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Atypical Teratoid Rhabdoid Tumor: SMARCB1-Deficient Aggressive Pediatric CNS Malignancy

Multimodal therapy for atypical teratoid rhabdoid tumor with surgery, intensive chemotherapy, autologous stem cell rescue and craniospinal radiation in young children

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Hematoloji department. Book Appointment →

What is Atypical Teratoid Rhabdoid Tumor: SMARCB1-Deficient Aggressive Pediatric CNS Malignancy?

ATRT is malignant embryonal CNS tumor with rhabdoid morphology and characteristic SMARCB1 (INI1) tumor suppressor inactivation.

Median age at diagnosis is 1-2 years with most cases occurring in children younger than 3 years.

Tumor location includes posterior fossa in approximately 50% with supratentorial sites accounting for remainder.

Three molecular subgroups (TYR, SHH, MYC) with distinct biology and clinical correlates emerging from genomic analysis.

Rhabdoid tumor predisposition syndrome with germline SMARCB1 or SMARCA4 mutations occurs in 25-35% requiring genetic evaluation.

Symptoms

Increased intracranial pressure with vomiting, irritability, lethargy and bulging fontanelle in infants.
Cerebellar signs including ataxia, dysmetria, nystagmus from posterior fossa tumor location.
Cranial nerve palsies, focal neurological deficits depending on tumor location.
Failure to thrive, developmental regression in young infants with subacute presentation.
Seizures, hemiparesis or visual disturbance from supratentorial tumors with location-specific manifestations.

Risk Factors

Germline SMARCB1 mutations in rhabdoid tumor predisposition syndrome with autosomal dominant inheritance.
Family history of rhabdoid tumors or related malignancies including renal rhabdoid tumor warrants genetic evaluation.
Young age less than 3 years with infant tumors having particularly aggressive biology and limited treatment options.
Recently identified molecular subgroups influence treatment response and prognosis.
Disseminated disease at diagnosis with leptomeningeal spread occurs in significant proportion.

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Symptoms suggesting brain tumor in young child including vomiting, ataxia, developmental regression require urgent neuroimaging.
  • Posterior fossa or supratentorial mass on MRI in young child requires expedited neurosurgical evaluation.
  • Suspected ATRT diagnosis on imaging requires urgent referral to pediatric neuro-oncology center.
  • Family history of rhabdoid tumors or known rhabdoid tumor predisposition warrants genetic counseling and surveillance.
  • Multidisciplinary care including pediatric neurosurgery, neuro-oncology, radiation oncology, genetics and supportive care optimizes outcomes.

Treatment Methods

01
Maximal safe surgical resection with goal of gross total resection improves outcomes when feasible.
02
Intensive multi-agent chemotherapy regimens including alkylating agents, anthracyclines, methotrexate and platinum agents.
03
High-dose chemotherapy with autologous stem cell rescue tandem transplant strategies for consolidation.
04
Craniospinal radiation for children older than 3 years with focal boost to tumor bed.
05
Genetic counseling and SMARCB1 germline testing with family screening when indicated, supportive care, neurocognitive monitoring, late effects surveillance, and emerging targeted therapies including EZH2 inhibitor tazemetostat in rhabdoid tumors complete comprehensive multidisciplinary management for this aggressive pediatric malignancy.

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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