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.

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.

Spatial genomic diversity associated with APOBEC mutagenesis in squamous cell carcinoma arising from ovarian teratoma.

Although the gross and microscopic features of squamous cell carcinoma arising from ovarian mature cystic teratoma (MCT-SCC) vary from case to case, the spatial spreading of genomic alterations within the tumor remains unclear. To clarify the spatial genomic diversity in MCT-SCCs, we performed whole-exome sequencing by collecting 16 samples from histologically different parts of two MCT-SCCs. Both cases showed histological diversity within the tumors (case 1: nonkeratinizing and keratinizing SCC and case 2: nonkeratinizing SCC and anaplastic carcinoma) and had different somatic mutation profiles by histological findings. Mutation signature analysis revealed a significantly enriched apolipoprotein B mRNA editing enzyme catalytic subunit (APOBEC) signature at all sites. Intriguingly, the spread of genomic alterations within the tumor and the clonal evolution patterns from nonmalignant epithelium to cancer sites differed between cases. TP53 mutation and copy number alterations were widespread at all sites, including the nonmalignant epithelium, in case 1. Keratinizing and nonkeratinizing SCCs were differentiated by the occurrence of unique somatic mutations from a common ancestral clone. In contrast, the nonmalignant epithelium showed almost no somatic mutations in case 2. TP53 mutation and the copy number alteration similarities were observed only in nonkeratinizing SCC samples. Nonkeratinizing SCC and anaplastic carcinoma shared almost no somatic mutations, suggesting that each locally and independently arose in the MCT. We demonstrated that two MCT-SCCs with different histologic findings were highly heterogeneous tumors with clearly different clones associated with APOBEC-mediated mutagenesis, suggesting the importance of evaluating intratumor histological and genetic heterogeneity among multiple sites of MCT-SCC.

Preoperative clinical characteristics for differentiating malignant transformation from torsion of mature cystic teratoma.

This retrospective study was conducted in 27 patients with malignant transformation of mature cystic teratoma（MT-MCT）and 125 ovarian teratoma patients with torsion who underwent surgery in the First Affiliated Hospital of Wenzhou Medical University from 2008 to 2019. The incidence of MT-MCT in this study was 0.79%. The 3-year overall survival (OS) rate was 69.6 ± 9.6%. The 3-year progression-free survival (PFS) rate was 58.3 ± 9.6%. Kaplan-Meier survival analysis indicated that patients with squamous cell carcinoma (SCC) had significantly shorter OS compared with non-SCC patients. Older age (OR 1.076, 95% CI 1.041-1.111), higher platelet (PLT) level (OR 1.012, 95% CI 1.005-1.020) and lower neutrophil-to-lymphocyte ratio (NLR) level (OR 0.794, 95% CI 0.647-0.915) were independent predictors of MT-MCT. The area under the curve (AUC) for the combined use of age, PLT count and NLR was 0.921 (95% confidence interval 0.877-0.964; p < 0.001), with a sensitivity of 92.6% and a specificity of 80.8%.

Primary retroperitoneal teratoma in a young woman: a case report.

Teratomas are usually seen in gonads but they do occur in other extra gonadal regions such as sacrococcygeal region, mediastinum, head and neck, and retroperitoneum. Rarely in the retroperitoneal area, such tumours mostly develop in the pararenal area and usually on the left side. They have bimodal presentation at the age of six months and then in early adulthood. They originate from the germ cells that have failed to migrate to normal anatomical destinations. Many of such patients are diagnosed incidentally. Here, we report a case of symptomatic primary retroperitoneal mature teratoma in a young lady managed at Pakistan kidney and Liver Institute, Lahore.

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.

Imaging in gynecological disease (24): clinical and ultrasound characteristics of ovarian mature cystic teratomas.

OBJECTIVE: To describe the clinical and ultrasound features of ovarian mature cystic teratomas (MCTs). METHODS: This was a retrospective study. From the International Ovarian Tumor Analysis (IOTA) database, we identified patients with a histologically confirmed diagnosis of MCT who had undergone transvaginal ultrasound examination between 1999 and 2016 (IOTA phases 1, 2, 3 and 5) in one of five centers. Ultrasound was performed by an experienced examiner who used the standardized IOTA examination technique and terminology. In addition to extracting data from the IOTA database, available two-dimensional grayscale and color or power Doppler images were reviewed retrospectively to identify typical ultrasound features of MCT described previously and detect possible new features using pattern recognition. All images were reviewed by two independent examiners and further discussed with two ultrasound experts to reach consensus. RESULTS: Included in the study were 454 patients with histologically confirmed MCT. Median age was 33 (range, 8-90) years and 66 (14.5%) patients were postmenopausal. Most MCTs were described by the original ultrasound examiner as unilocular (262/454 (57.7%)) or multilocular (70/454 (15.4%)) cysts with mixed echogenicity of cystic fluid (368/454 (81.1%)), acoustic shadowing (328/454 (72.2%)) and no or little vascularization on color Doppler (color score 1, 240/454 (52.9%); color score 2, 123/454 (27.1%)). The median largest lesion diameter was 66 (range, 15-310) mm. A correct preoperative diagnosis of MCT was suggested by the original ultrasound examiner in 372/454 (81.9%) cases. On retrospective review of ultrasound images of 334 MCTs that had quality sufficient for assessment, 'dots and/or lines' and/or 'echogenic white ball' (typical features according to the literature) were present in 271/334 (81.1%) masses. We identified four new ultrasound features characteristic of MCT: 'cotton wool tufts', 'mushroom cap sign', 'completely hyperechogenic lesion' and 'starry sky sign'. At least one classical or novel ultrasound feature was present in 315/334 (94.3%) MCTs. Twenty-nine (8.7%) MCTs manifested vascularized solid tissue, of which seven exhibited no typical features. CONCLUSION: We provide a comprehensive overview of conventional and newly described ultrasound features of MCTs. Only a small proportion of MCTs did not manifest any of the typical features. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Primary ovarian carcinoid arising in associated mature cystic teratoma.

BACKGROUND: Primary ovarian carcinoid is a very rare ovarian low-grade neuroendocrine tumor, accounting for about 0.1% of all ovarian neoplasms. CASE PRESENTATION: We reported a case of primary ovarian carcinoid arising from a mature cystic teratoma in a 50-year-old woman. Intraoperative frozen section of left ovarian mass was assessed and a malignant epithelial tumor was considered. Morphologically, the main tumor was composed of cells forming trabeculae, and mature cystic teratoma was observed adjacent to the main part. Immunohistochemistry revealed that the trabecular cells were diffuse positive for pan Cytokeratin, CD56 and synaptophysin with low Ki-67 index (about 1%). CONCLUSIONS: Careful morphological observation combined with appropriate accessory examination are essential for the diagnosis of primary ovarian carcinoid arising from mature cystic teratoma. In addition, the classification criteria of the primary ovarian neuroendocrine tumor are discussed.

Malignant transformation of mature cystic teratoma of the ovary.

Mature cystic teratoma is the most common ovarian germ cell neoplasm. Malignant transformation is a rare occurrence, accounting for 1.5%-2% of cases. Malignant changes can arise from any constituent tissue of a teratoma; however, squamous cell carcinoma is the most common histologic type seen, followed by adenocarcinoma and sarcoma respectively. Tumor marker concentration levels, age, and the tumor maximum diameter are predictive indicators for malignant transformation. Proper diagnosis includes recognizing the possibility of malignant transformation versus excluding other differential options, such as metastasis. Primary cytoreductive surgery, adjuvant chemotherapy, and radiotherapy are the current treatment methods. The aim of the review is to discuss the clinical and pathologic features of malignant transformation within mature cystic teratomas, while reviewing the reported malignant types, differential diagnoses, and treatment options. Data sources include review of pertinent peer-reviewed literature on malignant transformation of mature cystic teratoma and cases seen in authors' institutional practice. Mature cystic teratomas are a commonly encountered benign ovarian tumor. However, the possibility of malignant transformation should remain in consideration, especially with given clinical or pathologic features: increased patient age, tumor size, or tumor marker levels. Thorough sampling of solid tumor foci can help identify malignant components. Awareness and proper diagnosis, along with early detection and clinical management, shows improved patient outcomes.

The evolution of mature cystic teratomas of the ovary into squamous cell carcinoma: two case reports and review of the literature.

Mature Cystic Teratomas (MCT) of the ovary or Dermoid Cysts are common benign tumours found in 10-20% of women. However, 0.2-2% of those cysts underwent malignant transformation. Squamous Cell Carcinoma (SCC) is the most frequent histological type reported in the literature.As 2021, there are limited reports of malignant tumours arising from MCT with no guidelines related to the management of these atypical cases. Herein, we describe two cases of MCT that evolved into SCC with different stages and prognosis and we review the current literature to date highlighting the potential risk of malignant transformation of these considered benign cysts and the need for strong evidence protocols for staging and treatment of this atypical entity.IMPACT STATEMENTWhat is already known on this subject? Mature Cystic Teratomas are found in 10-20% of women. However, a malignant behavior is observed in 2% of cases.What do the results of this study add? Our paper will describe two cases of malignant transformation of dermoid cyst in an effort to highlight the possible malignant risk of this entity and the need for specific management guidelines.What are the implications of these findings for clinical practice and/or further research? The prognosis of this converted cyst is very poor. By elaborating a standard management protocol for this tumour and operating every large cyst (>10 cm) in postmenopausal women, we may prevent this event.

High-Grade Endometrioid Stromal Sarcoma of the Ovary: Malignant Transformation of Ovarian Mature Cystic Teratoma.

We report an extremely rare case of ovarian high-grade endometrioid stromal sarcoma arising from a mature cystic teratoma with clinicopathologic features, and then we briefly review the pertinent literature. A 62-year-old nulliparous woman presented with lower abdominal pain that had begun 6 months earlier. Magnetic resonance imaging showed two adnexal masses with fat components, which suggested that they were mature cystic teratomas. The eccentric thick rim of the left mass showed irregular invasion of the uterus, which was suggestive of malignancy. Positron emission tomography/computed tomography demonstrated high fluorodeoxyglucose uptake in the corresponding area. The patient underwent debulking cytoreductive surgery. The diagnosis was of an International Federation of Obstetrics and Gynecology stage IIIC high-grade endometrioid stromal sarcoma arising from a mature cystic teratoma. After surgery, the patient received adjuvant chemotherapy with three courses of doxorubicin regimen. The cancer recurred 3 months after surgery, and the patient died of progressive disease. It might be helpful for clinicians to be aware of this rare disease and the poor prognosis when it is at an advanced stage.

Establishment of a patient-derived xenograft model and cell line of malignant transformation of mature cystic teratoma of the ovary.

AIM: Malignant transformation of mature cystic teratoma (MTMCT) of the ovary is a rare gynecological malignancy and commonly arises in women older than 50 years of age. The most common histological type of MTMCT is squamous cell carcinoma (SCC), and the prognosis is extremely poor. Patient-derived xenograft (PDX) models are promising animal models for preclinical drug screening. Here, we report the generation of a new PDX model of MTMCT, and a new cell line established from the tumors of PDX model animals. METHODS: Tumor tissue was obtained from a 32-year-old patient with MTMCT. To generate PDX, NSG (NOD.Cg-Prkdcscid Il2rgtm1Wjl /SzJ) mice, a strain of super-immunodeficient mice, were used. Tumor-bearing mice were sacrificed, followed by the collection of these tumors and re-transplantation into new NSG mice (in vivo passage). Tumor samples were also cultured in vitro. Adherent cells were continuously cultured and passaged, a cell line was established. RESULTS: In the primary PDX mouse, tumor engraftment was confirmed 30 days after tumor implantation. After three times in vivo passage, we confirmed that the cryopreserved tumors could be engrafted even when transplanted into BALB/c nude mice. Using the tumor tissue at the time of the first in vivo passage, a new cell line NOSCC1 was established. PDX tumors and cell-line derived xenograft tumors exhibited similar morphology of SCC. CONCLUSION: We established a new PDX model of MTMCT and a new cell line of it, which may be important tools for the development of new therapies and the elucidation of the carcinogenic mechanisms of MTMCT.

Incidental finding of an adult intracardiac teratoma.

We reported an exceedingly rare adult case of intracardiac teratoma with a bicuspid aortic valve. A small mass was discovered in the right ventricle of a 37-year-old man by accident after he was referred to our hospital due to chronic chest distress and aggravated palpitation. We performed a surgical exploration with excision of the lesion after a repeat transthoracic echocardiography suggested a space-occupying lesion in the interventricular septum. A mature cystic teratoma was pathologically confirmed. During the half-year follow-up, no symptoms were reported. This case constitutes the first report of the smallest primary intracardiac teratoma in an adult with a bicuspid aortic valve.

Mature cystic teratoma of the right cerebellopontine angle: a rare case report.

BACKGROUND AND IMPORTANCE: Intracranial mature cystic teratomas are benign neoplasms that commonly occur at the midline. Mature cystic teratomas at the cerebellopontine (CP) angle are very rare. They are unique germ cell tumours curable by safe total surgical resection and have good prognosis. This case report documents the clinical, radiological, histological features and operative findings of mature cystic teratoma at CP angle. CLINICAL PRESENTATION: We present a rare case of a mature cystic teratoma at the CP angle in a 24-year-old woman who presented with brainstem compression and cranial nerve deficits. Brain MRI showed atypical findings like hyperintense areas in both T1 and T2 weighted images, calcification and diffusion restriction in part of the lesion. She underwent near total resection of the tumour via right retrosigmoid approach. Intraoperatively, the lesion was intra-arachnoidal unlike schwannomas and the cyst contained sebum-like material, fibrous areas with calcification which are unusual features of common CP angle tumours. Histopathological examination showed well differentiated mature tissues from all three germinal layers and confirmed the diagnosis of a mature cystic teratoma arising from the right CP angle. Patient had good outcome with neurologic recovery. CONCLUSIONS: Mature cystic teratoma is a rare clinical entity and should be considered in patients with CP angle tumours when there are atypical findings in brain MRI imaging. Cysts with sebum-like material, fibrous areas with calcification and poor tumour-arachnoid plane intraoperatively strongly suggest the possibility of mature cystic teratoma.

Genetic Profiling of Malignant Melanoma Arising from an Ovarian Mature Cystic Teratoma: A Case Report.

Ovarian mature cystic teratomas comprise tissues derived from all three germ layers. In rare cases, malignant tumors arise from ovarian mature cystic teratoma. A variety of tumors can arise from mature cystic teratoma, among which primary malignant melanoma (MM), for which no molecular analyses such as genomic sequencing have been reported to date, is exceedingly rare, thereby limiting possible therapeutic options using precision medicine. We used targeted gene sequencing to analyze the status of 160 cancer-related genes in a patient with MM arising from an ovarian mature cystic teratoma (MM-MCT). KRAS amplification and homozygous deletion in PTEN and RB1 were detected in tumor samples collected from the patient. No KRAS amplification has been previously reported in cutaneous MM, indicating that the carcinogenesis of MM-MCT differs from that of primary cutaneous melanomas. A better understanding of the underlying genetic mechanisms will help clarify the carcinogenesis of MM-MCT. In turn, this will enable treatment with novel targeting agents as well as the initial exploration of gene-based precision oncological therapies, which aim to improve treatment outcomes for patients with this disease.

Elevated aspartate aminotransferase and alanine aminotransferase in the torsion of ovarian mature cystic teratoma: normalised after operation for torsion.

The aim of the study was to report the elevated liver function test levels in torsion of ovarian mature cystic teratoma (MCT). A retrospective review was performed of 116 patients with MCT who underwent surgery in our hospital between 2010 and 2017. Eleven of 116 patients were with torsion of MCT. Of the 11 torsion of MCT cases, 6 of those showed abnormal elevated levels of aspartate transaminase (AST)/alanine aminotransferase (ALT). After operation, AST/ALT levels recovered to normal ranges. Elevated liver function levels require attention to complications associated with anaesthesia and emergency operation. However, the current report shows that emergency surgery should not be delayed to assess other causes of elevated liver function tests.Impact statementWhat is already known on this subject? Abnormal liver function tests require attention to complications associated with emergency surgery.What do the results of this study add: Our study shows that some patients with torsion of MCT returned to normal levels of AST/ALT after surgery without any medications to improve liver function.What are the implications of these findings for clinical practice and/or further research? This study would offer that in some cases with torsion of MCT, emergency surgery should not be delayed and the assessment of other possible causes of these elevations postponed to postoperative period. Additional studies are required to assess the correlation between elevated AST/ALT levels and torsion of MCT.

Squamous cell carcinoma transformation in mature cystic teratoma of the ovary: a systematic review.

BACKGROUND: 0.17-2% of mature cystic teratoma of the ovary (MCTO) undergo malignant transformation, of which 80% are squamous cell carcinoma (SCC) transformation in MCTO. We aim to investigate the clinical characteristics and treatment of SCC transformation in MCTO METHODS: We systematically searched PubMed database and individual patient data about SCC transformation in MCTO were extracted. The published cases were combined with 6 cases of SCC transformation in MCTO from Qilu Hospital, Shandong University. RESULTS: The incidence of SCC transformation in MCTO was 0.3%. A total of 435 cases of SCC transformation in MCTO were enrolled in the analysis. The mean age of diagnosis was 53.5 (range 19-87) years old. The most common clinical manifestations were abdominal pain (47.3%) and abdominal mass (26.0%). StageI,II, III and IV accounted for 50.0, 18.8, 26.8 and 4.4% of all cases, respectively. Patients with stage I had significantly better prognosis than stage II, III and IV patients (P < 0.01). Hysterectomy can improve overall survival (P < 0.01). For patients younger than 45 years old with stageIA orIC, there was no difference in mortality between fertility-sparing and radical surgery (P = 1.00). Adjuvant chemotherapy can improve survival in patients with advanced stage (P = 0.02), and chemotherapy with platinum was related to better prognosis (P = 0.02). CONCLUSION: SCC transformation in MCTO is a rare malignancy mainly occurs in older age. FIGO stage is an independent prognostic factor. Hysterectomy and platinum-based chemotherapy are associated with better survival. Fertility-sparing surgery is feasible for young patients with early stage.

Management options for a patient with squamous cell carcinoma arising in a mature cystic teratoma of the ovary.

OBJECTIVE: Mature cystic teratomas, also referred to as dermoid cysts, are one of the commonly occurring ovarian germ cell tumors. Malignant transformation of a germ cell tumor occurs approximately 1-2% of the time. Treatment options vary by stage and are not well outlined in the literature. Here we report a case of a perimenopausal female who presented with increasing abdominal girth and an elevated CA-125. Final pathology revealed an invasive squamous cell carcinoma, moderately to poorly differentiated, multifocal, arising in a cyst on the left ovary, possibly a teratoma. At the time of diagnosis, the patient was FIGO stage IA. The decision was made against adjuvant treatment. Squamous cell carcinoma arising in a mature cystic teratoma of the ovary is rare. Treatment options are not well outlined in the literature, especially for disease less than stage II. Further research is needed to better inform the clinician on management recommendations.

Primary malignant melanoma arising from ruptured ovarian mature cystic teratoma with elevated serum CA 19-9: a case report and review of literature.

BACKGROUND: Ovarian mature cystic teratomas comprise tissues derived from all three germ layers. In rare incidences, malignant tumors may arise from ovarian mature cystic teratoma, which occurs in 0.2-1.8% of cases. A variety of tumors can arise within mature cystic teratoma, among which malignant melanoma is exceedingly rare. CASE PRESENTATION: A 42-year-old woman presented with abdominal pain. Transvaginal ultrasonography showed mixed echogenic cystic masses in both ovaries. Her serum cancer antigen (CA19-9) level was elevated at 29,770 U/ml. Surgical excision was performed. Histologic examination showed infiltrating nests of pleomorphic cells with prominent nucleoli and black pigments in the background of a mature cystic teratoma. These pleomorphic cells showed strong immunoreactivity for Melan-A and HMB-45. The patient was re-evaluated and the possibility of a melanoma at any other site was ruled out. Based on these findings, we concluded that the malignant melanoma originated from the ovarian mature cystic teratoma. CONCLUSION: We report a rare case of primary malignant melanoma derived from an ovarian mature cystic teratoma.

A case of ovarian teratoma with nephroblastoma presenting spontaneous rupture.

Nephroblastoma (also known as Wilms' tumor) mainly occurs in the kidneys of children. Nephroblastoma outside the kidneys may be observed in three situations: primary disease, metastatic disease and nephroblastoma arising in teratoma. Teratoma with nephroblastoma (TWN) of the adult ovary is a rare tumor and only one case has been reported. We report an unusual adult case of ovarian TWN presented to us with acute abdomen due to the spontaneous rupture of the ovary. The rupture occurred at the site of TWN, while contralateral ovary with only mature cystic teratoma component had no rupture. After one and a half months of the ovary sparing surgery, the tumor disseminated to the splenic hilum and the omentum. A complete staging with maximum cytoreduction followed by adjuvant chemotherapy were performed. She remains disease free until present.