Atypical Teratoid/Rhabdoid Tumor Originated From the Trigeminal Nerve in a Young Male Adult: Case Report and Review of the Literature

Chen, Fuxiang; Mei, Wenzhong; Lu, W. T.; Zeng, Tiefa; Kang, Dezhi; Wu, Xiyue; You, Hua

doi:10.3389/fneur.2020.00265

Cited by 4 publications

(1 citation statement)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…For instance, mismigrated PGCs were found along nerve branches, resulting in human germ cell tumors that also occur at extragonadal sites, mostly along the midline axis of the body, including the brain 24,40 or in the head and neck region 62,63 . Similar to these tumors, RT of the MYC subgroup occur in close proximity to nerve branches like the trigeminal nerve (also described in human case reports), at nerve cords lateral of the cerebellum, the spine [64][65][66] and in the soft tissue of the head and neck region 67 , in human as well as our mouse models. Supporting our hypothesis, we found that the Dnd1 gene, which is specifically expressed by migratory PGCs and known as a major determinant of cell identity guiding cells toward the genital ridge 41 , is lost in MYC tumor cells.…”

Section: Discussionsupporting

confidence: 76%

Single-cell transcriptomics identifies potential cells of origin of MYC rhabdoid tumors

et al. 2022

View full text Add to dashboard Cite

Rhabdoid tumors (RT) are rare and highly aggressive pediatric neoplasms. Their epigenetically-driven intertumoral heterogeneity is well described; however, the cellular origin of RT remains an enigma. Here, we establish and characterize different genetically engineered mouse models driven under the control of distinct promoters and being active in early progenitor cell types with diverse embryonic onsets. From all models only Sox2-positive progenitor cells give rise to murine RT. Using single-cell analyses, we identify distinct cells of origin for the SHH and MYC subgroups of RT, rooting in early stages of embryogenesis. Intra- and extracranial MYC tumors harbor common genetic programs and potentially originate from fetal primordial germ cells (PGCs). Using PGC specific Smarcb1 knockout mouse models we validate that MYC RT originate from these progenitor cells. We uncover an epigenetic imbalance in MYC tumors compared to PGCs being sustained by epigenetically-driven subpopulations. Importantly, treatments with the DNA demethylating agent decitabine successfully impair tumor growth in vitro and in vivo. In summary, our work sheds light on the origin of RT and supports the clinical relevance of DNA methyltransferase inhibitors against this disease.

show abstract

Section: Discussionsupporting

confidence: 76%

Single-cell transcriptomics identifies potential cells of origin of MYC rhabdoid tumors

et al. 2022

View full text Add to dashboard Cite

show abstract

Atypical teratoid/rhabdoid tumor in adults: a systematic review of the literature with meta-analysis and additional reports of 4 cases

et al. 2022

View full text Add to dashboard Cite

Introduction Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive embryonal CNS neoplasm, characterized by inactivation of SMARCB1 (INI1) or rarely of SMARCA4 (BRG1). While it is predominantly a childhood tumor, AT/RT is rare in adults. Methods We provide a comprehensive systematic review of literature with meta-analysis; 92 adult cases were found from 74 articles. We additionally present 4 cases of adult AT/RTs (age ranging from 19 to 29 years), located to cerebellum in 2 cases, to ponto-cerebellar angle in 1 case and to spinal cord in the remaining case. Results Microscopic features of our 4 cases showed a highly cellular tumor with rhabdoid morphology and high mitotic activity. All tumor cells lacked nuclear SMARCB1/INI1 protein expression. In case no. 3 we also performed methylation profiling which clustered the tumor with pediatric AT/RT-MYC subgroup. Prognosis remains poor in both pediatric and adult population with a median overall survival of 11 months. Our review demonstrated median overall survival of 15 months among the adult populations. However, consistent with a recent review, adult AT/RT seems to have highly variable prognosis and some patients reach long term survival with 22.9% of 5-year survival without evidence of disease and mean follow up time of 35.9 months (SD = 36.5). 27.1% of dissemination was also reported among the adult population. Conclusions Adult AT/RTs predominantly arise in female patients and in supratentorial location. Midline structures, including the sellar region, are the most affected sites, especially among females aged > 40 years. Male gender is more prevalent between the age of 18 and 40 years and more frequently associated with non-midline tumors. Factors significantly associated with better prognosis are patient's age (< 40 years), combined radio-chemotherapy adjuvant approach and Ki-67 score < 40%.

show abstract

Actualización de tumores embrionarios, no meduloblastomas: lo que el neurorradiólogo debe saber

Maldonado,

Guarnizo,

Geraldo

et al. 2024

Radiología

View full text Add to dashboard Cite

Atypical Teratoid/Rhabdoid Tumor Originated From the Trigeminal Nerve in a Young Male Adult: Case Report and Review of the Literature

Cited by 4 publications

References 29 publications

Single-cell transcriptomics identifies potential cells of origin of MYC rhabdoid tumors

Single-cell transcriptomics identifies potential cells of origin of MYC rhabdoid tumors

Atypical teratoid/rhabdoid tumor in adults: a systematic review of the literature with meta-analysis and additional reports of 4 cases

Actualización de tumores embrionarios, no meduloblastomas: lo que el neurorradiólogo debe saber

Contact Info

Product

Resources

About