Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2020; 19: 120-124
Случай пилоидной астроцитомы ствола головного мозга
https://doi.org/10.24287/1726-1708-2020-19-4-120-124Аннотация
Глиомы низкой степени злокачественности (ГНСЗ) ствола головного мозга являются редкой нозологической группой среди опухолей головного мозга у детей. В большинстве случаев радикальное удаление опухолей данной локализации невыполнимо, поскольку связано с высоким риском развития послеоперационных неврологических осложнений. В настоящее время отсутствуют единые подходы к ведению пациентов с наличием остаточной опухоли ствола головного мозга. Кроме того, существующие протоколы лечения ГНСЗ не учитывают молекулярногенетические особенности опухоли. В данной статье описан случай пациентки с ГНСЗ ствола головного мозга после проведения биопсии. Верификация гистологического диагноза «пилоидная астроцитома», обнаружение химерного транскрипта KIAA1549-BRAF, являющегося маркером благоприятного прогноза, а также отсутствие неврологического дефицита позволило выбрать тактику динамического наблюдения, несмотря на значительный объем опухоли. У ребенка в течение длительного времени, по данным нейровизуализации, сохраняется стабилизация заболевания. Родители дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях.
Список литературы
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3. Jones D.T.W., Kocialkowski S., Liu L., Pearson D.M., Backlund L.M., Ichimura K., et al. Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. Cancer Res 2008; 68 (21): 8673– 7. DOI: 10.1158/0008-5472.CAN-08-2097
4. Korshunov A., Meyer J., Capper D., Christians A., Remke M., Witt H., et al. Combined molecular analysis of BRAF and IDH1 distinguishes pilocytic astrocytoma from diffuse astrocytoma. Acta Neuropathol 2009; 118 (3): 401–5. DOI: 10.1007/s00401-009-0550-z
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11. Upadhyaya S.A., Koschmann C., Muraszko K., Venneti S., Garton H.J., Hamstra D.A., et al. Brainstem lowgrade gliomas in children – excellent outcomes with multimodality therapy. J Child Neurol 2017; 32 (2): 194–203. DOI: 10.1177/0883073816675547
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13. Hawkins C., Walker E., Mohamed N., Zhang C., Jacob K., Shirinian M., et al. BRAF-KIAA1549 fusion predicts better clinical outcome in pediatric low-grade astrocytoma. Clin Cancer Res 2011; 17: 4790–8. DOI: 10.1158/1078-0432.CCR-11-0034
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15. Banerjee A., Jakacki R.I., Onar-Thomas A., Wu S., Nicolaides T., Young Poussaint T., et al. A phase I trial of the MEK inhibitor selumetinib (AZD6244) in pediatric patients with recurrent or refractory lowgrade glioma: a Pediatric Brain Tumor Consortium (PBTC) study. Neuro Oncol 2017; 19 (8): 1135–44. DOI: 10.1093/neuonc/now282
16. Bouffet E., Kieran M., Hargrave D., Roberts S., Aerts I., Broniscer A., et al. Trametinib therapy in pediatric patients with low-grade gliomas (LGG) with BRAF gene fusion; a disease-specific cohort in the first pediatric testing of trametinib. Neuro Oncol 2018; 20: 114. DOI: 10.1093/neuonc/noy059.387
17. Lassaletta A., Guerreiro Stucklin A., Ramaswamy V., Zapotocky M., McKeown T., Hawkins C., et al. Profound clinical and radiological response to BRAF inhibition in a 2-month-old diencephalic child with hypothalamic/chiasmatic glioma. Pediatr Blood Cancer 2016; 63 (11): 2038–41. DOI: 10.1002/pbc.26086
18. Del Bufalo F., Ceglie G., Cacchione A., Alessi I., Colafati G.S., Carai A., et al. BRAFV600E inhibitor (vemurafenib) for BRAF V600E mutated low grade gliomas. Front Oncol 2018; 8: 526. DOI: 10.3389/fonc.2018.00526
Pediatric Hematology/Oncology and Immunopathology. 2020; 19: 120-124
A case report of pilocytic astrocytoma of the brainstem
https://doi.org/10.24287/1726-1708-2020-19-4-120-124Abstract
Low-grade gliomas (LGGs) of the brainstem are a rare nosological group among brain tumours in children. In most cases, radical resection of the tumours localized in the brainstem is impossible due to the high risk of postoperative neurological complications. Presently, there are no uniform approaches to the management of patients with residual tumours of the brainstem; furthermore, current LGG treatment protocols disregard molecular and genetic features of the tumour. In our article we describe the case of the patient with LGG of the brainstem after the performed biopsy. Despite the large volume of the tumour, we decided to follow the patient over time due to the following factors: verification of the “pilocytic astrocytoma” histological diagnosis, detection of the KIAA1549-BRAF chimeric transcript (a marker of a favourable prognosis), as well as the absence of neurological deficit. According to the neuroimaging data, the child has stable disease for a long period of time. The patients' parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.
References
1. Robinson K.E. Fraley C.E., Pearson M.M, Kuttesch J.F., Compas B.E. Neurocognitive late effects of pediatric brain tumors of the posterior fossa: a quantitative review. J Int Neuropsychol Soc 2013; 19 (1): 44–53. DOI: 10.1017/S1355617712000987
2. Ostrom Q.T., Gittleman H., Ostrom Q.T., Gittleman H., Liao P., Rouse C., et al. CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2007– 2011. Neuro Oncol 2014; 16: 1–63. DOI: 10.1093/neuonc/nou223
3. Jones D.T.W., Kocialkowski S., Liu L., Pearson D.M., Backlund L.M., Ichimura K., et al. Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. Cancer Res 2008; 68 (21): 8673– 7. DOI: 10.1158/0008-5472.CAN-08-2097
4. Korshunov A., Meyer J., Capper D., Christians A., Remke M., Witt H., et al. Combined molecular analysis of BRAF and IDH1 distinguishes pilocytic astrocytoma from diffuse astrocytoma. Acta Neuropathol 2009; 118 (3): 401–5. DOI: 10.1007/s00401-009-0550-z
5. Dimitriadis E., Alexiou G.A., Tsotsou P., Simeonidi E., Stefanaki K., et al. BRAF alterations in pediatric low-grade gliomas and mixed neuronal–glial tumors. J Neuro Oncol 2013; 113 (3): 353–8. DOI: 10.1007/s11060-013-1131-5
6. Konovalov A.N., Khukhlaeva E.A., Gavryushin A.V. Opukholi stvola golovnogo mozga. Diagnostika. Differentsirovannyi podkhod k lecheniyu. Tom II. M.: Sovremennye tekhnologii i klinicheskie issledovaniya v neirokhirurgii; 2012. S. 123–139.
7. Shibamoto Y., Takahashi M., Dokoh S., Tanabe M., Ishida T., Abe M. Radiation therapy for brain stem tumor with special reference to CT feature and prognosis correlations. Int J Radiat Oncol Biol Phys 1989; 17 (1): 71–6. DOI: 10.1016/0360-3016(89)90372-6
8. Epstein F., McCleary E. Intrinsic brainstem tumors of childhood: surgical indications. J Neurosurg 1986; 64 (1): 11–5. DOI: 10.3171/jns.1986.64.1.0011
9. Se-Yi C., Chien-Hua C., Ming-Hsi S., HsuTung L., Chiung-Chyi S. Stereotactic biopsy for brainstem lesion: Comparison of approachesand reports of 10 cases. J Chin Med Assoc 2010; 74 (3): 110–4. DOI: 10.1016/j.jcma.2011.01.024
10. Holzapfel J., Kandels D., Schmidt R., Pietsch T., Warmuth‐Metz M., Bison B., et al. Favorable prognosis in pediatric brainstem low‐grade glioma – report from the German SIOP‐LGG 2004 cohort. Int J Cancer 2019; 146 (12): 3385–96. DOI: 10.1002/ijc.32734
11. Upadhyaya S.A., Koschmann C., Muraszko K., Venneti S., Garton H.J., Hamstra D.A., et al. Brainstem lowgrade gliomas in children – excellent outcomes with multimodality therapy. J Child Neurol 2017; 32 (2): 194–203. DOI: 10.1177/0883073816675547
12. Lassaletta A., Zapotocky M., Mistry M., Ramaswamy V., Honnorat M., Krishnatry R., et al. Therapeutic and prognostic implications of BRAF V600E in pediatric low-grade gliomas. J Clin Oncol 2017; 35: 2934–41. DOI: 10.1200/jco.2016.34.15
13. Hawkins C., Walker E., Mohamed N., Zhang C., Jacob K., Shirinian M., et al. BRAF-KIAA1549 fusion predicts better clinical outcome in pediatric low-grade astrocytoma. Clin Cancer Res 2011; 17: 4790–8. DOI: 10.1158/1078-0432.CCR-11-0034
14. Horbinski C., Nikiforova M.N., Hagenkord J.M., Hamilton R.L., Pollack I.F. Interplay among BRAF, p16, p53, and MIB1 in pediatric low-grade gliomas. Neuro Oncol 2012; 14: 777–89. DOI: 10.1093/neuonc/nos077
15. Banerjee A., Jakacki R.I., Onar-Thomas A., Wu S., Nicolaides T., Young Poussaint T., et al. A phase I trial of the MEK inhibitor selumetinib (AZD6244) in pediatric patients with recurrent or refractory lowgrade glioma: a Pediatric Brain Tumor Consortium (PBTC) study. Neuro Oncol 2017; 19 (8): 1135–44. DOI: 10.1093/neuonc/now282
16. Bouffet E., Kieran M., Hargrave D., Roberts S., Aerts I., Broniscer A., et al. Trametinib therapy in pediatric patients with low-grade gliomas (LGG) with BRAF gene fusion; a disease-specific cohort in the first pediatric testing of trametinib. Neuro Oncol 2018; 20: 114. DOI: 10.1093/neuonc/noy059.387
17. Lassaletta A., Guerreiro Stucklin A., Ramaswamy V., Zapotocky M., McKeown T., Hawkins C., et al. Profound clinical and radiological response to BRAF inhibition in a 2-month-old diencephalic child with hypothalamic/chiasmatic glioma. Pediatr Blood Cancer 2016; 63 (11): 2038–41. DOI: 10.1002/pbc.26086
18. Del Bufalo F., Ceglie G., Cacchione A., Alessi I., Colafati G.S., Carai A., et al. BRAFV600E inhibitor (vemurafenib) for BRAF V600E mutated low grade gliomas. Front Oncol 2018; 8: 526. DOI: 10.3389/fonc.2018.00526
