterogeneous content. Through the meticulous separation of the nerve roots surrounding the lesion, we punctioned it, observing the exit of melanocytic material. Histopathological findings showed germinal neoplasia without immature neuroepithelium or malignant component; therefore, the diagnosis of mature teratoma was made. The patient was discharged without any aggregate neurological deficit. At the six-month follow-up visit, the patient continued with paresthesia in the gluteal region without motor weakness and reported minimal gait improvement.

Low-Grade Glioma within Mature Cystic Teratoma in a Patient with Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Case Report.

Introduction: Mature cystic teratoma (MCT) is a common type of ovarian tumors that can, in rare cases, undergo malignant transformation. It has been discovered that MCT patients may experience psychiatric symptoms due to the presence of anti-N-methyl-D-aspartate receptor (NMDAR) antibodies, which is the underlying cause of autoimmune encephalitis. Here, we present the first documented case of a patient with anti-NMDAR encephalitis who also had a morphology of low-grade glioma within MCT. Case Report: A 45-year-old woman presented with seizures, altered consciousness, abnormal NMDAR antibody IgG titers, and abnormal brain MRI findings confirm the diagnosis of anti-NMDAR encephalitis. Physical examination revealed an oval mixed echo mass measuring 54 × 37 mm in the left adnexal area on ultrasound of the uterine appendage. The patient underwent laparoscopic left ovarian and fallopian tube resection. The pathological gross examination revealed a pile of grayish-red cystic and solid fragmented tissue measuring 7 × 6 × 2.2 cm. Histological examination revealed characteristic components of MCT. Furthermore, the solid component of the gross tissue showed proliferative and densely arranged astrocytes with cellular atypia, which were positive for GFAP and Olig-2, negative for IDH1 and EMA. And the Ki67 index was approximately 10%, suggesting the presence of low-grade glioma lesions. The patient was diagnosed with malignant transformation of MCT into a morphology of low-grade glioma, not otherwise specified. After the removal of the ovarian tumor, the patient's psychiatric symptoms improved. Conclusions: Low-grade glioma within MCT is a rare occurrence, and the presence of this malignant transformation in patients with anti-NMDAR encephalitis is even more uncommon.

Squamous cell carcinoma malignant transformation in mature cystic teratoma of the ovary: a case report and review of the literature.

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.

Primary Right Adrenal Teratoma in a Postmenopausal Female: a Case Report and Review of Literature.

Non-seminomatous germ cell tumors with structural components from all three cellular lineages are called teratomas. We report a rare case of a primary right adrenal teratoma in a postmenopausal female, presenting with abdominal pain. Ultrasound revealed a complex cystic shadow in the perihepatic region superior to the upper pole of the right kidney, which was suggestive of a complex supra-renal space-sequence-occupying lesion. Computerized tomography revealed a large-sized mature single multilobulated complex cystic lesion in the right hypochondrial lumbar region arising from the right adrenal gland. A right-sided transperitoneal adrenalectomy was performed. The resected mass (18 × 13 × 10 cm) was well encapsulated. Cut surfaces showed cystic mass filled with necrotic gray-white pultaceous material, along with a solid white gelatinous area. Microscopic sections showed a tumor which displayed differentiation along various tissue lineages. After immunohistochemical examinations, the tumor was confirmed to be a mature cystic teratoma. Mature teratomas show a good prognosis, and surgical resection and follow-up remain the standard approach.

Invasive micropapillary carcinoma of the breast and bilateral ovarian mature cystic teratoma with benign Brenner tumor in a postmenopausal woman - An uncommon occurrence.

The synchronous occurrence of bilateral ovarian tumors and breast malignancy often raise the suspicion of a Krukenberg tumor or a hereditary breast and ovarian cancer syndrome, both of which are uncommon in clinical practice. A 58-years-old postmenopausal woman had a right breast lump and was diagnosed as infiltrating duct carcinoma, no special type, and incidentally detected bilateral adnexal mass with the clinical suspicion of Krukenberg tumor. However, following the radical surgical excision of the right breast and bilateral ovaries, the right breast showed invasive micropapillary carcinoma (IMPC) while the ovaries showed mature cystic teratoma (MCT) with benign Brenner tumor. IMPC of the breast along with bilateral ovarian MCT with benign Brenner tumor is an unusual clinical occurrence in a postmenopausal female and thus worthy of documentation. It should be categorized as a non-hereditary synchronous tumor. The histomorphology augmented by immunohistochemistry and appropriate clinical context is pivotal in rendering a correct diagnosis.

Pigmented epithelioid melanocytoma arising from a teratoma of a Carney complex patient.

A 25-year-old female Carney complex patient with a PRKAR1A mutation who had undergone surgery to remove teratomas visited our dermatology department. She was suspected of having a malignant melanoma in a teratoma. On clinical examination, a black nodule was found within the cyst. On histopathological examination, the black lesion was composed of heavily pigmented round cells with vesicular nuclei and single prominent nucleoli. Additionally, there were large cells with irregularly shaped nuclei. Upon immunohistochemical examination, the large, irregularly shaped cells were positively stained with Melan A, HMB45, S-100 protein, SOX10, CD10 (focally), and BRAFV600E , but negatively stained with PRAME. Based on the histopathological features, we diagnosed the patient with pigmented epithelioid melanocytoma (PEM) in a teratoma of a Carney complex patient. This is the first case of PEM developing from a teratoma. Since PEM lesions may spread to regional lymph nodes, careful follow-up is necessary.

Ectopic Ocular Tissue in a Mature Cystic Teratoma of Ovary: a Rare Case Report.

Teratomas are tumours developed from germ cell layers, containing derivatives from all three germ cell layers. Mature cystic teratomas are the most common germ cell neoplasms and contain mature elements derived from germ layers. Many previous reports show presence of retinal structures in teratomas. Here we have reported a rare case of mature teratoma of ovary containing corneal, conjunctival, and lenticular structure. A 38-year-old female presented with a 6cm×4cm×3cm echogenic mass involving left ovary. Histopathological examination of the cystectomy specimen showed presence of all three germ cell layer derivatives along with corneal epithelium with prominent goblet cells, conjunctival epithelium, and lenticular structure. The presence of ocular structure in an ovarian mature cystic teratoma is an extremely rare event.

A rare case of squamous cell carcinoma associated with a huge ovarian dermoid cyst in a postmenopausal woman.

Malignant transformation of mature cystic teratoma (MCT) is a well-known but uncommon phenomenon seen mostly in postmenopause women. We report a case of a 65-year-old postmenopausal woman with a malignant transformation of MCT and with a low-grade squamous intraepithelial lesion in her cervix. She was treated surgically by total abdominal hysterectomy with bilateral salpingo-oophorectomy with a preoperative diagnosis of right ovarian teratoma. Her postoperative period was uneventful. On follow-up, the histopathology report revealed a right ovarian dermoid cyst with well-differentiated squamous cell carcinoma; there was no evidence of malignancy elsewhere, including the cervix. Ascitic fluid was also free of malignant cells, and the disease was at stage Ia. The patient did not receive any adjuvant chemotherapy and was followed up with clinical examination postoperatively for 1 year, and there was no evidence of any relapse clinically. Preoperative diagnosis of malignant transformation of squamous cell carcinoma (SCC) is difficult, as there is no specific screening marker and no consensus or standard guidelines available regarding the optimum management of this relatively poorly known entity. Here we emphasize the need for a high index of suspicion of malignant transformation with the presence of factors such as elderly age, the huge size of the tumor, and large solid components in the tumor. Considering the scarcity of case reports and studies about SCC arising from MCT, every experience with malignant transformation of MCT should be reported for a better understanding of the disease presentation and management.

Application of Ultrasound Scores (Subjective Assessment, Simple Rules Risk Assessment, ADNEX Model, O-RADS) to Adnexal Masses of Difficult Classification.

BACKGROUND: Ultrasound features help to differentiate benign from malignant masses, and some of them are included in the ultrasound (US) scores. The main aim of this work is to describe the ultrasound features of certain adnexal masses of difficult classification and to analyse them according to the most frequently used US scores. METHODS: Retrospective studies of adnexal lesions are difficult to classify by US scores in women undergoing surgery. Ultrasound characteristics were analysed, and masses were classified according to the Subjective Assessment of the ultrasonographer (SA) and other US scores (IOTA Simple Rules Risk Assessment-SRRA, ADNEX model with and without CA125 and O-RADS). RESULTS: A total of 133 adnexal masses were studied (benign: 66.2%, n:88; malignant: 33.8%, n:45) in a sample of women with mean age 56.5 ± 7.8 years. Malignant lesions were identified by SA in all cases. Borderline ovarian tumors (n:13) were not always detected by some US scores (SRRA: 76.9%, ADNEX model without and with CA125: 76.9% and 84.6%) nor were serous carcinoma (n:19) (SRRA: 89.5%), clear cell carcinoma (n:9) (SRRA: 66.7%) or endometrioid carcinoma (n:4) (ADNEX model without CA125: 75.0%). While most teratomas and serous cystadenomas have been correctly differentiated, other benign lesions were misclassified because of the presence of solid areas or papillae. Fibromas (n:13) were better identified by SA (23.1% malignancy), but worse with the other US scores (SRRA: 69.2%, ADNEX model without and with CA125: 84.6% and 69.2%, O-RADS: 53.8%). Cystoadenofibromas (n:10) were difficult to distinguish from malignant masses via all scores except SRRA (SA: 70.0%, SRRA: 20.0%, ADNEX model without and with CA125: 60.0% and 50.0%, O-RADS: 90.0%). Mucinous cystadenomas (n:12) were misdiagnosed as malignant in more than 15% of the cases in all US scores (SA: 33.3%, SRRA: 16.7%, ADNEX model without and with CA125: 16.7% and 16.7%, O-RADS:41.7%). Brenner tumors are also difficult to classify using all scores. CONCLUSION: Some malignant masses (borderline ovarian tumors, serous carcinoma, clear cell carcinoma, endometrioid carcinomas) are not always detected by US scores. Fibromas, cystoadenofibromas, some mucinous cystadenomas and Brenner tumors may present solid components/papillae that may induce confusion with malignant lesions. Most teratomas and serous cystadenomas are usually correctly classified.

Parasitic mature cystic ovarian teratoma: A rare case of autoimplantation of a twisted dermoid cyst.

Extragonadal parasitic dermoid cysts are rare. Diagnosis of such extragonadal parasitic teratoma is often done intraoperatively during surgical exploration of abdominal mass.