Immature Teratoma in an Adolescent with Proteus Syndrome; A Novel Association.

Proteus syndrome (PS) is a complex disorder characterized by variable clinical findings of overgrowth and tumor susceptibility. This report presents the first known association between PS and an ovarian germ cell tumor in an adolescent with immature teratoma. A review of the diagnosis of PS and associated tumors is included.

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Mediastinal mixed germ cell tumor: A case report and literature review

Open Medicine ◽

10.1515/med-2021-0293 ◽

2021 ◽

Vol 16 (1) ◽

pp. 892-898

Author(s):

Xianwen Hu ◽

Dandan Li ◽

Jinhua Xia ◽

Pan Wang ◽

Jiong Cai

Keyword(s):

Germ Cell ◽

Germ Cell Tumor ◽

Embryonal Carcinoma ◽

Yolk Sac ◽

Immature Teratoma ◽

Cell Tumor ◽

Yolk Sac Tumor ◽

Medical Attention ◽

Ct Guided ◽

Mixed Germ Cell Tumor

Abstract Mixed germ cell tumor (MGCT) mainly occurs in young women’s ovaries and men’s testicles and rarely occurs outside the gonad. Fewer than 10 cases of mediastinal MGCT are available in PubMed, Embase, and other databases in English, while mediastinal MGCT with three pathological components, such as yolk sac tumor, immature teratoma, and embryonal carcinoma, has not been reported previously. A 12-year-old male sought medical attention for chest discomfort and underwent a computed tomography (CT) scan. A large soft tissue mass occupying most of the left thoracic cavity and mediastinum was detected. A CT-guided biopsy was performed, and an MGCT was diagnosed with pathological components, including yolk sac tumor, immature teratoma, and a small amount of embryonal carcinoma. Due to the large size of the tumor, the patient was treated with an EP regimen (etoposide + cisplatin) and paclitaxel + ifosfamide + cisplatin interstitial chemotherapy. The patient was followed up for 6 months and was alive with the disease. To the best of our knowledge, this is the 10th patient with MGCT in the mediastinum. The incidence of mediastinal MGCT is low, but it should still be considered one of the differential diagnoses of isolated pleural fibroma and neurogenic tumors.

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A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility

Human Molecular Genetics ◽

10.1093/hmg/ddr207 ◽

2011 ◽

Vol 20 (15) ◽

pp. 3109-3117 ◽

Cited By ~ 87

Author(s):

Peter A. Kanetsky ◽

Nandita Mitra ◽

Saran Vardhanabhuti ◽

David J. Vaughn ◽

Mingyao Li ◽

...

Keyword(s):

Germ Cell ◽

Germ Cell Tumor ◽

Testicular Germ Cell Tumor ◽

Cell Tumor ◽

Testicular Germ Cell ◽

Tumor Susceptibility ◽

Independent Locus

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Abstract 1346: Investigation of six testicular germ cell tumor susceptibility genes reveals a parent-of-origin effect inSPRY4.

10.1158/1538-7445.am2013-1346 ◽

2013 ◽

Author(s):

Tom Grotmol ◽

Robert Karlsson ◽

Kristine Andreassen ◽

Wenche Kristiansen ◽

Elin Aschim ◽

...

Keyword(s):

Germ Cell ◽

Germ Cell Tumor ◽

Testicular Germ Cell Tumor ◽

Susceptibility Genes ◽

Cell Tumor ◽

Testicular Germ Cell ◽

Tumor Susceptibility ◽

Parent Of Origin ◽

Origin Effect

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Abstract 2684: Identification of 14 novel genetic loci for testicular germ cell tumor susceptibility

10.1158/1538-7445.sabcs18-2684 ◽

2019 ◽

Author(s):

Louise C. Pyle ◽

John Pluta ◽

Kevin T. Nead ◽

Nandita Mitra ◽

Javier Benitez ◽

...

Keyword(s):

Germ Cell ◽

Germ Cell Tumor ◽

Testicular Germ Cell Tumor ◽

Cell Tumor ◽

Genetic Loci ◽

Testicular Germ Cell ◽

Tumor Susceptibility

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Transgenerational epigenetic effects of the Apobec1 cytidine deaminase deficiency on testicular germ cell tumor susceptibility and embryonic viability

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.1207169109 ◽

2012 ◽

Vol 109 (41) ◽

pp. E2766-E2773 ◽

Cited By ~ 31

Author(s):

V. R. Nelson ◽

J. D. Heaney ◽

P. J. Tesar ◽

N. O. Davidson ◽

J. H. Nadeau

Keyword(s):

Germ Cell ◽

Germ Cell Tumor ◽

Cytidine Deaminase ◽

Testicular Germ Cell Tumor ◽

Cell Tumor ◽

Testicular Germ Cell ◽

Tumor Susceptibility ◽

Epigenetic Effects ◽

Embryonic Viability

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Multi-region exome sequencing of ovarian teratomas reveals 2N near-diploid genomes, paucity of somatic mutations, and extensive allelic imbalances shared across mature, immature, and disseminated components

10.1101/818534 ◽

2019 ◽

Author(s):

Michael B. Heskett ◽

John Z. Sanborn ◽

Christopher Boniface ◽

Benjamin Goode ◽

Jocelyn Chapman ◽

...

Keyword(s):

Germ Cell ◽

Exome Sequencing ◽

Loss Of Heterozygosity ◽

Germ Cell Tumor ◽

Ovarian Tumor ◽

Somatic Mutations ◽

Immature Teratoma ◽

Cell Tumor ◽

Malignant Germ Cell Tumor ◽

The Right

AbstractImmature teratoma is a subtype of malignant germ cell tumor of the ovary that occurs most commonly in the first three decades of life, frequently with bilateral ovarian disease. Despite being the second most common malignant germ cell tumor of the ovary, little is known about its genetic underpinnings. Here we performed multi-region whole exome sequencing to interrogate the genetic zygosity, clonal relationship, DNA copy number, and mutational status of 52 pathologically distinct tumor components from 10 females with ovarian immature teratomas, with bilateral tumors present in 5 cases and peritoneal dissemination in 7 cases. We found that ovarian immature teratomas are genetically characterized by 2N near-diploid genomes with extensive loss of heterozygosity and an absence of genes harboring recurrent somatic mutations or known oncogenic variants. All components within a single ovarian tumor (immature teratoma, mature teratoma with different histologic patterns of differentiation, and yolk sac tumor) were found to harbor an identical pattern of loss of heterozygosity across the genome, indicating a shared clonal origin. In contrast, the 4 analyzed bilateral teratomas showed distinct patterns of zygosity changes in the right versus left sided tumors, indicating independent clonal origins. All disseminated teratoma components within the peritoneum (including gliomatosis peritonei) shared a clonal pattern of loss of heterozygosity with either the right or left primary ovarian tumor. The observed genomic loss of heterozygosity patterns indicate that diverse meiotic errors contribute to the formation of ovarian immature teratomas, with 11 out of the 15 genetically distinct clones determined to result from the failure of meiosis I or II. Overall, these findings suggest that copy-neutral loss of heterozygosity resulting from meiotic abnormalities may be sufficient to generate ovarian immature teratomas from germ cells.

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