Journal of Neuro-Oncology

, Volume 72, Issue 1, pp 77–84 | Cite as

Continuous remission of newly diagnosed and relapsed central nervous system atypical teratoid/rhabdoid tumor

  • Mary Ann Zimmerman
  • Liliana C. Goumnerova
  • Mark Proctor
  • R. Michael Scott
  • Karen Marcus
  • Scott L. Pomeroy
  • Christopher D. Turner
  • Susan N. Chi
  • Christine Chordas
  • Mark W. Kieran

Abstract

Atypical teratoid/rhabdoid tumors (AT/RT) are highly malignant lesions of childhood that carry a very poor prognosis. AT/RT can occur in the central nervous system (CNS AT/RT) and disease in this location carries an even worse prognosis with a median survival of 7 months. In spite of multiple treatment regimens consisting of maximal surgical resection (including second look surgery), radiation therapy (focal and craniospinal), and multi-agent intravenous, oral and intrathecal chemotherapy, with or without high-dose therapy and stem cell rescue, only seven long-term survivors of CNS AT/RT have been reported, all in patients with newly diagnosed disease. For this reason, many centers now direct such patients, particularly those under 5 years of age, or those with recurrent disease, towards comfort care rather than attempt curative therapy. We now report on four children, two with newly diagnosed CNS AT/RT and two with progressive disease after multi-agent chemotherapy who are long term survivors (median follow-up of 37 months) using a combination of surgery, radiation therapy, and intensive chemotherapy. The chemotherapy component was modified from the Intergroup Rhabdomyosarcoma Study Group (IRS III) parameningeal protocol as three of the seven reported survivors in the literature were treated using this type of therapy. Our four patients, when added to the three reported survivors in the literature using this approach, suggest that patients provided this aggressive therapy can significantly alter the course of their disease. More importantly, we report on the first two survivors after relapse with multi-agent intravenous and intrathecal chemotherapy treated with this modified regimen.

Keywords

atypical teratoid/rhabdoid tumor (AT/RT) brain tumor pediatric rhabdoid treatment 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Packer, RJ, Biegel, JA, Blaney, S, Finlay, J, Geyer, JR, Heideman, R, Hilden, J, Janss, AJ, Kun, L, Vezina, G, Rorke, LB, Smith, M 2002Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshopJ Pediatr Hematol Oncol24337342Google Scholar
  2. 2.
    Briner, J, Bannwart, F, Kleihues, P, Odermatt, B, Janzer, R, Willi, U, Boltshauser, E 1985Malignant small cell tumor of the brain with intermediate filaments – a case of a primary cerebral rhabdoid tumorPediatr Pathol3117118Google Scholar
  3. 3.
    Lefkowitz, IB, Rorke, LB, Packer, RJ, Sutton, LN, Siegel, KR, Katnick, RJ 1987Atypical teratoid tumor of infancy: definition of an entityAnn Neurol22448449Google Scholar
  4. 4.
    Burger, PC, Yu, IT, Tihan, T, Friedman, HS, Strother, DR, Kepner, JL, Duffner, PK, Kun, LE, Perlman, EJ 1998Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a Pediatric Oncology Group studyAm J Surg Pathol2210831092Google Scholar
  5. 5.
    Rorke, LB, Packer, RJ, Biegel, JA 1996Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entityJ Neurosurg855665Google Scholar
  6. 6.
    Hilden, JM, Watterson, J, Longee, DC, Moertel, CL, Dunn, ME, Kurtzberg, J, Scheithauer, BW 1998Central nervous system atypical teratoid tumor/rhabdoid tumor: response to intensive therapy and review of the literatureJ Neurooncol40265275Google Scholar
  7. 7.
    Weiss, E, Behring, B, Behnke, J, Christen, HJ, Pekrun, A, Hess, CF 1998Treatment of primary malignant rhabdoid tumor of the brain: report of three cases and review of the literature [see comments]Int J Radiat Oncol Biol Phys4110131019Google Scholar
  8. 8.
    Weinblatt, M, Kochen, J 1992Rhabdoid tumor of the central nervous systemMed Pediatr Oncol20258Google Scholar
  9. 9.
    Olson, TA, Bayar, E, Kosnik, E, Hamoudi, AB, Klopfenstein, KJ, Pieters, RS, Ruymann, FB 1995Successful treatment of disseminated central nervous system malignant rhabdoid tumorJ Pediatr Hematol Oncol177175Google Scholar
  10. 10.
    Yim , YS, Mahoney, DH,Jr., Oshman, DG 1991Hemiparesis and ischemic changes of the white matter after intrathecal therapy for children with acute lymphocytic leukemiaCancer6720582061Google Scholar
  11. 11.
    Phanthumchinda, K, Intragumtornchai, T, Kasantikul, V 1991Stroke-like syndrome, mineralizing microangiopathy, and neuroaxonal dystrophy following intrathecal methotrexate therapyNeurology4118471848Google Scholar
  12. 12.
    Kastenbauer, S, Wiesmann, M, Pfister, HW 2000Cerebral vasculopathy and multiple infarctions in a woman with carcinomatous meningitis while on treatment with intrathecal methotrexateJ Neurooncol484145Google Scholar
  13. 13.
    Constantini, S, Umansky, F, Nesher, R, Shalit, M 1987Transient blindness following intracranial pressure changes in a hydrocephalic child with a V-P shuntChilds Nerv Syst3379381Google Scholar
  14. 14.
    Newman, NJ 1994Bilateral visual loss and disc edema in a 15-year-old girlSurv Ophthalmol38365370Google Scholar
  15. 15.
    Kulkarni, AG, Amte, AP, Brid, NS, Yadav, SR 1998Bilateral optic atrophy with hydrocephalusPostgrad Med J74369370Google Scholar
  16. 16.
    Albert, DM, Wong, VG, Henderson, ES 1967Ocular complications of vincristine therapyArch Ophthalmol78709713Google Scholar
  17. 17.
    Byrd , RL, Rohrbaugh, TM, Raney, RB,Jr., Norris, DG 1981Transient cortical blindness secondary to vincristine therapy in childhood malignanciesCancer473740Google Scholar
  18. 18.
    Rorke, LB, Packer, R, Biegel, J 1995Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhoodJ Neurooncol242128Google Scholar
  19. 19.
    Lutterbach, J, Liegibel, J, Koch, D, Madlinger, A, Frommhold, H, Pagenstecher, A 2001Atypical teratoid/rhabdoid tumors in adult patients: case report and review of the literatureJ Neurooncol524956Google Scholar
  20. 20.
    Biegel, JA, Fogelgren, B, Wainwright, LM, Zhou, JY, Bevan, H, Rorke, LB 2000Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumorGenes Chromosomes Cancer283137PubMedGoogle Scholar
  21. 21.
    Roberts, CW, Galusha, SA, McMenamin, ME, Fletcher, CD, Orkin, SH 2000Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in miceProc Natl Acad Sci USA971379613800Google Scholar
  22. 22.
    Agranovich, AL, Ang, LC, Griebel, RW, Kobrinsky, NL, Lowry, N, Tchang, SP 1992Malignant rhabdoid tumor of the central nervous system with subarachnoid disseminationSurg Neurol37410414Google Scholar
  23. 23.
    Arrazola, J, Pedrosa, I, Mendez, R, Saldana, C, Scheithauer, BW, Martinez, A 2000Primary malignant rhabdoid tumour of the brain in an adultNeuroradiology42363367Google Scholar
  24. 24.
    Behring, B, Bruck, W, Goebel, HH, Behnke, J, Pekrun, A, Christen, HJ, Kretzschmar, HA 1996Immunohistochemistry of primary central nervous system malignant rhabdoid tumors: report of five cases and review of the literatureActa Neuropathol (Berl)91578586Google Scholar
  25. 25.
    Biegel, JA, Rorke, LB, Packer, RJ, Emanuel, BS 1990Monosomy 22 in rhabdoid or atypical tumors of the brainJ Neurosurg73710714Google Scholar
  26. 26.
    Biggs, PJ, Garen, PD, Powers, JM, Garvin, AJ 1987Malignant rhabdoid tumor of the central nervous systemHum Pathol18332337Google Scholar
  27. 27.
    Caldemeyer, KS, Smith, RR, Azzarelli, B, Boaz, JC 1994Primary central nervous system malignant rhabdoid tumor: CT and MR appearance simulates a primitive neuroectodermal tumorPediatr Neurosurg21232236Google Scholar
  28. 28.
    Chang, CH, Ramirez, N, Sakr, WA 1989Primitive neuroectodermal tumor of the brain associated with malignant rhabdoid tumor of the liver: a histologic, immunohistochemical, and electron microscopic studyPediatr Pathol9307319Google Scholar
  29. 29.
    Chi, YW, Lee, WH, Hwang, RC, Liao, HB, Cheng, SN, Chu, ML, Chou, TY, Ho, PS 1989Intracranial malignant rhabdoid tumor: report of one caseZhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi30316322Google Scholar
  30. 30.
    Chou, SM, Anderson, JS 1991Primary CNS malignant rhabdoid tumor (MRT): report of two cases and review of literatureClin Neuropathol10110Google Scholar
  31. 31.
    Cohn, RD, Frank, Y, Stanek, AE, Kalina, P 1995Malignant rhabdoid tumor of the brain and kidney in a child: clinical and pathologic featuresPediatr Neurol136568Google Scholar
  32. 32.
    Cossu, A, Massarelli, G, Manetto, V, Viale, G, Tanda, F, Bosincu, L, Iuzzolino, P, Cossu, S, Padovani, R, Eusebi, V 1993Rhabdoid tumours of the central nervous system. Report of three cases with immunocytochemical and ultrastructural findingsVirchows Arch A Pathol Anat Histopathol4228185Google Scholar
  33. 33.
    Chung, YN, Wang, KC, Shin, SH, Kim, N, Chi, JG, Min, KS, Cho, BK 2002Primary intracranial atypical teratoid/rhabdoid tumor in a child: a case reportJ Korean Med Sci17723726Google Scholar
  34. 34.
    Dang, T, Vassilyadi, M, Michaud, J, Jimenez, C, Ventureyra, EC 2003Atypical teratoid/rhabdoid tumorsChilds Nerv Syst19244248Google Scholar
  35. 35.
    Mot, P, Demaerel, P, Wilms, G, Gool, S, Sciot, R 2003Imaging features of multifocal primary rhabdoid tumour of the central nervous system with meningeal and spinal metastasesPediatr Radiol33275277Google Scholar
  36. 36.
    Guler, E, Varan, A, Soylemezoglu, F, Kudret, , Caglar, , Ba, F, Demirkazik, A, Buyyukpamuk, M 2001Extraneural metastasis in a child with atypical teratoid rhabdoid tumor of the central nervous systemJ Neurooncol545356Google Scholar
  37. 37.
    Hanna, SL, Langston, JW, Parham, DM, Douglass, EC 1993Primary malignant rhabdoid tumor of the brain: clinical, imaging, and pathologic findingsAJNR Am J Neuroradiol14107115Google Scholar
  38. 38.
    Ho, PS, Lee, WH, Chen, CY, Chou, TY, Wang, YC, Sun, MJ, Liou, WY 1990Primary malignant rhabdoid tumor of the brain: CT characteristicsJ Comput Assist Tomogr14461463Google Scholar
  39. 39.
    Horn, M, Schlote, W, Lerch, KD, Steudel, WI, Harms, D, Thomas, E 1992Malignant rhabdoid tumor: primary intracranial manifestation in an adultActa Neuropathol (Berl)83445448Google Scholar
  40. 40.
    Hasserjian, RP, Folkerth, RD, Scott, RM, Schofield, DE 1995Clinicopathologic and cytogenetic analysis of malignant rhabdoid tumor of the central nervous systemJ Neurooncol25193203Google Scholar
  41. 41.
    Izycka-Swieszewska, E, Debiec-Rychter, M, Wasag, B, Wozniak, A, Gasecki, D, Plata-Nazar, K, Bartkowiak, J, Lasota, J, Limon, J 2003A unique occurrence of a cerebral atypical teratoid/rhabdoid tumor in an infant and a spinal canal primitive neuroectodermal tumor in her fatherJ Neurooncol61219225Google Scholar
  42. 42.
    Jakate, SM, Marsden, HB, Ingram, L 1988Primary rhabdoid tumour of the brainVirchows Arch A Pathol Anat Histopathol412393397Google Scholar
  43. 43.
    Korones, DN, Meyers, SP, Rubio, A, Torres, C, Constine, LS 1999A 4-year-old girl with a ventriculoperitoneal shunt metastasis of a central nervous system atypical teratoid/rhabdoid tumorMed Pediatr Oncol32389391Google Scholar
  44. 44.
    Manhoff, DT, Rorke, LB, Yachnis, AT 1995Primary intracranial atypical teratoid/rhabdoid tumor in a child with Canavan diseasePediatr Neurosurg22214222Google Scholar
  45. 45.
    Martínez Lage , JF, Nieto, A, Sola, J, Domingo, R, Costa, TR, Poza , M 1997Primary malignant rhabdoid tumor of the cerebellumChilds Nerv Syst13418421Google Scholar
  46. 46.
    Muller, M, Hubbard, SL, Provias, J, Greenberg, M, Becker, LE, Rutka, JT 1994Malignant rhabdoid tumour of the pineal regionCan J Neurol Sci21273277Google Scholar
  47. 47.
    Munoz, A, Carrasco, A, Munoz, MJ, Esparza, J 1995Cranial rhabdoid tumor with marginal tumor cystic component and extraaxial extensionAJNR Am J Neuroradiol1617271728Google Scholar
  48. 48.
    Pimentel, J, Silva, R, Pimentel, T 2003Primary malignant rhabdoid tumors of the central nervous system: considerations about two cases of adulthood presentationJ Neurooncol61121126Google Scholar
  49. 49.
    Perilongo, G, Sutton, L, Czaykowski, D, Gusnard, D, Biegel, J 1991Rhabdoid tumor of the central nervous systemMed Pediatr Oncol19310317Google Scholar
  50. 50.
    Proust, F, Laquerriere, A, Constantin, B, Ruchoux, MM, Vannier, JP, Freger, P 1999Simultaneous presentation of atypical teratoid/rhabdoid tumor in siblingsJ Neurooncol436370Google Scholar
  51. 51.
    Reinhardt, D, Behnke-Mursch, J, Weiss, E, Christen, HJ, Kuhl, J, Lakomek, M, Pekrun, A 2000Rhabdoid tumors of the central nervous systemChilds Nerv Syst16228234Google Scholar
  52. 52.
    Roggendorf, W 1991Primative neuroectodermal tumor with focal rhabdoid componentClin Neuropathol10106Google Scholar
  53. 53.
    Satoh, H, Goishi, J, Sogabe, T, Uozumi, T, Kiya, K, Migita, K 1993Primary malignant rhabdoid tumor of the central nervous system: case report and review of the literatureSurg Neurol40429434Google Scholar
  54. 54.
    Sotelo-Avila , C, Gonzalez-Crussi, F, deMello, D, Vogler, C, Gooch, WM,3rd, Gale , G, Pena, R 1986Renal and extrarenal rhabdoid tumors in children: a clinicopathologic study of 14 patientsSemin Diagn Pathol3151163Google Scholar
  55. 55.
    Velasco, ME, Brown, JA, Kini, J, Ruppert, ES 1993Primary congenital rhabdoid tumor of the brain with neoplastic hydranencephalyChilds Nerv Syst9185190discussion 190Google Scholar
  56. 56.
    Wharton, SB, Wardle, C, Ironside, JW, Wallace, WH, Royds, JA, Hammond, DW 2003Comparative genomic hybridization and pathological findings in atypical teratoid/rhabdoid tumour of the central nervous systemNeuropathol Appl Neurobiol29254261Google Scholar
  57. 57.
    Weeks, DA, Malott, RL, Zuppan, CW, Liwnicz, BH, Beckwith, JB 1994Primitive cerebral tumor with rhabdoid features: a case of phenotypic rhabdoid tumor of the central nervous systemUltrastruct Pathol182328Google Scholar

Copyright information

© Springer 2005

Authors and Affiliations

  • Mary Ann Zimmerman
    • 1
    • 2
  • Liliana C. Goumnerova
    • 3
  • Mark Proctor
    • 3
  • R. Michael Scott
    • 3
  • Karen Marcus
    • 4
  • Scott L. Pomeroy
    • 5
  • Christopher D. Turner
    • 1
    • 2
  • Susan N. Chi
    • 1
    • 2
  • Christine Chordas
    • 1
    • 2
  • Mark W. Kieran
    • 1
    • 2
  1. 1.Department of Pediatric Oncology, Pediatric Neuro-OncologyDana-Farber Cancer InstituteBostonUSA
  2. 2.Division of Hematology/OncologyChildren’s HospitalUSA
  3. 3.Department of NeurosurgeryChildren’s HospitalUSA
  4. 4.Department of Radiation OncologyChildren’s HospitalUSA
  5. 5.Department of NeurologyChildren’s HospitalBostonUSA

Personalised recommendations