Immature Teratoma Research Articles

Childhood Sacrococcygeal Teratoma: A Histopathological Study

Background: Sacrococcygeal teratoma (SCT) is a relatively uncommon germ cell tumor and affecting neonates, infants as well as children with a female preponderance. Age is an important predictor of malignancy in SCT. Early diagnosis and management can provide better outcome. Histologically most of the cases are benign in nature. Aim: Since there have been paucity of sufficient studies in this field in Bangladesh. The present study was carried out to describe in various clinicopathological features and histopathological findings of SCT patients. Materials and Methods: The study included 66 patients of SCT operated from 2015 to 2021. A retrospective review of different clinical information and histopathological findings was done from the radiological and pathological records available in the Bangladesh Shishu Hospital & institute, Dhaka. Result: There were 44 females and 22 males with age ranging from newborn to 08 years. Forty two children (63%) presented in the neonatal age group. Most of the cases (39) have a size of 5-10cm in diameter. There were 66.66% cases of benign (mature), 10.60% immature and 22.72 malignant teratomas. Conclusion: Predominant cases of SCT are benign in nature histologically and have an excellent outcome after early diagnosis and surgery as well as reducing morbidity and mortality. Delayed presentation and the presence of malignant changes continue to be poor prognostic factors.

Epigenetic age provides insight into tissue origin in endometriosis.

Endometriosis is a common reproductive disease with a heterogeneous presentation. Classification attempts have thus far not offered insight into its cause or its symptoms. Endometriosis may result from the migration of shed endometrium to the peritoneal cavity. However, there are cases reported in girls without uteruses and men. While a non-retrograde menstruation origin of ectopic tissue is certain in these cases, we explored the use of DNA methylation age (DNAm age) to distinguish between retrograde and non-retrograde tissue origin in endometriosis. Using publicly available DNA methylation data and Horvath's pan-tissue epigenetic clock, we compared DNAm age and epigenetic age acceleration (EAA) of ectopic lesions to eutopic endometrium of diseased and control endometrium. We examined EAA in cancer metastasis and teratomas to control for migration and developmental origin. Disease status does not change DNAm age of eutopic endometrium, but the effect of ectopic status was profound: - 16.88years (p = 4.82 × 10-7). There were no differences between EAA of primary/metastatic tumor paired samples, suggesting that the observed effect is not due to tissue migration or ectopic location. Immature or mature teratoma compartments decreased DNAm age by 9.44 and 7.40years respectively, suggesting that developmental state correlates with DNAm age. Ectopic endometriotic tissue exhibits decelerated DNAm age, similar to that observed in teratomas composed of multipotent tissue, but distinct from eutopic tissue. The migration process does not change DNAm age and eutopic endometrium is concordant with chronological age regardless of disease status. We conclude that DNAm age of ectopic lesions suggests a distinct developmental origin for a subset of lesions. This finding may assist in classifying endometriosis into distinct subtypes that may be clinically relevant.

PEDT-6 A RANDOMIZED CONTROLLED CLINICAL STUDY OF RADIOTHERAPY COMBINED WITH CHEMOTHERAPY IN PATIENTS WITH NEWLY DIAGNOSED CENTRAL NERVOUS SYSTEM GERM CELL TUMOR, JCCG CNSGCT2021

Abstract Background Central nervous system (CNS) germ cell tumors account for 15.3% of all CNS tumors in children and adolescents and young adults. Five histologic types and mixed types exist and can be classified into the following clinical risk groups: germinomas, malignant germ cell tumors, and other germ cell tumors. In germinomas, platinum-based chemotherapy and whole ventricle/brain irradiations 23.4 Gy/13 fraction are the standard of care, but late adverse events related to radiation therapy are a problem. In malignant germ cell tumors, chemotherapy with alkylating agents and platinum, craniospinal irradiation (CSI), and local radiation therapy (local dose 50-59.4 Gy/25-33 fractions) have become the standard of care, but the 10-year OS is poor at about 60% and late radiation therapy-related adverse events are an issue. For various reasons, it is not easy to establish a standard of care for mature teratomas and immature teratomas, which constitute the other germ cell tumors, but it is essential to collect knowledge on tumor characteristics and prognosis. Methods and Patients The Japan Children's Cancer Group Brain Tumor Committee has planned a study to validate the classification by histological diagnosis and ancillary tumor markers, a phase III study to test the non-inferiority of radiation dose reduction to standard therapy for germinomas, a phase II study to test the superiority of high-dose chemoradiation with methotrexate intrathecal injection excluding CSI to standard therapy for malignant germ cell tumors, observational studies to elucidate pathogenesis of other germ cell tumors. Discussion If these hypotheses are proven, it is expected to reduce late adverse events and prolong survival with radiotherapy in children and adolescent/young adult generation patients.

Immature Teratoma with Growing Teratoma Syndrome and Gliomatosis Peritonei Coexistence.

Ovarian germ cell tumours constitute 5% of all ovarian cancers. During the natural course and treatment of these tumours , there may be more unusual cases. One of them is gliomatosis peritonei, which is characterised by the spread of glial cells on the peritoneal surfaces, while the other one is growing teratoma syndrome characterised by the rapid growth of benign component and loss or shrinkage of the malignant component in response to systemic chemotherapy during the treatment of germ cell tumours. Herein, we present a case of coexistence of gliomatosis peritonei and growing teratoma syndrome during the treatment of a 29-year female with immature ovarian teratoma. Key Words: Germ cell tumours , Growing teratoma syndrome, Gliomatosis peritonei, Ovaries.

Immature teratoma with very high AFP levels.

Immature teratoma with very high AFP levels.

Immature Teratoma with Growing Teratoma Syndrome and Gliomatosis Peritonei Coexistence

Immature Teratoma with Growing Teratoma Syndrome and Gliomatosis Peritonei Coexistence

Endoscopic aqueductal membrane fenestration was effective for intractable hydrocephalus after removal of a nongerminomatous germ cell tumor exhibiting growing teratoma syndrome: a case report

BackgroundPrimary central nervous system (CNS) germ cell tumors (GCTs) are rare neoplasms predominantly observed in the pediatric and young adult populations. A mixed GCT including immature teratoma exhibiting growing teratoma syndrome is presented. The pathogenesis of growing teratoma syndrome remains unclear, and its treatment strategy has not been established. GCTs are often located within the ventricles, causing hydrocephalus, which sometimes improves after removal of the tumor due to restoration of cerebrospinal fluid (CSF) flow. On the other hand, even if the flow route of CSF from the third ventricle to arachnoid granulations on the brain surface quadrigeminal cistern is restored after removal of the tumor, hydrocephalus may not improve.Case presentationA case whose intractable hydrocephalus improved after penetrating the aqueductal membrane via endoscopy is described. An 11-year-old boy was treated for pineal intracranial growing teratoma syndrome (IGTS). The tumor grew rapidly in a short period, and hydrocephalus progressed despite endoscopic third ventriculostomy (ETV). Although the obstruction was removed by radiation, chemotherapy, and total tumor resection, the hydrocephalus did not improve. Endoscopic membrane perforation was performed because a membrane-like structure was seen at the entrance of the cerebral aqueduct on magnetic resonance imaging. The hydrocephalus improved immediately after the operation, and the patient’s consciousness disturbance also improved significantly.ConclusionThe purpose of this report is to update the current knowledge and standards of management for patients with growing teratoma syndrome, as well as to drive future translational and clinical studies by recognizing the unmet needs concerning hydrocephalus.

Abstract #1325317: Malignant Ovarian Teratoma as Cause of Paraneoplastic Cushing Syndrome

Abstract #1325317: Malignant Ovarian Teratoma as Cause of Paraneoplastic Cushing Syndrome

Genomic characterization of intracranial teratomas using whole genome sequencing.

Intracranial teratoma is a rare neoplasm of the central nervous system, often classified into mature and immature types and occurs mainly in children and adolescents. To date, there has been no comprehensive genomic characterization analysis of teratoma due to its rarity of the cases. Forty-six patients with intracranial teratomas were collected and 22 of them underwent whole-exome sequencing, including 8 mature teratomas and 14 immature teratomas. A comprehensive analysis was performed to analyze somatic mutations, copy number variants (CNVs), mutational signatures, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway in our cohort. The most common somatic mutated gene in intracranial teratomas was CARD11 (18%) and IRS1 (18%), followed by PSMD11, RELN, RRAS2, SMC1A, SYNE1 and ZFHX3, with mutation rates of 14% for the latter six genes. Copy number variation was dominated by amplification, among which ARAF (50%), ATP2B3 (41%), GATA1 (41%), ATP6AP1 (36%), CCND2 (36%) and ZMYM3 (36%) were the most frequently amplified genes. Copy number deletion of SETDB2 and IL2 only appeared in immature teratoma (43% and 36%, respectively), but not in mature teratoma (p = 0.051 and 0.115, respectively). Prognostic analysis showed that TP53 mutations might be associated with poor prognosis of intracranial teratomas patients. Our study revealed the genetic characteristics of intracranial teratoma which might be valuable for guiding future targeted therapies.

Successful Surgical Treatment of Stage IVB Immature Teratoma Involving the Liver and Thoracic Cavity, With Combination Chemotherapy: A Case Report

Introduction Immature teratomas are very rare tumors, representing only 1% of ovarian cancers. Distant metastases to the liver effect late disease manifestation, rendering chemotherapy the only viable option. Case presentation Here, we report the successful surgical management of stage IVB immature teratoma after cisplatin-based chemotherapy. A 20-year-old woman presented with a huge abdominal palpable mass and dyspnea. Postoperative pathology confirmed immature teratoma with metastases to the liver, diaphragm, and thoracic cavity (stage IVB). The patient underwent right hemihepatectomy, diaphragm resection, thoracic mass resection, and diaphragm repair using aortic artificial graft. She did not receive postoperative adjuvant chemotherapy. After the complete surgical resection of the tumor, the patient had no recurrence during the 44-month follow-up period. Conclusion No established treatment modalities have been developed for further treatment, once the first-line combination chemotherapy achieves unfavorable results in stage IVB immature teratoma. Surgical resection may offer hope for excellent disease control in this dismal stage. To obtain best possible outcomes, coordinated care between oncologists and general surgeons is required.

Primary immature teratoma in the liver with growing teratoma syndrome and gliomatosis peritonei: a rare case report

BackgroundPrimary liver immature teratoma is extremely rare and only 4 cases have been reported, let alone with growing teratoma syndrome (GTS) and/or gliomatosis peritonei (GP).Case presentationHere, we report a case of a 44-year-old female presenting with progressive abdominal distension and elevated serum alpha fetal protein (AFP) level. CT/MRI scans revealed a large cystic-solid mass in the right lobe of the liver, accompanied with implant or metastasis in the abdominal cavity. Pathologic examination at biopsy suggested immature teratoma. After 4 cycles of chemotherapy, an MRI showed a slight increase in tumor size. Therefore, surgical resection of the right lobe of the liver was performed. The final histological diagnosis was a mature teratoma (tumor size 28 cm × 14 cm × 13 cm), with no residual immature component, and the diagnosis of GTS was considered. The patient continued to receive 2 courses of postoperative chemotherapy. An abdominal CT scan revealed innumerable miliary nodules in bilateral adnexal areas 2 months after surgery. Histologically, large numbers of mature glia were observed, supporting the diagnosis of GP.ConclusionsWe report for the first time a case of primary liver immature teratoma with GTS and GP in an adult. Longer follow-up is needed to assess definitive efficacy.

Oncology and reproductive outcomes over 16 years of malignant ovarian germ cell tumors treated by fertility sparing surgery.

Malignant ovarian germ cell tumors (MOGCT) are rare and frequently occur in women of young and reproductive age and the oncologic and reproductive outcomes after fertility-sparing surgery (FSS) for this disease are still limited. To evaluate the oncology and reproductive outcomes of MOGCT patients who underwent FSS. All MOGCT patients who underwent FSS defined as the operation with a preserved uterus and at least one side of the ovary at our institute between January 2005 and December 2020 were retrospectively reviewed. Sixty-two patients were recruited for this study. The median age was 22 years old and over 77% were nulliparous. The three most common histology findings were immature teratoma (32.2%), dysgerminoma (24.2%), and yolk sac tumor (24.2%). The distribution of stage was as follows; Stage I, 74.8%; stage II, 9.7%; stage III, 11.3%; and stage IV, 4.8%. Forty-three (67.7%) patients received adjuvant chemotherapy. With a median follow-up time of 96.3 mo, the 10-year progression-free survival and overall survival were 82.4% and 91%, respectively. For reproductive outcomes, of 43 patients who received adjuvant chemotherapy, 18 (41.9%) had normal menstruation, and 17 (39.5%) resumed menstruation with a median time of 4 mo. Of about 14 patients who desired to conceive, four were pregnant and delivered good outcomes. Only one case was aborted. Therefore, the successful pregnancy rate was 28.6. The oncology and reproductive outcomes of MOGCT treated by FSS are excellent. Many patients show a long survival time with normal menstruation. However, the obstetric outcome is not quite satisfactory.

Use and Accuracy of Intraoperative Frozen Section Analysis for Ovarian Masses in Children and Adolescents

Describe the current practice patterns and diagnostic accuracy of frozen section (FS) pathology for children and adolescents with ovarian masses DESIGN: Prospective cohort study from 2018 to 2021 SETTING: Eleven children's hospitals PARTICIPANTS: Females age 6-21 years undergoing surgical management of an ovarian mass INTERVENTIONS: Obtaining intraoperative FS pathology MAIN OUTCOME MEASURE: Diagnostic accuracy of FS pathology RESULTS: Of 691 patients who underwent surgical management of an ovarian mass, FS was performed in 27 (3.9%), of which 9 (33.3%) had a final malignant pathology. Among FS patients, 12 of 27 (44.4%) underwent ovary-sparing surgery, and 15 of 27 (55.5%) underwent oophorectomy with or without other procedures. FS results were disparate from final pathology in 7 of 27 (25.9%) cases. FS had a sensitivity of 44.4% and specificity of 94.4% for identifying malignancy, with a c-statistic of 0.69. Malignant diagnoses missed on FS included serous borderline tumor (n=1), mucinous borderline tumor (n=2), mucinous carcinoma (n=1), and immature teratoma (n=1). FS did not guide intervention in 10 of 27 (37.0%) patients: 9 with benign FS underwent oophorectomy, and 1 with malignant FS did not undergo oophorectomy. Of the 9 patients who underwent oophorectomy with benign FS, 5 (55.6%) had benign and 4 (44.4%) had malignant final pathology. FSs are infrequently utilized for pediatric and adolescent ovarian masses and could be inaccurate for predicting malignancy and guiding operative decision-making. We recommend continued assessment and refinement of guidance before any standardization of use of FS to assist with intraoperative decision-making for surgical resection and staging in children and adolescents with ovarian masses.

Fat-containing adnexal masses on MRI: solid tissue volume and fat distribution as a guide for O-RADS Score assignment.

To explore ways to improve O-RADS MRI scoring for fat-containing adnexal masses, by investigating methods for quantifying solid tissue volume and fat distribution and evaluating their associations with malignancy. This retrospective, single-center study included patients with fat-containing adnexal masses on MRI during 2008-2021. Two radiologists independently reviewed overall size (Sizeoverall), size of any solid tissue (Sizeanysolid), size of solid tissue that was not Rokitansky nodule (Sizenon-Rokitansky), and fat distribution. Wilcoxon test, Fisher-exact test, and ROC curve analysis were performed. Reference standard was pathology or follow-up > 24months. 188 women (median age 35years) with 163 benign and 25 malignant lesions were included. Sizeoverall (R1, 9.9cm vs 5.9cm; R2, 12.4cm vs 6.0cm), Sizeanysolid (R1, 5.1cm vs 1.2cm; R2, 3.2cm vs 0.0cm), Sizenon-Rokitansky (R1, 5.1cm vs 0.0cm; R2, 3.1cm vs 0.0cm), and fat distribution differed significantly between malignant and benign lesions (p < 0.01). Area under ROC curve was greatest using Sizenon-Rokitansky (R1, 0.83; R2, 0.86) vs Sizeoverall (R1, 0.78; R2, 0.81) or Sizeanysolid (R1, 0.79; R2, 0.81), though differences were non-significant (p = 0.48-0.93). Cutoffs for Sizenon-Rokitansky (R1, ≥ 1.2cm; R2, ≥ 1.0cm) yielded sensitivity and specificity of 0.72 and 0.93 (R1) and 0.76 and 0.95 (R2). Among immature teratomas, 85.7% displayed scattered fat. Overall size, size of (any or non-Rokitansky-nodule) solid tissue, and fat distribution differed between benign and malignant fat-containing adnexal masses. Incorporating these would constitute simple and practical approaches to refining O-RADS MRI scoring.

Clinicopathological features of mixed germ cell tumors (with immature teratoma and yolk sac tumor) in the uterus

目的： 探讨子宫恶性混合性生殖细胞肿瘤（未成熟畸胎瘤合并卵黄囊瘤）的临床病理特点、治疗及预后。 方法： 对2例子宫恶性混合性生殖细胞肿瘤进行病理形态学观察、免疫组织化学及短串联重复序列（short tandem repeat，STR）分型检测，结合临床特征进行分析总结。 结果： 患者年龄分别为35岁和29岁，临床表现为反复阴道流血和急腹症症状。HE切片显示肿瘤中含有成熟和未成熟的胚层成分，例1的未成熟成分表现为幼稚的间叶组织，未见神经组织；例2见原始神经外胚层组织。2例均见卵黄囊瘤成分。免疫组织化学显示肿瘤细胞SALL4、Glypican3阳性、CDX2局灶阳性、甲状腺转录因子1局灶阳性。STR检测结果显示例1肿瘤组织的遗传接合性为杂合性，例2为纯合性。 结论： 子宫恶性混合性生殖细胞肿瘤（未成熟畸胎瘤合并卵黄囊瘤）非常罕见，形态学、免疫表型、分子病理学分析相互结合方可明确诊断，手术切除及联合化疗是主要治疗手段。.

Gliomatosis Peritonei and Its Relation to Teratoma: Role of Imaging and Histological Aspects.

Gliomatosis peritonei (GP) is a rare disease, usually associated with immature ovarian teratoma. GP may be rarely associated with mature ovarian teratoma. GP is composed of mature glial tissue elements, which histopathological examination can further confirm. Benign glial implants usually involve the omentum, peritoneum and lymph nodes. Many benign and malignant peritoneal diseases may mimic GP on clinical examination. GP may be confused with peritoneal carcinomatosis on computed tomography (CT) scan. A microscopic examination from peritoneal mass biopsy helps to rule out differential diagnosis. GP consists of mature glial tissue and is regarded as grade 0 according to the WHO grading of immature teratoma (IT). GP corresponds to a good prognosis with occasional cases showing malignant evolution.

Histopathological study of childhood tumors of the urogenital system

Background: Malignancies form one of the important causes of pediatric morbidity as well as mortality. These malignancies are increasingly becoming more important causes of pediatric mortality as deaths from other causes such as infections, malnutrition, and heart diseases are decreasing due to advances in field of pediatric medicine. Urogenital tumors form one of the important causes of pediatric urology consultations. This study was done to describe the spectrum and clinicopathologic features of childhood tumors of the urogenital tract in our institution. Aims and Objectives: The aims of this study were as follows: (1) To study the histopathology of childhood tumors of the urogenital system. (2) To describe the clinical, gross, and microscopic features of these tumors. Materials and Methods: This was a retrospective study conducted in the Department of Pathology of Christian Medical College, Vellore, in which children below 18 years of age, in whom biopsies or resections of tumors of the urogenital system was done, were included on the basis of a predefined inclusion and exclusion criteria. Slides of all such specimens were retrieved from the archives of General Pathology. The clinical features were recorded from cases papers. Microscopic and immunohistochemistry findings were studied. Data analysis was done using SPSS 16.0. Descriptive data were reported and compared. Categorical variables were reported using frequency and percentage. Continuous variables were reported using mean ± standard deviation or median (interquartile range) as appropriate. Results: In our study of 100 pediatric patients with urogenital tumors, there were 55 boys (55%) and 45 girls (45%) amongst the studied cases with a M: F ratio of 1:0.81. The most common type of urogenital neoplasm in pediatric age group was found to be Wilms tumor which was seen in 55 (55%) patients. The other common histopathological findings were mature cystic teratoma (13%), mixed germ cell tumor (7%), yolk sac tumor (6%), and rhabdomyosarcoma (6%). Sertoli cell tumor, Sertoli-Leydig cell tumor, and clear cell renal carcinoma were less common and were seen in one patient (1%) each. Conclusion: Urogenital tumors in pediatric age groups form one of the important causes for pediatric urology consultation. In our study Wilms tumor was most common urogenital tumors followed by mature cystic teratoma, mixed germ cell tumor, yolk sac tumor, rhabdomyosarcoma, and immature teratoma.

A Case of Growing Teratoma Syndrome with Gliomatosis Peritonei in The Setting of Ovarian Immature Teratoma

Growing tumor syndrome (GTS) occurs rarely in women with immature ovarian teratoma. Unlike many ovarian malignancies, it can be successfully treated with chemotherapy and fertility-sparing surgery. Early diagnosis is crucial to avoid unnecessarily aggressive treatment.

Neuroectodermal Rosettes in Immature Teratomas Are Not the Counterpart of Embryonal Tumours With Multilayered Rosettes.

Immature teratomas (IMT) are malignant germ cell tumours composed of immature embryonal tissue, mostly neuroectodermal tubules and rosettes. Meanwhile, embryonal tumours with multilayered rosettes (ETMR) are aggressive central nervous system tumours composed of neurocyte proliferation with rosette formation. The histopathological appearance of rosette formation in ETMR is the same as that in IMT. Recently, 19q13.42 amplification was reported as a specific genetic marker of ETMR. The aim of this study was to compare ETMR with IMT from histological, immunohistochemical and genetic perspectives. We retrospectively analysed tumour samples from 48 patients with IMT and 1 patient with ETMR. We performed fluorescence in situ hybridization (FISH) analysis, which revealed amplification of the 19q13.42 locus in the ETMR case. In addition, immunohistochemical analyses of LIN28A, β-catenin and p53 were performed. In FISH analysis all 48 cases of IMT showed diploidy. By immunohistochemical analysis, LIN28A expression was observed in 54% of IMT cases (25/48 cases) and in the ETMR case. Nuclear staining of β-catenin was observed in 33% of IMT cases (16/48 cases). Meanwhile, aberrant expression of p53 was not identified in IMT nor ETMR cases. Genetic changes associated with IMT differ from those in ETMR, but LIN28A protein immunohistochemical expression, which is specific for ETMR, can be a biomarker for the immature neuroepithelial component in IMT.

Pelvic masses after surgery for immature ovarian teratoma: A 10-year experience of Western China.

There are debates on the management of immature ovarian teratoma and its recurrence. This study aimed to report the incidence of pelvic masses after surgery for immature ovarian teratoma and to identify prognostic factors of disease-free survival after surgery, discussing aspects of primary treatment and postoperative management.Data on the diagnosis and treatment of patients with immature teratomas were collected. Follow-up data were acquired from clinic visits and telephone interviews. Disease-free survival was defined as the time interval between the initial surgery for immature ovarian teratoma and the diagnosis of a new pelvic mass. Survival curves were drawn using the Kaplan-Meire method, and multivariate analysis was performed using the Cox proportional hazard regression model using PASW statistics software.The estimated 5-year disease-free survival and overall survival were 74.3% (95%CI 63.9%–84.7%) and 96.5% (95%CI 91.6%–100.0%), respectively. The incidence of growing teratoma syndrome and immature teratoma relapse at a median follow-up of 46 months were 20.0% and 7.7%, respectively. Two patients died of repeated relapses or repeated growing teratoma syndrome. Rupture of initial lesions (RR 4.010, 95%CI 1.035–5.531), lymph node dissection (RR 0.212, 95%CI 0.051–0.887) and adjuvant chemotherapy (RR 0.143, 95%CI 0.024–0.845) were independent prognostic factors for disease-free survival.The development of growing teratoma syndrome is more prevalent than relapse after treatment of immature ovarian teratomas. Lymph node dissection and chemotherapy are recommended to reduce recurrence. Close surveillance and active surgical intervention are important for the diagnosis and appropriate management of new pelvic masses.