Pilomyxoid astrocytoma in the adult cerebellum

Journal of Clinical Neuroscience xxx (2016) xxx–xxx

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Case report

Pilomyxoid astrocytoma in the adult cerebellum Annie S. Chen a, Iddo Paldor a, Alpha E. Tsui b, Tanya I. Yuen a,c,⇑ a

Department of Neurosurgery, Royal Melbourne Hospital, 300 Grattan Street, Parkville, VIC 3050, Australia Department of Anatomical Pathology, Royal Melbourne Hospital, VIC, Australia c Department of Surgery, Royal Melbourne Hospital, University of Melbourne, VIC, Australia b

a r t i c l e

i n f o

Article history: Received 8 November 2015 Accepted 21 November 2015 Available online xxxx Keywords: Adult Cerebellum Pilocytic astrocytoma Pilomyxoid astrocytoma

a b s t r a c t Pilomyxoid astrocytoma (PMA) is a recently recognised World Health Organization (WHO) Grade II tumour that was previously characterised as a subtype of the WHO Grade I pilocytic astrocytoma (PA). PMA has a histological appearance distinct from PA and a poorer prognosis due to its greater propensity for local recurrence and cerebrospinal dissemination. Although originally considered a paediatric tumour involving mainly the hypothalamic and chiasmatic region, reports of the lesion occurring in the adult population and other areas of the neuroaxis are emerging. We review the literature on PMA within the adult population and present the first case of PMA in the cerebellum of an adult female. Crown Copyright Ó 2015 Published by Elsevier Ltd. All rights reserved.

1. Introduction The recently described pilomyxoid astrocytoma (PMA) is primarily a paediatric tumour with a predilection for the hypothalamic and chiasmatic region [1]. We present a case of PMA located in the cerebellum of an adult female and a review of the literature on PMA in adults. 2. Case report A 20-year-old woman presented with 2 months of headache, nausea, vomiting and papilloedema characteristic of raised intracranial pressure. She was otherwise neurologically intact. MRI (Fig. 1) demonstrated a large well-circumscribed intraaxial solid and cystic tumour within the left cerebellar hemisphere and vermis and extending down to the cervicomedullary junction. The remaining neuroaxis was normal. A posterior fossa craniotomy was performed with macroscopic resection of the tumour (Fig. 2). Paraffin sections revealed a moderately hypercellular tumour on a myxomatous background, comprising a mixture of plump piloid cells with moderate nuclear pleomorphism. There were no Rosenthal fibres, no mitoses, no microvascular proliferation nor was there any necrosis. Immunohistochemistry was positive for glial fibrillary acidic protein, Nestin, ATRX (not mutated), MGMT (likely unmethylated), and negative for isocitrate dehydrogenase-1 and p16. The topoisomerase index was 2% (Fig. 3). ⇑ Corresponding author. Tel.: +61 3 9342 8219; fax: +61 3 9342 7273. E-mail address: [email protected] (T.I. Yuen).

There was no adjuvant therapy and the patient was tumour free and well 5 months postoperatively. 3. Discussion PMA was for a long time considered an infantile subtype of the World Health Organization (WHO) Grade I tumour, pilocytic astrocytoma (PA). Whilst the term ‘‘pilomyxoid astrocytoma” was first coined in 1999 by Tihan et al. [2], it was not until 2007 that the tumour was recognised as a WHO grade II tumour that was distinct from PA [1]. Both are abundant in piloid cells but PA is biphasic in appearance whilst PMA is monophasic with a rich myxoid background. PMA does not usually demonstrate the Rosenthal fibres and eosinophilic granular bodies that are characteristic of PA. Komotar et al. compared 21 PMA cases against 42 PA cases and found higher recurrence in the former (76% PMA versus 50% PA, p value not specified) [3]. When matched for age, there was also significantly reduced mean progression-free time (25 months PMA versus 163 months PA, p < 0.01) and mean survival time (60 months PMA versus 23 months PA, p < 0.001). Cerebrospinal dissemination was found in three PMA patients but not seen in any of the PA patients. Higher recurrence rates of both PA and PMA have been found with nestin positivity of greater than 50% (p = 0.047) but not with tumour location or degree of resection [4]. PMA is reported to have an average age at presentation ranging from 10–18 months [1,3]. To our knowledge, there are only 21 adult patients reported in the English language literature (Table 1) [4–22]. A report of two adult cases did not specify age [11]. Of the

http://dx.doi.org/10.1016/j.jocn.2015.11.008 0967-5868/Crown Copyright Ó 2015 Published by Elsevier Ltd. All rights reserved.

Please cite this article in press as: Chen AS et al. Pilomyxoid astrocytoma in the adult cerebellum. J Clin Neurosci (2016), http://dx.doi.org/10.1016/j. jocn.2015.11.008

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Case Report / Journal of Clinical Neuroscience xxx (2016) xxx–xxx

Fig. 1. (A) Axial, (B) coronal and (C) sagittal gadolinium-enhanced T1-weighted MRI demonstrating a large intra-axial solid and cystic tumour in the left cerebellar hemisphere and vermis with extension down into the cervicomedullary junction. Histopathology showed pilomyxoid astrocytoma.

Table 1 Cases of pilomyxoid astrocytoma in the adult population reported in the literature Authors, year

Age, years

Sex

Clinical presentation

Tumour location

Treatment

Prognosis

Fuller et al., 2001 [5] Gottfried et al., 2003 [6] Komotar et al., 2006 [7]

22 24

F M

ND Confusion, vomiting, headache, gait disturbance

Suprasellar region Posterior temporal lobe

ND GTR

28

M

Intractable seizures

Amygdala/Uncus

GTR

Chen et al., 2006 [8] Enting et al., 2006 [10]

19 33

F M

29

F

ND Ventricular horn, cervical metastases Thecal sac mid-cervical spine

ND RTx, CTx

Mendiratta-Lala et al., 2007 [14] Omura et al., 2008 [15]

25

M

ND Headache, nausea, diplopia, confusion, memory loss Neck pain, bilateral upper limb sensory disturbance and weakness Tinnitus, hyperacusis

ND No recurrence at 6 months No recurrence at 30 months ND Progressive leptomeningeal seeding ND

Fourth ventricle

STR

Sajadi et al., 2008 [16]

45

F

Progressive cervical myelopathy

Cervical spine

Linscott et al., 2008 [13] Linscott, et al., 2008 [13] Shibahara et al., 2009 [20] Toyoda et al., 2009 [18]

21

M

Headache

HC region

Biopsy, RTx ND

No regrowth after 21 months Death 1 month after diagnosis ND

46

M

Headache, vomiting

HC region

ND

ND

18

M

Altered conscious state

HC region

Biopsy

ND

77

M

Visual disturbance

Biopsy

ND

Kim et al., 2010 [12] Nagaishi et al., 2011 [4]

18 36

F M

Progressive visual disturbance Headache

Hypothalamus/basal cistern/ Sylvian fissure HC region Pineal gland

Partial response to CTx Recurrence at 6 months

Horger et al., 2012 [11] Horger et al., 2012 [11] Bhargava et al., 2013 [22] Wu et al., 2013 [19]

ND ND 42

ND ND ND

ND ND ND

ND ND HC region

CTx Biopsy, RTx ND ND Bx

40

F

Thoracolumbar spine

STR, RTx

Skovrlj et al., 2014 [17]

72

M

Lower limb sensory disturbance, thoracic sensory level Memory loss, gait disturbance, speech difficulty

Cerebellar vermis

STR

Amita et al., 2014 [9] Chaudhuri et al., 2014 [21]

62 35

M M

Memory and behavioral change Paraparesis

Thalamus Thoracic spine

GTR GTR, RTx

STR, RTx

ND ND Clinically stable for 6 years No recurrence at 3 years Death 4 months after diagnosis ND ND

CTx = chemotherapy, F = female, GTR = gross total resection, HC = hypothalamic/chiasmatic, M = male, ND = no data, RTx = radiotherapy, STR = subtotal resection.

remaining 19 patients, most (six patients, 32%) were in the third decade of life [5–7,13–15] with more even distribution across other age groups. Three patients (16%) were aged under 20 years [8,12,20], four (21%) were in the fifth decade of life [13,16,19,22] and three (16%) were in the fourth decade of life [4,10,21]. Three cases (16%) of patients older than 60 years have also been published [9,17,18].

In a paediatric series, there was a 57% incidence of PMA in the hypothalamic/chiasmatic (HC) region with less common locations being the cerebrum, basal ganglia/thalamus, cerebellum and fourth ventricle [13]. Of the adult cases, six have been reported in the HC region [12,13,18,20,22] and four in the spine [14,16,19,21]. It would appear that PMA has a predilection for the HC region in children, which is less evident in adults.

Please cite this article in press as: Chen AS et al. Pilomyxoid astrocytoma in the adult cerebellum. J Clin Neurosci (2016), http://dx.doi.org/10.1016/j. jocn.2015.11.008

Case Report / Journal of Clinical Neuroscience xxx (2016) xxx–xxx

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Fig. 2. (A) Axial, (B) coronal and (C) sagittal gadolinium-enhanced T1-weighted MRI demonstrating gross total resection of the pilomyxoid astrocytoma.

Fig. 3. Pilomyxoid astrocytoma. (A, B) Haematoxylin and eosin staining showing bipolar tumour cells in a diffusely myxoid background (original magnification  200 in A; original magnification  100 in B). (C) The topoisomerase index is about 2% (topoisomerase immunostain, original magnification  100).

PMA in the cerebellum is uncommon. There have been 12 reported patients and only one of these was in an adult [4,13,17,23–29]. This was a 72-year-old man who underwent subtotal resection and died 4 months postoperatively [17]. To our knowledge our case is the first report of cerebellar PMA in an adult female. The location of the tumour in this patient afforded gross total resection. The influence of surgical resectability on tumour prognosis is yet to be fully determined. Further reporting of this uncommon tumour particularly within the adult population will assist in formulating best treatment paradigms. Conflicts of Interest/Disclosures The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication. References [1] Louis D, Ohgaki H, Wiestler O, et al. The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol 2007;114:97–109. [2] Tihan T, Fisher PG, Kepner JL, et al. Pediatric astrocytomas with monomorphous pilomyxoid features and a less favourable outcome. J Neuropathol Exp Neurol 1999;58:1061–8. [3] Komotar RJ, Burger PC, Carson BS, et al. Pilocytic and Pilomyxoid hypothalamic/chiasmatic astrocytomas. Neurosurgery 2004;54:72–9 [discussion 79–80]. [4] Nagaishi M, Yokoo H, Hirato J, et al. Clinico-pathological feature of pilomyxoid astrocytomas: three case reports. Neuropathology 2011;31:152–7. [5] Fuller CE, Frankel B, Smith M, et al. Suprasellar monomorphous pilomyxoid neoplasm: an ultrastructural analysis. Clin Neuropathol 2001;20:256–62.

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Case Report / Journal of Clinical Neuroscience xxx (2016) xxx–xxx

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Please cite this article in press as: Chen AS et al. Pilomyxoid astrocytoma in the adult cerebellum. J Clin Neurosci (2016), http://dx.doi.org/10.1016/j. jocn.2015.11.008