Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging Findings
Purpose: To assess the main imaging and clinical features in adult- and pediatric-onset atypical teratoid rhabdoid tumor (ATRT) in order to build a predefined pathway useful for the diagnosis. Methods: We enrolled 11 ATRT patients (10 children, one adult) and we conducted a literature search on PubM...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-01-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/13/3/475 |
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| author | Rosalinda Calandrelli Luca Massimi Fabio Pilato Tommaso Verdolotti Antonio Ruggiero Giorgio Attinà Marco Gessi Cesare Colosimo |
| author_facet | Rosalinda Calandrelli Luca Massimi Fabio Pilato Tommaso Verdolotti Antonio Ruggiero Giorgio Attinà Marco Gessi Cesare Colosimo |
| author_sort | Rosalinda Calandrelli |
| collection | DOAJ |
| description | Purpose: To assess the main imaging and clinical features in adult- and pediatric-onset atypical teratoid rhabdoid tumor (ATRT) in order to build a predefined pathway useful for the diagnosis. Methods: We enrolled 11 ATRT patients (10 children, one adult) and we conducted a literature search on PubMed Central using the key terms “adult” or “pediatric” and “atypical teratoid/rhabdoid tumor”. We collected clinical and neuroradiological data reported in previous studies and combined them with those from our case series. A three step process was built to reach diagnosis by identifying the main distinctive clinical and imaging features. Results: Clinical evaluation: neurological symptoms were nonspecific. ATRT was more frequent in children under 3 years of age (7 out of 10 children) and infratentorial localization was reported more frequently in children under the age of 24 months. Midline/off-midline localization was influenced by the age. Imaging findings: Preferential location near the ventricles and liquor spaces and the presence of eccentric cysts were hallmark for ATRT; higher frequency of peripheral cysts was detected in children and in the supratentorial compartment (five out of eight patients with solid-cystic ATRT). Leptomeningeal dissemination at diagnosis was common (5 out of 10 children), while intratumoral hemorrhage, calcifications, and high cellularity were non-specific findings. Histopathological analysis: specific immunohistochemical markers were essential to confirm the diagnosis. Conclusion: In younger children, a bulky, heterogeneous mass with eccentric cystic components and development near ventricles or cisternal spaces may be suggestive of ATRT. ATRT diagnosis is more challenging in adults and relies exclusively on neuropathological examination. |
| first_indexed | 2024-03-11T09:48:26Z |
| format | Article |
| id | doaj.art-cbe4c7a0e3fd4ee4839b399971d536a8 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-11T09:48:26Z |
| publishDate | 2023-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-cbe4c7a0e3fd4ee4839b399971d536a82023-11-16T16:25:14ZengMDPI AGDiagnostics2075-44182023-01-0113347510.3390/diagnostics13030475Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging FindingsRosalinda Calandrelli0Luca Massimi1Fabio Pilato2Tommaso Verdolotti3Antonio Ruggiero4Giorgio Attinà5Marco Gessi6Cesare Colosimo7Institute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo A. Gemelli, 1, 00168 Rome, ItalyPediatric Neurosurgery, Neurosurgery Department, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo A. Gemelli, 1, 00168 Rome, ItalyUnit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Campus Bio-Medico University, 00128 Rome, ItalyInstitute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo A. Gemelli, 1, 00168 Rome, ItalyUOSD di Oncologia Pediatrica, Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168 Rome, ItalyUOSD di Oncologia Pediatrica, Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168 Rome, ItalyNeuropathology Unit, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, ItalyInstitute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo A. Gemelli, 1, 00168 Rome, ItalyPurpose: To assess the main imaging and clinical features in adult- and pediatric-onset atypical teratoid rhabdoid tumor (ATRT) in order to build a predefined pathway useful for the diagnosis. Methods: We enrolled 11 ATRT patients (10 children, one adult) and we conducted a literature search on PubMed Central using the key terms “adult” or “pediatric” and “atypical teratoid/rhabdoid tumor”. We collected clinical and neuroradiological data reported in previous studies and combined them with those from our case series. A three step process was built to reach diagnosis by identifying the main distinctive clinical and imaging features. Results: Clinical evaluation: neurological symptoms were nonspecific. ATRT was more frequent in children under 3 years of age (7 out of 10 children) and infratentorial localization was reported more frequently in children under the age of 24 months. Midline/off-midline localization was influenced by the age. Imaging findings: Preferential location near the ventricles and liquor spaces and the presence of eccentric cysts were hallmark for ATRT; higher frequency of peripheral cysts was detected in children and in the supratentorial compartment (five out of eight patients with solid-cystic ATRT). Leptomeningeal dissemination at diagnosis was common (5 out of 10 children), while intratumoral hemorrhage, calcifications, and high cellularity were non-specific findings. Histopathological analysis: specific immunohistochemical markers were essential to confirm the diagnosis. Conclusion: In younger children, a bulky, heterogeneous mass with eccentric cystic components and development near ventricles or cisternal spaces may be suggestive of ATRT. ATRT diagnosis is more challenging in adults and relies exclusively on neuropathological examination.https://www.mdpi.com/2075-4418/13/3/475atypical teratoid rhabdoid tumordiagnostic paradigmMRICT |
| spellingShingle | Rosalinda Calandrelli Luca Massimi Fabio Pilato Tommaso Verdolotti Antonio Ruggiero Giorgio Attinà Marco Gessi Cesare Colosimo Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging Findings Diagnostics atypical teratoid rhabdoid tumor diagnostic paradigm MRI CT |
| title | Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging Findings |
| title_full | Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging Findings |
| title_fullStr | Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging Findings |
| title_full_unstemmed | Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging Findings |
| title_short | Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging Findings |
| title_sort | atypical teratoid rhabdoid tumor proposal of a diagnostic pathway based on clinical features and neuroimaging findings |
| topic | atypical teratoid rhabdoid tumor diagnostic paradigm MRI CT |
| url | https://www.mdpi.com/2075-4418/13/3/475 |
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