Review

Authors: Luping Cong, Sijia Wang, Suet Ying Yeung...

Ovarian dermoid cysts, also called mature cystic teratomas (MCTs), account for 69% of ovarian germ cell tumors in young women. The tumors are formed by tissues derived from three germ layers, and sebaceous materials are most commonly seen. The origin of MCTs is widely considered to be the germ cell origin, which completes meiosis I. The clinical symptoms vary widely, but 20% of tumors could be asymptomatic. The diagnosis of MCTs is usually made without difficulty by ultrasound and confirmed by histopathology post-operatively. The imaging findings have a high diagnostic value. The typical characteristics present in the sonographic images, including a dermoid plug or Rokitansky nodule, are considered strong evidence for a teratoma. Although the malignant transformation of MCTs is rare, it can occur in some cases, especially in women of advanced age. The treatment of MCTs depends on the risk of malignancy, the age of the patient, and the patient's fertility reserve requirement. In this article, we review the epidemiology, clinical symptoms, diagnosis criteria, cellular origin, and treatment of mature cystic teratomas.

Topics: Humans; Female; Teratoma; Ovarian Neoplasms; Meiosis; Cell Transformation, Neoplastic

PubMed: 37047114
DOI: 10.3390/ijms24076141

Authors: Gabriel Jose de Carli, Tiago Campos Pereira

Spontaneous parthenogenetic and androgenetic events occur in humans, but they result in tumours: the ovarian teratoma and the hydatidiform mole, respectively. However, the observation of fetiform (ovarian) teratomas, the serependious identification of several chimeric human parthenotes and androgenotes in the last two decades, along with the creation of viable bi-maternal mice in the laboratory based on minor genetic interferences, raises the question of whether natural cases of clinically healthy human parthenotes have gone unnoticed to science. Here we present a hypothesis based on three elements to support the existence of such elusive individuals: mutations affecting (i) genomic imprinting, (ii) meiosis and (iii) oocyte activation. Additionally, we suggest that the routine practice of whole genome sequencing on every single newborn worldwide will be the ultimate test to this controversial, yet astonishing hypothesis. Finally, several medical implications of such intriguing event are presented.

Topics: Animals; Chimera; Diploidy; Female; Genomic Imprinting; Heterozygote; Humans; Meiosis; Mice; Models, Genetic; Mutation; Oocytes; Ovarian Neoplasms; Parthenogenesis; Teratoma; Whole Genome Sequencing

PubMed: 28818272
DOI: 10.1016/j.mehy.2017.07.008

Review

Authors: Shi-Min Yuan, Hong Lin

Yuan SM, Lin H. Fetal intrapericardial teratomas. Turk J Pediatr 2019; 61: 153-158. Fetal intrapericardial teratomas are rare and benign. However, they can be life-threatening owing to the complicated massive pericardial effusions, tamponade, or cardiorespiratory distress. The purpose of this review is to give an overview on clinical features, management and prognoses of fetal intrapericardial teratomas. The materials of this study were based on a comprehensive literature retrieval of fetal intrapericardial teratomas published in the past two decades. It was noteworthy that fetal pericardial/pleural effusions or ascites were detected since 19-week gestation, and tumors could be found since 21-week gestation. A growing trend of tumors was observed in more than half of the cases. Prenatal centesis and postnatal tumor resection were required in most of the cases. Fetoneonatal deaths (including fetal demise, termination of pregnancy and neonatal death) occurred in one-third of the cases. The neonatal survival rate was 59.4%. Symptomatic fetuses usually required perinatal maneuvers, such as pericardiocentesis, or thoraco-/ pericardio-amniotic shunt in order to improve fetal hemodynamic status and prolong the pregnancy for lung maturity. Open fetal surgery and ex utero intrapartum treatment (EXIT) procedure can be considered, however, impact of EXIT procedure on later delivery remains uncertain. Postnatal operation is a curative and symptom-relieving method for those cases with prenatally diagnosed intrapericardial teratomas. As a result, the fetoneonatal outcomes are somewhat promising.

Topics: Abortion, Induced; Female; Fetal Death; Fetal Heart; Heart Neoplasms; Humans; Hydrops Fetalis; Infant, Newborn; Paracentesis; Pericardial Effusion; Perinatal Death; Pregnancy; Prenatal Diagnosis; Teratoma

PubMed: 31951327
DOI: 10.24953/turkjped.2019.02.001

Review

Authors: Jia-Xing Guo, Jian-Guo Zhao, Ying-Na Bao...

Sacrococcygeal teratomas (SCT) in adults are extremely rare, and most SCTs are located either mainly outside the pelvis, with a small number of intrapelvic components, or mostly in the pelvis (types III and IV). The etiology of teratomas remains unknown. Most teratomas are benign, and approximately 1 to 2% of teratomas undergo malignant transformation, including squamous cell carcinoma, adenocarcinoma, sarcoma, and other malignancies. Most SCTs grow insidiously, and their symptoms are not easily detected in the early stages. Some cases may only be discovered through physical examination or compression symptoms when the tumor reaches a detectable size. Computed tomography and magnetic resonance imaging have high detection rates for presacral space-occupying lesions and can provide imaging details with guiding significance for the selection of surgical methods. Surgical resection is the preferred treatment option for SCT and can determine the pathological type. Common sacrococcygeal malignancies are mainly immature teratomas and mature teratomas. When the presence of malignant components is confirmed, the treatment model should be adjusted according to pathological type.

Topics: Humans; Adult; Sacrococcygeal Region; Teratoma; Tomography, X-Ray Computed; Pelvic Neoplasms; Pelvis; Spinal Neoplasms

PubMed: 36596010
DOI: 10.1097/MD.0000000000032410

Review

Authors: Joaquin Montilla-Rojo, Monika Bialecka, Kimberley E Wever...

Pluripotency describes the ability of stem cells to differentiate into derivatives of the three germ layers. In reporting new human pluripotent stem cell lines, their clonal derivatives or the safety of differentiated derivatives for transplantation, assessment of pluripotency is essential. Historically, the ability to form teratomas in vivo containing different somatic cell types following injection into immunodeficient mice has been regarded as functional evidence of pluripotency. In addition, the teratomas formed can be analyzed for the presence of malignant cells. However, use of this assay has been subject to scrutiny for ethical reasons on animal use and due to the lack of standardization in how it is used, therefore questioning its accuracy. In vitro alternatives for assessing pluripotency have been developed such as ScoreCard and PluriTest. However, it is unknown whether this has resulted in reduced use of the teratoma assay. Here, we systematically reviewed how the teratoma assay was reported in publications between 1998 (when the first human embryonic stem cell line was described) and 2021. Our analysis of >400 publications showed that in contrast to expectations, reporting of the teratoma assay has not improved: methods are not yet standardized, and malignancy was examined in only a relatively small percentage of assays. In addition, its use has not decreased since the implementation of the ARRIVE guidelines on reduction of animal use (2010) or the introduction of ScoreCard (2015) and PluriTest (2011). The teratoma assay is still the preferred method to assess the presence of undifferentiated cells in a differentiated cell product for transplantation since the in vitro assays alone are not generally accepted by the regulatory authorities for safety assessment. This highlights the remaining need for an in vitro assay to test malignancy of stem cells.

Topics: Humans; Animals; Mice; Pluripotent Stem Cells; Teratoma; Embryonic Stem Cells; Cell Line; Injections; Cell Differentiation

PubMed: 36835305
DOI: 10.3390/ijms24043879

Review

Authors: G H Mahour

Topics: Age Factors; Child; Combined Modality Therapy; Female; Follow-Up Studies; Humans; Infant, Newborn; Male; Prognosis; Sacrococcygeal Region; Teratoma

PubMed: 3141009
DOI: 10.3322/canjclin.38.6.362

Authors: Yasaman Aghazadeh, Farida Sarangi, Frankie Poon...

Human pluripotent stem cell (hPSC)-derived pancreatic progenitors (PPs) can be differentiated into beta-like cells in vitro and in vivo and therefore have therapeutic potential for type 1 diabetes (T1D) treatment. However, the purity of PPs varies across different hPSC lines, differentiation protocols, and laboratories. The uncommitted cells may give rise to non-pancreatic endodermal, mesodermal, or ectodermal derivatives in vivo, hampering the safety of hPSC-derived PPs for clinical applications and their differentiation efficiency in research settings. Recently, proteomics and transcriptomics analyses identified glycoprotein 2 (GP2) as a PP-specific cell surface marker. The GP2-enriched PPs generate higher percentages of beta-like cells in vitro, but their potential in vivo remains to be elucidated. Here, we demonstrate that the GP2-enriched-PPs give rise to all pancreatic cells in vivo, including functional beta-like cells. Remarkably, GP2 enrichment eliminates the risk of teratomas, which establishes GP2 sorting as an effective method for PP purification and safe pancreatic differentiation.

Topics: Cell Differentiation; Endoderm; Humans; Insulin-Secreting Cells; Pancreas; Pluripotent Stem Cells; Teratoma

PubMed: 35364010
DOI: 10.1016/j.stemcr.2022.03.004

Authors: Yoonhyuk Jang, Kwanghoon Lee, Cheol Lee...

INTRODUCTION

Ovarian teratoma is a common occurrence in patients with anti-NMDA receptor encephalitis (NMDARe), and its removal is crucial for a favorable prognosis. However, the initial pathogenesis of autoimmunity in the encephalitic teratoma remains unclear. In this study, we aimed to investigate the genomic landscape and microscopic findings by comparing NMDARe-associated teratomas and non-encephalitic control teratomas.

MATERIALS AND METHODS

A prospective consecutive cohort of 84 patients with NMDARe was recruited from January 2014 to April 2020, and among them, patients who received teratoma removal surgery at Seoul National University Hospital were enrolled. We conducted a comparison of whole-exome sequencing data and pathologic findings between NMDARe-associated teratomas and control teratomas.

RESULTS

We found 18 NMDARe-associated teratomas from 15 patients and compared them with 17 non-encephalitic control teratomas. Interestingly, the genomic analysis revealed no significant differences in mutations between encephalitic and non-encephalitic teratomas. Pathologic analysis showed no discrepancies in terms of the presence of neuronal tissue and lymphocytic infiltration between the encephalitic teratomas (n = 14) and non-encephalitic teratomas (n = 18). However, rituximab-naïve encephalitic teratomas exhibited a higher frequency of germinal center formation compared to non-encephalitic teratomas (80% vs. 16.7%, P = 0.017). Additionally, rituximab-treated encephalitic teratomas demonstrated a reduced number of CD20 cells and germinal centers in comparison to rituximab-naïve encephalitic teratomas (P = 0.048 and 0.023, respectively).

DISCUSSION

These results suggest that the initiation of immunopathogenesis in NMDARe-associated teratoma is not primarily attributed to intrinsic tumor mutations, but rather to immune factors present in the encephalitic patient group, ultimately leading to germinal center formation within the teratoma.

Topics: Female; Humans; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Rituximab; Prospective Studies; Ovarian Neoplasms; Teratoma; Receptors, N-Methyl-D-Aspartate; Genomics

PubMed: 37986706
DOI: 10.1002/acn3.51948

Authors: Jinxiu Li, Lixin Fu, Yunpan Li...

Teratoma, due to its remarkable ability to differentiate into multiple cell lineages, is a valuable model for studying human embryonic development. The similarity of the gene expression and chromatin accessibility patterns in these cells to those observed in vivo further underscores its potential as a research tool. Notably, teratomas derived from human naïve (pre-implantation epiblast-like) pluripotent stem cells (PSCs) have larger embryonic cell diversity and contain extraembryonic lineages, making them more suitable to study developmental processes. However, the cell type-specific epigenetic profiles of naïve PSC teratomas have not been yet characterized. Using single-cell assay for transposase-accessible chromatin sequencing (scATAC-seq), we analyzed 66,384 cell profiles from five teratomas derived from human naïve PSCs and their post-implantation epiblast-like (primed) counterparts. We observed 17 distinct cell types from both embryonic and extraembryonic lineages, resembling the corresponding cell types in human fetal tissues. Additionally, we identified key transcription factors specific to different cell types. Our dataset provides a resource for investigating gene regulatory programs in a relevant model of human embryonic development.

Topics: Humans; Cell Lineage; Chromatin; Pluripotent Stem Cells; Single-Cell Analysis; Teratoma; Transcription Factors

PubMed: 38956385
DOI: 10.1038/s41597-024-03558-9

Authors: Lishuai Wang, Tongxiang Li, Min Gong...

BACKGROUND

Intramedullary cervical spinal cord teratomas (ICTs) are extremely rare, and diagnosis and treatment are challenging. We conducted a systematic review of the literature on the diagnosis and treatment of ICT.

METHOD

The presentation, imaging manifestations, diagnosis, management, surgery findings, prognosis and histology were reviewed following Preferred Reporting Items for Systematic Reviews and Meta Analyses guidelines. English-language studies and case reports published from inception to 2018 were retrieved. Data on presentation, imaging characteristics, diagnosis, management, surgery findings, outcomes, and histopathology were extracted.

RESULTS

Ten articles involving 10 patients were selected. The lesions were located in the upper cervical vertebrae in 4 cases, whereas in the lower cervical vertebrae in the remaining 6 cases. In 5 cases, the lesions were located on the dorsal side of the spinal cord, and in the center of the spinal cord in the remaining 5 cases. Quadriparesis (60%), paraplegia (30%), monoplegia (10%), and neck pain (50%) were the main presentations. The lesion appeared as a intramedullary heterogeneous signal during an MRI scan, and the lesion signal would be partially enhanced after the contrast medium was applied. All patients underwent surgical intervention through a posterior approach. Neurological function improved postoperatively in all patients. Two patients with pathology confirmed to be immature teratomas experienced recurrence.

CONCLUSION

ICTs are extremely rare entities that are mainly located in the center or dorsal part of the spinal cord which mainly manifest as quadriplegia and neck pain. MRI is a useful modality that provides diagnostic clues. Surgery from a posterior approach is the primary treatment, and the effect of adjuvant therapy remains uncertain. The prognosis is mainly related to the pathological nature of the tumor and not the method of resection.

Topics: Cervical Vertebrae; Humans; Spinal Cord Neoplasms; Teratoma

PubMed: 32358400
DOI: 10.1097/MD.0000000000020107