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Clinical Characteristics and Outcomes of Rhabdoid Tumors in Childhood

Year 2023, Volume: 11 Issue: 3, 78 - 85, 15.10.2023

Abstract

Background/Aims: Pediatric Rhabdoid tumors are highly aggressive tumor with poor prognosis. There are no consensus about standart treatments currently. It was aimed to evaluate clinical characteristics and outcomes of pediatric rhabdoid tumors.
Material and Method: Eight malignant rhabdoid tumor were evaluated retrospectively from data set between 2013 to 2020.
Results: Of 8, 5 patients were male (Male/female: 5/3). The median age was 24 months, 6 patients (70%) were below 3 years (4 months-10 years). Tumor localizations were heterogeneous: (5 central nervous system, 1 multifocal, 1 kidney, and 1 bladder). Genetic analysis revealed germline heterozygous SMARCB1 mutation in one (12%) patient. Patients experienced various toxicities such as Wernicke's-like encephalopathy, vincristine neuropathy, veno-occlusive disease mainly haematological toxicity/mucositis and febrile neutropenia. Five patients died due to progressive disease (62%). The median follow-up time of all patients was 24.5 months (ranges 6-41 months). The 2-year- event-free and overall survival rates are 37.5% and 50%, respectively.
Conclusion: It should keep in mind pediatric rhabdoid tumors might present with various ages and localisations, but mainly under 3 years old and central nervous system. The experience is limited due to rarity, but addition of high-dose chemotherapy with autologous hematopoietic stem cell transplantation could be efficious in subset of patients who achieved complete remission before transplantation. The toxicities resulted from intensive treatments could be managable yet new targeted therapies are required to improve survival rates.

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References

  • 1. Haas JE, Palmer NF, Weinberg AG, Beckwith JB. Ultrastructure of malignant rhabdoid tumor of the kidney. A distinctive renal tumor of children. Hum Pathol1981;12(7):646-657.
  • 2. Gellera JI, J. Rothb JJ, Biegelb JA Biology and Treatment of Rhabdoid Tumor. Crit Rev Oncog 2015; 20(3-4): 199– 216.
  • 3. Fossey M, Li H, Afzal S, et al. Atypical teratoid rhabdoid tumor in the first year of life: the Canadian ATRT registry experience and review of the literature. J Neurooncol. 2017;132(1):155-162.
  • 4. Fischer-Valuck BW, Chen I, Srivastava AJ, et al. Assessment of the treatment approach and survival outcomes in a modern cohort of patients with atypical teratoid rhabdoid tumors using the National Cancer Database. Cancer. 2017;123(4):682-687.
  • 5. Al-Hussaini M, Dissi N, Souki C, Amayiri N. Atypical teratoid/ rhabdoid tumor, an immunohistochemical study of potential diagnostic and prognostic markers. Neuropathology. 2016;36(1):17-26.
  • 6. Koga Y, Matsuzaki A, Suminoe A, Hatano M, Saito Y, Kinoshita Y, Tajiri T, Taguchi T, Kohashi K, Oda Y, Tsuneyoshi M, Hara T. Long-term survival after autologous peripheral blood stem cell transplantation in two patients with malignant rhabdoid tumor of the kidney.Pediatr Blood Cancer.2009;52(7):888–890.
  • 7. Morgenstern DA, Gibson S, Brown T, Sebire NJ, Anderson J. Clinical and Pathological Features of Paediatric Malignant Rhabdoid Tumors. Pediatr Blood Cancer. 2010;54:29–34.
  • 8. Buscariollo DL, Park HS, Roberts KB, Yu JB. Survival outcomes in atypical teratoid rhabdoid tumor for patients undergoing radiotherapy in a Surveillance, Epidemiology, and End Results analysis. Cancer. 2012;118(17): 4212-4219.
  • 9. Samaras V, Stamatelli A, Samaras E, et al. Atypical teratoid/rhabdoid tumor of the central nervous system in an 18- year-old patient. Clin Neuropathol. 2009;28(1):1-10.
  • 10. Appaji L, Aruna Kumari BS, Babu KG, et al. Atypical teratoid rhabdoid tumor of the central nervous system: Case series from a regional Tertiary Care Cancer Centre in South India. J Cancer Res Ther. 2017;13(6):1015-1022.
  • 11. Masoudi MS, Derakhshan N, Ghaffarpasand F, Geramizadeh B, Heydari M. Multifocal atypical teratoid/rhabdoid tumor: a rare entity. Childs Nerv Syst. 2016;32(12):2287-2288.
  • 12. Li F, Gui Q, Piao Y. Primary supratentorial atypical teratoid/rhabdoid tumor in children: a report of two cases. J Child Neurol. 2013;28(3):399-403.
  • 13. 13. Li D, Heiferman DM, Syed HR, et al. Pediatric primary spinal atypical teratoid rhabdoid tumor: a case series and review of the literature . J Neurosurg Pediatr. 2019;1-17.
  • 14. Sharma A, Sable MN, Singla R, Dash C, Sahu RN. Lateral Ventricle Atypical Teratoid/Rhabdoid Tumor (AT/RT): Case Report and Review of Literature Neurol India Nov-Dec 2020;68(6):1465-1468.
  • 15. Furtwangler R, Kager L, Melchior P et al. High‐ dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival—The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience. Pediatr Blood Cancer 2018 Jan;65(1):1-7.
  • 16. Heuvel-Eibrink MM, Rehorst H, Coulom A et al. Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: a report of the SIOP renal tumour study group. Pediatr Blood Cancer 2011 May;56(5):733-737.
  • 17. Morizane A, Nakahara I, Takahashi JA, et al. A malignant rhabdoid tumor appearing simultanously in the kidney and the brain of an ainfant: case report. No Shinkei Geka.1997. Jul ;25(7):665-669.
  • 18. Assadi A, Alzubaidi A, Lesmana H et al. Pure Bladder Malignant Rhabdoid Tumor Successfully Treated With Partial Cystectomy, Radiation, and Chemotherapy: A Case Report and Review of the Literature. J Pediatr Hematol Oncol 2020 Oct 7. doi: 10.1097/MPH.0000000000001963.
  • 19. Cefalo MG, De Ioris MA, Cacchione A, et al. Wernicke encephalopathy in pediatric neuro-oncology: presentation of 2 cases and review of literature. J Child Neurol.2014. Dec;29(12):181-185.
  • 20. White ML, Zhang Y, Andrew LG, et al. MR imaging with diffusion-weighted imaging in acute and chronic Wernicke encephalopathy. Am J Neuroradiol. 2005 Oct;26(9):2306-2310.
  • 21. Oda Y, Tsuneyoshi M. Extrarenal rhabdoid tumors of soft tissue: clinicopathological and molecular genetic review and distinction from other soft tissue sarcomas with rhabdoid features. Pathol Int 2006 Jun;56(6):287-295.
  • 22. Babgi M, Samkari A, Al-Mehdar A, Abdullah S. Atypical Teratoid/Rhabdoid Tumor of the Spinal Cord in a Child: Case Report and Comprehensive Review of the Literature. Pediatr Neurosurg. 2018;53(4):254-262.
  • 23. Appaji L, Aruna Kumari BS, Babu KG, et al. Atypical teratoid rhabdoid tumor of the central nervous system: Case series from a regional Tertiary Care Cancer Centre in South India. J Cancer Res Ther.
  • 24. Hong CR, Kang HJ, Ju HY, et al. Extra-cranial Malignant Rhabdoid Tumor in Children: A Single Institute Experience. Cancer Res Treat. 2015;47(4):889-896.
  • 25. Reinhard E, Reinert R, Beier R, et al. Rhabdoid tumors in children: prognostic factors in 70 patients diagnosed in Germany. Oncol Rep 2008 Mar;19(3):819-823.
  • 26. Reddy AT, Strother RD, Alexander R. Judkins AR, et al. Efficacy of High-Dose Chemotherapy and ThreeDimensional Conformal Radiation for Atypical Teratoid/Rhabdoid Tumor: A Report From the Children’s Oncology Group Trial ACNS0333. J Clin Oncol 2020 Apr 10;38(11):1175-1185.
  • 27. Underiner RM, Eltobgy M, Stanek JR, Finlay JL, AbdelBaki MS. Meta-Analysis of Treatment Modalities in Metastatic Atypical Teratoid/Rhabdoid Tumors in Children. Pediatr Neurol 2020 Jul;108:106-112.
  • 28. Park M, Han JW, Hahn SM, et al. Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System in Children Under the Age of 3 Years. Cancer Res Treat. 2021; 53(2): 378-388.

Çocukluk Çağındaki Rabdoid Tümörlerin Klinik Özellikleri ve Sonuçları

Year 2023, Volume: 11 Issue: 3, 78 - 85, 15.10.2023

Abstract

Amaç: Pediatrik Rabdoid tümörler oldukça agresif, kötü prognozlu tümörlerdir. Şu anda standart tedaviler hakkında fikir birliği yoktur. Bu çalışmada pediatrik rabdoid tümörlerin klinik özelliklerinin ve tedavi sonuçlarının değerlendirilmesi amaçlanmıştır.
Gereç ve Yöntem: 2013-2020 yılları arasındaki veri setinden sekiz malign rabdoid tümör retrospektif olarak değerlendirildi.
Bulgular: 8 hastanın 5'i erkekti (Erkek/kadın: 5/3). Ortanca yaş 24 aydı, 6 hasta (%70) 3 yaşın (4 ay-10 yaş) altındaydı. Tümör lokalizasyonları heterojendi (5 merkezi sinir sistemi, 1 multifokal, 1 böbrek ve 1 mesane). Bir hastada germ line heterozigot SMARCB1 mutasyonunu saptandı. Hastalarda Wernicke benzeri ensefalopati, vinkristin nöropatisi, veno-tıkayıcı hastalık başta olmak üzere hematolojik toksisite/mukozit ve febril nötropeni görülmüştür. Beş hasta progresif hastalık nedeniyle öldü (%62). Tüm hastaların ortanca takip süresi 24,5 aydı (minimum- maximum: 6-41 ay). 2 yıllık olaysız ve genel sağkalım oranları sırasıyla %37,5 ve %50' olarak hesaplanmıştır.
Sonuç: Pediatrik rabdoid tümörlerin çeşitli yaş ve lokalizasyonlarda ortaya çıkabileceği, ancak çoğunlukla 3 yaş altı ve santral sinir sistemi olabileceği akılda tutulmalıdır. Nadir görülmesi nedeniyle deneyim sınırlıdır, ancak otolog hematopoietik kök hücre transplantasyonu ile yüksek doz kemoterapinin eklenmesi, transplantasyondan önce tam remisyona ulaşan hasta alt grubunda etkili olabilir. Yoğun tedavilerden kaynaklanan toksisiteler yönetilebilir, ancak hayatta kalma oranlarını iyileştirmek için yeni hedefli tedaviler gereklidir.

References

  • 1. Haas JE, Palmer NF, Weinberg AG, Beckwith JB. Ultrastructure of malignant rhabdoid tumor of the kidney. A distinctive renal tumor of children. Hum Pathol1981;12(7):646-657.
  • 2. Gellera JI, J. Rothb JJ, Biegelb JA Biology and Treatment of Rhabdoid Tumor. Crit Rev Oncog 2015; 20(3-4): 199– 216.
  • 3. Fossey M, Li H, Afzal S, et al. Atypical teratoid rhabdoid tumor in the first year of life: the Canadian ATRT registry experience and review of the literature. J Neurooncol. 2017;132(1):155-162.
  • 4. Fischer-Valuck BW, Chen I, Srivastava AJ, et al. Assessment of the treatment approach and survival outcomes in a modern cohort of patients with atypical teratoid rhabdoid tumors using the National Cancer Database. Cancer. 2017;123(4):682-687.
  • 5. Al-Hussaini M, Dissi N, Souki C, Amayiri N. Atypical teratoid/ rhabdoid tumor, an immunohistochemical study of potential diagnostic and prognostic markers. Neuropathology. 2016;36(1):17-26.
  • 6. Koga Y, Matsuzaki A, Suminoe A, Hatano M, Saito Y, Kinoshita Y, Tajiri T, Taguchi T, Kohashi K, Oda Y, Tsuneyoshi M, Hara T. Long-term survival after autologous peripheral blood stem cell transplantation in two patients with malignant rhabdoid tumor of the kidney.Pediatr Blood Cancer.2009;52(7):888–890.
  • 7. Morgenstern DA, Gibson S, Brown T, Sebire NJ, Anderson J. Clinical and Pathological Features of Paediatric Malignant Rhabdoid Tumors. Pediatr Blood Cancer. 2010;54:29–34.
  • 8. Buscariollo DL, Park HS, Roberts KB, Yu JB. Survival outcomes in atypical teratoid rhabdoid tumor for patients undergoing radiotherapy in a Surveillance, Epidemiology, and End Results analysis. Cancer. 2012;118(17): 4212-4219.
  • 9. Samaras V, Stamatelli A, Samaras E, et al. Atypical teratoid/rhabdoid tumor of the central nervous system in an 18- year-old patient. Clin Neuropathol. 2009;28(1):1-10.
  • 10. Appaji L, Aruna Kumari BS, Babu KG, et al. Atypical teratoid rhabdoid tumor of the central nervous system: Case series from a regional Tertiary Care Cancer Centre in South India. J Cancer Res Ther. 2017;13(6):1015-1022.
  • 11. Masoudi MS, Derakhshan N, Ghaffarpasand F, Geramizadeh B, Heydari M. Multifocal atypical teratoid/rhabdoid tumor: a rare entity. Childs Nerv Syst. 2016;32(12):2287-2288.
  • 12. Li F, Gui Q, Piao Y. Primary supratentorial atypical teratoid/rhabdoid tumor in children: a report of two cases. J Child Neurol. 2013;28(3):399-403.
  • 13. 13. Li D, Heiferman DM, Syed HR, et al. Pediatric primary spinal atypical teratoid rhabdoid tumor: a case series and review of the literature . J Neurosurg Pediatr. 2019;1-17.
  • 14. Sharma A, Sable MN, Singla R, Dash C, Sahu RN. Lateral Ventricle Atypical Teratoid/Rhabdoid Tumor (AT/RT): Case Report and Review of Literature Neurol India Nov-Dec 2020;68(6):1465-1468.
  • 15. Furtwangler R, Kager L, Melchior P et al. High‐ dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival—The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience. Pediatr Blood Cancer 2018 Jan;65(1):1-7.
  • 16. Heuvel-Eibrink MM, Rehorst H, Coulom A et al. Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: a report of the SIOP renal tumour study group. Pediatr Blood Cancer 2011 May;56(5):733-737.
  • 17. Morizane A, Nakahara I, Takahashi JA, et al. A malignant rhabdoid tumor appearing simultanously in the kidney and the brain of an ainfant: case report. No Shinkei Geka.1997. Jul ;25(7):665-669.
  • 18. Assadi A, Alzubaidi A, Lesmana H et al. Pure Bladder Malignant Rhabdoid Tumor Successfully Treated With Partial Cystectomy, Radiation, and Chemotherapy: A Case Report and Review of the Literature. J Pediatr Hematol Oncol 2020 Oct 7. doi: 10.1097/MPH.0000000000001963.
  • 19. Cefalo MG, De Ioris MA, Cacchione A, et al. Wernicke encephalopathy in pediatric neuro-oncology: presentation of 2 cases and review of literature. J Child Neurol.2014. Dec;29(12):181-185.
  • 20. White ML, Zhang Y, Andrew LG, et al. MR imaging with diffusion-weighted imaging in acute and chronic Wernicke encephalopathy. Am J Neuroradiol. 2005 Oct;26(9):2306-2310.
  • 21. Oda Y, Tsuneyoshi M. Extrarenal rhabdoid tumors of soft tissue: clinicopathological and molecular genetic review and distinction from other soft tissue sarcomas with rhabdoid features. Pathol Int 2006 Jun;56(6):287-295.
  • 22. Babgi M, Samkari A, Al-Mehdar A, Abdullah S. Atypical Teratoid/Rhabdoid Tumor of the Spinal Cord in a Child: Case Report and Comprehensive Review of the Literature. Pediatr Neurosurg. 2018;53(4):254-262.
  • 23. Appaji L, Aruna Kumari BS, Babu KG, et al. Atypical teratoid rhabdoid tumor of the central nervous system: Case series from a regional Tertiary Care Cancer Centre in South India. J Cancer Res Ther.
  • 24. Hong CR, Kang HJ, Ju HY, et al. Extra-cranial Malignant Rhabdoid Tumor in Children: A Single Institute Experience. Cancer Res Treat. 2015;47(4):889-896.
  • 25. Reinhard E, Reinert R, Beier R, et al. Rhabdoid tumors in children: prognostic factors in 70 patients diagnosed in Germany. Oncol Rep 2008 Mar;19(3):819-823.
  • 26. Reddy AT, Strother RD, Alexander R. Judkins AR, et al. Efficacy of High-Dose Chemotherapy and ThreeDimensional Conformal Radiation for Atypical Teratoid/Rhabdoid Tumor: A Report From the Children’s Oncology Group Trial ACNS0333. J Clin Oncol 2020 Apr 10;38(11):1175-1185.
  • 27. Underiner RM, Eltobgy M, Stanek JR, Finlay JL, AbdelBaki MS. Meta-Analysis of Treatment Modalities in Metastatic Atypical Teratoid/Rhabdoid Tumors in Children. Pediatr Neurol 2020 Jul;108:106-112.
  • 28. Park M, Han JW, Hahn SM, et al. Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System in Children Under the Age of 3 Years. Cancer Res Treat. 2021; 53(2): 378-388.
There are 28 citations in total.

Details

Primary Language English
Subjects Pediatric Hematology and Oncology
Journal Section Original Articles
Authors

Zeliha Guzelkucuk 0000-0003-1462-6867

Derya Özyörük 0000-0002-9615-6522

Arzu Yazal Erdem 0000-0003-1043-8471

Ayça Koca Yozgat 0000-0001-6690-721X

Can Barış Aker 0000-0002-2641-5875

İnci Yaman Bajin 0000-0003-1305-4326

Suna Emir 0000-0002-0702-7869

Namık Yaşar Özbek 0000-0001-6857-0681

Publication Date October 15, 2023
Acceptance Date September 26, 2023
Published in Issue Year 2023 Volume: 11 Issue: 3

Cite

Vancouver Guzelkucuk Z, Özyörük D, Yazal Erdem A, Koca Yozgat A, Aker CB, Yaman Bajin İ, Emir S, Özbek NY. Clinical Characteristics and Outcomes of Rhabdoid Tumors in Childhood. pediatr pract res. 2023;11(3):78-85.