Acta Scientific Paediatrics

Case Report Volume 6 Issue 9

An Unusual Cause of Vomiting in a Pediatric Patient..! Atypical Teratoid/Rhabdoid Tumor: A Case Report and Literature Review

Elsy El Hayek1, Hiba Abdalla2, Elias Al Skaff3, Ibrahim Saikaly4, Peter Noun5 and Lina Mortada6

1MD, PGY3, Pediatric Resident Physician, Faculty of Medical Sciences, Lebanese University, Lebanon
2MD, PGY4, Pediatric Resident Physician, Faculty of Medical Sciences, Lebanese University, Lebanon
3MD, PGY2, Pediatric Resident Physician, Faculty of Medical Sciences, Lebanese University, Lebanon
4MD, Associate Professor in Neurosurgery, Lebanon
5MD, Associate Professor in Pediatrics and Pediatric Hemato-Oncology, Lebanon
6MD, Pediatrician, Lebanese University, Lebanon

*Corresponding Author: Lina Mortada, MD, Pediatrician, Lebanese University, Lebanon.

Received: August 16, 2023; Published: October 23, 2023

Abstract

Introduction: A typical teratoid/rhabdoid tumor is a rare embryonal tumor of the central nervous system. It is usually reported in children below 3 years of age. Spinal canal involvement is extremely rare.

Case Description: A 6 years old girl presented for vomiting of 2 weeks duration, refractory to supportive treatment. Brain MRI showed a posterior fossa tumor. A craniotomy was done for tumor removal, and histologic findings were consistent with an atypical teratoid/rhabdoid tumor. Spinal lesions were found on MRI.

Discussion: Atypical teratoid/rhabdoid tumors are extremely aggressive. They can present with several symptoms. Imaging and histopathologic examinations are necessary to confirm the diagnosis. The treatment of these tumors is largely dependent on the patient’s age, the location of the tumor in the central nervous system, and the stage of the disease at time of diagnosis. Surgical excision remains the mainstay of treatment; although a role is reserved for chemotherapy and radiotherapy. Despite this multimodal therapy, the prognosis of these patients remains extremely poor.

Conclusion: Atypical teratoid/rhabdoid tumors can present with symptoms that are common in pediatric population; a high index of suspicion is necessary to diagnose and treat them without delay. This case report also showed several atypical presentations of these tumors.

Keywords: Vomiting; Pediatrics; Atypical Teratoid/Rhabdoid Tumor; Metastase

References

  1. Bos RF., et al. “Braken als eerste neurologische symptoom van een hersentumor op de kinderleeftijd [Vomiting as a first neurological sign of brain tumors in children]”. Ned Tijdschr Geneeskd30 (2002): 1393-1398.
  2. Hayashi N., et al. “How do the clinical features of brain tumours in childhood progress before diagnosis?” Brain Development 32 (2010): 636-641.
  3. Linabery AM and Ross JA. Cancer 2 (2008): 416.
  4. Bannykh S., et al. “Atypical teratoid/rhabdoid tumor of the spinal canal”. Journal of Neuro-Oncology 76 (2006): 129-130.
  5. Moeller KK., et al. “Atypical teratoid/rhabdoid tumor of the spine”. AJNR American Journal of Neuroradiology 28 (2007): 593-595.
  6. H Radner., et al. “The new WHO classification of tumors of the nervous system 2000. Pathology and genetics”. Der Pathologe4 (2002): 260- 283.
  7. P Kleihues., et al. “The WHO classification of tumors of the nervous system”. Journal of Neuropathology and Experimental Neurology3 (2002): 215-225.
  8. , et al. “Atypical teratoid/rhabdoid tumors: challenges and search for solutions”. Cancer Management and Research 8 (2016): 115-125.
  9. Neuro-Oncology 16 (2014): i1-i9.
  10. Montgomery P., et al. “Rhabdoid tumor of the kidney: a case report”. Urology Radiology1 (1985): 42-44.
  11. Rorke LB., et al. “Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity”. Journal of Neurosurgery1 (1996): 56-65.
  12. Woehrer A., et al. “Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996-2006”. Cancer 24 (2010): 5725-5732.
  13. Meel MH., et al. “MEK/MELK inhibition and blood- brain barrier deficiencies in atypical teratoid/rhabdoid tumors”. Neuro-Oncology 1 (2020): 58-69.
  14. Ostrom QT., et al. “The descriptive epidemiology of atypical teratoid/rhabdoid tumors in the United States, 2001-2010”. Neuro-Oncology 10 (2014): 1392-1399.
  15. Wang X., et al. “Atypical teratoid/rhabdoidtumor (AT/RT) arising from the acoustic nerve in a young adult: a case report and a review of literature”. Medicine 4 (2015): e439.
  16. Buscariollo DL., et al. “Survival outcomes in a typical teratoid rhabdoid tumor for patients undergoing radiotherapy in a surveillance, epidemiology, and end results analysis”. Cancer 17 (2012): 4212-4219.
  17. Howes TL., et al. “Atypical teratoid/ rhabdoid tumor case report: treatment with surgical excision, radiation therapy, and alternative medicines”. Journal of Neuro-Oncology1 (2005): 85-88.
  18. Dang T., et al. “Atypicalteratoid/rhabdoid tumors”. Child's Nervous System4 (2003): 244-248.
  19. Bambakidis NC., et al. “Atypical teratoid/rhabdoid tumors of the central nervous system: clinical, radiographic and pathologic features”. Pediatric Neurosurgery2 (2002): 64-70.
  20. Rorke LB., et al. “Atypical teratoid/rhabdoid tumour”. In: Kleihues, P.; Cavenee, WK., editors. Pathology and Genetics Tumours of the Nervous System. Lyon: IARC Press (2000): 123-148.
  21. Yang M., et al. “Primary atypicalteratoid/rhabdoid tumor of central nervous system in children: a clinicopathological analysis and review of literature in China”. International Journal of Clinical and Experimental Pathology 5 (2014): 2411-2420.
  22. D’Cunja J., et al. “Antisense treatment of IGF-IR induces apoptosis and enhances chemosensitivity in central nervous system atypical teratoid/rhabdoid tumours cells”. European Journal of Cancer10 (2007): 1581-1589.
  23. Strother D. “Atypical teratoid rhabdoid tumors of childhood: diagnosis, treatment and challenges”. Expert Review of Anticancer Therapy5 (2005): 907-915.
  24. Bhattacharjee M., et al. “Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood”. Ultrastructure Pathology4 (1997): 369-78.
  25. Judkins AR., et al. “Atypical teratoid/rhabdoid tumour”. In: Louis, DN.; Ohgaki, H.; Wiestler, OD.; Cavenee, WK., editors. WHO Classification of Tumours of the Central Nervous System. Lyon: IARC Press (2007): 147-149.
  26. Jin S., et al. “Atypical teratoid/rhabdoid tumorof the brain in an adult with 22q deletion but no absence of INI1 protein: a case report and review of the literature”. Folia Neuropathology1 (2005): 80-85.
  27. Ginn KF and Gajjar A. “Atypical teratoid rhabdoid tumor: current therapy and future directions”. Frontiers in Oncology 2 (2012): 114.
  28. Judkins AR., et al. “Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms”. The American Journal of Surgical Pathology 5 (2004): 644-650.
  29. Haberler C., et al. “Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype”. American Journal of Surgical Pathology11 (2006): 1462-1468.
  30. Biegel JA., et al. “The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors”. Cancer Research1 (2002): 323-328.
  31. Coccé MC., et al. “A complexkaryotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature”. Journal of Neuro-Oncology1 (2011): 375-380.
  32. Hasselblatt M., et al. “Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression”. American Journal of Surgical Pathology6 (2011): 933-935.
  33. Ho B., et al. “Molecular subgrouping of atypical teratoid/rhabdoid tumors - a reinvestigation and current consensus”. Neuro-Oncology5 (2020): 613-624.
  34. Chan V., et al. “Intraventricular atypicalteratoid rhabdoid tumour in an adult: a case report and literature review”. Folia Neuropathology3 (2019): 295-300.
  35. Lee J., et al. “Atypical teratoid/rhabdoid tumors inchildren treated with multimodal therapies: the necessity of upfront radiotherapy after surgery”. Pediatric Blood Cancer12 (2017).
  36. Sung KW., et al. “Tandem highdose chemotherapy and autologous stem cell transplantation for atypical teratoid/rhabdoid tumor”. Cancer Research Treatment4 (2016): 1408-1419.
  37. van Gool SW., et al. “Immunotherapy in atypical teratoid-rhabdoid tumors: data from a survey of the HGG-immuno group”. Cytotherapy 9 (2016): 1178-1186.
  38. Zimmerman MA., et al. “Continuous remission of newly diagnosed and relapsed central nervous system atypical teratoid/rhabdoid tumor”. Journal of Neuro-Oncology1 (2005): 77-84.
  39. Strother D. “Atypical teratoid rhabdoid tumors of childhood: diagnosis, treatment and challenges”. Expert Review of Anticancer Therapy5 (2005): 907-915.

Citation

Citation: Lina Mortada., et al.. “An Unusual Cause of Vomiting in a Pediatric Patient..! Atypical Teratoid/Rhabdoid Tumor: A Case Report and Literature Review".Acta Scientific Paediatrics 6.9 (2023): 01-07.

Copyright

Copyright: © 2023 Lina Mortada.,et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.




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