Prenatal diagnosis in estimating the prognosis of sacrococcygeal teratoma.

: Sacrococcygeal teratoma is a rare congenital malformation, the prognosis depends on factors affecting foetal development. The diagnosis is based on ultrasound examination, especially the evaluation of the detailed morphology of the foetus in the 20th week of pregnancy. Therefore, it is crucial to keep looking for ultrasound markers that would prenatally determine the most accurate prognosis for the foetus. Now, we rely on a small number of studies with a predominance of case reports. We offer a literature review of the essential information concerning sacrococcygeal teratoma diagnostics, therapy, and complications of sacrococcygeal teratomas in connection with prenatal diagnosis. It turns out that in cases with a favourable prognosis according to prenatal ultrasound examination and adequate surgical treatment after childbirth, the prognosis of this congenital malformation is excellent.

Mucinous intestinal adenocarcinoma arising from mature cystic teratoma of the ovary treated with FOLFOX-6 - a case report.

The malignant transformation of mature cystic teratomas during pregnancy is a rare occurrence in medical literature. In this case report, we present a remarkable instance of mucinous intestinal adenocarcinoma arising from a mature ovarian cystic teratoma diagnosed during pregnancy. This is among the few reports detailing the effective use of the FOLFOX 6 chemotherapy regimen for treating this type of intestinal cancer. Furthermore, we emphasize the immunohistochemical results that confirm the colorectal histological origin.

Choroid Plexus Papilloma Tumor of the Ovary: A Case Report.

This is a case report of a 19-year-old nulligravid patient with a choroid plexus papilloma tumor in a mature cystic teratoma in the right adnexal area. The patient, who had abdominal pain and dyspepsia, showed a 9 cm diameter mass with a solid/cystic component, initially interpreted as a dermoid cyst in the right adnexal region. Mature cystic teratoma is a benign germ cell tumor and is common in women during the reproductive period. However, choroid plexus papilloma is a rare brain tumor. The diagnosis of ovarian choroid plexus papilloma can be made with imaging tests such as magnetic resonance imaging or computed tomography, and treatment is usually by surgical removal. Only four cases of ovarian teratoma with choroid plexus papilloma have been informed in the English literature, and this issue is the fifth.

A case report of hepatic fetus-in-fetu: Approach to diagnosis.

Multiple theories have been proposed about the pathophysiology of Fetus-in-fetu (FIF). The most widely accepted theory is abnormal embryogenesis in diamniotic monochorionic pregnancies, in which a malformed parasitic fetus is found within the body of a twin host. Hepatic FIF has been reported in almost 1% of FIF cases, with only 2 case reports being published in the literature. This article presents the third case report of intrahepatic FIF. Additionally, we review the role of radiology in diagnosing these cases and guiding their proper management. This case report supports the monozygotic twin theory of FIF and the diagnostic dilemma of FIF vs. teratoma can be solved through collaborative work between radiologists and pathologists.

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.

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.

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

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

Unexpected placental tumor: A case report.

INTRODUCTION AND IMPORTANCE: Placental non-trophoblastic tumors (PNTT) are uncommon, consisting mainly of chorangiomas, placental teratomas (PT) and haemangiomas. PT are exceedingly rare, with less than 40 cases reported in the literature. We, herein, present a case of mature PT arising within the membranes, and we aim to discuss the clinico-pathological characteristics of this rare entity. CASE PRESENTATION: A 30-year-old female patient, gravida 1, para 1, with no medical history, was admitted at 40 weeks' gestational age. Ultrasound in the third trimester of pregnancy revealed agenesis of the left fetal kidney and a fundal placenta with increased uterine artery resistance. A cesarean section was performed for failure of labor's induction. Gross examination of the placenta revealed a solid polypoid mass, measuring 4 × 2 cm, attached to the membranes and covered by a smooth cutaneous coating. The cut surface was soft, yellowish, and focally heterogenous, with areas of adipose tissue and cartilage. Microscopic examination revealed that the mass was made up of a mature keratinized squamous layer, with skin appendages, adipose and cartilaginous tissues. The diagnosis of PT was established. CLINICAL DISCUSSION: PT are rarely suspected on prenatal ultrasonography and the diagnosis is made after delivery. Only pathological examination allows the diagnosis of certainty. Their histogenesis is still poorly understood. CONCLUSION: We presented a rare case of mature PT arising within the membranes. PT are extremely uncommon tumors. Usually, they are benign, and no fetal or maternal complications. A better knowledge of these uncommon tumors is mandatory to not miss the diagnosis.

Pituitary germinoma after resection of a mature third ventricular teratoma: illustrative case.

BACKGROUND: Metachronous intracranial germ cell tumors (iGCTs)-unrelated, histologically different iGCTs occurring at different time points-occurring within the same patient remain a rarity. Herein, the authors report such a case and discuss the literature and potential pathophysiological mechanisms leading to this phenomenon. OBSERVATIONS: A 9-year-old boy presented with new-onset impaired balance, headaches, nausea, visual disturbances, and left facial paresis. Magnetic resonance imaging (MRI) scans revealed a suspected pineal region teratoma originating from the pineal gland with consecutive obstructive hydrocephalus. A mature teratoma was diagnosed and resected. Postoperative recovery was good, and the patient could return to his normal daily activities. However, a new, slowly progressive lesion in the sellar region with an enlarged infundibular stalk was detected on follow-up MRI 3.5 years after initial pineal region teratoma resection. Biopsy revealed a newly developed pure germinoma. The patient was treated with radiotherapy plus chemotherapy and remained relapse free at the last follow-up. Sixteen other cases have reported a surgically resected primary mature teratoma, wherein patients developed metachronous germinomas during follow-up. Different theories try to elaborate this phenomenon, yet none can completely account for it. LESSONS: Although rare, metachronous iGCT is a phenomenon neurosurgeons should be aware of. In patients treated for iGCT, close long-term clinical, imaging, and laboratory follow-up is recommended. https://thejns.org/doi/10.3171/CASE2443.

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.

Impact of microscopic deposits of yolk sac tumor on recurrence of mature sacrococcygeal teratoma.

INTRODUCTION: Sacrococcygeal teratomas (SCT) with malignant histology frequently recur and are treated aggressively, but risk factors and surveillance protocols are less established for mature tumors. In particular, prior studies have not investigated whether microscopic deposits of yolk sac tumor (YST) in otherwise mature teratomas lead to higher recurrence rates. METHODS: We reviewed patients with mature SCTs resected at our institution from 2011 to 2021 and analyzed tumor characteristics, treatment, and outcomes. RESULTS: We identified 56 patients with mature SCT, of which 9 (16%) demonstrated microscopic YST. Following surgery, 7/56 (13%) patients developed local recurrence at a mean of 1.2 ± 0.7 years, while no patients developed metastases. Recurrence was more likely in patients with microscopic YST [5/9 (56%) vs. 2/47 (4%), p = 0.021] and positive margins [6/24 (35%) vs. 1/32 (3.1%), p = 0.030]. A solid tumor component tended to increase recurrence risk as well [6/29 (21%) vs. 1/27 (4%), p = 0.053]. Five patients demonstrated malignant recurrence and were all detected by a rising alpha-fetoprotein (AFP), while two patients demonstrated recurrence of mature teratoma and were detected on surveillance magnetic resonance imaging (MRI). CONCLUSIONS: Microscopic foci of YST may increase recurrence risk for patients with mature SCT. Such patients might benefit from closer postoperative surveillance with serial AFP measurements and MRI.

MRI features of ovarian teratomas with somatic-type malignancy and mature cystic teratomas.

PURPOSE: We evaluated the magnetic resonance imaging (MRI) features of ovarian teratomas with somatic-type malignancy (TSMs) and benign ovarian mature cystic teratomas (MCTs) to determine the diagnostic contribution of the MRI findings for differentiating these two teratomas. METHODS: We compared the MRI findings between ovarian TSMs (n = 10) and MCTs (n = 193), and we conducted a receiver operating characteristic (ROC) analysis to determine the MRI findings' contribution to the differentiation of TSMs from MCTs. RESULTS: The maximum diameters of whole lesion and the largest solid component in the TSMs were larger than those of the MCTs (p = 0.0001 and p < 0.0001, respectively). Fat tissue in solid components was seen in 73/116 (62.9%) MCTs but in none of the TSMs (p = 0.0001). Ring-like enhancement in solid components was seen in 60/116 (51.7%) MCTs and none of the TSMs (p = 0.0031). On dynamic contrast-enhanced MRI (DCE MRI), all of the solid components in the TSMs showed a high- or intermediate-risk time intensity curve (TIC), and those in 113 of the 116 (97.4%) MCTs showed a low-risk TIC (p < 0.0001). The area under the curve of the ROC analysis using the high-/intermediate-risk TIC on DCE MRI was the highest (0.99) for differentiating TSMs from MCTs: sensitivity 100%, specificity 97.4%, positive predictive value 75.0%, negative predictive value 100%, and accuracy, 97.6%. CONCLUSION: Compared to ovarian MCTs, ovarian TSMs are larger and have larger solid components with high- or intermediate-risk TICs on DCE MRI. Ovarian MCTs frequently show small solid components with fat tissue, ring-like enhancement, and a low-risk TIC on DCE MRI.

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.

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

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

Image-guided aspiration of a cystic mediastinal teratoma: A case report and literature review.

A 51-year-old male presented to our tertiary referral hospital with progressive shortness of breath and orthopnea. A computed tomography (CT) of the chest was performed that showed a large cystic middle mediastinal mass. Magnetic resonance imaging (MRI) of the chest demonstrated a large, well-circumscribed, T2-hyperintense cystic middle mediastinal mass resulting in significant compression of the trachea, brachiocephalic artery, superior vena cava, and azygos vein. The patient subsequently developed a right hemispheric stroke due to compression of the brachiocephalic artery and was too clinically unstable to undergo or definitive operative management of the mediastinal cyst. Percutaneous CT-guided aspiration of the cystic middle mediastinal mass was performed, with successful decompression resulting transient improvement in mass-effect on the surrounding mediastinal structures. Six days after successful aspiration of the mass, the patient underwent attempted bronchoscopy for management of tracheobronchial secretions which was complicated by massive pulmonary hemorrhage leading to cardiopulmonary arrest and death. An autospy was conducted, revealing pathological finding consistent with a mature cystic teratoma.

Fetal Head and Neck Imaging.

Prenatal MRI plays an essential role in the evaluation of the head and neck. This article overviews technical considerations and both isolated and syndromic anomalies of the fetal calvarium, globes and orbits, ears, maxilla, mandible, and neck.

Congenital Chest Lesions and Interventions.

Anomalies of the fetal chest require advanced imaging with ultrasound and MR imaging as well as expertise on the part of the interpreting pediatric radiologist. Congenital diaphragmatic hernia and congenital lung malformation are the most frequently seen, and in both conditions, the radiologist should provide both detailed anatomic description and measurement data for prognostication. This article provides a detailed approach to imaging the anatomy, in-depth explanation of available measurements and prognostic value, and keys to identifying candidates for fetal intervention. Less common congenital lung tumors and mediastinal and chest wall masses are also reviewed.

Maxillary Soft Tissue Mass in a Newborn Imposing as Teratoma: Diagnostic Challenges and Management Considerations.

Congenital facial teratomas in neonates pose diagnostic challenges, necessitating a multidisciplinary approach for accurate diagnosis and management. We present the case of a four-day-old female infant delivered via Lower Segment Cesarean Section (LSCS) with a protruding nasolabial mass noted since birth. CT brain plain revealed a soft tissue density opacification arising from the left maxilla with an underlying bony outgrowth, suggestive of a benign congenital developmental anomaly most likely teratoma. Further evaluation is warranted to delineate the exact nature and extent of the anomaly. This case underscores the importance of meticulous evaluation and interdisciplinary collaboration in managing congenital anomalies, with surgical intervention potentially required based on individual patient factors. Continued research and collaboration among medical specialities are essential to improve understanding and management strategies for congenital facial teratomas.

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

BACKGROUND: Mature cystic teratomas (MCT) of the ovary are benign ovarian germ cell neoplasms. Malignant transformation is possible but rare and ovarian carcinoid tumors in MCT are among the most extremely rare subtypes. CASE PRESENTATION: We report a case of a 60-year-old Iranian woman suffering from postmenopausal bleeding and hypogastric pain for the last 40 days. An adnexal mass was detected during the physical examination. Ultrasound imaging showed a (55 × 58) mm mass in the left ovary. Total abdominal hysterectomy, bilateral salpingooophorectomy and comprehensive staging surgery were performed for the patient. Intraoperative frozen section of the left ovarian mass was indicative of a malignant tumor. She was diagnosed with a carcinoid tumor with benign mucinous cystadenoma arising on MCT of the ovary, confirmed in the histopathology and immunohistochemistry examination. The tumor was classified as low grade and no chemotherapy cycles were considered. The patient was followed up long-term and no recurrence was observed during 14 months of examinations. CONCLUSION: Ovarian carcinoids arising from MCT are rare neuroendocrine neoplasms, and proper diagnosis of these tumors requires careful histopathology evaluation and appropriate examination. Therefore, it is necessary to consider these tumors as a possible differential diagnosis and evaluate them in individuals (especially postmenopausal women) who have abdominal pain or abnormal bleeding and a palpable mass.

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.