Genetic Profiling of Sebaceous Carcinoma Arising from an Ovarian Mature Teratoma: A Case Report.

Ovarian mature teratomas (OMTs) originate from post-meiotic germ cells. Malignant transformation occurs in approximately 1-2% of OMTs; however, sebaceous carcinoma arising from OMTs is rare. This is the first report of a detailed genomic analysis of sebaceous carcinoma arising from an OMT. A 36-year-old woman underwent evaluation for abdominal tumors and subsequent hysterectomy and salpingo-oophorectomy. Pathologically, a diagnosis of stage IA sebaceous carcinoma arising from an OMT was established. Eight months post-surgery, the patient was alive without recurrence. Immunohistochemically, the tumor was negative for mismatch repair proteins. A nonsense mutation in TP53 (p.R306*) and a deletion in PIK3R1 were identified. Single nucleotide polymorphisms across all chromosomes displayed a high degree of homozygosity, suggestive of uniparental disomy. Herein, the OMT resulting from the endoreduplication of oocytes underwent a malignant transformation to sebaceous carcinoma via TP53 as an early event and PIK3R1 as a late event.

Use of tocilizumab to treat arthritis associated with mixed connective tissue disease complicated by ovarian teratoma: a case report.

Mixed connective tissue disease (MCTD) is characterized by mixed features of systemic lupus erythematosus, systemic sclerosis, and polymyositis/dermatomyositis and is rare in children. Here, we report a case of MCTD in a 10-year-old girl who presented at our hospital with arthralgia, Raynaud's phenomenon, and fatigue. Blood tests were positive for anti-U1-ribonucleoprotein (RNP) antibodies and for rheumatoid factors (RFs) IgG-RF and anti-galactose-deficient IgG. Levels of myogenic enzymes and hypergammaglobulinemia were elevated. Macrophages were prominent in bone marrow, with scattered phagocytic macrophages. MCTD was diagnosed based on the patient's symptoms and laboratory findings. Methylprednisolone pulse therapy combined with oral tacrolimus was administered, which led to resolution of symptoms. Three months after pulse therapy, arthralgia worsened and methotrexate was administered. Arthralgia improved but did not resolve. Magnetic resonance imaging performed to investigate the hip pain revealed a mature ovarian teratoma, which was surgically removed. Because the pain persisted and interfered with her daily life, she was treated with tocilizumab for joint pain relief, which decreased the pain level. Tocilizumab is a candidate for additional treatment of juvenile idiopathic arthritis-like arthritis associated with childhood-onset MCTD.

Anti-NMDA encephalitis secondary to an ovarian teratoma presenting as altered mental status in a 32-year-old woman: A case report.

NMDA-R encephalitis is an autoimmune encephalitis that is known to be associated with ovarian teratomas. Eighty to 100 % of patients initially present with neuropsychiatric symptoms. Early recognition and intervention are critical to management and prognosis. This case demonstrates non-specific presenting symptoms of NMDA-R encephalitis. A 32-year-old woman presented to the emergency room with headache, nausea, vomiting, and photophobia. She was discharged with probable aseptic meningitis. Eight days later, she represented with delusional thought content, perseverative speech, and bizarre behavior. Cerebrospinal fluid studies showed elevated protein and mild pleocytosis. A computed tomography scan with contrast showed a 35-mm complex cystic lesion in the right adnexa, which was resected. Confirmatory pathology showed a mature cystic teratoma. Paraneoplastic panel later resulted positive for NMDA-R encephalitis. The patient was treated with methylprednisolone, IVIG, plasmapheresis, and rituximab. The clinical course was complicated by a hypersensitivity reaction to rituximab, non-convulsive status epilepticus requiring intubation, dysphagia requiring a PEG placement, a rectal ulcer causing acute blood loss anemia requiring multiple blood transfusions, bilateral hearing loss, and a left lung pneumothorax. The patient's mood, cognition, and motor function were favorably improving 19 months after diagnosis. This case illustrates presenting signs of NMDA-R encephalitis in a young woman as headache and altered mental status followed by psychosis and epilepsy. Treatment should involve a multidisciplinary team and be individualized and escalated in patients with worsening clinical status refractory to first-line therapy. Further research is warranted to understand the optimal treatment strategy for this disease.

Development of immature ovarian teratoma after mature teratoma in a girl with familial ovarian teratoma: A case report.

BACKGROUND: Immature ovarian teratoma is a rare and aggressive neoplasm that affects young women. This report is the first to describe the development of immature teratoma after ovarian cystectomy for mature teratoma of the ovary in an adolescent female with a family history of ovarian teratoma. CASE SUMMARY: A 16-year-old girl who had undergone bilateral ovarian cystectomy for mature teratomas 3 years ago showed bilateral adnexal tumors during her regular ultrasonography follow-up every 6 months. She received laparoscopic bilateral ovarian cystectomy, and final histopathology showed grade-1 immature teratoma of the left ovary and mature teratoma of the right ovary. Laparoscopic left salpingo-oophorectomy and staging procedures were performed again. Her mother, maternal aunt, and maternal grandmother had also received surgeries for mature ovarian teratomas. CONCLUSION: It is important to have guidance on management of patient and family members with familial ovarian teratomas.

Anti-N-methyl-D-aspartate receptor-associated encephalitis: A review of clinicopathologic hallmarks and multimodal imaging manifestations.

Anti-N-methyl-D-aspartate receptor-associated encephalitis (NMDARE) is a rare immune-mediated neuroinflammatory condition characterized by the rapid onset of neuropsychiatric symptoms and autonomic dysfunction. The mechanism of pathogenesis remains incompletely understood, but is thought to be related to antibodies targeting the GluN1 subunit of the NMDA receptor with resultant downstream dysregulation of dopaminergic pathways. Young adults are most frequently affected; the median age at diagnosis is 21 years. There is a strong female predilection with a female sex predominance of 4:1. NMDARE often develops as a paraneoplastic process and is most commonly associated with ovarian teratoma. However, NMDARE has also been described in patients with small cell lung cancer, clear cell renal carcinoma, and other benign and malignant neoplasms. Diagnosis is based on correlation of the clinical presentation, electroencephalography, laboratory studies, and imaging. Computed tomography, positron emission tomography, and magnetic resonance imaging are essential to identify an underlying tumor, exclude clinicopathologic mimics, and predict the likelihood of long-term functional impairment. Nuclear imaging may be of value for prognostication and to assess the response to therapy. Treatment may involve high-dose corticosteroids, intravenous immunoglobulin, and plasma exchange. Herein, we review the hallmark clinicopathologic features and imaging findings of this rare but potentially devastating condition and summarize diagnostic criteria, treatment regimens, and proposed pathogenetic mechanisms.

Adenocarcinoma of sigmoid colon with metastasis to an ovarian mature teratoma: A case report.

BACKGROUND: Colorectal cancer ranks third in global cancer-related mortality, often due to metastases to liver and lungs. Ovarian metastases are less common, accounting for 3.6% to 7.4% of cases. In contrast, mature ovarian teratomas are frequently benign. Tumor-to-tumor metastasis is a rare phenomenon, with a limited number of documented cases. Three cases of mature ovarian teratomas metastasizing from different cancers have been reported. This report focuses on a case of tumor-to-tumor metastasis from sigmoid colon adenocarcinoma to a mature ovarian teratoma. CASE SUMMARY: A 41-year-old Taiwanese woman with no known systemic diseases presented with lower back pain, which led to imaging revealing malignant lesions in the spine, pelvis, liver, and multiple lung metastases. She was diagnosed with sigmoid colon adenocarcinoma with metastases to the liver, lung, bone, and a left ovarian teratoma. Treatment involved radiotherapy and chemotherapy, resulting in regression of the primary tumor and stable lung and liver lesions. Due to abdominal symptoms, she underwent exploratory surgery, unveiling a mature teratoma in the left ovary with signs of metastatic adenocarcinoma. CONCLUSION: Consider resecting mature ovarian teratomas with concurrent colorectal adenocarcinoma to prevent tumor-to-tumor metastasis.

MR diagnosis of SCC arising within ovarian cystic teratomas: analysis of mural nodule characteristics.

PURPOSE: This study aims to evaluate and identify magnetic resonance (MR) findings of mural nodules to detect squamous cell carcinoma arising from ovarian mature cystic teratoma (SCC-MCT). METHODS: This retrospective study examined 135 patients (SCC-MCTs, n = 12; and benign MCTs, n = 123) with confirmed diagnoses across five different institutions between January 2010 and June 2022. Preoperative MR images for each patient were independently assessed by two experienced radiologists and analyzed following previously reported findings (PRFs): age, tumor size, presence of mural nodules, size of mural nodule, and the angle between mural nodule and cyst wall (acute or obtuse). Furthermore, this study evaluated four mural nodule features-diffusion restriction, fat intensity, Palm tree appearance, and calcification-and the presence of transmural extension. RESULTS: There were significant differences between the SCC-MCT and benign MCT groups in terms of all PRFs and all mural nodule findings (p < 0.01). Among the PRFs, "tumor size" demonstrated the highest diagnostic performance, with a sensitivity of 83.3% and a specificity of 88.6%. A combination of the aforementioned four mural nodule findings showed a sensitivity and specificity of 83.3% and 97.6%, respectively, for the diagnosis of SCC-MCT. Regarding diagnosis based on a combination of four mural nodule findings, the specificity was significantly higher than the diagnosis based on tumor size (p = 0.021). Based on these mural nodule findings, three SCC-MCT patients without transmural invasion could be diagnosed. CONCLUSION: Mural nodule MR findings had a higher diagnostic performance than PRFs for SCC-MCT and can potentially allow early detection of SCC-MCTs.

Mature cystic ovarian teratoma with squamous cell carcinoma transformation: a case report and literature review.

OBJECTIVES: Cancerous transformation in mature cystic ovarian teratoma is rare. Herein, we reported a case of squamous cell carcinoma transformation in mature cystic ovarian teratoma and performed an in-depth literature review to highlight the risk factors, prognosis, and suggested treatment for these patients. CASE PRESENTATION: We report a 66-years old postmenopausal woman diagnosed with a 120×90 (mm) mass at the left adnexa compatible with mature cystic ovarian teratoma. Following resection, the histopathological investigations showed malignant transformation in her mature cystic ovarian teratoma, and the immunohistochemistry for cytokeratin (CK) 5/6 and tumor protein 63 (P63) indicated squamous cell carcinoma transformation. She has been observed for her stage IA tumor and has been cancer-free for 6 months. CONCLUSIONS: Although malignant transformation in mature cystic ovarian teratoma is rare, it should be suspected if certain risk factors, e.g., elderly and high tumor size, exist. Stage IA patients' prognosis is favorable, and chemotherapy is not recommended.

Laparoscopic Ovarian-Sparing Surgery for the Management of Benign Ovarian Lesions in Pediatric Patients: A Retrospective Analysis.

INTRODUCTION: Laparoscopic ovarian-sparing surgery (OSS) is safe and effective management approach for benign ovarian lesions in pediatric patients. This study evaluates the outcomes of females younger than 18 years who underwent the OSS procedure between December 2013 and November 2022 at a single institution. MATERIAL AND METHODS: We conducted a retrospective analysis of records from 82 females who underwent OSS for ovarian lesions. OSS was performed based on diagnostic imaging that suggested the benign nature of the lesion. RESULTS: Of the 82 patients studied, 78 had unilateral lesions and 4 had bilateral synchronous lesions. The mean age was 14 years. The majority (62 cases) of the surgeries were laparoscopic, with 20 requiring conversion to open surgery due to factors such as indistinguishable edges and large size of the lesion. We identified 8 cases of ovarian torsion. The surgical specimens revealed that 46 were ovarian teratomas, 2 were granulosa cell tumors, 15 were cystadenomas, and 23 were functional cysts. There were no intraoperative complications. Two recurrences were observed in patients who were initially treated for bilateral ovarian teratomas. One patient developed a pelvic abscess. Additionally, three patients had metachronous ovarian tumors during the follow-up period. In patients followed with ultrasound imaging, the viable ovary was visualized in 83.6% of the cases (61 out of 73). CONCLUSION: Our findings demonstrate the effectiveness of laparoscopic OSS in preserving ovarian function and providing clinical benefits in patients with benign ovarian lesions. We recommend regular follow-up with ultrasound to exclude metachronous lesions or recurrence. LEVEL OF EVIDENCE: III.

An unusual case of three concomitant primary solid cancers with unique histopathological characteristics.

INTRODUCTION AND IMPORTANCE: Struma Ovarii is a rare type of monodermal teratoma with at least 50 % of its mass being thyroid tissue. They make up <1 % of all ovarian tumours and 3 to 5 % of all ovarian teratomas. These tumours are usually benign but malignant transformation is seen in <5 % of cases. CASE PRESENTATION: We present the case of a 45-year-old lady with three synchronous primary cancers on a background of Struma Ovarii; primary lung adenocarcinoma, papillary thyroid carcinoma and ovarian teratoma. Over the course of 18 months, this lady underwent full pelvic clearance of malignant Struma Ovarii and lymph nodes, total thyroidectomy, and an anatomical lung resection. CLINICAL DISCUSSION: This case represents an incredibly rare condition of Struma Ovarii for which there is no firm management consensus. Furthermore, the uniqueness of three separate primaries has to the best of our knowledge not previously been reported in the literature. CONCLUSION: This reinforces the notion that in select patients, radical management with curative intent is entirely possible but requires complete multi-disciplinary and multi-modal sub-specialty collaboration.

Giant Mature Ovarian Cystic Teratoma in a Pediatric Patient: Case Report and Literature Review.

Mature cystic teratomas, also called dermoid cysts, are the most common germ-cell ovarian neoplasms in children. On average, ovarian dermoid cysts are slow-growing neoplasms with a mean size between 6.4 and 7.0 cm that enlarge at a rate of 1.8 mm/year; however, these can reach large dimensions. Giant ovarian tumors are defined as those having a maximum diameter equal to or more than 15 cm; these represent a therapeutic challenge as they increase the risk of wide wound size and surgical invasiveness. In this paper, we present a case of a 10-year-old Hispanic female that complained of abdominal pain, distension, and nausea. Physical examination revealed a mass on the left side of the abdomen and an axial computed tomography found a large pelvic tumor extending to the abdominal region. After a laparotomy approach, pathology evaluation confirmed the diagnosis of mature cystic teratoma. The patient recovered thoroughly and had no complications at a 6-month follow-up. We conducted a literature review including English and Spanish reports about giant ovarian teratomas; we retrieved 16 cases from 2003 to 2023. We concluded that giant ovarian tumors may be underreported, particularly in resource-limited areas where tumors might grow unrecognized, and that English-language bias might play a substantial role in literature reviews involving case reports and case series.

An Extremely Rare Case of Poorly Differentiated Thyroid Carcinoma Arising in Malignant Struma Ovarii and Concurrent Papillary Thyroid Carcinoma: A Case Study.

Ovarian tumors can be classified by their origin - epithelial tumors, germ cell tumors, and stromal tumors. Malignant struma ovarii (MSO) are 0.01% of all ovarian tumors. In order to be classified as a struma ovarii, more than 50% of the teratoma consists of thyroid tissue. The thyroid tissue in the struma ovarii exhibits the same histological and physiological properties as that of the cervical thyroid tissue. Poorly differentiated thyroid carcinoma (PDTC) is an extremely rare occurrence when arising from an MSO. Including this case report, there are only 10 reports of PDTC in the setting of MSO. Of these cases, this patient is the only one who presented with concurrent primary thyroid carcinoma (PTC). This case study examines how invaluable intra-professional collaboration is for appropriate diagnosis, along with attention to detail of identifying markers in pathology sections and use of the appropriate immunohistochemical analysis.

Timely Laparoscopic Intervention for Ovarian Tumor-related Autoimmune Encephalitis: A Challenging Pathology at Tu Du Hospital in Vietnam and Literature Review.

A previously fit and healthy 39-year-old woman was admitted to our tertiary referral hospital with coexisting autoimmune encephalopathy and ovarian tumor. Due to the presence of anti-N-methyl-d-aspartate receptor (anti-NMDAR) in the cerebrospinal fluid, a diagnosis of anti-NMDAR encephalitis was first suggested after ruling out other etiologies. Thus, a laparoscopy was promptly performed to remove the ovarian tumor. The histological endpoint revealed an ovarian teratoma. Consequently, the patient recovered completely in good health condition after 2 months in a coma status. Herein, we report an uncommon case of anti-NMDAR encephalitis associated with ovarian teratoma at our hospital, thus raising awareness of physicians.

Diagnosis of Appendiceal Neuroendocrine Tumors Following Incidental Appendectomy During Benign Gynecologic Laparoscopic Surgeries: A Case Series.

Gastrointestinal neuroendocrine tumors, although relatively rare, are one of the most common appendiceal neoplasms. Patient symptoms can range from asymptomatic to acute appendicitis, and these tumors are often diagnosed after histopathological evaluation. This case series describes five separate cases of appendiceal neuroendocrine tumors diagnosed by histopathological review following incidental appendectomy during benign gynecologic laparoscopic surgeries at a single multispecialty group. Each case had a preoperative diagnosis of chronic pelvic pain. Intraoperatively, the appendix appeared scarred, adhered, or nodular. Two patients required a right laparoscopic hemicolectomy for the management of the appendiceal neuroendocrine tumor. As a result of these findings, it is recommended that the appendix be routinely evaluated during gynecologic surgeries and, if abnormal in appearance, appendectomy should be performed. Additionally, laparoscopic gynecologic surgeons should receive appendectomy training to aid with the early diagnosis and treatment of appendiceal neuroendocrine tumors.

Effect and timing of operative treatment for teratoma associated N-Methyl-d-Aspartate receptor-antibody encephalitis: A systematic review with meta-analysis.

Resection of an underlying ovarian teratoma in patients with N-Methyl-d-Aspartate receptor (NMDAR)-antibody encephalitis is supported by pathophysiological studies demonstrating the production of NMDAR antibodies within the teratoma. This systematic review assesses the clinical effect of teratoma resection and compares early versus late resection. Literature search was performed on the first of October 2022 (MEDLINE, Embase, CENTRAL, Web of Science). Original studies including more than three patients with NDMAR encephalitis and associated ovarian teratoma were included and evaluated with the Study Quality Assessment Tool for risk of bias. Fourteen studies referring to 1499 patients were included and analyzed in four syntheses using the fixed Mantel-Haenszel method. The rate of relapse in patients with ovarian teratoma resection was lower than in patients without resection (risk ratio for relapse 0.30, 95% CI 0.17-0.51), however the certainty level of evidence is very low. Despite some evidence pointing to a beneficial effect of early teratoma resection in patients with NMDAR-antibody encephalitis, systematically accessible data are insufficient to provide recommendations for or against resection, as well as for timing of surgery. The authors received no financial support for the research, authorship, or publication of this article. For the systematic review no clinical-trial database registration had been done.

Adnexal Torsion of a Mature Cystic Ovarian Teratoma With Hemorrhagic Infarction Misdiagnosed As Pelvic Inflammatory Disease in a Perimenopausal Patient: A Case Report.

Mature cystic teratomas are common benign ovarian tumors. They usually occur in young women, less than 40 years old. Our case report concerns a patient of perimenopausal age who came to the hospital complaining about mild abdominal pain, fever below 37.8°C, and diarrhea. The patient had an intrauterine contraceptive device inserted. Based on the clinical findings and imaging, a possible diagnosis of pelvic inflammatory disease was set, and intravenous administration of broad-spectrum antibiotics started immediately. The decision for performing laparotomy was taken after the fact that the clinical condition and blood tests of the patient had shown no improvement. Intraoperatively, the presence of a large twisted ovarian mass with signs of total necrosis due to adnexal torsion was detected. A histological examination of the surgical specimen confirmed the diagnosis of mature cystic teratoma in the right ovary. The postoperative course was uneventful. The presentation of the case follows a brief literature review of this rare medical condition regarding the diagnostic and therapeutic approach of these patients.

"Floating ball sign" in the diagnostic imaging of mature ovarian teratomas in children.

The "floating ball sign" (FBS) is a rarely described visual phenomenon found in mature ovarian teratoma imaging. It is characterized by the presence of movable, spherical areas within the cystic component of a tumor. Such visualization is possible both in cross-sectional imaging and ultrasonography. To evaluate the incidence of FBS in the pediatric population with regard to patients' age and tumor size. This is a retrospective study of pediatric patients operated on in a tertiary pediatric surgical center between January 2009 and December 2022 due to mature ovarian teratoma; the medical records were reviewed for the age at diagnosis, recurrences, tumor size, and their characteristics in preoperative imaging. Eighty-three patients (mean age 14, range 0-17) out of 91 met the inclusion criteria for the analysis. Eighty-seven operations on 90 ovaries were performed. Preoperatively 38 patients underwent CT, 13 MRI, and 39 received only the ultrasound examination. The FBS was identified in preoperative imaging diagnostics in 3 (3.3%) girls (14, 16 and 17 years of age). The average largest tumor dimension and volume were 142 mm and 1268 cc in the FBS group, and 73 mm and 252 cc in the remaining group, respectively. FBS tumors usually reach large sizes. Although the sign is rare in children, there are no scientific reports of its occurrence in the first life decade. Color flow mapping and cross-sectional imaging play a pertinent role in distinguishing this uncommon pattern from a malignant mass and enable the selection of an appropriate surgical approach.

An Ovarian Teratoma Mimicking Complicated Acute Appendicitis: A Case Report and Literature Review.

Acute appendicitis is one of the most common causes of right iliac fossa (RIF) pain in the younger population. However, multiple other pathologies presenting with RIF pain can mimic acute appendicitis. In the female gender, the differentials for RIF pain are broader. Multiple pathologies can present with similar symptomatology that can mimic acute appendicitis, leading to an incorrect diagnosis, unnecessary surgical interventions, and complications. In females of reproductive age, gynaecological causes can present similarly. Here, we present a case of an ovarian teratoma mimicking acute complicated appendicitis. A female of reproductive age presented to our hospital with RIF pain of six days, associated with fever, nausea, vomiting, and anorexia. A clinical diagnosis of acute complicated appendicitis was suspected, and further imaging was arranged to confirm the diagnosis. Imaging showed a normal appendix with a right adnexal mass separated from the ovary, representing a teratoma. She underwent elective surgery for the excision of teratoma after further investigations. Ovarian teratomas are not a common mimicker of appendicitis. One should consider possible gynaecological causes as a differential for RIF pain. Due to the wide variety of differentials, when in doubt, especially in the female gender, further imaging should be considered for confirmation of diagnosis.

A rare case of extremely large mature ovarian cystic teratoma.

Mature ovarian cystic teratoma, also known as the dermoid cyst, is one of the most common benign ovarian neoplasms that can occur in different age groups and could appear in various sizes. Diagnosing this problem as soon as possible is essential due to complications that can coincide, such as torsion, rupture, internal hemorrhage and malignant transformation. In this article, we reported a 66-year-old female patient with a single huge mature ovarian cyst teratoma who presented to the surgical ward with abdominal pain and swelling but did not see any doctor during that period and disregarded her problems for 4 years.