Онкопедиатрия. 2018; 5: 268-277
Атипичная тератоидно-рабдоидная опухоль спинного мозга: клинический случай
https://doi.org/10.15690/onco.v5i4.1970Аннотация
Обоснование. Атипичная тератоидно-рабдоидная опухоль (АТРО) центральной нервной системы — это агрессивная злокачественная опухоль, которая встречается у детей преимущественно в возрасте до 3 лет. Характеризуется делецией и/или мутацией гена SMARCB1/INI1, который локализуется на длинном плече хромосомы 22q11, в результате чего происходит потеря ядерной экспрессии белка INI1, что может быть обнаружено путем иммуногистохимического исследования с анти-INI1-антителом. Данные опухоли диагностируют преимущественно в головном мозге, при этом локализация в спинном мозге крайне редка, с единичными публикациями клинических наблюдений.
Описание клинического случая. Представлен клинический пример АТРО с локализацией в грудном и поясничном отделах спинного мозга у пациента в возрасте 2 лет. По данным комплексного обследования, после проведенного хирургического лечения в объеме удаления опухоли с последующей химиолучевой терапией у ребенка зарегистрирована ремиссия. На момент написания статьи бессобытийная выживаемость для пациента составила 27 мес.
Заключение. Согласно обзору ранее опубликованных случаев АТРО спинного мозга, наиболее частой локализацией опухоли является шейный отдел спинного мозга. При этом максимальная общая выживаемость составляет 18 мес, а средняя общая выживаемость — 9 мес. В нашем клиническом примере мы демонстрируем продолжительный полный эффект комплексного лечения АТРО.
Список литературы
1. Ostrom QT, Chen Y, M de Blank P, et al. The descriptive epidemiology of atypical teratoid/rhabdoid tumors in the United States, 2001–2010. Neuro Oncol. 2014;16(10):1392–1399. doi: 10.1093/neuonc/nou090.
2. Lau CS, Mahendraraj K, Chamberlain RS. Atypical teratoid rhabdoid tumors: a population-based clinical outcomes study involving 174 patients from the Surveillance, Epidemiology, and End Results database (1973–2010). Cancer Manag Res. 2015;7:301–309. doi: 10.2147/CMAR.S88561.
3. Hilden JM, Meerbaum S, Burger P, et al. Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. J Clin Oncol. 2004;22(14):2877–2884. doi: 10.1200/JCO.2004.07.073.
4. Weiss E, Behring B, Behnke J, et al. Treatment of primary malignant rhabdoid tumor of the brain: report three cases and review of the literature. J Radiat Oncol Biol Phys. 1998;41(5):1013–1019. doi: 10.1016/s0360-3016(98)00106-0.
5. Желудкова О.Г., Коршунов А.Г., Горбатых С.В., и др. Злокачественные тератоид-рабдоидные опухоли центральной нервной системы у детей // Вопросы гематологии/онкологии и иммунопатологии в педиатрии. — 2003. — Т.2. — №3 — С. 32–39.
6. Beckwith JB, Palmer NF. Histopathology and prognosis of Wilms tumors: results from the First National Wilms’ Tumor Study. Cancer. 1978;41(5):1937–1948. doi: 10.1002/1097-0142(197805)41:5<1937::aidcncr2820410538>3.0.co;2-u.
7. Rorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of anentity.J Neurosurg. 1996;85(1):56– 65. doi: 10.3171/jns.1996.85.1.0056.
8. Judkins AR, Eberhart CG, Wesseling P. Atypical teratoid/rhabdoid tumor. In: World Health Organization classification of tumors: pathology and genetics of central nervous system. Lyon: IARC Press; 2007. рр. 147–149.
9. Biegel JA, Zhou JY, Rorke LB, et al. Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res. 1999;59(1):74–79.
10. Hasselblatt M, Nagel I, Oyen F, et al. SMARCA4- mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Acta Neuropathol. 2014 Sep;128(3):453– 456. doi: 10.1007/s00401-014-1323-x.
11. Johann PD, Erkek S, Zapatka M, et al. Atypical teratoid/rhabdoid tumors are comprised of three epigenetic subgroups with distinct enhancer landscapes. Cancer Cell. 2016;29(3):379–393. doi:10.1016/j.ccell.2016.02.001.
12. Howlett DC, King AP, Jarosz JM, et al. Imaging and pathological features of primary malignant rhabdoid tumours of the brain and spine. Neuroradiology. 1997;39(10):719–723. doi: 10.1007/s002340050494.
13. Tamiya T, Nakashima H, Ono Y, et al. Spinal atypical teratoid/rhabdoid tumor in an infant. Pediatr Neurosurg. 2000;32(3):145–149. doi: 10.1159/000028920.
14. Bambakidis NC, Robinson S, Cohen M, Cohen AR. Atypical teratoid/rhabdoid tumors of the central nervous system: Clinical, radiographic and pathologic features. Pediatr Neurosurg. 2002;37(2):64–70. doi: 10.1159/000065107.
15. Cheng YC, Lirng JF, Chang FC, et al. Neuroradiological findings in atypical teratoid/rhabdoid tumor of the central nervous system. Acta Radiol. 2005;46(1):89– 96. doi: 10.1080/02841850510020987.
16. Bannykh S, Duncan C, Ogle E, Baehring JM. Atypical teratoid/rhabdoid tumor of the spinal canal. J Neurooncol. 2006;76(2):129–130. doi: 10.1007/s11060-006-4032-z.
17. Tanizaki Y, Oka H, Utsuki S, et al. Atypical teratoid/ rhabdoid tumor arising from the spinal cord — case report and review of the literature. Clin Neuropathol. 2006;25(2):81–86.
18. Moeller KK, Coventry S, Jernigan S, Moriarty TM. Atypical teratoid/rhabdoid tumor of the spine. AJNR Am J Neuroradiol. 2007;28(3):593–595.
19. Yang CS, Jan YJ, Wang J, et al. Spinal atypical teratoid/ rhabdoid tumor in a 7-year-old boy. Neuropathology. 2007;27(2):139–144. doi: 10.1111/j.1440-1789.2007.00752.x.
20. Seno T, Kawaguchi T, Yamahara T, et al. An immunohistochemical and electron microscopic study of atypical teratoid/rhabdoid tumor. Brain Tumor Pathol. 2008;25(2):79–83. doi:10.1007/s10014-008-0236-6.
21. Fridley JS, Chamoun RB, Whitehead WE, et al. Malignant rhabdoid tumor of the spine in an infant: case report and review of the literature. Pediatr Neurosurg. 2009;45(3):237–243. doi: 10.1159/000224622.
22. Niwa T, Aida N, Tanaka M, et al. Diffusion-weighted imaging of an atypical teratoid/rhabdoid tumor of the cervical spine. Magn Reson Med Sci. 2009;8(3):135– 138. doi: 10.2463/mrms.8.135.
23. Heuer GG, Kiefer H, Judkins AR, et al. Surgical treatment of a clival-C2 atypical teratoid/rhabdoid tumor. J Neurosurg Pediatr. 2010;5(1):75–79. doi: 10.3171/2009.8.PEDS08421.
24. Nicolaides T, Tihan T. Horn B, et al. High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol. 2010;98(1):117–123. doi: 10.1007/s11060-009-0071-6.
25. Stabouli S, Sdougka M, Tsitspoulos P, et al. Primary atypical teratoid/rhabdoid tumor of the spine in an infant. Hippokratia. 2010;14(4):286–288.
26. Woehrer A, Slavc I, Waldhoer T, et al. Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996–2006. Cancer. 2010;116(24):5725– 5732. doi: 10.1002/cncr.25540.
27. Bruggers CS, Bleyl SB, Pysher T, et al. Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. Pediatr Blood Cancer. 2011;56(7):1026– 1031. doi: 10.1002/pbc.22757.
28. Xin X, Zhu B, Shen. J, et al. A primary spinal extradural atypical teratoid/ rhabdoid tumor of the cervical spine with bony involvement.J Child Neurol. 2014;29(5):670– 673. doi: 10.1177/0883073813509017.
29. Dhir A, Tekautz T, Recinos V, et al. Lumbar spinal atypical teratoid rhabdoid tumor. J Clin Neurosci. 2015;22(12):1988–1989. doi: 10.1016/j.jocn.2015.06.007.
30. Mankotia DS, Tandon V, Sharma BS, et al. A case of primary spinal atypical teratoid/rhabdoid tumor in a 5-year-old child. J Pediatr Neurosci. 2016;11(2):121– 124. doi: 10.4103/1817-1745.187634.
31. 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. doi: 10.1159/000488459.
32. Athale UH, Duckworth J, Odame I, Barr R. Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies. J Pediatr Hematol Oncol. 2009;31(9):651–663. doi: 10.1097/MPH.0b013e3181b258a9.
33. Chi SN, Zimmerman MA, Yao X, et al. Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol. 2009;27(3):385–389. doi: 10.1200/JCO.2008.18.7724.
34. Olson TA, Bayar E, Kosnik E, et al. Successful treatment of disseminated central nervous system malignant rhabdoid tumor. J Pediatr Hematol Oncol. 1995;17(1):71–75. doi: 10.1097/00043426-199502000-00013.
35. Lafay-Cousin L, Hawkins C, Carret AS, et al. Central nervous system atypical teratoid rhabdoid tumours: the Canadian Paediatric Brain Tumour Consortium experience. Eur J Cancer. 2012;48(3):353–359. doi: 10.1016/j.ejca.2011.09.005.
Oncopediatrics. 2018; 5: 268-277
Atypical Teratoid Rhabdoid Tumor of Spinal Cord: A Clinical Case
https://doi.org/10.15690/onco.v5i4.1970Abstract
Background. Atypical teratoid rhabdoid tumor (AT/RT) of the central nervous system (CNS) is an aggressive malignant tumor, mostly affecting children younger than 3 years old. AT/RT is characterized by the deletion and/or mutation of gene SMARCB1/INI1, located in the long arm 22q11, leading to a loss of the nuclear expression of protein INI1, which may be detected by immunohistochemical assay with the anti-INI1 antibody. These tumors are mostly located in the brain, and their incidence in the spinal cord is very rare, with just a few publications on their clinical observations.
Description of a Clinical Case. A clinical example of AT/RT in a two-year patient with the tumor located in the thoracic and lumbar spinal cord is described. The patient underwent surgical treatment consisting in the tumor resection and also chemoradiotherapy. Evaluation showed complete response. By the moment this paper was written, the duration of event-free survival of this patient was 27 months.
Conclusion. This paper reviews the earlier published cases of spinal cord AT/RT, in which the most common location of the tumor was the cervical portion of the spinal cord. The maximum overall survival was 18 months, and the average overall survival was 9 months. In our clinical example, we demonstrate a long-term complete response to the multimodal treatment for AT/RT.
References
1. Ostrom QT, Chen Y, M de Blank P, et al. The descriptive epidemiology of atypical teratoid/rhabdoid tumors in the United States, 2001–2010. Neuro Oncol. 2014;16(10):1392–1399. doi: 10.1093/neuonc/nou090.
2. Lau CS, Mahendraraj K, Chamberlain RS. Atypical teratoid rhabdoid tumors: a population-based clinical outcomes study involving 174 patients from the Surveillance, Epidemiology, and End Results database (1973–2010). Cancer Manag Res. 2015;7:301–309. doi: 10.2147/CMAR.S88561.
3. Hilden JM, Meerbaum S, Burger P, et al. Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. J Clin Oncol. 2004;22(14):2877–2884. doi: 10.1200/JCO.2004.07.073.
4. Weiss E, Behring B, Behnke J, et al. Treatment of primary malignant rhabdoid tumor of the brain: report three cases and review of the literature. J Radiat Oncol Biol Phys. 1998;41(5):1013–1019. doi: 10.1016/s0360-3016(98)00106-0.
5. Zheludkova O.G., Korshunov A.G., Gorbatykh S.V., i dr. Zlokachestvennye teratoid-rabdoidnye opukholi tsentral'noi nervnoi sistemy u detei // Voprosy gematologii/onkologii i immunopatologii v pediatrii. — 2003. — T.2. — №3 — S. 32–39.
6. Beckwith JB, Palmer NF. Histopathology and prognosis of Wilms tumors: results from the First National Wilms’ Tumor Study. Cancer. 1978;41(5):1937–1948. doi: 10.1002/1097-0142(197805)41:5<1937::aidcncr2820410538>3.0.co;2-u.
7. Rorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of anentity.J Neurosurg. 1996;85(1):56– 65. doi: 10.3171/jns.1996.85.1.0056.
8. Judkins AR, Eberhart CG, Wesseling P. Atypical teratoid/rhabdoid tumor. In: World Health Organization classification of tumors: pathology and genetics of central nervous system. Lyon: IARC Press; 2007. rr. 147–149.
9. Biegel JA, Zhou JY, Rorke LB, et al. Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res. 1999;59(1):74–79.
10. Hasselblatt M, Nagel I, Oyen F, et al. SMARCA4- mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Acta Neuropathol. 2014 Sep;128(3):453– 456. doi: 10.1007/s00401-014-1323-x.
11. Johann PD, Erkek S, Zapatka M, et al. Atypical teratoid/rhabdoid tumors are comprised of three epigenetic subgroups with distinct enhancer landscapes. Cancer Cell. 2016;29(3):379–393. doi:10.1016/j.ccell.2016.02.001.
12. Howlett DC, King AP, Jarosz JM, et al. Imaging and pathological features of primary malignant rhabdoid tumours of the brain and spine. Neuroradiology. 1997;39(10):719–723. doi: 10.1007/s002340050494.
13. Tamiya T, Nakashima H, Ono Y, et al. Spinal atypical teratoid/rhabdoid tumor in an infant. Pediatr Neurosurg. 2000;32(3):145–149. doi: 10.1159/000028920.
14. Bambakidis NC, Robinson S, Cohen M, Cohen AR. Atypical teratoid/rhabdoid tumors of the central nervous system: Clinical, radiographic and pathologic features. Pediatr Neurosurg. 2002;37(2):64–70. doi: 10.1159/000065107.
15. Cheng YC, Lirng JF, Chang FC, et al. Neuroradiological findings in atypical teratoid/rhabdoid tumor of the central nervous system. Acta Radiol. 2005;46(1):89– 96. doi: 10.1080/02841850510020987.
16. Bannykh S, Duncan C, Ogle E, Baehring JM. Atypical teratoid/rhabdoid tumor of the spinal canal. J Neurooncol. 2006;76(2):129–130. doi: 10.1007/s11060-006-4032-z.
17. Tanizaki Y, Oka H, Utsuki S, et al. Atypical teratoid/ rhabdoid tumor arising from the spinal cord — case report and review of the literature. Clin Neuropathol. 2006;25(2):81–86.
18. Moeller KK, Coventry S, Jernigan S, Moriarty TM. Atypical teratoid/rhabdoid tumor of the spine. AJNR Am J Neuroradiol. 2007;28(3):593–595.
19. Yang CS, Jan YJ, Wang J, et al. Spinal atypical teratoid/ rhabdoid tumor in a 7-year-old boy. Neuropathology. 2007;27(2):139–144. doi: 10.1111/j.1440-1789.2007.00752.x.
20. Seno T, Kawaguchi T, Yamahara T, et al. An immunohistochemical and electron microscopic study of atypical teratoid/rhabdoid tumor. Brain Tumor Pathol. 2008;25(2):79–83. doi:10.1007/s10014-008-0236-6.
21. Fridley JS, Chamoun RB, Whitehead WE, et al. Malignant rhabdoid tumor of the spine in an infant: case report and review of the literature. Pediatr Neurosurg. 2009;45(3):237–243. doi: 10.1159/000224622.
22. Niwa T, Aida N, Tanaka M, et al. Diffusion-weighted imaging of an atypical teratoid/rhabdoid tumor of the cervical spine. Magn Reson Med Sci. 2009;8(3):135– 138. doi: 10.2463/mrms.8.135.
23. Heuer GG, Kiefer H, Judkins AR, et al. Surgical treatment of a clival-C2 atypical teratoid/rhabdoid tumor. J Neurosurg Pediatr. 2010;5(1):75–79. doi: 10.3171/2009.8.PEDS08421.
24. Nicolaides T, Tihan T. Horn B, et al. High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol. 2010;98(1):117–123. doi: 10.1007/s11060-009-0071-6.
25. Stabouli S, Sdougka M, Tsitspoulos P, et al. Primary atypical teratoid/rhabdoid tumor of the spine in an infant. Hippokratia. 2010;14(4):286–288.
26. Woehrer A, Slavc I, Waldhoer T, et al. Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996–2006. Cancer. 2010;116(24):5725– 5732. doi: 10.1002/cncr.25540.
27. Bruggers CS, Bleyl SB, Pysher T, et al. Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. Pediatr Blood Cancer. 2011;56(7):1026– 1031. doi: 10.1002/pbc.22757.
28. Xin X, Zhu B, Shen. J, et al. A primary spinal extradural atypical teratoid/ rhabdoid tumor of the cervical spine with bony involvement.J Child Neurol. 2014;29(5):670– 673. doi: 10.1177/0883073813509017.
29. Dhir A, Tekautz T, Recinos V, et al. Lumbar spinal atypical teratoid rhabdoid tumor. J Clin Neurosci. 2015;22(12):1988–1989. doi: 10.1016/j.jocn.2015.06.007.
30. Mankotia DS, Tandon V, Sharma BS, et al. A case of primary spinal atypical teratoid/rhabdoid tumor in a 5-year-old child. J Pediatr Neurosci. 2016;11(2):121– 124. doi: 10.4103/1817-1745.187634.
31. 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. doi: 10.1159/000488459.
32. Athale UH, Duckworth J, Odame I, Barr R. Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies. J Pediatr Hematol Oncol. 2009;31(9):651–663. doi: 10.1097/MPH.0b013e3181b258a9.
33. Chi SN, Zimmerman MA, Yao X, et al. Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol. 2009;27(3):385–389. doi: 10.1200/JCO.2008.18.7724.
34. Olson TA, Bayar E, Kosnik E, et al. Successful treatment of disseminated central nervous system malignant rhabdoid tumor. J Pediatr Hematol Oncol. 1995;17(1):71–75. doi: 10.1097/00043426-199502000-00013.
35. Lafay-Cousin L, Hawkins C, Carret AS, et al. Central nervous system atypical teratoid rhabdoid tumours: the Canadian Paediatric Brain Tumour Consortium experience. Eur J Cancer. 2012;48(3):353–359. doi: 10.1016/j.ejca.2011.09.005.
