Atypical teratoid/rhabdoid tumor in the sella turcica of an elderly female with a distinct vascular pattern and genetic alterations

Nobusawa, Sumihito; Nakata, Satoshi; Hirato, Junko; Kawashima, Takahiro; Sato, Koji; Fujimaki, Hiroya; Okura, Naoki; Ikota, Hayato; Yokoo, Hideaki

doi:10.1007/s00428-016-2017-7

Cited by 16 publications

(12 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We describe a novel case of sellar ATRT. To the best of our knowledge, only 16 cases of ATRT at this site were reported before . Similar to previous cases, this one occurred in an adult female patient.…”

Section: Discussionsupporting

confidence: 83%

“…It is also interesting that all sellar ATRTs have been described in adults and never in adolescents or in children. Indeed, the age of patients with sellar ATRT ranges between 20 and 69 years, with a mean age of 44, 12 years and a median age of 44 years . The causes underlying the association between sellar location and female gender or adulthood have not been yet clarified.…”

Section: Discussionmentioning

confidence: 99%

“…In particular, adult ATRTs are generally located in the cerebral hemispheresand rarely in the spine or pineal gland . However, a total of 16 adult ATRTs have been observed in the sellar region . Of note, sellar ATRT seems to be a distinct entity because of its peculiar clinico‐pathological and molecular characteristics.…”

Section: Introductionmentioning

confidence: 99%

“…Of note, sellar ATRT seems to be a distinct entity because of its peculiar clinico‐pathological and molecular characteristics. Indeed, it has not been reported in children, in adolescents (Table ) or in male patients (Table ) . In addition, sellar ATRT has high frequency of mutations in exon 2 or 4, different SMARCB1 mutations in each allele or splice‐site mutations (Table ), while pediatric ATRT is mainly characterized by mutations in exons 5 and 9 of SMARCB1 gene …”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description

et al. 2017

View full text Add to dashboard Cite

Atypical teratoid rhabdoid tumor (ATRT) is an aggressive tumor of the CNS and characteristically occurs in the pediatric age. In adulthood, ATRT is rare and it is mainly localized in the cerebral hemispheres. Only 16 cases of ATRT have been described in the sellar region up to now. Interestingly, all sellar ATRTs occurred in adult female patients. Herein we report a novel case of sellar ATRT in a patient with previous history of lactotroph adenoma. Similar to other sellar ATRTs, this case occurred in a female adult patient. At histological examination, it was characterized by a small number of rhabdoid cells. In addition, it did not have homozygous deletion of SMARCB1 gene, but it rather showed a frameshift mutation at exon 4 of SMARCB1 which had not been previously found in ATRT. Clinico-pathological and molecular findings observed in this case confirm previous evidence that sellar ATRT seems to be a distinct entity. Association with previous prolactin-secreting pituitary adenoma is discussed.

show abstract

Section: Discussionsupporting

confidence: 83%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description

et al. 2017

View full text Add to dashboard Cite

show abstract

“…It has previously been suggested that sellar AT/RT represent a different subgroup given its distinct clinicopathological and genetic features ( 12 , 5 ). Sellar AT/RTs were reported to be found almost exclusively in females and not in the pediatric population ( 5 , 15 ). Our study found 21 of 23 cases of sellar AT/RT to occur in female patients, suggesting, although much less common, they can occur in males as well.…”

Section: Discussionmentioning

confidence: 99%

A Systematic Review of Atypical Teratoid Rhabdoid Tumor in Adults

et al. 2018

View full text Add to dashboard Cite

Background: Atypical teratoid/rhabdoid tumor in adults is a relatively rare malignant neoplasm. It is characterized by the presence of rhabdoid cells in combination with loss of either the INI1 or BRG1protein from the tumor cells.Methods: A systematic review was conducted using MEDLINE using the terms “atypical teratoid rhabdoid tumor” AND “adult.” The systematic review was supplemented with relevant articles from the references. Cases were included if the pathology was confirmed by loss of INI1 or BRG1. We included a case from our institution. The dataset was analyzed using descriptive statistics and log-rank test.Results: A total of 50 cases from 29 articles were included in this study. The average age at diagnosis was 36.7 years. The most common locations reported are the sellar region and cerebral hemispheres (without deep gray matter involvement). Of the 50 cases, 14 were reported to show evidence of dissemination. The average overall survival was 20 months. There was a significant difference in survival between the adjuvant therapy groups (p = < 0.0001).Conclusion: Atypical teratoid rhabdoid tumor of the central nervous system in adults is a rare neoplasm associated with a poor prognosis in a majority of patients. The treatment and clinical course are highly variable, and it remains unclear which factors impact prognosis.

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

Atypical teratoid/rhabdoid tumor in the sella turcica of an elderly female with a distinct vascular pattern and genetic alterations

Cited by 16 publications

References 16 publications

Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description

Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description

A Systematic Review of Atypical Teratoid Rhabdoid Tumor in Adults

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

Contact Info

Product

Resources

About