Abstract
Medulloblastoma is the second-most common malignant tumor in children. Medulloblastoma has been categorized into four distinct molecular subgroups: WNT, sonic hedgehog (SHH), group 3, and group 4. We report on a male child with medulloblastoma, in whom an enlarged ventricle was diagnosed in utero. Magnetic resonance imaging showed cyst formation in the cerebellar hemisphere initially, with tumor growth being indicated later. Tumor resection was performed when the boy was 12 months old. The histological findings showed extensive nodularity. Further genetic analysis revealed the tumor to be SHH type. This is the first description of a medulloblastoma observed from the fetal stage. Our findings in this case indicate that cyst formation may be the pre-neoplastic lesion of SHH-subtype medulloblastomas.
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Ellison D (2002) Classifying the medulloblastoma: insights from morphology and molecular genetics. Neuropathol Appl Neurobiol 28(4):257–282
Gajjar A, Hernan R, Kocak M, Fuller C, Lee Y, McKinnon PJ et al (2004) Clinical, histopathologic, and molecular markers of prognosis: toward a new disease risk stratification system for medulloblastoma. J Clin Oncol 22(6):984–993
Packer RJ, Gajjar A, Vezina G, Rorke-Adams L, Burger PC, Robertson PL, Bayer L, LaFond D, Donahue BR, Marymont MAH, Muraszko K, Langston J, Sposto R (2006) Phase III study of craniospinal radiation therapy followed by adjuvant chemotherapy for newly diagnosed average-risk medulloblastoma. J Clin Oncol 24:4202–4208
Rutkowski S, Bode U, Deinlein F, Ottensmeier H, Warmuth-Metz M, Soerensen N, Graf N, Emser A, Pietsch T, Wolff JEA, Kortmann RD, Kuehl J (2005) Treatment of early childhood medulloblastoma by postoperative chemotherapy alone. N Engl J Med 352:978–986
Ellison DW, Onilude OE, Lindsey JC, Lusher ME, Weston CL, Taylor RE et al (2005) Beta-Catenin status predicts a favorable outcome in childhood medulloblastoma: the United Kingdom Children’s Cancer Study Group Brain Tumour Committee. J Clin Oncol 23(31):7951–7957
Zeltzer PM, Boyett JM, Finlay JL, Albright AL, Rorke LB, Milstein JM, Allen JC, Stevens KR, Stanley P, Li H, Wisoff JH, Geyer JR, McGuire-Cullen P, Stehbens JA, Shurin SB, Packer RJ (1999) Metastasis stage, adjuvant treatment, and residualtumor are prognostic factors for medulloblastoma in children: conclusions from the Children’s Cancer Group 921 randomized phase III study. J Clin Oncol 17(3):832–845
Northcott PA, Jones DT, Kool M, Robinson GW, Gilbertson RJ, Cho YJ et al (2012) Medulloblastomics: the end of the beginning. Nat Rev Cancer 12:818–834
Northcott PA, Korshunov A, Witt H, Hielscher T, Eberhart CG, Mack S, Bouffet E, Clifford SC, Hawkins CE, French P, Rutka JT, Pfister S, Taylor MD (2011) Medulloblastoma comprises four distinct molecular variants. J Clin Oncol 29:1408–1414
Kool M, Korshunov A, Remke M, Jones DT, Schlanstein M, Northcott PA et al (2012) Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas. Acta Neuropathol 123(4):473–484
Taylor MD, Northcott PA, Korshunov A, Remke M, Cho YJ, Clifford SC, Eberhart CG, Parsons DW, Rutkowski S, Gajjar A, Ellison DW, Lichter P, Gilbertson RJ, Pomeroy SL, Kool M, Pfister SM (2012) Molecular subgroups of medulloblastoma: the current consensus. Acta Neuropathol 123(4):465–472
Juraschka K, Taylor MD (2019) Medulloblastoma in the age of molecular subgroups: a review. J Neurosurg Pediatr 24(4):353–363
Northcott PA, Shih DJ, Remke M, Cho YJ, Kool M, Hawkins C et al (2012) Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples. Acta Neuropathol 123(4):615–626
Evans DG, Farndon PA Nevoid Basal Cell Carcinoma Syndrome. 2002 Jun 20 [updated 2018 Mar 29]. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. (http://www.ncbi.nlm.nih.gov/books/NBK1151/)
Gibson P, Tong Y, Robinson G, Thompson MC, Currle DS, Eden C, Kranenburg TA, Hogg T, Poppleton H, Martin J, Finkelstein D, Pounds S, Weiss A, Patay Z, Scoggins M, Ogg R, Pei Y, Yang ZJ, Brun S, Lee Y, Zindy F, Lindsey JC, Taketo MM, Boop FA, Sanford RA, Gajjar A, Clifford SC, Roussel MF, McKinnon PJ, Gutmann DH, Ellison DW, Wechsler-Reya R, Gilbertson RJ (2010) Subtypes of medulloblastoma have distinct developmental origins. Nature 468(7327):1095–1099
Schüller U, Heine VM, Mao J, Kho AT, Dillon AK, Han YG, Huillard E, Sun T, Ligon AH, Qian Y, Ma Q, Alvarez-Buylla A, McMahon AP, Rowitch DH, Ligon KL (2008) Acquisition of granule neuron precursor identity is a critical determinant of progenitor cell competence to form SHH-induced medulloblastoma. Cancer Cell 14(2):123–134
Gelabert González M, Serramito-García R, Liñares Paz M, Aran-Echabe E, García-Allut A (2014) Congenital medulloblastoma associated with intracranial arachnoid cyst. Neurocirugia (Astur) 5(1):38–42
Yeom KW, Mobley BC, Lober RM, Andre JB, Partap S, Vogel H, Barnes PD (2013) Distinctive MRI features of pediatric medulloblastoma subtypes. Am J Roentgenol 200(4):895–903
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We would like to give a special thanks to Dr Tomoko Shofuda, Ms Ema Yoshioka, and Mr Daisuke Kanematsu for providing the genetic analysis data.
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Li, Y., Nonaka, M., Kanemura, Y. et al. A case of medulloblastoma in a patient with fetal ventricular enlargement. Childs Nerv Syst 37, 977–982 (2021). https://doi.org/10.1007/s00381-020-04725-0
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DOI: https://doi.org/10.1007/s00381-020-04725-0