Primary diffuse leptomeningeal atypical teratoid rhabdoid tumor (AT/RT) demonstrating atypical imaging findings in an adolescent patient

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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Atypical teratoid rhabdoid tumor in the cerebellum of a 7‐year‐old boy presenting with headache after a fall

Journal of the American College of Emergency Physicians Open ◽

10.1002/emp2.12353 ◽

2021 ◽

Vol 2 (1) ◽

Author(s):

Leena Iqbal ◽

Philip S. Nawrocki ◽

Christine Radivoj

Keyword(s):

Rhabdoid Tumor ◽

Atypical Teratoid Rhabdoid Tumor ◽

Atypical Teratoid

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ATRT-04. INHERITED RHABDOID PREDISPOSITION SYNDROME: A CASE OF CHOROID PLEXUS CARCINOMA AND ATYPICAL TERATOID RHABDOID TUMOR IN SIBLINGS

Neuro-Oncology ◽

10.1093/neuonc/noaa222.004 ◽

2020 ◽

Vol 22 (Supplement_3) ◽

pp. iii276-iii276

Author(s):

Alexis Judd ◽

Erin Wright ◽

Sarah Rush

Keyword(s):

Overall Survival ◽

Choroid Plexus ◽

Disease Recurrence ◽

Genetic Alterations ◽

Rhabdoid Tumor ◽

Choroid Plexus Carcinoma ◽

High Dose ◽

Atypical Teratoid Rhabdoid Tumor ◽

Increased Risk ◽

Atypical Teratoid

Abstract Choroid plexus carcinoma (CPC) and Atypical teratoid/rhabdoid tumor (ATRT) are aggressive, malignant brain cancers most commonly arising in children less than 3 years of age. These tumors often have genetic alterations in the tumor suppressor gene SMARCB1/INI1. Rhabdoid predisposition syndrome (RTPS) categorizes patients with germline mutations in SMARCB1 or SMARCA4, leading to a markedly increased risk of developing rhabdoid tumors. Both CPC and ATRT have been demonstrated in patients with these rhabdoid predisposition syndromes. In general, these tumors tend to have a poor prognosis. However, with the presence of a SMARCB1 mutation they may have improved overall survival. We present two interesting cases of siblings with maternally inherited SMARCB1 mutations: one a 21-month-old male who presented with an ATRT and another a 10 month old female who presented with a CPC. The ATRT was treated as per the Children’s Oncology Group study ACNS0333 with high dose chemotherapy and stem cell rescue as well as cranial radiation. The CPC was treated as per CPT-SIOP 2009 with etoposide, cyclophosphamide and vincristine. Unlike other patients with these aggressive tumors, both of these patients are alive without evidence of disease recurrence 8 and 7 years post therapy, respectively. Additional genomic testing on both tumors is currently pending in order to potentially identify other mutations that may impact survival. These cases further illustrate the similar profile of two very different tumors with improved overall survival that may be secondary to mutations in SMARCB1 in RTPS.

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