Case report: Molecular characterization of adult atypical teratoid rhabdoid tumor and review of the literature
Background and importanceAtypical teratoid rhabdoid tumors (ATRTs) are typically aggressive pediatric tumors with a median survival of 11 months. Due to the paucity of cases in adults, the clinical behavior of these pathologies is not well understood. Here we present the case of a 41-year-old female...
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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2025.1510439/full |
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| author | Miguel A. Hernandez-Rovira Michelle Connor Robert C. Osorio Emilie Russler-Germain Robert Schmidt Gabrielle W. Johnson Julie Silverstein Julie Silverstein Sonika Dahiya Nyssa Fox Farrell Mia C. Weiss Gregory J. Zipfel Gregory J. Zipfel Jiayi Huang Jiayi Huang Dimitrios Mathios Dimitrios Mathios |
| author_facet | Miguel A. Hernandez-Rovira Michelle Connor Robert C. Osorio Emilie Russler-Germain Robert Schmidt Gabrielle W. Johnson Julie Silverstein Julie Silverstein Sonika Dahiya Nyssa Fox Farrell Mia C. Weiss Gregory J. Zipfel Gregory J. Zipfel Jiayi Huang Jiayi Huang Dimitrios Mathios Dimitrios Mathios |
| author_sort | Miguel A. Hernandez-Rovira |
| collection | DOAJ |
| description | Background and importanceAtypical teratoid rhabdoid tumors (ATRTs) are typically aggressive pediatric tumors with a median survival of 11 months. Due to the paucity of cases in adults, the clinical behavior of these pathologies is not well understood. Here we present the case of a 41-year-old female patient with postoperative hyperprogression of a sellar ATRT and provide a detailed description of the molecular composition of this tumor, the protocol used to treat this patient, and the ultimate outcome of this patient.Clinical presentationThe patient is a 41-year-old woman who presented with headaches and double vision. MRI revealed a sellar/suprasellar mass with involvement of bilateral cavernous sinuses. Following the quick symptom progression, resection of the tumor with exploration of the bilateral cavernous sinuses was performed, with a final pathologic diagnosis of ATRT-MYC, a known subtype of ATRT. The tumor recurred within 1 month of surgery, attaining a size equivalent to its preoperative state. Postoperatively, the patient received craniospinal radiation and adjuvant chemotherapy with an excellent response but had a recurrence of the tumor in the brainstem 1 year after her diagnosis and died 13 months after presentation.DiscussionSellar ATRT in adults is an exceedingly rare entity. The detailed description of our case highlights the aggressiveness of these tumors and the utility of postoperative chemotherapy and radiation, but also the inevitable progression of these tumors along the craniospinal axis.ConclusionSellar ATRTs should be considered in the differential diagnosis of a sellar/suprasellar mass, especially in women in their 40s. Emphasis should be placed on accurate diagnosis and quick postoperative recovery with early initiation of adjuvant radiation and chemotherapy. |
| format | Article |
| id | doaj-art-8e43579ad181453d8bb5d9fa09e61eb3 |
| institution | OA Journals |
| issn | 2234-943X |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj-art-8e43579ad181453d8bb5d9fa09e61eb32025-08-20T02:14:28ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-02-011510.3389/fonc.2025.15104391510439Case report: Molecular characterization of adult atypical teratoid rhabdoid tumor and review of the literatureMiguel A. Hernandez-Rovira0Michelle Connor1Robert C. Osorio2Emilie Russler-Germain3Robert Schmidt4Gabrielle W. Johnson5Julie Silverstein6Julie Silverstein7Sonika Dahiya8Nyssa Fox Farrell9Mia C. Weiss10Gregory J. Zipfel11Gregory J. Zipfel12Jiayi Huang13Jiayi Huang14Dimitrios Mathios15Dimitrios Mathios16School of Medicine, Washington University in St. Louis, St. Louis, MO, ;United StatesDepartment of Neurosurgery, Washington University School of Medicine, St. Louis, MO, ;United StatesSchool of Medicine, University of California, San Francisco, San Francisco, CA, ;United StatesDepartment of Pathology and Immunology, Washington University in St. Louis, St. Louis, MO, ;United StatesDepartment of Pathology and Immunology, Washington University in St. Louis, St. Louis, MO, ;United StatesDepartment of Neurosurgery, Washington University School of Medicine, St. Louis, MO, ;United StatesDepartment of Neurosurgery, Washington University School of Medicine, St. Louis, MO, ;United StatesDivision of Endocrinology, Metabolism and Lipid Research, Department of Medicine, Washington University in St. Louis, St. Louis, MO, ;United StatesDepartment of Pathology and Immunology, Washington University in St. Louis, St. Louis, MO, ;United StatesDepartment of Otolaryngology, Washington University in St. Louis, St. Louis, MO, ;United StatesDivision of Oncology, Department of Medicine, Washington University in St. Louis, St. Louis, MO, ;United StatesDepartment of Neurosurgery, Washington University School of Medicine, St. Louis, MO, ;United StatesBrain Tumor Center, Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO, ;United StatesBrain Tumor Center, Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO, ;United StatesDepartment of Radiation Oncology, Washington University in St. Louis, St. Louis, MO, ;United StatesDepartment of Neurosurgery, Washington University School of Medicine, St. Louis, MO, ;United StatesBrain Tumor Center, Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO, ;United StatesBackground and importanceAtypical teratoid rhabdoid tumors (ATRTs) are typically aggressive pediatric tumors with a median survival of 11 months. Due to the paucity of cases in adults, the clinical behavior of these pathologies is not well understood. Here we present the case of a 41-year-old female patient with postoperative hyperprogression of a sellar ATRT and provide a detailed description of the molecular composition of this tumor, the protocol used to treat this patient, and the ultimate outcome of this patient.Clinical presentationThe patient is a 41-year-old woman who presented with headaches and double vision. MRI revealed a sellar/suprasellar mass with involvement of bilateral cavernous sinuses. Following the quick symptom progression, resection of the tumor with exploration of the bilateral cavernous sinuses was performed, with a final pathologic diagnosis of ATRT-MYC, a known subtype of ATRT. The tumor recurred within 1 month of surgery, attaining a size equivalent to its preoperative state. Postoperatively, the patient received craniospinal radiation and adjuvant chemotherapy with an excellent response but had a recurrence of the tumor in the brainstem 1 year after her diagnosis and died 13 months after presentation.DiscussionSellar ATRT in adults is an exceedingly rare entity. The detailed description of our case highlights the aggressiveness of these tumors and the utility of postoperative chemotherapy and radiation, but also the inevitable progression of these tumors along the craniospinal axis.ConclusionSellar ATRTs should be considered in the differential diagnosis of a sellar/suprasellar mass, especially in women in their 40s. Emphasis should be placed on accurate diagnosis and quick postoperative recovery with early initiation of adjuvant radiation and chemotherapy.https://www.frontiersin.org/articles/10.3389/fonc.2025.1510439/fullatypical teratoid rhabdoid tumorhyperprogressioncase reportadultsystematic review |
| spellingShingle | Miguel A. Hernandez-Rovira Michelle Connor Robert C. Osorio Emilie Russler-Germain Robert Schmidt Gabrielle W. Johnson Julie Silverstein Julie Silverstein Sonika Dahiya Nyssa Fox Farrell Mia C. Weiss Gregory J. Zipfel Gregory J. Zipfel Jiayi Huang Jiayi Huang Dimitrios Mathios Dimitrios Mathios Case report: Molecular characterization of adult atypical teratoid rhabdoid tumor and review of the literature Frontiers in Oncology atypical teratoid rhabdoid tumor hyperprogression case report adult systematic review |
| title | Case report: Molecular characterization of adult atypical teratoid rhabdoid tumor and review of the literature |
| title_full | Case report: Molecular characterization of adult atypical teratoid rhabdoid tumor and review of the literature |
| title_fullStr | Case report: Molecular characterization of adult atypical teratoid rhabdoid tumor and review of the literature |
| title_full_unstemmed | Case report: Molecular characterization of adult atypical teratoid rhabdoid tumor and review of the literature |
| title_short | Case report: Molecular characterization of adult atypical teratoid rhabdoid tumor and review of the literature |
| title_sort | case report molecular characterization of adult atypical teratoid rhabdoid tumor and review of the literature |
| topic | atypical teratoid rhabdoid tumor hyperprogression case report adult systematic review |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2025.1510439/full |
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