Top

Child's Nervous System

Published in:

01-05-2010 | Case Report

Germinoma in the basal ganglia with an abnormal karyotype: case report and review of the literature

Authors: En Xu, Xiaojuan Wang, Zhuofang Hao, Zheng Chen, Xuefen Lu

Published in: Child's Nervous System | Issue 5/2010

Abstract

Introduction

Germ cell tumor of basal ganglia with abnormal constitutional karyotype has been rarely reported.

Case report

A 9-year-old boy presented with precocious puberty and right hemiparesis. Magnetic resonance imaging showed high intensity on T1-weighted, T2-weighted, and contrast-enhanced T1-weighted images in the left basal ganglia and ipsilateral cerebral hemiatrophy predominantly in the basal ganglia and midbrain. Germinoma in the left basal ganglia was confirmed by stereotactic biopsy and immunochemical examination. His constitutional karyotype was 46, XY, t (8; 19), (p23.1; p13.1), a novel chromosomal abnormality.

Discussion

Intracranial germinoma, a potentially curable tumor, should be considered in children with nonspecific neurological symptoms, endocrinologic changes, and ipsilateral cerebral hemiatrophy on computed tomography or magnetic resonance. Investigation of chromosomal aberrations in those patients would clarify the tumorigenesis and lead to possibilities for novel disease-specific therapies.

Tamaki N, Lin T, Shirataki K, Hosoda K, Kurata H, Matsumoto S, Kurata H (1990) Germ cell tumors of the thalamus and the basal ganglia. Childs Nerv Syst 6:3–7CrossRefPubMed

Horowitz MB, Hall WA (1991) Central nervous system germinomas. Arch Neurol 48:652–657PubMed

Okamoto K, Ito J, Ishikawa K, Morii K, Yamada M, Takahashi N, Tokiguchi S, Furusawa T, Sakai K (2002) Atrophy of the basal ganglia as the initial diagnostic sign of germinoma in the basal ganglia. Neuroradiology 44:389–394CrossRefPubMed

Rossi A, Garrè ML, Ravegnani M, Nozza P, Abbruzzese A, Giangaspero F, Tortori-Donati P (2008) Bilateral germinoma of the basal ganglia. Pediatr Blood Cancer 50:177–179CrossRefPubMed

Takeda N, Fujita K, Katayama S, Uchihashi Y, Okamura Y, Nigami H, Hashimoto K, Kohmura E (2004) Germinoma of the basal ganglia. An 8-year asymptomatic history after detection of abnormality on CT. Pediatr Neurosurg 40:306–311CrossRefPubMed

Kim DI, Yoon PH, Ryu YH, Jeon P, Hwang GJ (1998) MRI of germinomas arising from the basal ganglia and thalamus. Neuroradiology 40:507–511CrossRefPubMed

Kim CH, Paek SH, Park IA, Chi JG, Kim DG (2002) Cerebral germinoma with hemiatrophy of the brain: report of three cases. Acta Neurochir (Wien) 44:145–150CrossRef

Oyama N, Terae S, Saitoh S, Sudoh A, Sawamura Y, Miyasaka K (2005) Bilateral germinoma involving the basal ganglia and cerebral white matter. Am J Neuroradiol 26:1166–1169PubMed

Ozelame RV, Shroff M, Wood B, Bouffet E, Bartels U, Drake JM, Hawkins C, Blaser S (2006) Basal ganglia germinoma in children with associated ipsilateral cerebral and brain stem hemiatrophy. Pediatr Radiol 36:325–330CrossRefPubMed

10.

Maehara T, Machida T, Tsuchiya K, Iio M (1983) Brain tumors with ipsilateral cerebral hemiatrophy. Am J Neuroradiol 4:478–480PubMed

11.

Tanabe M, Mizushima M, Anno Y, Kondou S, Dejima S, Hirao DJ, Kamitani H, Watanabe T, Hori T (1997) Intracranial germinoma with Down's syndrome: a case report and review of the literature. Surg Neurol 47:28–31CrossRefPubMed

12.

Nakashima T, Nishimura Y, Sakai N, Yamada H, Hara A (1997) Germinoma in cerebral hemisphere associated with Down syndrome. Childs Nerv Syst 13:563–566CrossRefPubMed

13.

Matsumura N, Kurimoto M, Endo S, Fukuda O, Takaku A (1998) Intracranial germinoma associated with Down's syndrome. Pediatr Neurosurg 29:199–202CrossRefPubMed

14.

Fujita T, Yamada K, Saitoh H, Itoh S, Nakai O (1992) Intracranial germinoma and Down's syndrome—case report. Neurol Med Chir (Tokyo) 32:163–165CrossRef

15.

Nakata Y, Yagishita A, Arai N (2006) Two patients with intraspinal germinoma associated with Klinefelter syndrome: case report and review of the literature. AJNR Am J Neuroradiol 27:1204–1210PubMed

16.

Sato A, Kajita A, Sugita K, Izumi T, Fukuyama Y, Funata N, Okeda R (1986) Cornelia de Lange syndrome with intracranial germinoma. Acta Pathol Jpn 36:143–149PubMed

17.

Rickert CH, Simon R, Bergmann M, Dockhorn-Dworniczak B, Paulus W (2000) Comparative genomic hybridization in pineal germ cell tumors. J Neuropathol Exp Neurol 59:815–821PubMed

18.

Oosterhuis JW, Looijenga LH (2005) Testicular germ-cell tumours in a broader perspective. Nat Rev Cancer 5:210–222CrossRefPubMed

19.

Jenderny J, Köster E, Meyer A, Borchers O, Grote W, Harms D, Jänig U (1995) Detection of chromosome aberrations in paraffin sections of seven gonadal yolk sac tumors of childhood. Hum Genet 96:644–650CrossRefPubMed

20.

Schneider DT, Zahn S, Sievers S, Alemazkour K, Reifenberger G, Wiestler OD, Calaminus G, Göbel U, Perlman EJ (2006) Molecular genetic analysis of central nervous system germ cell tumors with comparative genomic hybridization. Mod Pathol 19:864–873PubMed

21.

Rahbar R, Vargas SO, Miyamoto CR, Perez-Atayde AR, French CA, Robson CD, Licameli GR, Fletcher JA, Marcus KC, Grier HE, Mcgill TJ, Healy GB (2003) The role of chromosomal translocation (15;19) in the carcinoma of the upper aerodigestive tract in children. Otolaryngol Head Neck Surg 129:698–704CrossRefPubMed

22.

Harach HR, Lesueur F, Amati P, Brown A, Canzian F, Kraimps JL, Levillain P, Menet E, Romeo G, Bonneau D (1999) Histology of familial thyroid tumors linked to a gene mapping to chromosome 19p13.2. J Pathol 189:387–393CrossRefPubMed

23.

Kitramura Y, Shimizu K, Tanaka S, Ito K, Emi M (2000) Allelolotyping of anaplastic thyroid carcinoma: frequent allelic losses on lq, 9p, 11, 17, 19p, and 22q. Genes Chromosomes Cancer 27:244–251CrossRef

24.

Looijenga LH, Rosenberg C, van Gurp RJ, Geelen E, van Echten-Arends J, de Jong B, Moster M, Wolter Oosterhuis J (2000) Comparative genomic hybridization of microdissected samples from different stages in the development of seminoma and non-seminoma. J Pathol 191:187–192CrossRefPubMed

25.

Kytola S, Famebo F, Obara T, Isola J, Grimelius L, Farnebo L, Sandelin K, Larsson C (2000) Patterns of chromosomal imbalances in parathyroid carcinomas. Am J Pathol 157(2): 579–586PubMed

26.

Prempree T, Amommam R, Faillace WJ, Arce CA, Nguyen TQ (1993) 1:19 transaction in human meningioma. Cancer 71:2306–2311CrossRefPubMed

27.

Martinez-Climent JA, Vizcarra E, Sanchez D, Blesa D, Marugan I, Benet I et al (2001) Loss of a novel tumor suppressor gene locus at chromosome 8p is associated with leukemic mantle cell lymphoma. Blood 98:3479–3482CrossRefPubMed

28.

El-Naggar AK, Lovell M, Killary AM, Clayman GL, Batsakis JG (1996) A mucoepidermoid carcinoma of minor salivary gland with t(11;19)(q21;p13.1) as the only karyotypic abnormality. Cancer Genet Cytogenet 87:29–33CrossRefPubMed

29.

Lu T, Hano H, Meng C, Nagatsuma K, Chiba S, Ikegami M (2007) Frequent loss of heterozygosity in two distinct regions, 8p23.1 and 8p22, in hepatocellular carcinoma. World J Gastroenterol 13:1090–1097PubMed

30.

Hall WA (1998) The safety and efficacy of stereotactic biopsy for intracranial lesions. Cancer 82:1749–1755CrossRefPubMed

31.

McGirt MJ, Woodworth GF, Coon AL, Frazier JM, Amundson E, Garonzik I, Olivi A, Weingart JD (2005) Independent predictors of morbidity after image-guided stereotactic brain biopsy: a risk assessment of 270 cases. J Neurosurg 102:897–901CrossRefPubMed

32.

Kim JE, Kim CY, Kim DG, Jung HW (2003) Implantation metastasis along the stereotactic biopsy tract in anaplastic astrocytoma: a case report. J Neurooncol 61:215–218CrossRefPubMed

33.

Vaquero J, Martnez R, Manrique M (2000) Stereotactic biopsy for brain tumors: is it always necessary? Surg Neurol 53:432–438CrossRefPubMed

34.

Sonoda Y, Kumabe T, Sugiyama S, Kanamori M, Yamashita Y, Saito R, Ariga H, Takai Y, Tominaga T (2008) Germ cell tumors in the basal ganglia: problems of early diagnosis and treatment. J Neurosurg Pediatrics 2:118–124CrossRef

35.

Tohma Y, Kaneko T, Kita D, Iwato M, Hayashi Y, Tachibana O, Hasegawa M, Yamashita J (2000) De novo spinal teratoma after treatment of an intracranial germ cell tumor. Pediatr Neurosurg 33:261–264CrossRefPubMed

36.

Tian C, Pu C, Wu W, Huang X, Lang S, Yu S, Zhang J, Huang D, Cui S (2009) Is biopsy needed to guide management for all patients with presumed intracranial ectopic germinomas. J Neurooncol 92:37–44CrossRefPubMed

37.

Jubran RF, Finlay J (2005) Central nervous system germ cell tumors: controversies in diagnosis and treatment. Oncology (Williston Park) 19:705–711, 715–717, 721

38.

Ogino H, Shibamoto Y, Takanaka T, Suzuki K, Ishihara S, Yamada T, Sugie C, Nomoto Y, Mimura M (2005) CNS germinoma with elevated serum human chronic gonadotropin level: clinical characteristics and treatment outcome. Int J Radiat Oncol Biol Phys 62:803–808PubMed

39.

Lee H, Saran F, Hargrave D, Bódi I, Bassi S, Hortobágyi T (2006) Germinoma with synchronous lesions in the pineal and suprasellar regions. Childs Nerv Syst 22:1513–1518CrossRefPubMed

Title: Germinoma in the basal ganglia with an abnormal karyotype: case report and review of the literature
Authors: En Xu
Xiaojuan Wang
Zhuofang Hao
Zheng Chen
Xuefen Lu
Publication date: 01-05-2010
Publisher: Springer-Verlag
Published in: Child's Nervous System / Issue 5/2010
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-009-1007-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Germinoma in the basal ganglia with an abnormal karyotype: case report and review of the literature

Abstract

Introduction

Case report

Discussion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Case report

Discussion

Please log in to get access to this content

Other articles of this Issue 5/2010

Treatment of cystic craniopharyngioma with phosphorus-32 intracavitary irradiation

Foreign body reactions causing spinal cord tethering: a case-based update

Intraoperative neurophysiology of the motor system in children

Expression of neuronal antigens and related ventral and dorsal proteins in the normal spinal cord and a surgically induced open neural tube defect of the spine in chick embryos: an immunohistochemical study

Use of intrathecal urokinase in repeated shunt and external ventricular drain blockage from high CSF protein due to an optic pathway glioma

Spinal dermal sinus tract