0109case1 Clivus Mass

8/7/2019 0109case1 Clivus Mass

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C O M J A N U A R Y 2 0 0 9 C A S E 1

5-YEAR-OLD BOY WITH A CLIVAL MASS bpa_299 523..526Benedetta Ludovica Pettorini MD, Federica Novegno MD, Alessandro Cianfoni* MD, Luca Massimi MD,

Pasquale De Bonis MD, Giuseppe Esposito MD, Massimo Caldarelli MD, Gianpiero Tamburrini MD,

Concezio Di Rocco MD, Felice Giangaspero MD, Libero Lauriola MD

Institute of Neurosurgery, Division of Paediatric Neurosurgery, Catholic University of Rome, Italy

* Department of Bio-images and Radiological Sciences, Catholic University Medical School, Rome, Italy

Department of Experimental Medicine and Pathology, University La Sapienza, Rome, and IRCCS NEUROMED, Pozzilli (IS), Italy Institute of Pathology, Catholic University of Rome, Italy

CLINICAL HISTORY

This 5-year-old boy was admitted to our Department after a one

month history of intracranial hypertension followed by the

occurence of neurological deficits. Symptoms started with asthe-

nia, headache, nausea and irritability. Later, right eye ptosis and

deficit of lateral ocular movements appeared.

NEURORADIOLOGICAL FINDINGS

Neuroimaging showed an osteolytic lesion involving the clivus

below the sella turcica plane with a large soft tissue component

expanding into the intracranial compartment. The solid, lobulated

mass was homogenous and enhancing, with a relatively low

T2-signal suggesting high cellularity. A non-enhanced CT

(Figure 1A) showed the large clival osteolysis and a lesion centered

in the clivus (arrow) without bone or chondroid matrix. Magnetic

resonance imaging (MRI) scans showed that the mass displayed a

homogeneous signal, isointense on non-enhanced T1-weighted

images (Figure 1B), and hypointense on T2-weighted images. The

lesion enhanced homogeneously (Figure 1C). MRI scans furtherdemonstrated that the lobulated, solid mass replaced the normal

high-signal intensity of the fatty bone marrow of the clivus

(arrow in Fig 1B) around the spheno-occipital synchondrosis, and

expanded dorsally in the prepontine cistern, compressing the pons

(arrowheads, Figure 1B), and invading the right cavernous sinus

with partial carotid artery encasement.

SURGICAL TREATMENT ANDPOSTOPERATIVE COURSE

An endoscopic transnasal transphenoidal resection of the lesion

was performed. The approach consisted of a bilateral endoscopic

transnasal posterior ethmoidotomy and sphenoidotomy, carried out

to expose the superior third of the clivus. After removal of the right

portion of the clivus, the tumor was reached and portions removed

until the basilar artery trunk and ventral brainstem were visualized.

The lesion was mainly composed of soft, elastic and fairly vascular

tissues, except for some portions that were hard and poorly vascu-

larized (similar to cartilagineous tissue). Only a partial resection

was achieved due to the narrow operating field and the risk ofdamage to the basilar artery. The postoperative course wasunevent-

ful. The preoperative symptoms quickly disappeared and the pre-

operative deficits progressively improved. No cerebrospinal fluid

leak was noted. A careful metastatic workup did not reveal evi-

dence of primary extracranial neoplasms.

MICROSCOPIC PATHOLOGY

Histopathological examination revealed neoplastic spindled and

rhabdoid cells with abundant eosinophilic cytoplasm, rounded

nuclei and prominent nucleoli as well as numerous mitoses

(Figures 2A, 2B and Figure 3). The tumor cells formed nodular

aggregates separated by a fibro-inflammatory stroma. Several areasof geographic necrosis were present (Figure 2A). By immuno-

histochemistry, neoplastic cells immunostained for vimentin

(Figure 4A), cytokeratin 8/18, cytokeratin AE1/AE3 (Figure 4B),

and epithelial membrane antigen (EMA) (Figure 4C). No immun-

ostaining was observed for glial fibrillary associated protein

(GFAP), S-100, placental alkaline phosphatase, a-fetoprotein,

CD-117, CD-34, and CD-31. Immunohistochemistry with the

BAF-47 antibody (INI1 inactivation) failed to stain neoplastic

nuclei, while inflammatory and fibroblastic cell nuclei were

appropriately immunostained (Figure 4D). Proliferative fraction

assessed by the Ki67 antibody exceeded 40% (Figure 4E).

doi:10.1111/j.1750-3639.2009.00299.x

523Brain Pathology 19 (2009) 523526

2009 The Authors; Journal Compilation 2009 International Society of Neuropathology


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524 Brain Pathology 19 (2009) 523526



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DIAGNOSIS

Epithelioid sarcoma.

DISCUSSION

First described in 1970 (2), epithelioid sarcoma accounts for less

than 1% of soft tissue sarcomas (11). It arises from multipotential

mesenchymal cells able to express both epithelial and mesenchy-

mal immunophenotype (7), and typically shows a slow-growing

pattern. Epithelioid sarcoma occurs more frequently in the upper

limbs, usually involving the extremities (hand and wrist) of young

to middle-aged male adults (4, 5, 7, 11). This classic form of

epithelioid sarcoma is composed by cells varying from spindle to

round and epithelioid, with necrotic areas. A recently reported

proximal-type variant is characterized by higher aggressiveness

and preferential location in proximal-axial and deep regions (1, 4).

In a recent study, frequent deletions of INI1 gene have been

detected in the proximal-type variant, by both real-time quantita-

tive PCR analysis and immunohistochemistry (9). In the present

case, AT/RT was ruled out because of the extracerebral and extra-

dural location. Furthermore, epithelioid sarcoma was consideredmore likely than extra-renal rhabdoid tumor on the basis of the

cellular morphology and the presence of extensive geographic

necrosis (5).

Despite their slow growth, epithelioid sarcomas tend to spread

locally, infiltrating regional lymph nodes and can present as

multinodular and/or metastatic disease (5). The reported recur-

rence rate is as high as 70%. Treatment is primarily by wide local

excision, followed by adjuvant radiotherapy; however, even in

cases of primary amputation of an affected limb, no survival advan-

tage has been observed (11).

To our knowledge, this is the first report of an epithelioid

sarcoma involving the clivus in a pediatric patient. A tumor in this

location gives rise to a large differential diagnosis that is different

than that for adults (12). In this case, neuroradiological findingssuggested clival chordoma, craniopharyngioma or rhabdomyosar-

coma as the most likely diagnosis. Chondrosarcoma, lymphoma,

aggressive meningioma, plasmocytoma, and metastasis were con-

sidered much less likely in this age group (3).

The neuroimaging characteristics of the lesion, however, did not

allow a clearpresumptive diagnosis.Actually, whilethe location and

theage well suitedthe first hypothesis of a chordoma,the neuroradi-

ology did not reveal other findings commonly encountered in such

tumors(8, 10).Althoughtypical of thepediatric age,the craniophar-

yngioma was radiologically excluded on the basis of the clival

involvement, the lack of the classic signal heterogeneity, and the

absence of cystic components (3). On the other hand, a rhabdomyo-

sarcoma was hard to rule out, sinceit usuallyshows a low T2-signaland a local aggressiveness,like the presentcase.

Hitological evaluation showed that the the tumor and immuno-

histochemistry were in favor of epithelioid sarcoma (6). This report

adds epithelioid sarcoma to the differential diagnosis of both clival

tumors and pediatric skull base tumors.

REFERENCES

1. Chase DR, Enzinger FM (1985) Epithelioid sarcoma: diagnosis,

prognostic indicators, and treatment. Am J Surg Pathol9:241261.

2. Enzinger FM (1970) Epithelioid sarcoma: a sarcoma simulating a

granuloma or a carcinoma. Cancer 26:10291041.

3. Erdem E, Angtuaco EC, Van Hemert R, Park JS, Al-Mefty O (2003)

Comprehensive review of intracranial chordoma. Radiographics

23:9951009.

4. Guillou L, Wadden C, Coindre JM, Krausz T, Fletcher CD (1997)

Proximal-type epithelioid sarcoma, a distinctive aggressive

neoplasm showing rhabdoid features. Clinicopathologic,

immunohistochemical, and ultrastructural study of a series. Am J SurgPathol21:13046.

5. Halling AC, Wollan PC, Pritchard DJ, Vlasak R, Nascimento AG

(1996) Epithelioid sarcoma: a clinicopathologic review of 55 cases.

Mayo Clin Proc7:63642.

6. Hoot AC, Russo P, Judkins AR, Perlman EJ, Biegel JA (2004)

Immunohistochemical analysis of hSNF5/INI1 distinguishes renal

and extra-renal malignant rhabdoid tumors from other pediatric soft

tissues tumors. Am J Surg Pathol28:14851491.

7. Kurtkaya-Yapcer O, Scheithauer BW, Dedrick DJ, Wascher TM

(2002) Primary epithelioid sarcoma of the dura: case report.

Neurosurgery 50:198202.

8. Meyers SP, Hirsch WL Jr, Curtin HD, Barnes R, Sekhar LN, Sen C

(1992) Chordomas of the skull base: MR features. Am J Neuroradiol

13:16271636.

9. Modena P, Lualdi E, Facchinetti F, Galli L, Teixeira MR, Pilotti S,Sozzi G (2005) SMARCB1/INI1 tumor suppressor gene is frequently

inactivated in epithelioid sarcomas. Cancer Res 65:40124019

10. Pamir MN, Ozduman K (2006) Analysis of radiological features

relative to histopathology in 42 skull-base chordomas and

chondrosarcomas. Eur J Radiol58:461470.

11. Spillane AJ, Thomas JM, Fisher C (2000) Epithelioid sarcoma: the

clinicopathological complexities of this rare soft tissue sarcoma. Ann

Surg Oncol7:218225.

12. Tsai EC, Santoreneos S, Rutka JT (2002) Tumors of the skull base in

children: review of tumor types and management strategies.

Neurosurg Focus 15; 12(5):e1.

ABSTRACTEpithelioid sarcoma is a rare tumor originating from mesenchymal

cells, usually involving the extremities of young adults and is found

only sporadically in the head and neck region. Only one case

involving the central nervous system has been described so far. We

report a 5 year-old boy with a large solid, osteolytic lesion of the

clivus with a wide soft tissue component expanding into the intrac-

ranial compartment and obliterating the prepontine cistern. Histo-

pathological examination revealed epithelioid neoplastic cells with

abundant eosinophilic cytoplasm, rounded nuclei and prominent

nucleoli. Areas of geographic necrosis and numerous mitoses were

present. Neoplastic cells immunostained for vimentin, cytokeratin,

and epithelial membrane antigen (EMA). No immunostaining was

observed for glial fibrillary associated protein (GFAP), S-100,PLAP, a-fetoprotein, CD 117, CD 34, CD 31, BAF-47 (INI1). The

Ki67 proliferation index exceeded 40%. These histological find-

ings favor a diagnosis of epithelioid sarcoma. This report adds

epithelioid sarcoma to the differential diagnosis of both clival

tumors and pediatric skull base tumors.

Correspondence

526 Brain Pathology 19 (2009) 523526


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0109case1 Clivus Mass