Atypical teratoid/rhabdoid tumor of the sellar region in adult women: Is it a sex-related disease?

Nishikawa, Akihiro; Ogiwara, Toshihiro; Nagm, Alhusain; Sakai, Kenji; Okada, Maki; Chiba, Akihiro; Agata, Masahiro; Kaneko, Tomoki; Tamada, Hisashi; Uehara, Takeshi; Hongo, Kazuhiro

doi:10.1016/j.jocn.2017.12.010

Cited by 18 publications

(14 citation statements)

References 23 publications

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“…Approximately 20–25% of cases have homozygous deletions of INI1 ( 43 , 44 ). The majority have a mutation in one allele with a second allele lost due to monosomy 22, deletion of 22q11.2, or an acquired copy number neutral loss heterozygosity ( 43 , 44 ). Reported mutation hotspots are exons 5 and 9 ( 5 , 43 ).…”

Section: Discussionmentioning

confidence: 99%

A Systematic Review of Atypical Teratoid Rhabdoid Tumor in Adults

et al. 2018

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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.

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Section: Discussionmentioning

confidence: 99%

A Systematic Review of Atypical Teratoid Rhabdoid Tumor in Adults

et al. 2018

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“…In contrast, Chan et al found that the most common location was the sellar region (46%), followed by cerebral hemisphere (32%) [8]. Sellar AT/RTs were reported to be almost exclusively in females and not in the pediatric population [9,10]. Recently, it has been reported in the sellar region, with only 14 cases reported in the literature to date including our case (Table 1) [4,6,[11][12][13][14][15][16][17][18][19].…”

Section: Discussionmentioning

confidence: 74%

“…Chan et al reported the average survival rate of adult AT/RT was 20 months [8]. This is comparable to the reported median survival of 13.5 to 16.8 months in the pediatric population [10,25]. Long-term survival is possible in adult AT/RT cases after a combined approach including surgery, adjuvant radiotherapy, and chemotherapy [17,26].…”

Section: Discussionmentioning

confidence: 78%

Atypical Teratoid/Rhabdoid Tumor of the Sellar Region: A Case Report and Review of the Literature

et al. 2020

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Atypical teratoid/rhabdoid tumors (AT/RTs) are rare and aggressive pediatric malignant rhabdoid tumors (MRTs) that occur within the brain. The majority of these tumors occur in the cerebellum. Only 45 cases of adults with AT/RTs have been reported in the literature to date. We present a case of sellar and suprasellar AT/RT in a 40-yearold female patient with this rare entity. To our knowledge, this is the 14th case of an adult-onset AT/RT in the sellar and suprasellar region.

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“…[ 12 ] ATRT in adults has a predilection for midline structures, particularly the pineal and pituitary glands. [ 24 ] Still, they most frequently occur in the cerebral hemisphere and typically appear involving continuity the lateral ventricles. [ 12 ]…”

Section: Discussionmentioning

confidence: 99%

Fulminant presentation of a SMARCB1-deficient, anterior cranial fossa tumor in adult

Levitan

Fichman

Laviv

2020

Surgical Neurology International

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Background: Malignant atypical teratoid rhabdoid tumor (ATRT) usually develops in children. ATRTs are rare in adults, with only one case in the literature describing involvement of the anterior skull base. These primary intracranial tumors are characterized molecularly as SMARCB1 (INI1) deficient. Different types of such SMARCB1-deficient tumors exist in adulthood, usually in the form of extracranial tumors. Very few cases of such a new entity, named SMARCB1-deficient sinonasal carcinoma have been described with intracranial penetration and involvement of the anterior cranial fossa. Case Description: A 36-year-old male presented with acute cognitive deterioration. Over few hours, he developed a fulminant herniation syndrome. Imaging showed a tumor in the anterior cranial fossa surrounded by massive brain edema. The tumor has destroyed the frontal bone with involvement of the nasal cavities and paranasal sinuses. The patient underwent emergent decompressive craniectomy and tumor debulking but could not be saved. Pathological analysis revealed a highly cellular tumor without rhabdoid cells but with areas of necrosis. Further immunohistochemical stains revealed that neoplastic cells were diffusely and strongly positive for epithelial membrane antigen and P63 and negative for SMARCB1 (i.e., loss of expression), confirming the diagnosis of sinonasal carcinoma. Conclusion: To the best of our knowledge, this is the first report of a fulminant presentation of a SMARCB1- deficient tumor in young adult, involving the anterior cranial fossa and the paranasal sinuses. The main differential diagnosis of aggressive, primary, intracranial SMARCB1-deficient tumors in adults includes ATRT, SMARCB1- deficient sinonasal carcinoma, rhabdoid meningioma, and rhabdoid glioblastoma. Atypical tumors involving the anterior skull base without a clear histopathological pattern should therefore be checked for SMARCB1 expression.

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Atypical teratoid/rhabdoid tumor of the sellar region in adult women: Is it a sex-related disease?

Cited by 18 publications

References 23 publications

A Systematic Review of Atypical Teratoid Rhabdoid Tumor in Adults

A Systematic Review of Atypical Teratoid Rhabdoid Tumor in Adults

Atypical Teratoid/Rhabdoid Tumor of the Sellar Region: A Case Report and Review of the Literature

Fulminant presentation of a SMARCB1-deficient, anterior cranial fossa tumor in adult

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