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Frontiers in Oncology 2022Intracranial 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...
BACKGROUND
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.
METHODS
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.
RESULTS
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 and only appeared in immature teratoma (43% and 36%, respectively), but not in mature teratoma ( = 0.051 and 0.115, respectively). Prognostic analysis showed that TP53 mutations might be associated with poor prognosis of intracranial teratomas patients.
CONCLUSIONS
Our study revealed the genetic characteristics of intracranial teratoma which might be valuable for guiding future targeted therapies.
PubMed: 36457486
DOI: 10.3389/fonc.2022.1013722 -
Journal of Neurosurgery. Case Lessons Aug 2022Central nervous system (CNS) mature teratoma is a rare disease with symptoms that can vary according to tumor location. Most lesions are benign; rarely, malignancy can...
BACKGROUND
Central nervous system (CNS) mature teratoma is a rare disease with symptoms that can vary according to tumor location. Most lesions are benign; rarely, malignancy can develop in any of the somatic components. Elevated levels of tumor markers such as α-fetoprotein and β-human chorionic gonadotropin are not usually found in patients with CNS mature teratoma, and no reports have described an association with carbohydrate antigen 19-9 (CA19-9).
OBSERVATIONS
A 64-year-old woman with headache was found to have a mass lesion in the anterior cranial fossa. Magnetic resonance imaging of the brain suggested a mature teratoma. Serum and cerebrospinal fluid (CSF) tests showed significant CA19-9 elevations (2,770 U/mL and 4,387 U/mL, respectively). Other examinations, including whole-body 18F-fluorodeoxyglucose positron emission tomography, did not detect the origin of elevated CA19-9, suggesting that the high CA19-9 levels were caused by intracranial tumor. The patient underwent tumor removal. The histopathological diagnosis was mature teratoma with positive CA19-9 staining. CA19-9 levels in serum and CSF decreased significantly after tumor removal.
LESSONS
The histopathological findings and postoperative decreased CA19-9 levels established the diagnosis of CA19-9-producing CNS mature teratoma. CNS mature teratoma can cause elevations in CA19-9 in cases with absence of neoplasms in the trunk.
PubMed: 36088553
DOI: 10.3171/CASE22230 -
World Journal of Clinical Cases Jan 2022Mature teratoma composed of all three basic germ cell layers of the head and neck is a rare disease. Teratomas involving the temporal bone are particularly scarce.
BACKGROUND
Mature teratoma composed of all three basic germ cell layers of the head and neck is a rare disease. Teratomas involving the temporal bone are particularly scarce.
CASE SUMMARY
A 48-year-old male patient with a history of chronic otitis of the left ear from infancy, for which he had been operated on twice, was referred to our hospital for chronic otitis, cholesteatoma and a middle ear mass. Computed tomography (CT) scan and magnetic resonance imaging (MRI) revealed a eustachian tube teratoma, in which the anterior lower part and posterior upper part were connected by a thin membranaceous tissue. The mass was removed completely under general anesthesia by mastoidectomy. As of last follow-up (2 years post-surgery), the disease had not relapsed.
CONCLUSION
Pre-operative CT and MRI are necessary for eustachian tube teratoma. Complete surgical resection provided excellent prognosis.
PubMed: 35071534
DOI: 10.12998/wjcc.v10.i1.316 -
Diagnostic and Interventional Imaging 2021The purpose of this study was to determine the computed tomography (CT) and magnetic resonance imaging (MRI) characteristics of ovarian mature teratoma in patients with...
PURPOSE
The purpose of this study was to determine the computed tomography (CT) and magnetic resonance imaging (MRI) characteristics of ovarian mature teratoma in patients with anti-N-methyl-d-aspartate receptor encephalitis (NMDAR-E).
MATERIALS AND METHODS
A total of 125 women (mean age, 40.9±17.8 [SD] years; age range: 12-85 years) with 146 histopathologically or radiologically proven ovarian mature teratomas who underwent preoperative CT and MRI examinations were retrospectively included. Eight patients with 11 teratomas had NMDAR-E, whereas 117 patients with 135 teratomas did not have NMDAR-E. CT and MRI examinations were retrospectively reviewed and teratomas in patients with NMDAR-E were compared to those in patients without NMDAR-E. Comparisons were performed using Mann-Whitney U test or Fisher exact test.
RESULTS
In patients with NMDAR-E, maximum diameter of teratomas (26.1±9.3 [SD] mm), prevalence of teeth/calcification (36%) and rate of occupation by fat components (26%) were lower than those in patients without NMDAR-E (67.0±37.6 [SD] mm [P<0.01]; 75% [P<0.05]; and 65%[P<0.01], respectively). More than 75% of space was occupied by fat components in 76/135 teratomas (56%) in patients without NMDAR-E, whereas this was not observed in any teratoma in patients without NMDAR-E.
CONCLUSION
By comparison with teratomas in patients without NMDAR-E, teratomas in patients with NMDAR-E are smaller, have few teeth/calcification, and the amount of space occupied by fat components is smaller.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Child; Female; Humans; Magnetic Resonance Imaging; Middle Aged; Ovarian Neoplasms; Retrospective Studies; Teratoma; Tomography, X-Ray Computed; Young Adult
PubMed: 33785312
DOI: 10.1016/j.diii.2021.02.010 -
Revue Medicale de Liege Sep 2020We report the case of a 28-year-old male admitted to the emergency department for generalized seizure. A brain computed tomography (CT) revealed a ruptured dermoid cyst...
We report the case of a 28-year-old male admitted to the emergency department for generalized seizure. A brain computed tomography (CT) revealed a ruptured dermoid cyst of the supra-tentorial stage (multiple drop-shaped fat structures were found in the subarachnoid space, basal cisterns and in ventricular system). An additional magnetic resonance imaging (MRI) was conducted to confirm the CT findings.
Topics: Adult; Dermoid Cyst; Humans; Magnetic Resonance Imaging; Male; Rupture, Spontaneous; Subarachnoid Space; Tomography, X-Ray Computed
PubMed: 32909404
DOI: No ID Found -
Journal of the Turkish German... May 2021Growing teratoma syndrome (GTS) occurs during post-treatment observation of ovarian malignant germ cell tumors. The characteristic features of this syndrome are normal...
Growing teratoma syndrome (GTS) occurs during post-treatment observation of ovarian malignant germ cell tumors. The characteristic features of this syndrome are normal tumor marker levels and evident tumoral mass or implants on imaging studies. We report a case of GTS in a 22-year-old woman with a malignant germ cell tumor. After staging surgery and chemotherapy, computed tomography showed peritoneal implants. Laparoscopy was planned to exclude malignant recurrence. During laparoscopy, smooth and pink-colored lesions were seen at the lateral pelvic wall. Histopathologic evaluation reported mature teratoma tissue with extensive mature glial components. GTS is not a malignant condition and the benefit of radical surgical intervention in cases without mass-related complication is not proven. GTS should be kept in mind after primary treatment of ovarian immature teratoma.
PubMed: 32517427
DOI: 10.4274/jtgga.galenos.2020.2019.0034 -
Indian Journal of Pathology &... 2022To investigate the clinicopathological features of mature teratoma with malignant transformation.
PURPOSE
To investigate the clinicopathological features of mature teratoma with malignant transformation.
METHODS
Retrospectively analysis of 1179 cases mature teratoma was done from August 1999 to December 2019 in Institution. 14 cases of mature teratoma with malignant transformation were discussed mainly for the pathological characteristics and clinical manifestations.
RESULTS
4 of them were less than 40 years old. All but one occurred in the ovaries, and the one was in the left anterior mediastinum which was the only male. The clinical manifestations of the patients were atypical. Imaging showed cystic solid mass. Surgery was performed. Polypoid mass, solid nodule and thickened area of cyst wall can be seen on the section of tumor. Pathological results show that there were 5 cases of squamous cell carcinoma, 3 cases of carcinoid, 2 cases of serous carcinoma and 2 cases of thyroid papillary carcinoma, 1 case of carcinosarcoma and 1 case of strumal carcinoid. Two cases of squamous cell carcinoma had pelvic and abdominal metastasis. Immunohistochemistry of case 14 showed that AE1/AE3, CD56, SYN, NSE, PSAP, CDX2 were positive in carcinoid. EMA and CK20 were positive in mucinous glands around carcinoid. Calretinin and inhibin were positive in the mesenchyme adjacent to intestinal mucinous gland.
CONCLUSIONS
Teratoma with malignant transformation is a rare malignancy, although teratoma is a common germ cell tumor. And it's more common in patients over 40 years, especially those patients who were in menopause. Squamous cell carcinoma is the most common type and prone to metastasis. Strumal carcinoid was well-defined, but as an endocrine tumor, it may cause a series of digestive, respiratory or hormonal disorders. Therefore, the mature teratomas should be removed in time after detection.
Topics: Adult; Carcinoid Tumor; Carcinoma, Squamous Cell; Cell Transformation, Neoplastic; Dermoid Cyst; Female; Humans; Male; Ovarian Neoplasms; Retrospective Studies; Struma Ovarii; Teratoma
PubMed: 35435373
DOI: 10.4103/IJPM.IJPM_828_20 -
Korean Journal of Radiology Oct 2021Metastatic mature teratoma is a common radiologic and histopathologic finding after chemotherapy for metastatic non-seminomatous germ cell tumors. The leading theory for... (Review)
Review
Metastatic mature teratoma is a common radiologic and histopathologic finding after chemotherapy for metastatic non-seminomatous germ cell tumors. The leading theory for these residual tumors is the selective chemotherapy resistance of teratomas versus the high chemotherapy sensitivity of the embryonal components. Growing teratoma syndrome is a relatively rare phenomenon defined as an enlarging residual mass histologically proven to be a mature teratoma in the setting of normal serum tumor markers. Metastatic mature teratomas should be resected because of their malignant potential and occasional progression to growing teratoma syndrome with the invasion of the surrounding structures. CT is the preferred imaging modality for post-chemotherapy surveillance and should cover all sites of potential metastatic disease. This article reviews the clinical, pathologic, and multimodality imaging features of metastatic mature teratomas in patients with primary testicular non-seminomatous germ cell tumors.
Topics: Humans; Male; Neoplasm, Residual; Neoplasms, Germ Cell and Embryonal; Syndrome; Teratoma; Testicular Neoplasms
PubMed: 34402242
DOI: 10.3348/kjr.2020.1391 -
Surgical Neurology International 2022Teratomas are a rare subgroup of CNS germ cell tumors and are histologically classified into mature teratomas, immature teratomas, and teratomas with malignant...
BACKGROUND
Teratomas are a rare subgroup of CNS germ cell tumors and are histologically classified into mature teratomas, immature teratomas, and teratomas with malignant transformation. CNS teratomas are infrequently found in the posterior fossa and pure mature teratomas of posterior fossa are rare especially in adults. We present a case of a young adult female with a mature teratoma in the cisterna magna.
CASE DESCRIPTION
A 26-year-old female presented to the neurosurgery clinic with headache, nausea and vomiting for the past 1 year. She was found to have dysdiadochokinesia on neurological examination. Brain magnetic resonance imaging scan showed a-well defined lesion, hyperintense on T1 and hypointense on T2-weighted sequences located within the cisterna magna. She underwent a suboccipital craniotomy with resection of lesion. Histopathology confirmed the diagnosis of mature cystic teratoma.
CONCLUSION
Mature teratomas located in the posterior fossa among adults are rare in the literature. We report the second case of mature teratoma in the cisterna magna of an adult patient.
PubMed: 36324914
DOI: 10.25259/SNI_628_2022