Atypical teratoid/rhabdoid tumor in adult: case series and an integrated survival analysis

Atypical teratoid rhabdoid tumors (ATRTs) are rare malignant central nervous system tumors, commonly occurring before 3 years of age. Median overall survival (OS) of patients with these tumors is about 1 year, despite aggressive multimodal therapy. Pediatric primary spinal ATRTs are even more rare, with fewer than 50 cases reported. The authors present a series of four patients who were treated at Ann and Robert H. Lurie Children’s Hospital of Chicago in the period from 1996 to 2017.These patients, with ages 2–11 years, presented with pain and a decline in motor functions. They were found to have lesions in the lumbar, thoracic, and/or cervical spine. One patient’s tumor was intramedullary with exophytic components, while another patient’s tumor had both intra- and extradural components. All patients underwent resection followed by chemotherapy (systemic and intrathecal). Two patients had fractionated radiation therapy and one had an autologous stem cell transplant. Three patients are known to be deceased (OS 8.5–45 months). The fourth patient was in remission 19 years after her initial diagnosis. To the authors’ knowledge, this is the largest series of pediatric primary spinal ATRTs documented at a single institution. These cases illustrate a variety of presentations of spinal ATRT and add to the body of literature on this aggressive pathology.A systematic MEDLINE search was also conducted using the keywords “atypical teratoid rhabdoid tumor,” “pediatric spinal rhabdoid tumor,” and “malignant rhabdoid tumor spine.” Reports were included for patients younger than 21 years, without evidence of intracranial or systemic disease at the time of diagnosis. Clinical characteristics and outcomes of the four institutional cases were compared to those in the literature. This review yielded an additional 48 cases of primary pediatric spinal ATRTs reported in the English-language literature. Patients (ages 2 months to 19 years) presented with symptoms of pain, regression of motor function, and spinal cord compression. The majority of tumors were intradural (14 extramedullary, 8 intramedullary, 1 both). Eleven cases in the literature described tumors limited to extradural structures, while 10 tumors involved the intra- and extradural spine. Four reports did not specify tumor location. Although rare, spinal ATRT should be considered in the differential diagnosis of pediatric patients presenting with a new spinal mass.

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Atypical teratoid rhabdoid tumor of the brain: case series and review of literature

Child s Nervous System ◽

10.1007/s00381-009-0903-x ◽

2009 ◽

Vol 25 (11) ◽

pp. 1495-1500 ◽

Cited By ~ 24

Author(s):

Ahitagni Biswas ◽

Shikha Goyal ◽

Tarun Puri ◽

Prasenjit Das ◽

Chitra Sarkar ◽

...

Keyword(s):

Case Series ◽

Rhabdoid Tumor ◽

Atypical Teratoid Rhabdoid Tumor ◽

Review Of Literature ◽

Atypical Teratoid ◽

The Brain

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An Adult Case of Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Lung Metastasis, Harboring a Compound Heterozygous Mutation in INI1

NMC Case Report Journal ◽

10.2176/nmccrj.cr.2020-0128 ◽

2021 ◽

Vol 8 (1) ◽

pp. 267-274

Author(s):

Norito FUKUDA ◽

Masakazu OGIWARA ◽

Satoshi NAKATA ◽

Mitsuto HANIHARA ◽

Tomoyuki KAWATAKI ◽

...

Keyword(s):

Lung Metastasis ◽

Rhabdoid Tumor ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Atypical Teratoid Rhabdoid Tumor ◽

Adult Case ◽

Atypical Teratoid

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

Frontiers in Neurology ◽

10.3389/fneur.2020.00265 ◽

2020 ◽

Vol 11 ◽

Author(s):

Fuxiang Chen ◽

Wenzhong Mei ◽

Wen Lu ◽

Tiefa Zeng ◽

Dezhi Kang ◽

...

Keyword(s):

Case Report ◽

Trigeminal Nerve ◽

Young Male ◽

Rhabdoid Tumor ◽

Atypical Teratoid Rhabdoid Tumor ◽

Review Of The Literature ◽

Adult Case ◽

Male Adult ◽

Atypical Teratoid ◽

Young Male Adult

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Atypical Teratoid/Rhabdoid Tumor of the Cerebellum in an Adult: Case Report and Literature Review

World Neurosurgery ◽

10.1016/j.wneu.2020.08.079 ◽

2021 ◽

Vol 145 ◽

pp. 57-63 ◽

Cited By ~ 1

Author(s):

Garret P. Greeneway ◽

Paul S. Page ◽

Viharkumar Patel ◽

Azam S. Ahmed

Keyword(s):

Case Report ◽

Literature Review ◽

Rhabdoid Tumor ◽

Atypical Teratoid Rhabdoid Tumor ◽

Adult Case ◽

Atypical Teratoid

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Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature

Journal of Neuro-Oncology ◽

10.1007/s11060-007-9339-x ◽

2007 ◽

Vol 84 (1) ◽

pp. 49-55 ◽

Cited By ~ 32

Author(s):

Elena L. Zarovnaya ◽

Henry F. Pallatroni ◽

Eugen B. Hug ◽

Perry A. Ball ◽

Laurence D. Cromwell ◽

...

Keyword(s):

Case Report ◽

Rhabdoid Tumor ◽

Atypical Teratoid Rhabdoid Tumor ◽

Review Of The Literature ◽

Adult Case ◽

Atypical Teratoid

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Intensive Multimodality Treatment for Children With Newly Diagnosed CNS Atypical Teratoid Rhabdoid Tumor

Yearbook of Neurology and Neurosurgery ◽

10.1016/s0513-5117(09)79016-7 ◽

2009 ◽

Vol 2009 ◽

pp. 185-186

Author(s):

G. Rao

Keyword(s):

Multimodality Treatment ◽

Rhabdoid Tumor ◽

Atypical Teratoid Rhabdoid Tumor ◽

Newly Diagnosed ◽

Atypical Teratoid

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ATRT-03. IDENTIFICATION OF microRNA-BASED PROGNOSTIC BIOMARKERS AND CANDIDATE THERAPEUTIC AGENTS FOR ATYPICAL TERATOID/RHABDOID TUMOR

Neuro-Oncology ◽

10.1093/neuonc/noaa222.003 ◽

2020 ◽

Vol 22 (Supplement_3) ◽

pp. iii275-iii276

Author(s):

Yang Zhang ◽

Jianguo Xu

Keyword(s):

Target Genes ◽

Kinase Inhibitor ◽

Therapeutic Agents ◽

Rhabdoid Tumor ◽

Janus Kinase ◽

Prognostic Biomarkers ◽

Atypical Teratoid Rhabdoid Tumor ◽

Overlapping Genes ◽

Hub Genes ◽

Atypical Teratoid

Abstract BACKGROUND MicroRNA (miRNA) has been found to be involved in development of many malignant pediatric brain tumors, including atypical teratoid/rhabdoid tumor (AT/RT) that is highly aggressive and carries a dismal prognosis. The current study investigated the potential value of miRNAs and pivotal genes associated with AT/RT using bioinformatics analysis, aiming to identify new prognostic biomarkers and candidate drugs for AT/RT patients. METHODS Differentially expressed miRNAs (DEMs) and genes (DEGs) between AT/RT and normal control samples were obtained from GEO database. The target genes of DEMs were predicted via TargetScanHuman7.2 and miRDB, and then intersected with DEGs. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses of overlapping genes were conducted, followed by construction of protein-protein interaction network. Hub genes were determined by Cytoscape software, and their prognostic values were evaluated using Kaplan-Meier analysis. Connectivity Map database was used to identify latent therapeutic agents. RESULTS A total of 11 DEMs (hsa-miR-1224-5p, hsa-miR-128-3p, hsa-miR-17-5p, hsa-miR-18b-5p, hsa-miR-29c-5p, hsa-miR-329-3p, hsa-miR-379-5p, hsa-miR-433-3p, hsa-miR-488-5p, hsa-miR-656-3p and hsa-miR-885-5p) were screened. By intersecting 3275 predicted target genes and 925 DEGs, we finally identified 226 overlapping genes that were enriched in pathways in cancer and MAPK signaling pathway. Four hub genes (GRIA2, NRXN1, SLC6A1 and SYT1) were significantly associated with the overall survival of AT/RT patients. Candidate drugs included histone deacetylase inhibitor (givinostat), DNA synthesis inhibitor (floxuridine), cyclin-dependent kinase inhibitor (purvalanol) and janus kinase inhibitor (lestaurtinib). CONCLUSION In summary, this study systematically analyzed AT/RT-related miRNAs and pivotal genes to provide novel prognostic biomarkers and potential therapeutic agents.

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Atypical Teratoid Rhabdoid Tumor in a Newborn: Can IVF Be a Risk Factor?

Fetal and Pediatric Pathology ◽

10.1080/15513815.2021.1913536 ◽

2021 ◽

pp. 1-5

Author(s):

Turkay Rzayev ◽

Kubra Gokce ◽

Safak Gucyetmez ◽

Suheyla Bozkurt ◽

Adnan Dagcinar ◽

...

Keyword(s):

Risk Factor ◽

Rhabdoid Tumor ◽

Atypical Teratoid Rhabdoid Tumor ◽

Atypical Teratoid

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Epithelioid Sarcoma Arising in a Long-Term Survivor of an Atypical Teratoid/Rhabdoid Tumor in a Patient With Rhabdoid Tumor Predisposition Syndrome

Pediatric and Developmental Pathology ◽

10.1177/1093526620986492 ◽

2021 ◽

pp. 109352662098649

Author(s):

Tiffany G Baker ◽

Michael J Lyons ◽

Lee Leddy ◽

David M Parham ◽

Cynthia T Welsh

Keyword(s):

Epithelioid Sarcoma ◽

Rhabdoid Tumor ◽

Malignant Rhabdoid Tumor ◽

Atypical Teratoid Rhabdoid Tumor ◽

Diagnostic Challenge ◽

Patient Demographics ◽

Immunohistochemical Markers ◽

Genetic Aberration ◽

Atypical Teratoid ◽

Rhabdoid Tumors

Rhabdoid tumor predisposition syndrome (RTPS) is defined as the presence of a SMARCB1 or SMARCA4 genetic aberration in a patient with malignant rhabdoid tumor. Patients with RTPS are more likely to present with synchronous or metachronous rhabdoid tumors. Based on the current state of rhabdoid tumor taxonomy, these diagnoses are based largely on patient demographics, anatomic location of disease, and immunohistochemistry, despite their nearly identical histologic and immunohistochemical profiles. Thus, the true distinction between such tumors remains a diagnostic challenge. Central nervous system atypical teratoid/rhabdoid tumor (AT/RT) is a rare, aggressive, primarily pediatric malignancy with variable histologic features and a well documented association with loss of SMARCB1 expression. Epithelioid sarcoma (ES) is a rare soft tissue tumor arising in patients of all ages and characteristically staining for both mesenchymal and epithelial immunohistochemical markers while usually demonstrating loss of SMARCB1 expression. To our knowledge we herein present the first documented case of a patient with RTPS who presented with metachronous AT/RT and ES.

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