Primary Teratoma Research Articles

Aneuploid embryonic stem cells drive teratoma metastasis

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

Renal Artery Spasm: A Cause of Acute Kidney Injury Subsequent to Abdominal Surgery for Primary Mature Renal Teratoma for CME credit June 2022

Renal Artery Spasm: A Cause of Acute Kidney Injury Subsequent to Abdominal Surgery for Primary Mature Renal Teratoma for CME credit June 2022

PD51-03 MOLECULAR CHARACTERISTICS OF METASTATIC TERATOMAS AND MATCHED PRIMARY TESTICULAR GERM CELL TUMORS

You have accessJournal of UrologyCME1 May 2022PD51-03 MOLECULAR CHARACTERISTICS OF METASTATIC TERATOMAS AND MATCHED PRIMARY TESTICULAR GERM CELL TUMORS Anna Savelyeva, Feng Wang, Lei Guo, John Lafin, Liwei Jia, Kirill Medvedev, Cheryl Lewis, Payal Kapur, Vitaly Margulis, Solomon Woldu, Xiaosong Meng, Nick Grishin, James Amatruda, Lin Xu, and Aditya Bagrodia Anna SavelyevaAnna Savelyeva More articles by this author , Feng WangFeng Wang More articles by this author , Lei GuoLei Guo More articles by this author , John LafinJohn Lafin More articles by this author , Liwei JiaLiwei Jia More articles by this author , Kirill MedvedevKirill Medvedev More articles by this author , Cheryl LewisCheryl Lewis More articles by this author , Payal KapurPayal Kapur More articles by this author , Vitaly MargulisVitaly Margulis More articles by this author , Solomon WolduSolomon Woldu More articles by this author , Xiaosong MengXiaosong Meng More articles by this author , Nick GrishinNick Grishin More articles by this author , James AmatrudaJames Amatruda More articles by this author , Lin XuLin Xu More articles by this author , and Aditya BagrodiaAditya Bagrodia More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000002622.03AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Metastatic teratoma (MT) is a subtype of germ cell tumor (GCT) characterized by resistance to platinum-based chemotherapy. MT is treated via complete surgical excision, using retroperitoneal lymph node dissection (RPLND), following chemotherapy. Molecular characterization of post-chemotherapy MTs along with pre-chemotherapy testicular primary tumors could reveal 1) the mechanisms of MT development and differentiation, 2) molecular changes associated with platinum-resistance, 3) novel therapeutic options for patients with unresectable MTs. METHODS: We performed whole exome and transcriptome sequencing for 16 primary germ cell tumors and 18 metastatic teratomas, 11 were matched tumor/metastasis pairs. All MTs in our cohort were collected after induction platinum-based chemotherapy. We used VarScan for SNV analysis and PennCNV to detect genomic copy-number variations (CNVs). Metastatic Teratomas were compared to matched primary tumors and primary teratomas characterized by TCGA. RESULTS: Our analysis revealed that metastatic teratomas as well as their tumors of origin had low tumor mutation burden (0.65 and 0.47 accordingly). Amongst 583 SNVs detected in the study cohort, only two (KRAS p.Gly12Asp and KRAS p.Gly12Val) were previously described as oncogenic. Analysis of SNVs in proteins playing key roles in oncogenic signaling showed that TP53 and Ras pathways were the most affected in metastatic teratomas. The majority of metastatic teratomas possess gain of 3p11.1 and loss of 10q26.3, 16p11.2, 19p13.2, 19q12 and 22q12.3 loci. Within 3p11.1 we did not identify any well-known oncodrivers. However, 5 chromosomal loci with lost heterozygosity contained 16 previously annotated tumor suppressor genes: HTRA1, EBF3, FUS, PRKCB, NUPR1, PYCARD, ZNF668, ARMC5, YPEL3, DNMT1, DNAJB1, SMARCA4, GADD45GIP1, MIR199A1, TIMP3, TMPRSS6. Amongst those, GADD45GIP1 inhibition (growth arrest and DNA-damage-inducible, gamma interacting protein 1) is associated with cisplatin resistance development through mechanism of cellular senescence. CONCLUSIONS: Metastatic teratoma in our cohort is characterized by low tumor mutational burden and several recurring copy number changes. Molecular insight of metastatic teratoma may inform disease biology and treatment. Source of Funding: Dedman Scholar Award © 2022 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 207Issue Supplement 5May 2022Page: e843 Advertisement Copyright & Permissions© 2022 by American Urological Association Education and Research, Inc.MetricsAuthor Information Anna Savelyeva More articles by this author Feng Wang More articles by this author Lei Guo More articles by this author John Lafin More articles by this author Liwei Jia More articles by this author Kirill Medvedev More articles by this author Cheryl Lewis More articles by this author Payal Kapur More articles by this author Vitaly Margulis More articles by this author Solomon Woldu More articles by this author Xiaosong Meng More articles by this author Nick Grishin More articles by this author James Amatruda More articles by this author Lin Xu More articles by this author Aditya Bagrodia More articles by this author Expand All Advertisement PDF DownloadLoading ...

Renal Artery Spasm: A Cause of Acute Kidney Injury Subsequent to Abdominal Surgery for Primary Mature Renal Teratoma

An infant female presented from an outside hospital with an abdominal mass, identified as renal teratoma that suffered acute kidney injury (AKI) after surgery. Teratomas are uncommon neoplasms with the kidney being the rarest in location when considering less than 5% of teratomas occur in the abdomen. In this contribution, a case is described of spasm in the left renal artery causing AKI following abdominal surgery for primary mature renal teratoma. Renal artery spasm was detected by duplex ultrasound scan as was resolution of the spasm within 2 days of initial AKI presentation.

Concurrent Primary Follicular Lymphoma and a Mature Cystic Teratoma of the Ovary: A Case Report and Review of Literature

Primary lymphoma concurrent with teratoma of the ovary is exceedingly rare. Based on our review of the literature, there are only 8 case reports describing concurrent primary diffuse large B-cell lymphoma and teratoma. Here, we report the first case of primary follicular lymphoma concurrent with mature ovarian cystic teratoma, which, to our knowledge, has not been described in the literature.

Molecular analysis of primary testicular germ cell tumor and matched metastatic teratomas.

425 Background: Metastastic teratoma (MT) is a unique germ cell tumor (GCT) subhistology characterized by resistance to platinum-based chemotherapy. Metastatic teratoma requires complete surgical excision, usually via retroperitoneal lymph node dissection (RPLND), following chemotherapy as a part of multidisciplinary GCT care. Molecular characterization of post-chemotherapy metastatic teratoma along with companion pre-chemotherapy testicular primary tumors could inform 1) the origin and differentiation site of metastatic teratomas, 2) mechanisms of platinum-resistance, 3) novel therapeutic options for patients with unresectable teratomas. Methods: We performed integrated molecular analysis for 16 primary germ cell tumors and 18 metastatic teratomas, 11 were matched tumor/metastasis pairs. All teratomas in our cohort were collected after induction platinum-based chemotherapy. In addition to SNV analysis, we conducted a chromosomal copy number gain and loss analysis for selected teratomas, matched primary tumors and primary teratomas from the TCGA. Results: Metastatic teratomas as well as their tumors of origin had low tumor mutation burden (0.65 and 0.47 accordingly). Amongst 583 SNVs detected in the study cohort, only two (KRAS p.Gly12Asp and KRAS p.Gly12Val) were previously described as oncogenic. Analysis of SNVs in proteins playing key roles in oncogenic signaling [1] showed that TP53 and Ras pathways were the most affected in metastatic teratomas. The majority of metastatic teratomas possess gain of 3p11.1 and loss of 10q26.3, 16p11.2, 19p13.2, 19q12 and 22q12.3 loci. Within 3p11.1 we did not identify any previously described oncodrivers. However, 5 chromosomal loci with lost heterozygosity contained 16 previously annotated tumor suppressor genes (15 protein coding and 1 microRNA, MIR199A1). Amongst those, GADD45GIP1 inhibition (growth arrest and DNA-damage-inducible, gamma interacting protein 1) is known for playing a role in cisplatin resistance through mechanism of cellular senescence [2]. Conclusions: Metastatic teratoma in our cohort is characterized by low tumor mutational burden, recurring copy number changes, and lack of recurring SNVs. Molecular insight of teratoma may inform disease biology and treatment.

Single nucleotide polymorphism array and cytogenetic analyses of ovarian teratomas in children.

Teratomas are the most common tumors in the ovary during childhood. Previous studies suggested that they may be derived from germ cells at any developmental stage from premeiotic oogonia through meiotic oocytes to post-meiotic ova. The majority of mature teratomas reveal normal karyotypes and immature teratomas show higher frequency of chromosomal abnormalities. We analyzed fresh tissue samples from 25 primary ovarian teratomas and three extraovarian deposits using whole genome single nucleotide polymorphism (SNP) array and karyotype. SNP array detected five patterns of copy neutral loss of heterozygosity (CN-LOH): failure of meiosis I (type I) in 12 tumors, failure of meiosis II (type II) in six tumors, endoreduplication of a haploid ovum (type III) in two tumors, premeiotic error (type IV) in four tumors, and both meiotic I and meiotic II errors in one tumor (type V). Three tumors with type I error had a single chromosome showing meiotic II error, and two tumors with type II error had a single chromosome showing premature sister-chromatid separation in meiosis I. Lack of recombination in multiple chromosomes in meiosis I were common, chromosomes 17, 7, 8, 21, and 22 were most commonly involved. Abnormal karyotypes were observed in four teratomas including +3, del(3q), +7, +8, +12, and i(18q). The extraovarian deposits revealed the same CN-LOH pattern as the primary teratoma. In summary, SNP array reveals the origin of ovarian teratoma and we propose a new mechanism that consecutive meiotic I and II errors occur frequently in ovarian teratomas.

Primary Thyroid Teratoma – a rare diagnosis

Primary Thyroid Teratoma – a rare diagnosis

Primary mature teratoma of the liver with malignant transformation: a case report and literature review

患者男性，59岁，汉族，河北人。因肝占位就诊于当地医院，考虑肝包虫病，来新疆维吾尔自治区人民医院诊治。无包虫疫区生活史，包虫抗体检查均阴性。腹部CT诊断：肝内巨大混杂密度占位：畸胎瘤？包虫？患者行右半肝切除术。术后大体标本可见成熟毛发、脂肪、软骨和骨骼等，病理诊断肝成熟型畸胎瘤伴恶变，成分为鳞状细胞癌及腺癌。

Mature Cystic Teratoma of the Suprasternal Fossa in an Adult: Report of Case

Teratomas have been reported to occur in multiple organ regions, and are less common in non-gonadal regions, such as the neck and chest, than in gonadal and midline regions of the body, such as ovaries and testis. Cases have been reported of a large teratoma of the anterior mediastinum extending to the neck, causing symptoms such as dyspnea, which can be quickly detected by Ultrasound, and patients can be quickly treated. In adults, primary teratoma at the suprasternal foss that not accumulate thyroid gland upward and not invade the mediastinum are rare, usually have no obvious clinical symptoms and are found in most patients by chance. In this literature, we report a rare case of mature cystic teratoma in the suprasternal fossa of a 33-year-old male. Preoperative ultrasonography showed a superior sternal fossa tumor with less calcification and more adipose tissue. The final pathologic diagnosis was mature cystic teratoma through open surgery of the suprasternal neck incision. The patient was followed up for 9 months and there was no recurrence. We believe that the suprasternal notch approach is a safe and effective method for the treatment of mature teratoma without protruding into the superior mediastinum.

Identification of a giant mediastinal teratoma by echocardiography: A case report

The diagnosis of mediastinal space-occupying lesions largely relies on X-ray and computed tomography. However, thanks to technological progress, transthoracic echocardiography can clearly display the mediastinal structures surrounding the heart and great vessels, thereby improving the detection rate of mediastinal space-occupying lesions. Primary mediastinal teratoma is relatively rare, and removal of giant mediastinal teratoma by thoracoscopic surgery has rarely been reported. Here, we report a case of giant mediastinal teratoma diagnosed by transthoracic echocardiography, which was treated by complete thoracoscopic resection and confirmed by histology.

Giant Calcified Retroperitoneal Teratoma.

Retroperitoneal teratoma involving adrenal gland is a rare entity in adults comprising only 4% of all primary teratomas. These tumors are mainly seen in infants and children. Diagnosis is made by X-ray and CT abdomen showing the presence of large tumor with cystic and calcified walls. Here, we present an interesting image of a 16-year-old girl who presented with large (12 × 10cm) calcified cyst occupying left side of abdomen which was treated successfully by surgical excision.

Primary renal mature cystic teratoma in an infant: A rare case presenting with an acute intestinal obstruction

Primary renal teratomas are uncommon and preoperative diagnosis is difficult. Additional pathologies may be more difficult to diagnosis and may increase morbidity. We are reporting a case of large primary renal cystic teratoma which was presented with acute intestinal obstruction due to congenital band at ileum. Patient was successfully managed by dividing the congenital band and excision of teratoma in toto. Pathologic examination showed evidence for a primary renal mature teratoma. Serum alpha-fetoprotein is a reliable method of assessing recurrence.

Severe Obstruction of the Fetal Right Ventricular Outflow Tract Due to a Primary Teratoma Originating From the Interventricular Septum and Resulting in Neonatal Death

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Retroperitoneal teratoma causing ptosis: A case report.

The present study reports the case of a patient who had undergone unsuccessful hormone therapy for ocular myasthenia gravis 14-years prior to the current presentation. The diagnosis of ocular myasthenia gravis was once again confirmed by a neostigmine test and repeat nerve stimulation study. Computed tomography scans in an external institution revealed a retroperitoneal cystic tumor with calcification above the left adrenal gland. The tumor was removed via a transperitoneal laparoscopic resection and was diagnosed as a mature cystic teratoma upon pathological examination. A teratoma is a common form of germ cell tumor, but primary teratomas of the retroperitoneum are quite rare in the adult population. Post-operative observation of the patient showed resolution of the ptosis and improved movement of the eyeballs. The potential mechanism was unclear, but the patient's teratoma was mature and may have contained myoid cells with antigenicity for anti-acetylcholine receptor (anti-AchR), as has been established in the thymus. Therefore, the anti-AchR antibody may have been involved.

P05.08 * INTRACRANIAL IMMATURE TERATOMA WITH ANAPLASTIC CHANGE: A CASE REPORT

Intracranial immature teratomas are rare tumor that categorized in the intermediate prognosis group. However, little is known about between their pathological feature and prognosis. In this case report, we describe a surgical case of immature teratoma located in the forth ventricle. CASE REPORT: A four months old girl presented with vomiting and poor suckling. Magnetic resonance imaging ( MRI ) revealed a tumor, which located in forth ventricle to cerebellopontine angle, with obstructive hydrocephalus. In blood analysis, there were slightly elevated α-fetoprotein and neuron-specific enolase. She undergone a surgical resection and the ventricle drainage. We confirmed postoperative MRI scan that suggested gross total removal and no evidence of metastatic lesion in the central nerve system. The pathological findings suggested immature teratoma including anaplastic neuroectodermal component and vacuolar cells around nuclear that resembles atypical teratoid/rhabdoid tumor (AT/RT) morphologically, but the immunohistochemical staining of INI-1 was positive. There were no findings of other germ cell tumors. One month after the operation, she had dissemination at brain stem and spinal cord. She died of tumor progression two months after the surgery. In pathological autopsy, it was revealed that this tumor was primary intracranial immature teratoma. We report an aggressive immature teratoma with anaplastic component and include segment like AT/RT.

OP01.06: Severe obstruction of the RVOT due to a primary teratoma originating from the interventricular septum resulting in postnatal death

<scp>OP</scp>01.06: Severe obstruction of the <scp>RVOT</scp> due to a primary teratoma originating from the interventricular septum resulting in postnatal death

Synchronous primary endometrial carcinoma and metastatic malignant melanoma in an ovarian cystic teratoma

Malignant transformation of a benign cystic teratoma of the ovary is only rarely seen. A review of the English literature revealed no reports of a malignant melanoma developing from concurrent primary endometrial carcinoma and ovarian cystic teratoma. We report herein a 54-year-old nulliparous woman who underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy for a pelvic mass and was diagnosed by histopathological examination to have a malignant melanoma developing from concurrent primary endometrial carcinoma and ovarian cystic teratoma. No foci of primary malignant melanoma except for the ovary were found upon clinical examination. The patient received postoperative interferon alpha 2B and radiotherapy. She was still asymptomatic at 12 months of follow-up.

Primary rectal mature teratoma: a case report

This report describes a rare case of primary rectal mature teratoma in a 56-year-old woman. She was referred to the outpatient clinic with a large pedunculated rectal mass, which was found during a regular health check-up. Polypectomy was performed and microscopic findings showed various structures derived from all three germ cell layers. Epidermis, hair follicles, sebaceous glands, eccrine glands, and apocrine sweat glands, with some scattered melanophages and lymphocytes were present as ectodermal derivatives. Smooth muscle fibers, blood vessels, and fibrous and adipose tissues were found as mesodermal derivatives. In addition, thyroid follicles, mucinous glands, and bronchial respiratory epithelium with peribronchial glands were detected as endodermal derivatives. She is healthy and has shown no evidence of recurrence or distant metastasis for 25 months post-surgical resection. Primary rectal teratomas are generally benign and primarily affect women. Therefore, minimally invasive surgical procedures, such as endoscopic polypectomy for a pedunculated polyp and segmentectomy for a larger mass, are satisfactory in most cases. Induction of primary rectal teratomas has been suggested to occur mainly by errors in a single germ cell after the end of meiosis I; in addition, it has also been suggested that the difference in gender incidence may be associated with differences in sex chromosomes between males and females rather than with anatomical proximity between ovary and rectum.

Primary Teratoma in Preperitoneal Space: Case Report and Literature Review

Abstract Background: Huge mature primary teratomas in the preperitoneal space are extremely rare. The condition is easily misdiagnosed as tumors of intraperitoneal and pelvic origins. Case: A 74-year-old female with a huge primary mature teratoma in the preperitoneal space is reported in this article. A 64-slice spiral computed tomography scan showed a huge cystic mass in this patient's bladder and above her uterus. The mass had a clear edge with a size of 11.9×17.6×14.9 cm and a smooth cystic wall. Prior to laparotomy. This case was initially misdiagnosed as an ovarian-derived teratoma. Results: This patient recovered well and was discharged from the hospital 7 days postsurgery. Conclusions: Primary preperitoneal huge teratoma is rare and is easily misdiagnosed as pelvic or abdominal tumors. Imaging examination has important diagnostic significance, but this occurrence should be differentiated from other possible conditions. The best means of treatment is complete surgical excision of the tumor. (J GYNEC...