Diffuse infiltrating tumour with the molecular profile of an atypical teratoid rhabdoid tumour (AT/RT SHH-1B) in an adult patient.

We describe a 46-year-old patient with an IDH-wildtype diffusely infiltrating atypical teratoid/rhabdoid tumour (AT/RT), SHH-1B molecular subtype. The unusual histology and subsequent diagnosis in an adult patient will be discussed.

Nongestational ovarian choriocarcinoma with bilateral teratoma: A rare case report and literature review.

INTRODUCTION: Trophoblastic neoplasms are often associated with pregnancy, and nongestational trophoblastic neoplasms are extremely rare. Nongestational ovarian choriocarcinoma (NGCO) is a highly aggressive germ cell-derived tumor frequently presenting with early hematogenous metastasis. PATIENT CONCERNS: Herein, we report a case of a 28-year-old unmarried woman with regular menstruation who experienced vaginal bleeding 1 week after her last menstrual cycle. Doppler ultrasound revealed bilateral adnexal masses and elevated serum human chorionic gonadotropin (hCG) levels. The patient was initially misdiagnosed as presenting an ectopic pregnancy. DIAGNOSIS: The final pathology confirmed an International Federation of Gynecology and Obstetrics stage IA NGCO with bilateral mature teratoma of the ovary. This is an extraordinary instance of ovarian choriocarcinoma which emerged without any prior gestation, and the patient's lack of a history of pregnancy made the diagnosis ignored. INTERVENTIONS: After initial surgery and 1 cycle of bleomycin, etoposide, and cisplatin (BEP) chemotherapy, a laparoscopic fertility-preserving comprehensive staging surgery was performed. Two cycles of chemotherapy with BEP were administered as supplemental therapy postsurgery, and leuprorelin was administered to protect ovarian function. OUTCOMES: Menstruation resumed 4 months after chemotherapy completion, and tumor indicators were within the normal range. No signs of recurrence were observed at the 36-month follow-up. CONCLUSION: NGCO should be considered if a female patient exhibits irregular vaginal bleeding and masses in the adnexal area. The present case and our literature review also highlighted that fertility-sparing surgery and multidrug chemotherapy are effective methods for treating NGCO.

Mature cystic teratoma with co-existent mucinous cystadenocarcinoma: describing a diagnostic challenge-a case report.

BACKGROUND: Mature cystic teratoma co-existing with a mucinous cystadenocarcinoma is a rare tumor that few cases have been reported until now. In these cases, either a benign teratoma is malignantly transformed into adenocarcinoma or a collision tumor is formed between a mature cystic teratoma and a mucinous tumor, which is either primarily originated from epithelial-stromal surface of the ovary, or secondary to a primary gastrointestinal tract tumor. The significance of individualizing the two tumors has a remarkable effect on further therapeutic management. CASE PRESENTATION: In this case, a mature cystic teratoma is co-existed with a mucinous cystadenocarcinoma in the same ovary in a 33-year-old Iranian female. Computed Tomography (CT) Scan with additional contrast of the left ovarian mass suggested a teratoma, whereas examination of resected ovarian mass reported an adenocarcinoma with a cystic teratoma. A dermoid cyst with another multi-septate cystic lesion including mucoid material was revealed in the gross examination of the surgical specimen. Histopathological examination revealed a mature cystic teratoma in association with a well-differentiated mucinous cystadenocarcinoma. The latter showed a CK7-/CK20 + immune profile. Due to the lack of clinical, radiological, and biochemical discoveries attributed to a primary lower gastrointestinal tract tumor, the immune profile proposed the chance of adenocarcinomatous transformation of a benign teratoma. CONCLUSIONS: This case shows the significance of large sampling, precise recording of the gross aspects, histopathological examination, immunohistochemical analysis, and the help of radiological and clinical results to correctly diagnose uncommon tumors.

Role of pre-operative endovascular embolization of a giant sacrococcygeal teratoma in neonate: a case report.

BACKGROUND: Giant sacrococcygeal teratomas (SCTs) are at risk of perinatal morbidity and mortality due to their high vascularity. Pre-operative embolization of the feeding arteries, prior to complete surgical resection, may assist in minimizing the intraoperative blood loss by occluding these feeding arteries. CASE PRESENTATION: We present a case of a highly vascular giant SCT in a neonate, which was successfully embolized through an endovascular approach prior to surgery. The femoral artery approach was chosen, with access established using a Micropuncture introducer as a sheath. Embolization was performed using a combination of microcoils, Gelfoam slurry, and polyvinyl alcohol particles. The patient developed femoral artery spasm post-procedure, which resolved with the application of a glyceryl trinitrate patch. CONCLUSIONS: Performing pre-operative endovascular embolization on a giant sacrococcygeal teratoma presents particular challenges, primarily due to the difficulty in assessing small vessels and the potential complications associated with this procedure. Nevertheless, this technique proves exceptionally valuable in helping the surgeon minimize blood loss during surgery, thereby reducing the risks of morbidity and mortality. Comprehensive planning for the embolization procedure is essential, encompassing the identification of potential vascular access points and alternatives, along with careful selection of the appropriate catheter.

Successful Multimodal Treatment of Intracranial Growing Teratoma Syndrome with Malignant Features.

Molecular analysis of the growing teratoma syndrome has not been extensively studied. Here, we report a 14-year-old boy with a growing mass during treatment for a mixed germ cell tumor of the pineal region. Tumor markers were negative; thus, growing teratoma syndrome was suspected. A radical resection via the occipital transtentorial approach was performed, and histopathological examination revealed a teratoma with malignant features. Methylation classifier analysis confirmed the diagnosis of teratoma, and DMRT1 loss and 12p gain were identified by copy number variation analysis, potentially elucidating the cause of growth and malignant transformation of the teratoma. The patient remains in remission after intense chemoradiation treatment as a high-risk germ cell tumor.

A Machine Learning Model to Predict the Histology of Retroperitoneal Lymph Node Dissection Specimens.

BACKGROUND/AIM: While post-chemotherapy retroperitoneal lymph node dissection (PC-RPLND) benefits patients with teratoma or viable germ cell tumors (GCT), it becomes overtreatment if necrosis is detected in PC-RPLND specimens. Serum microRNA-371a-3p correctly predicts residual viable GCT with 100% sensitivity; however, prediction of residual teratoma in PC-RPLND specimens using current modalities remains difficult. Therefore, we developed a machine learning model using CT imaging and clinical variables to predict the presence of residual teratoma in PC-RPLND specimens. PATIENTS AND METHODS: This study included 58 patients who underwent PC-RPLND between 2005 and 2019 at the University of Tsukuba Hospital. On CT imaging, 155 lymph nodes were identified as regions of interest (ROIs). The ResNet50 algorithm and/or Support Vector Machine (SVM) classification were applied and a nested, 3-fold cross-validation protocol was used to determine classifier accuracy. RESULTS: PC-RPLND specimen analysis revealed 35 patients with necrosis and 23 patients with residual teratoma, while histology of 155 total ROIs showed necrosis in 84 ROIs and teratoma in 71 ROIs. The ResNet50 algorithm, using CT imaging, achieved a diagnostic accuracy of 80.0%, corresponding to a sensitivity of 67.3%, a specificity of 90.5%, and an AUC of 0.84, whereas SVM classification using clinical variables achieved a diagnostic accuracy of 74.8%, corresponding to a sensitivity of 59.0%, a specificity of 88.1%, and an AUC of 0.84. CONCLUSION: Our machine learning models reliably distinguish between necrosis and residual teratoma in clinical PC-RPLND specimens.

Congenital orofacial teratoma in a 22-week foetus.

No abstract available.

Fertility-sparing approach in concurrent gliomatosis peritonei and growing teratoma syndrome in a young woman.

Gliomatosis peritonei (GP) and Growing Teratoma Syndrome (GTS) are rare and clinically significant conditions often associated with ovarian teratomas. GP involves the development of benign glial implants on the peritoneal surface, while GTS is characterised by the growth of benign, yet enlarging peritoneal implants following chemotherapy for malignant germ cell tumours. These implants are typically histologically mature teratomas devoid of malignancy. Our report documents a unique case where both GP and GTS manifested in a patient undergoing treatment for an immature ovarian teratoma. This dual occurrence is scarcely reported in the existing literature. The patient, a nulliparous woman in her 20s, developed a tumour indicative of GTS immediately after completing three cycles of bleomycin, etoposide and cisplatin therapy. This chemotherapy regimen followed fertility-sparing surgery for a stage IIIb ovarian immature teratoma. Given that total tumour resection is pivotal in positively influencing the prognosis of GTS, early minimally invasive surgical intervention before significant tumour growth is essential. This approach is particularly crucial considering that ovarian germ cell tumours are commonly present in younger patients, necessitating a focus on fertility preservation in most cases.

Ruptured Ovarian Cystic Teratoma: A Rare Diagnosis, Easily to Be Confused with Peritoneal Carcinomatosis.

Although ovarian cystic teratoma is the most common ovarian tumor, complications are quite rare. However, it is important to be recognized by the radiologist in order to avoid inaccurately diagnosing them as malignant lesions. This case report describes a 61-year-old postmenopausal woman, who presented to the emergency room with abdominal pain following a minor blunt abdominal trauma. In this context, a CT scan was performed, which showed the presence of round, hypodense masses randomly distributed in the peritoneum, with coexisting ascites in moderate amount; ovarian carcinoma with peritoneal carcinomatosis was suspected. The patient was hospitalized and an MRI of the abdomen and pelvis was recommended for a more detailed lesion characterization. Following this examination, the patient was diagnosed with mature cystic ovarian teratoma complicated by rupture. Surgery was performed, and the outcome was favorable. The cases of ruptured cystic teratomas are rare, and to our knowledge, this is the first occurrence described in literature. Special attention must be paid when confronting with such a case in medical practice, since it can easily misdiagnosed as peritoneal carcinomatosis.

A rare case of tumor-to-tumor metastasis from thymic carcinoma to an ovarian mature teratoma.

Metastasis from one neoplasm to another is referred to as tumor-to-tumor metastasis (TTM). TTM is rarely observed. Here, we present a patient with TTM from a thymic carcinoma to an ovarian mature teratoma. A 25-year-old woman, diagnosed with unresectable thymic carcinoma, presented with a cyst with a solid tumor component in her right ovary. Laparoscopic cystectomy of the right ovary revealed that the solid tumor was a distant metastasis of the thymic carcinoma in an ovarian mature teratoma. The possibility of malignant transformation of the ovarian mature teratoma was ruled out, enabling accurate staging of the thymic carcinoma. This case emphasizes the need for clinicians to consider TTM and the importance of pathological confirmation of TTM when investigating potential distant metastases.

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.

Mature solid teratoma of the uterine cervix: A rare case report and review of the literature.

RATIONALE: Most of the mature teratomas are found in the ovaries. Extragonadal teratomas are extremely rare. To date, there are only a handful of reports of uterine cervical teratomas documented in the English literature. PATIENT CONCERNS: Herein we describe a rare case of a 40-year-old patient who was presented to our hospital for a cervical polypoid mass, which was finally confirmed to be mature solid teratoma in uterine cervix. DIAGNOSES: Histological examination of the polypoid mass was found to consist of ciliated pseudostratified columnar respiratory epithelium, intestinal epithelium and smooth muscle tissue, adipose tissue and mature glial component, epidermis, and skin adnexa. Meanwhile, no history of abortion, dilatation, and curettage was present in this patient, so implantation of fetal tissue was excluded. Therefore, we make a diagnosis of uterine cervical mature teratoma. INTERVENTIONS: Tumorectomy was performed after discovering the cervical polypoid mass. OUTCOMES: The patient had been followed-up for next 3 months after surgery and no recurrence was documented until now. LESSONS: Though teratomas of the uterine cervix are extremely rare, more attention should be paid on this rare but possible tumor for appropriate treatment in these patients.

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.

Prolonged survival after thoracic metastasectomy in patients with nonseminomatous testicular cancer.

INTRODUCTION: Almost 20 % of patients with Non-Seminomatous Germinative Cell Tumors (NSGCT) will require intrathoracic metastasectomy after chemotherapy. The authors aim to determine their long-term survival rates. METHODS: Retrospective study including patients with NSGCT and intrathoracic metastasis after systemic therapy from January 2011 to June 2022. Treatment outcomes and overall survival were analyzed with the Kaplan-Meier method. RESULTS: Thirty-seven male patients were included with a median age of 31.8 years. Six presented with synchronous mediastinum and lung metastasis, nine had only lung, and 22 had mediastinal metastasis. Over half had retroperitoneal lymph node metastasis. Twenty-two had dissimilar pathologies, with a discordance rate of 62 %. Teratoma and embryonal carcinoma were the prevalent primary tumor types, 40.5 % each, while teratoma was predominant (70.3 %) in the metastasis group. Thoracotomy was the main surgical approach (39.2 %) followed by VATS (37.2 %), cervico-sternotomy (9.8 %), sternotomy (5.8 %), and clamshell (3.9 %). Lung resection was performed in 40.5 % of cases. Overall, 10-year survival rates were 94.3 % with no surgical-related mortality. CONCLUSION: Multimodality treatment with systemic therapy followed by radical surgery offers a high cure rate to patients with intrathoracic metastatic testicular germ cell tumors.

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.

Aneuploid embryonic stem cells drive teratoma metastasis.

Aneuploidy, a deviation of the chromosome number from euploidy, is one of the hallmarks of cancer. High levels of aneuploidy are generally correlated with metastasis and poor prognosis in cancer patients. However, the causality of aneuploidy in cancer metastasis remains to be explored. Here we demonstrate that teratomas derived from aneuploid murine embryonic stem cells (ESCs), but not from isogenic diploid ESCs, disseminated to multiple organs, for which no additional copy number variations were required. Notably, no cancer driver gene mutations were identified in any metastases. Aneuploid circulating teratoma cells were successfully isolated from peripheral blood and showed high capacities for migration and organ colonization. Single-cell RNA sequencing of aneuploid primary teratomas and metastases identified a unique cell population with high stemness that was absent in diploid ESCs-derived teratomas. Further investigation revealed that aneuploid cells displayed decreased proteasome activity and overactivated endoplasmic reticulum (ER) stress during differentiation, thereby restricting the degradation of proteins produced from extra chromosomes in the ESC state and causing differentiation deficiencies. Noticeably, both proteasome activator Oleuropein and ER stress inhibitor 4-PBA can effectively inhibit aneuploid teratoma metastasis.

[Surgery for mediastinal teratoma containing pancreatic tissue]. / Khirurgiya teratomy sredosteniya, soderzhashchei tkan' podzheludochnoi zhelezy.

Surgery for mediastinal tumors is still one of the most difficult in modern medicine. This is due to vital organs and various nature of tumors in this area. Teratomas are relatively rare among mediastinal tumors. However, they have certain features that is important for treatment strategy and management of possible complications. This can complicate diagnostic algorithm, exclude transthoracic biopsy and contribute to active surgical approach even for benign process. Oncogenesis of teratoma has its own characteristics. Tissues of different organs are always present in this tumor. Among these, pancreatic tissue inclusions are rare. A few data in the world literature on the treatment of such patients do not allow to develop a universally accepted algorithm of diagnosis and treatment. The authors present two patients with mediastinal teratoma. The second patient had teratoma with pancreatic tissue. The authors discuss the diagnostic algorithm for similar cases. A special attention is paid to description of possible complications throughout long-term follow-up period. Surgical aspects including the choice of access and local spread of process (adhesions in the area of surgical interest) are considered. The report on the treatment of two patients with rare mediastinal tumors containing pancreatic tissue will be useful for primary care physicians, thoracic surgeons, oncologists and morphologists.

Decoding the universal human chromatin landscape through teratoma-based profiling.

Teratoma formation is key for evaluating differentiation of human pluripotent stem cells into embryonic germ layers and serves as a model for understanding stem cell differentiation and developmental processes. Its potential for insights into epigenome and transcriptome profiling is significant. This study integrates the analysis of the epigenome and transcriptome of hESC-generated teratomas, comparing transcriptomes between hESCs and teratomas. It employs cell type-specific expression patterns from single-cell data to deconvolve RNA-Seq data and identify cell types within teratomas. Our results provide a catalog of activating and repressive histone modifications, while also elucidating distinctive features of chromatin states. Construction of an epigenetic signature matrix enabled the quantification of diverse cell populations in teratomas and enhanced the ability to unravel the epigenetic landscape in heterogeneous tissue contexts. This study also includes a single cell multiome atlas of expression (scRNA-Seq) and chromatin accessibility (scATAC-Seq) of human teratomas, further revealing the complexity of these tissues. A histology-based digital staining tool further complemented the annotation of cell types in teratomas, enhancing our understanding of their cellular composition. This research is a valuable resource for examining teratoma epigenomic and transcriptomic landscapes and serves as a model for epigenetic data comparison.