Infantile Atypical Teratoid Rhabdoid Tumor of the Spine Presenting with Acute Hydrocephalus

Tsitsopoulos, Parmenion P.; Marinos, Konstantinos; Chochliourou, Elpis; Theologou, Marios; Nikolaidou, Christina; Σδούγκα, Μαρία; Tsonidis, Christos

doi:10.1159/000511423

Cited by 4 publications

(1 citation statement)

References 22 publications

(34 reference statements)

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“…In the case of neurological localization, this tumor has been described with initial presentation of subarachnoid and intraventricular hemorrhage 13 , and even acute hydrocephalus 14 and de novo spinal cord presentations. There are also reports of cases in which it is difficult to distinguish between this type of tumor and other more frequent tumors or other pathologies.…”

Section: Discussionmentioning

confidence: 99%

Extrarenal rhabdoid tumor of anterior mediastinal location

Martínez-Cuevas¹,

Medellín-Ortega²,

López-Facio³

et al. 2023

BMHIM

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Background: Rhabdoid tumors are malignant neoplasms of low prevalence, aggressive behavior, and high mortality. They were initially described as renal tumors, although tumors with the same histopathological and immunohistochemical characteristics have been discovered in other locations, mainly in the central nervous system. Few cases of mediastinal location have been reported internationally. This work aimed to describe the case of a mediastinal rhabdoid tumor. Case report: We describe the case of an 8-month-old male patient admitted to the pediatric department with dysphonia and laryngeal stridor progressing to severe respiratory distress. Contrast-enhanced computed tomography of the thorax showed a large mass with homogeneous soft tissue density, and smooth and well-defined borders, with suspicion of malignant neoplasm. Due to the oncological emergency compressing the airway, empirical chemotherapy was initiated. Subsequently, the patient underwent incomplete tumor resection due to its invasive nature. The pathology report showed morphology compatible with a rhabdoid tumor, which immunohistochemical and genetic studies corroborated. Chemotherapy and radiotherapy to the mediastinum were administered. However, the patient died three months after the initial treatment due to the aggressive behavior of the tumor. Conclusions: Rhabdoid tumors are aggressive and malignant entities difficult to control and have poor survival. Early diagnosis and aggressive treatment are required, although the 5-year survival does not exceed 40%. It is necessary to analyze and report more similar cases to establish specific treatment guidelines.

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Section: Discussionmentioning

confidence: 99%

Extrarenal rhabdoid tumor of anterior mediastinal location

Martínez-Cuevas¹,

Medellín-Ortega²,

López-Facio³

et al. 2023

BMHIM

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Extradural malignant rhabdoid tumor of the spine in children: A case-based review

Vigneul,

Rooijakkers,

Joris

et al. 2023

Childs Nerv Syst

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Clinical diagnostic and radiographic features of primary spinal atypical teratoid rhabdoid tumor in a pediatric patient: A case report and review of the literature

Syed,

Teferi,

Hanson

et al. 2023

J Cent Nerv Syst Dis

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Atypical teratoid rhabdoid tumors (ATRTs) are rare embryonal tumors comprising 1-2% of all pediatric CNS neoplasms. Spinal ATRTs are even more uncommon, accounting for 2% of all reported ATRT cases. Despite their rarity, ATRTs affect young children disproportionately and are characterized by a high malignant potential due to a heterogeneous cellular composition and inactivating mutations in the SMARCB1 (90%) and SMARCA4 (10%) genes. A 15-month-old female presented with a 2-week history of decreased lower extremity movement and new-onset need for assistance with ambulation. MRI lumbar spine revealed a contrast-enhancing intradural mass at the L3-L4 level with iso-intensity on T1 and T2 sequences. The patient subsequently underwent subtotal tumor resection (∼80%) given concerns for maintaining neurological function. Final pathology was consistent with spinal ATRT, and she later underwent adjuvant chemoradiation therapy per ACNS0333 protocol. She has since remained in remission with age-appropriate developmental milestones over the past 2 years. ATRTs should be considered in the differential diagnosis of intradural spinal lesions, especially in the pediatric patient population. Clinical course, presentation, and diagnosis is often delayed due to the rarity of these tumors, but contrasted craniospinal MRI is key for diagnosis and histopathology with IHC staining showing loss of INI is confirmatory. While gross total resection is the goal, maximal safe tumor resection should be prioritized in order to preserve neurological function. Adjuvant chemoradiation following gross total/subtotal resection has been shown to significantly improve overall survival.

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Infantile Atypical Teratoid Rhabdoid Tumor of the Spine Presenting with Acute Hydrocephalus

Cited by 4 publications

References 22 publications

Extrarenal rhabdoid tumor of anterior mediastinal location

Extrarenal rhabdoid tumor of anterior mediastinal location

Extradural malignant rhabdoid tumor of the spine in children: A case-based review

Clinical diagnostic and radiographic features of primary spinal atypical teratoid rhabdoid tumor in a pediatric patient: A case report and review of the literature

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