Nasal immature teratoma in an elderly patient: Clinicopathological and epigenetic analogies with central nervous system counterparts, alongside genomic divergences.

Germ cell tumors (GCTs) are categorized as gonadal or extra-gonadal, based on the origin. Extra-gonadal GCTs predominantly manifest within the central nervous system (CNS), mediastinum, retroperitoneum, and sacrococcygeal region. These malignancies are most frequently diagnosed in the pediatric, adolescent, and young adult demographics. Incidences of GCT within the nasal cavity are notably scarce, with only six cases documented. This report details the case of a 70-year-old man who presented with a left nasal mass ultimately diagnosed as immature teratoma. A remarkable aspect of this case was the detection of SMARCA4 (BRG1) loss through immunohistochemical analysis. In addition, methylation profiling aligned this case with CNS GCTs, specifically those classified as non-germinomatous GCTs. This molecular characterization informed a tailored therapeutic strategy incorporating carboplatin and etoposide, alongside localized irradiation. This individualized treatment regimen achieved favorable outcomes, with the patient remaining recurrence free for over three years. This highlights the need for precise therapeutic approaches in the management of extragonadal GCTs, particularly those arising in atypical anatomical locations. The present case accentuates the significance of thorough diagnostic evaluations and customized treatment plans for rare GCT presentations. Further empirical and clinical investigations are warranted to enhance our understanding of and refine therapeutic protocols for such exceptional cases.

A fetus with a mass in the oral cavity: A rare case of large oral immature teratoma.

Oral teratoma is a congenital neoplastic lesion with an incidence of 2%-9% of all teratomas. It comprises variable amounts of all three germ cell layers. The lesion is graded on histology depending upon the presence of immature components. The most common sites of presentation are the sacrococcygeal area and head and neck with slight female predominance. Our report is based on a case that was received for histopathological evaluation. It consisted of a 20-week fetus with a huge mass protruding from oral orifice measuring 10.8 × 6.7 cm. Histological examination of the tumor revealed immature teratoma-oropharynx.

A Rare Case of Retroperitoneal Immature Teratoma in a Young Adult Male: A Case Report From Eastern Morocco.

Teratomas are classified as germ-cell tumors. They occur more frequently in the gonads, but extragonadal localization can also occur. Retroperitoneal teratomas are rare and require multidisciplinary management. We report the case of a 20-year-old patient who presented with an immature retroperitoneal teratoma. The patient initially underwent a retroperitoneal mass resection, which resulted in positive resection margins and a residual mass observed in post-operative imaging, necessitating treatment with platinum-based chemotherapy. The purpose of this publication is to highlight the characteristics of retroperitoneal teratoma, along with diagnostic criteria and treatment approaches.

Growing teratoma syndrome: diagnostic challenges and outcomes.

PURPOSE: The aim of this case report is to emphasize the significance of the growing teratoma syndrome. Growing teratoma syndrome is frequently misdiagnosed due to its low prevalence, with an estimated incidence of 19% among all immature ovarian teratomas and a lack of experience among healthcare professionals. It is characterized by the growth of benign tumoral tissue during or after chemotherapy for malignant germ cell tumors. CASE REPORT: Our case is about a 46-year-old patient diagnosed with an immature teratoma who was treated unsuccessfully with surgery and chemotherapy. The patient was then referred to our hospital for a second opinion, where this unknown entity was diagnosed and underwent complete surgical debulking, including abdominal wall resection and subsequent repair. CONCLUSION: Physicians need to be aware of rapidly growing masses during or after chemotherapy because early recognition of this syndrome is essential for the adequate treatment of our patients.

Management strategy for children with ovarian immature teratoma: results from a tertiary pediatric oncology center.

OBJECTIVES: We present an Egyptian study on pediatric ovarian immature teratomas (ITs), aiming to clarify our treatment strategy selection. METHODS: A retrospective review of all children with pure ovarian ITs who were treated at our institution between 2008 and 2023. The analysis included clinical characteristics, tumor staging according to Children's Oncology Group (COG), grading based on the Norris system, management, and outcomes. RESULTS: Thirty-two patients were included, with a median age of 9 years. All patients underwent primary surgery. Unilateral salpingo-oophorectomy was performed in 31 patients. Surgical staging was completed in all patients. Based on COG staging, there were 28 patients (87.5%) stage I, 1 (3%) stage II, and 3 (9.5%) stage III. According to Norris classification, 16 patients (50%) were classified as grade I, 9 (28%) grade II, and 7 (22%) grade III. All patients in stage I were treated using surgery-alone approach, whereas the remaining four (12.5%) received adjuvant chemotherapy. Five patients in stage I had gliomatosis peritonei (GP), and none of them underwent extensive surgery. At a median follow-up of 86 months, two patients had events. The first patient (stage III/grade I) developed IT relapse on the operative bed, and the second (stage I/grade I) had a metachronous IT on the contralateral ovary. Both patients were successfully managed with surgery followed by second-line chemotherapy. Five-year overall survival and event-free survival for all patients were 100% and 93.4%, respectively. CONCLUSIONS: Surgery-alone strategy with close follow-up achieves excellent outcomes for localized ovarian ITs in children, irrespective of the Norris grading or the presence of GP. However, adjuvant chemotherapy is questionable for patients with incompletely resected or locally advanced tumors, and its role requires further evaluation through prospective multicentric studies with a larger sample size.

Growing teratoma syndrome of the ovary: a case report and literature review.

Growing teratoma syndrome (GTS) is a rare condition that arises secondary to malignant germ cell tumors. It is characterized by an enlarging abdominal mass during or after chemotherapy, normal tumor markers, and histopathological indications of mature teratoma components. Awareness of GTS is limited, and it is often mistaken for disease progression or recurrence. This misdiagnosis can lead to delayed treatment and increased risk of complications. Therefore, early identification of GTS is crucial to avoid unnecessary systemic treatments and reduce financial burden. GTS is unresponsive to chemotherapy or radiotherapy and complete surgical resection is the sole therapeutic strategy. In this report, we present a case of GTS in a 20-year-old female following treatment for immature teratoma, alongside a review of the relevant literature aimed at enriching our insight into the clinical manifestations of GTS.

Teratoma to Angiosarcoma: A Metamorphosis in the Mediastinum.

We describe a rare and remarkable transformation of an immature mediastinal teratoma into high-grade angiosarcoma in a 21-year-old male. Mediastinal teratomas, particularly immature ones, are exceedingly rare, representing a small fraction of germ cell tumors (GCTs). Our case describes the clinical journey of the patient, who initially presented with acute chest pain and was subsequently diagnosed with an immature teratoma following imaging studies and elevated tumor markers. Despite an initial positive response to cisplatin-based chemotherapy, surveillance imaging revealed liver masses, which a biopsy confirmed as angiosarcoma. This transformation underscores the aggressive nature of immature teratomas and the propensity for sarcomatous differentiation, particularly in the mediastinum. The case contributes valuable insight into the management and surveillance of mediastinal non-seminoma germ cell tumors (MNGCT), a subset of GCTs with limited literature. We believe this case is the first in the literature to describe a transformation from an immature teratoma in the mediastinum to a high-grade angiosarcoma.

Large ovarian mature teratoma with gliomatosis peritonei in a young female: A case report.

Gliomatosis peritonei is an extremely rare condition usually associated with either immature teratoma or, less commonly, mature teratoma. We present a case of a young female with long-standing progressive abdominal distension, who was diagnosed with mature ovarian teratoma with gliomatosis peritonei and gross ascites. The final diagnosis in this case was determined through the correlation of imaging, operative, and histopathological findings. The presence of enhancing peritoneal nodules usually leads to a suspicion of peritoneal carcinomatosis or abdominal tuberculosis, especially in endemic regions; however, gliomatosis peritonei should always be considered in the differential diagnosis, particularly when associated with teratomas. Radiological findings combined with histopathological reports are valuable in reaching the final diagnosis in these cases.

Congenital orbital teratoma: a rare case with intracranial extension.

INTRODUCTION: Teratoma is the most common congenital tumor, but the orbital location is rare. It is composed of tissues from ectoderm, mesoderm, and endoderm. CLINICAL PRESENTATION: Congenital orbital teratoma commonly presents as unilateral proptosis, with rapid growth, leading to exposure keratopathy. DIAGNOSIS: Prenatal ultrasound may detect the orbital mass, computed tomography (CT) scans, and magnetic resonance (MR) imaging are better in demonstrating multilocular cystic and solid mass, without bone erosion. Laboratory tests should include alfa-fetoprotein (AFP) and B-human chorionic gonadotropin (B-HCG), and histopathologically, it contains all three germ cell layers components. The management is surgical removal of the lesion, the mature teratoma has a benign behavior, and the immature has a poor prognostic. We describe a rare case of congenital orbital teratoma with intracranial extension of the lesion, in which was treated with orbital exenteration. After surgery, AFP levels decreased, the middle face displacement has improved and development milestones were appropriate.

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.

Synchronous small cell neuroendocrine carcinoma of the cervix and immature ovarian teratoma: A case report and literature review.

The onset of two synchronous primary malignancies of the female genital tract is uncommon; therefore, the simultaneous occurrence of cervical small cell neuroendocrine carcinoma and ovarian immature teratoma is rare. The present study describes the case of a woman with cervical small cell neuroendocrine carcinoma complicated by ovarian immature teratoma. The clinical manifestations, and the histopathological and immunophenotypic features of the patient are recorded. Furthermore, all PubMed-indexed cases of synchronous primary malignancies in both the cervix and ovary have been briefly summarized.

Diagnostic utility of Magnetic Resonance Imaging in discriminating immature teratoma: Insights from a case series.

Immature teratomas (IT) are rare germ cell tumors with malignant behavior, distinct from the benign mature teratomas. Clinical differentiation poses challenges, demanding a comprehensive, multidisciplinary diagnostic approach. This case series delves into the detailed radiological imaging findings of ITs. Pelvic MRI was conducted on five cases with adnexal masses, all of which were histopathologically confirmed as ITs. Radiologically, larger tumor size and scattered fatty components were key diagnostic indicators. This study underlines the importance of comprehensive evaluation in IT diagnosis and management, with MRI as an essential tool in the clinical workflow.

A rare germline BMP15 missense mutation causes hereditary ovarian immature teratoma in human.

Ovarian immature teratomas (OITs) are malignant tumors originating from the ovarian germ cells that mainly occur during the first 30 y of a female's life. Early age of onset strongly suggests the presence of susceptibility gene mutations for the disease yet to be discovered. Whole exon sequencing was used to screen pathogenic mutations from pedigrees with OITs. A rare missense germline mutation (C262T) in the first exon of the BMP15 gene was identified. In silico calculation suggested that the mutation could impair the formation of mature peptides. In vitro experiments on cell lines confirmed that the mutation caused an 84.7% reduction in the secretion of mature BMP15. Clinical samples from OIT patients also showed a similar pattern of decrease in the BMP15 expression. In the transgenic mouse model, the spontaneous parthenogenetic activation significantly increased in oocytes carrying the T allele. Remarkably, a mouse carrying the T allele developed the phenotype of OIT. Oocyte-specific RNA sequencing revealed that abnormal activation of the H-Ras/MAPK pathway might contribute to the development of OIT. BMP15 was identified as a pathogenic gene for OIT which improved our understanding of the etiology of OIT and provided a potential biomarker for genetic screening of this disorder.

A Report of a Rare Case of Rapidly Progressing Immature Teratoma With Associated Splenic Metastasis and Gliomatosis Peritonei.

Gliomatosis peritonei (GP) is a rare condition of mature glial tissue within the peritoneum often associated with immature teratomas. This was a case of rapid progression of immature teratoma with splenic lesions and associated GP. The patient was a 21-year-old female who presented with abdominal pain and CT imaging showing suspected malignant teratoma. The patient underwent exploratory laparotomy with fertility-sparing debulking surgery and was diagnosed with stage IIIC grade 3 immature teratoma. She then received adjuvant chemotherapy with bleomycin, etoposide, and cisplatin. Surveillance imaging demonstrated a non-avid splenic lesion. The tumor markers remained normal. She underwent robotic splenectomy and partial peritonectomy with intra-operative findings revealing numerous peritoneal nodules. Follow-up surveillance imaging showed no further lesions. The final histopathology examination demonstrated mature and mesenchymal neural tissue consistent with residual teratoma and no immature elements. The specimens were largely composed of nodules of mature glial tissue and focal areas of mature neuronal tissue. Immunohistochemistry demonstrated glial fibrillary acidic protein (GFAP) and S100 expression, confirming neural origin tissue. Octamer-binding transcription factor 4 (OCT-4) immunostain was negative which confirmed the absence of immature neural tissue. We report a rare case of rapid progression of immature teratoma with splenic metastasis and peritoneal nodules found ultimately to be mature teratoma and associated GP. Recognition of rapidly growing teratoma with new lesions as potential GP is imperative to prevent misdiagnosis as recurrence or progression of disease. This case was treated with secondary debulking surgery which should be a consideration of management if surgically feasible.

Consensus and controversy in the management of paediatric and adult patients with ovarian immature teratoma: the Malignant Germ Cell International Consortium perspective.

Ovarian immature teratoma (IT) is a rare neoplasm comprising ∼3% of ovarian cancers, occurring primarily in young females. Management presents several challenges, including those with elevated serum alpha-fetoprotein, potential confusion regarding pathology interpretation, and paucity of data to support decision-making. MaGIC (https://magicconsortium.com/) is an interdisciplinary international consortium of GCT experts from multiple subspecialties, with members receiving frequent queries regarding IT patient management. With evidence from published literature where available, we summarise consensus management of such patients. Given lack of published data, controversy in certain areas remains. The most obvious variance in practice is between paediatric and adult teams, despite very similar outcomes. Paediatric teams typically employ a surgery-only approach, whereas in adult practice, all patients, except those with stage IA, grade 1 (low-grade) tumours, still generally receive adjuvant chemotherapy. Given the rarity of ovarian IT and lack of published data, discussion with GCT experts and/or national advisory panels is recommended.

Outcome of patients with stage I immature teratoma after surveillance or adjuvant chemotherapy.

Objective: Immature teratomas are rare malignant ovarian germ cell tumours, typically diagnosed in young women, where fertility-sparing surgery is the treatment of choice. The role of adjuvant chemotherapy in stage I disease remains controversial. We evaluated the impact of surveillance versus chemotherapy on the recurrence rate in stage I immature teratomas. Methods: We collected a single centre retrospective series of patients with stage I immature teratomas treated with fertility-sparing surgery at San Gerardo Hospital, Monza, Italy, between 1980 and 2019. Potential risk factors for recurrence were investigated by multivariate logistic regression. Results: Of the 74 patients included, 12% (9/74) received chemotherapy, while 88% (65/74) underwent surveillance. Median follow-up was 188 months. No difference in recurrence was found in stage IA/IB and IC immature teratomas [10% (6/60) vs. 28.6% (4/14) (P=0.087)], grade 1, grade 2, and grade 3 [7.1% (2/28) vs. 14.3% (4/28) vs. 22.2% (4/18) (p=0.39)], and surveillance versus chemotherapy groups [13.9% (9/65) vs. 11.1% (1/9)) (p = 1.00)]. In univariate analysis, the postoperative approach had no impact on recurrence. The 5-year disease-free survival was 87% and 90% in the surveillance and chemotherapy groups, respectively; the overall survival was 100% in both cohorts. Conclusions: Our results support the feasibility of surveillance in stage I immature teratomas. Adjuvant chemotherapy may be reserved for relapses. However, the potential benefit of chemotherapy should be discussed, especially for high-risk tumours. Prospective series are warranted to confirm our findings. What is already known on this topic: To date, no consensus has been reached regarding the role of adjuvant chemotherapy in stage I immature teratomas of the ovary. Some studies suggest that only surveillance is an acceptable choice. However, guidelines are not conclusive on this topic. What this study adds: No difference in terms of recurrence was observed between the surveillance and the adjuvant chemotherapy group. All patients who relapsed were successfully cured with no disease-related deaths. How this study might affect research practice or policy: Adjuvant chemotherapy should be appropriately discussed with patients. However, it may be reserved for relapse according to our data.

En bloc resection of an extremely giant mediastinal immature teratoma with somatic-type malignancy: A case report with a brief review of the literature.

Primary mediastinum immature teratoma with somatic-type malignant transformation (SM) is extremely rare, and the clinical prognosis is poor. Immature teratoma with SM is difficult to eradicate by chemotherapy due to poor sensitivity; therefore, surgical resection is recommended whenever possible because it may offer better survival.

Large Immature Intracranial Teratoma in an Infant: A Case Report.

Intracranial immature teratomas are rare, highly malignant, and fast-growing with a poor prognosis. We report the case of an infant with a large immature teratoma in the intracranial compartment. A two-month-old child presented to the emergency room with drowsiness and seizures. CT and cranial MRI showed hydrocephalus with a large expansive process in the right cerebral hemisphere extending to the infratentorial compartment, compressing the cerebellum and brainstem. It was then decided to partially resect the lesion. Postoperatively, due to the aggressiveness of the residual tumor, the patient developed complications (status epilepticus, hyperthermia, and electrolyte disorders) and died. Histopathological and immunohistochemical studies confirmed an immature teratoma. Teratomas are a subtype of germ cell tumors. Immature teratomas contain a population of cells that retain embryonic characteristics and tissues with more primitive components derived from all or some of the three germ layers (ectoderm, mesoderm, and endoderm). The prognosis of immature teratomas is associated with the degree of tumor differentiation, and those composed of undifferentiated embryonic tissues have a poor prognosis. This case report illustrates the rare and severe occurrence of a bulky immature cerebral teratoma in an infant. Unfortunately, despite undergoing a planned partial resection, the infant ended up having complications and died. Therefore, due to the size of the lesion in an infant, these cases are always complex when deciding on a surgical approach.

Variability in Surveillance Strategies Following Resection of Sacrococcygeal Teratoma.

INTRODUCTION: Surveillance following sacrococcygeal teratoma (SCT) resection varies. The purpose of this study was to describe the clinical characteristics and outcomes of patients undergoing SCT resection and examine current institutional practices to detect recurrence. METHODS: A single-institution retrospective review of children who underwent resection of an SCT from January 1, 2010 to December 31, 2020 was performed. Data were summarized and surveillance strategies compared between histopathologic subtypes using nonparametric methods. RESULTS: Thirty six patients (75.0% female) underwent SCT removal at a median age of 8 d. Histopathology revealed 27 mature teratomas (75.0%), eight immature teratomas (22.2%), and one malignant germ cell tumor (2.8%). Median postoperative follow-up was 3.17 y (interquartile range [IQR]: 2.31-4.38 y). Patients had a median of 2.32 clinic visits per year (IQR: 2.00-2.70), alpha-fetoprotein levels were obtained at a median of 2.01 times per year (IQR: 0-1.66), and surveillance imaging was performed at a median of 2.31 times per year (IQR: 0-2.84). Patients with immature teratomas had alpha-fetoprotein laboratories obtained more frequently than patients with mature teratomas (3.10 times/year versus 0.93 times/year, P = 0.001). There was no significant difference in the number of imaging studies obtained between groups. Two patients (5.6%) developed recurrence, which were identified on magnetic resonance imaging at 191 and 104 d postresection, respectively. CONCLUSIONS: Postoperative surveillance practices varied widely. Recurrence was noted in a single malignant case in the first year following resection. Multi-institutional studies are needed to determine the optimal surveillance strategy to detect recurrence of SCT.

Immature Teratoma: A Case Report of a Monster Tumor in the Pediatric Age Group.

Immature teratoma is a rare type of germ cell tumor containing embryonic tissues that may be malignant. It usually occurs in young women and affects the ovaries. Teratomas exhibit benign clinical behavior, but they can return as teratomas or with malignant components, and in a small subset of individuals, the prognosis may be deadly. We will discuss a case of a 9-year-old female child who presented with pain and a huge lump in the lower abdomen that was suggestive of an ovarian dermoid cyst or a germ cell tumor on computed tomography (CT) abdomen pelvis and underwent exploratory laparotomy and debulking surgery. Histopathology results indicated that she had a grade 3 immature teratoma. Postoperatively, the patient received 3 cycles of bleomycin, etoposide, and cisplatin (BEP) as adjuvant chemotherapy with a good response. She is currently under regular follow-up and has no evidence of recurrence or metastasis. This case illustrates the importance of early diagnosis and treatment of immature teratoma, which can be cured with surgery and chemotherapy. It also highlights the challenges of managing such a large tumor in a pediatric patient.