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Primary mesenchymal chondrosarcoma of the orbit in a young female: imaging and histopathological features

Primary mesenchymal chondrosarcoma of the orbit in a young female: imaging and histopathological... Mesenchymal chondrosarcoma (MCS) is a rare high-grade sarcoma of bone and soft tissue with highly aggressive behavior and a peak incidence in the second and third decades. We report a case of primary orbital MCS in a 30 year-old female, with radiological and clinicopathological features. Orbital MCS is an entity that should be considered in the differential diagnosis of calcified orbital lesions. INTRODUCTION visual acuity. No abnormality of the left eye was detected. Computed tomography (CT) and magnetic resonance imaging Mesenchymal chondrosarcoma (MCS) is a rare high-grade sar- (MRI) scans revealed a well-defined right intrasonic mass, in coma of bone and soft tissue firstly described by Lightenstein the upper-external quadrant with optical nerve displacement and Bernstein in 1959 [1]. without involvement of it. The endorbital mass was adherent MCS has a highly aggressive behavior and accounts for to the superior rectus muscle with a cleavage plane. CT approximately 3% of all chondrosarcoma, with a peak incidence scans demonstrated an ovoidal soft tissue mass with central in the second and third decades [2]. calcification. T1 and T2 weighted images showed an oval tumor MCS is composed of undifferentiated neoplastic cells with iso-hyperintense signal with a calcified central component. associated with areas of mature cartilage and usually a Enhanced T2 weighted images demonstrated an omogenous hemangiopericytoma-like pattern of vascularization. Up to one- tumoral enhancement except for the central calcified part third of cases of MSC arise primarily in the soft tissue, with (Fig. 1). These findings have led to a radiological-suggested dif- approximately 30 cases of orbital MSC described in the literature. ferential diagnosis between vascular malformation, cavernous Here, we report a case with primary orbital MCS in a 30 year-old hemangioma and solitary fibrous tumor. patient, an entity that should be considered in the differential An excisional biopsy of the orbital mass was performed. We diagnosis of calcified orbital lesions. found a firm, whitish nodule that measured 2.8 × 1.9 × 1.7 cm. Microscopically, the neoplasm had a typical biphasic pattern, with a hypercellular small round cell component intermixed CASE REPORT with islands of well-differentiated cartilage showing meta- A 30-year-old Caucasian female without any past medical illness plastic bone ossification. There was an abrupt transition presented with an endorbital mass of the right eye, without between the two different components of the neoplasm, proptosis. Physical examination revealed a decreased right and a hemangiopericytoma-like vascular pattern was noted Received: January 27, 2020. Accepted: February 11, 2020 Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2020. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com 1 Downloaded from https://academic.oup.com/jscr/article-abstract/2020/3/rjaa037/5813324 by DeepDyve user on 30 March 2020 2 L. D’Alì et al. Figure 1: (A–D) Imaging features of MCS: CT scans demonstrated an ovoidal soft tissue mass with central calcification (A), T2 (B) and T1 (C) weighted images showing an oval tumor with iso-hyperintense signal with a calcified central component. Enhanced T1 weighted image demonstrating an omogenous tumoral enhancement except for the central calcified part (D). Figure 3: Abrupt transition from small cell component to well differentiated cartilaginous area (H&E, high power view). Figure 2: Low-power view of the lesion showing central ossification (H&E). DISCUSSION (Figs 2–4). Immunohistochemically, the mesenchymal small Clinically, the patient did not present with proptosis, a very cell component showed focal cytoplasmic positivity for CD99, common finding in orbital chondrosarcoma patients [3]. Similar while the cartilaginous component was S100 protein-positive to previous reports [4–6], we observed ossification of the orbital (Figs 5 and 6). The neoplastic cells showed negativity for mass, a characteristic TC finding of orbital chondrosarcoma cytokeratin AE1/AE3, STAT6 (signal transducer and activator of [4, 5]. transcription-6), CD31 and CD34. The findings were consistent We also observed optic nerve displacement that is a com- with MCS. This case was sent for a second opinion to Prof. Angelo mon finding in intraorbital MCS. Optic nerve tissue involvement, Paolo Dei Tos (Department of Pathology, Azienda ULSS 2 Marca which has rarely been reported in huge tumors associated with Trevigiana, Treviso, Italy) who confirmed the diagnosis of MCS, intracranial extension [7], was not seen. also reporting nuclear positivity for SOX9, a master regulator of In our case, nuclear positivity for Sox9 was reported. This the differentiation of mesenchymal cells into chondrocytes. immunohistochemical finding could be useful to distinguish Downloaded from https://academic.oup.com/jscr/article-abstract/2020/3/rjaa037/5813324 by DeepDyve user on 30 March 2020 Primary mesenchymal chondrosarcoma of the orbit in a young female 3 should be considered in calcified lesions affecting children and young adults. CONFLICT OF INTEREST STATEMENT The authors declare that there is no conflict of interest regarding the publication of this paper. REFERENCES 1. Lightenstein L, Bernstein D. Unusual benign and malignant chondroid tumors of bone. A survey of some mesenchy- Figure 4: Typical hemangiopericytoma-like vascular pattern (H&E, high power mal cartilage tumors and malignant chondroblastic tumors, view). including a few multicentric ones, as well as many atypi- cal benign chondroblastomas and chondromyxoid fibromas. Cancer 1959;12:1142–57. 2. Tos D, Paolo A. Soft Tissue Sarcoma: A Pattern Approach to Diagnosis. Cambridge University Press, 2019, 336–40 ISBN 3. Alkatan HM, Eberhart CG, Alshomar KM, Elkhamary SM, Maktabi AMY. Primary mesenchymal chondrosarcoma of the orbit: histopathological report of 3 pediatric cases. Saudi J Ophthalmol 2018;32:69–74. 4. Tsuchiya M, Masui T, Otsuki Y, Sakahara H. Mesenchymal chondrosarcoma of the orbit: imaging features of CT and MRI. Figure 5: Immunohistochemical features of MCS: cytoplasmic positivity for CD99 in the small cell component (IHC stain). Br J Radiol 2018;91:20170579. 5. Yang BT, Wang YZ, Wang XY, Wang ZC. Mesenchymal chon- drosarcoma of the orbit: CT and MRI findings. Clin Radiol 2012;67:346–51. 6. Font RL, Ray R, Mazow ML, Del Valle M. Mesenchymal chon- drosarcoma of the orbit: a unique radiologic-pathologic cor- relation. Ophthalmic Plast Reconstr Surg 2009;25:219–22. 7. Bagheri A, Abbaszadeh M, Torbati P, Rezaei KM. Mesenchymal chondrosarcoma of the orbit attached to the optic nerve. J Craniofac Surg 2018;29:e591–4. 8. Wehrli BM, Huang W, De Crombrugghe B, Ayala AG, Czerniak B. Sox9, a master regulator of chondrogenesis, distinguishes mesenchymal chondrosarcoma from other small blue round Figure 6: Nuclear positivity for S100 in the cartilaginous component (IHC stain). cell tumors. Hum Pathol 2003;34:263–9. 9. Wang L, Motoi T, Khanin R, Olshen A, Mertens F, Bridge this entity from other small round cell tumors [8]. In addition, J, et al. Identification of a novel, recurrent HEY1-NCOA2 molecular studies have demonstrated a recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome- fusion in MSC [9], which could support the diagnosis of this wide screen of exon-level expression data. Genes Chromosomes tumor. In conclusion, although orbital MSC is a rare entity, it Cancer 2012;51:127–39. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Surgical Case Reports Oxford University Press

Primary mesenchymal chondrosarcoma of the orbit in a young female: imaging and histopathological features

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Oxford University Press
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Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2020.
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2042-8812
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10.1093/jscr/rjaa037
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Abstract

Mesenchymal chondrosarcoma (MCS) is a rare high-grade sarcoma of bone and soft tissue with highly aggressive behavior and a peak incidence in the second and third decades. We report a case of primary orbital MCS in a 30 year-old female, with radiological and clinicopathological features. Orbital MCS is an entity that should be considered in the differential diagnosis of calcified orbital lesions. INTRODUCTION visual acuity. No abnormality of the left eye was detected. Computed tomography (CT) and magnetic resonance imaging Mesenchymal chondrosarcoma (MCS) is a rare high-grade sar- (MRI) scans revealed a well-defined right intrasonic mass, in coma of bone and soft tissue firstly described by Lightenstein the upper-external quadrant with optical nerve displacement and Bernstein in 1959 [1]. without involvement of it. The endorbital mass was adherent MCS has a highly aggressive behavior and accounts for to the superior rectus muscle with a cleavage plane. CT approximately 3% of all chondrosarcoma, with a peak incidence scans demonstrated an ovoidal soft tissue mass with central in the second and third decades [2]. calcification. T1 and T2 weighted images showed an oval tumor MCS is composed of undifferentiated neoplastic cells with iso-hyperintense signal with a calcified central component. associated with areas of mature cartilage and usually a Enhanced T2 weighted images demonstrated an omogenous hemangiopericytoma-like pattern of vascularization. Up to one- tumoral enhancement except for the central calcified part third of cases of MSC arise primarily in the soft tissue, with (Fig. 1). These findings have led to a radiological-suggested dif- approximately 30 cases of orbital MSC described in the literature. ferential diagnosis between vascular malformation, cavernous Here, we report a case with primary orbital MCS in a 30 year-old hemangioma and solitary fibrous tumor. patient, an entity that should be considered in the differential An excisional biopsy of the orbital mass was performed. We diagnosis of calcified orbital lesions. found a firm, whitish nodule that measured 2.8 × 1.9 × 1.7 cm. Microscopically, the neoplasm had a typical biphasic pattern, with a hypercellular small round cell component intermixed CASE REPORT with islands of well-differentiated cartilage showing meta- A 30-year-old Caucasian female without any past medical illness plastic bone ossification. There was an abrupt transition presented with an endorbital mass of the right eye, without between the two different components of the neoplasm, proptosis. Physical examination revealed a decreased right and a hemangiopericytoma-like vascular pattern was noted Received: January 27, 2020. Accepted: February 11, 2020 Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2020. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com 1 Downloaded from https://academic.oup.com/jscr/article-abstract/2020/3/rjaa037/5813324 by DeepDyve user on 30 March 2020 2 L. D’Alì et al. Figure 1: (A–D) Imaging features of MCS: CT scans demonstrated an ovoidal soft tissue mass with central calcification (A), T2 (B) and T1 (C) weighted images showing an oval tumor with iso-hyperintense signal with a calcified central component. Enhanced T1 weighted image demonstrating an omogenous tumoral enhancement except for the central calcified part (D). Figure 3: Abrupt transition from small cell component to well differentiated cartilaginous area (H&E, high power view). Figure 2: Low-power view of the lesion showing central ossification (H&E). DISCUSSION (Figs 2–4). Immunohistochemically, the mesenchymal small Clinically, the patient did not present with proptosis, a very cell component showed focal cytoplasmic positivity for CD99, common finding in orbital chondrosarcoma patients [3]. Similar while the cartilaginous component was S100 protein-positive to previous reports [4–6], we observed ossification of the orbital (Figs 5 and 6). The neoplastic cells showed negativity for mass, a characteristic TC finding of orbital chondrosarcoma cytokeratin AE1/AE3, STAT6 (signal transducer and activator of [4, 5]. transcription-6), CD31 and CD34. The findings were consistent We also observed optic nerve displacement that is a com- with MCS. This case was sent for a second opinion to Prof. Angelo mon finding in intraorbital MCS. Optic nerve tissue involvement, Paolo Dei Tos (Department of Pathology, Azienda ULSS 2 Marca which has rarely been reported in huge tumors associated with Trevigiana, Treviso, Italy) who confirmed the diagnosis of MCS, intracranial extension [7], was not seen. also reporting nuclear positivity for SOX9, a master regulator of In our case, nuclear positivity for Sox9 was reported. This the differentiation of mesenchymal cells into chondrocytes. immunohistochemical finding could be useful to distinguish Downloaded from https://academic.oup.com/jscr/article-abstract/2020/3/rjaa037/5813324 by DeepDyve user on 30 March 2020 Primary mesenchymal chondrosarcoma of the orbit in a young female 3 should be considered in calcified lesions affecting children and young adults. CONFLICT OF INTEREST STATEMENT The authors declare that there is no conflict of interest regarding the publication of this paper. REFERENCES 1. Lightenstein L, Bernstein D. Unusual benign and malignant chondroid tumors of bone. A survey of some mesenchy- Figure 4: Typical hemangiopericytoma-like vascular pattern (H&E, high power mal cartilage tumors and malignant chondroblastic tumors, view). including a few multicentric ones, as well as many atypi- cal benign chondroblastomas and chondromyxoid fibromas. Cancer 1959;12:1142–57. 2. Tos D, Paolo A. Soft Tissue Sarcoma: A Pattern Approach to Diagnosis. Cambridge University Press, 2019, 336–40 ISBN 3. Alkatan HM, Eberhart CG, Alshomar KM, Elkhamary SM, Maktabi AMY. Primary mesenchymal chondrosarcoma of the orbit: histopathological report of 3 pediatric cases. Saudi J Ophthalmol 2018;32:69–74. 4. Tsuchiya M, Masui T, Otsuki Y, Sakahara H. Mesenchymal chondrosarcoma of the orbit: imaging features of CT and MRI. Figure 5: Immunohistochemical features of MCS: cytoplasmic positivity for CD99 in the small cell component (IHC stain). Br J Radiol 2018;91:20170579. 5. Yang BT, Wang YZ, Wang XY, Wang ZC. Mesenchymal chon- drosarcoma of the orbit: CT and MRI findings. Clin Radiol 2012;67:346–51. 6. Font RL, Ray R, Mazow ML, Del Valle M. Mesenchymal chon- drosarcoma of the orbit: a unique radiologic-pathologic cor- relation. Ophthalmic Plast Reconstr Surg 2009;25:219–22. 7. Bagheri A, Abbaszadeh M, Torbati P, Rezaei KM. Mesenchymal chondrosarcoma of the orbit attached to the optic nerve. J Craniofac Surg 2018;29:e591–4. 8. Wehrli BM, Huang W, De Crombrugghe B, Ayala AG, Czerniak B. Sox9, a master regulator of chondrogenesis, distinguishes mesenchymal chondrosarcoma from other small blue round Figure 6: Nuclear positivity for S100 in the cartilaginous component (IHC stain). cell tumors. Hum Pathol 2003;34:263–9. 9. Wang L, Motoi T, Khanin R, Olshen A, Mertens F, Bridge this entity from other small round cell tumors [8]. In addition, J, et al. Identification of a novel, recurrent HEY1-NCOA2 molecular studies have demonstrated a recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome- fusion in MSC [9], which could support the diagnosis of this wide screen of exon-level expression data. Genes Chromosomes tumor. In conclusion, although orbital MSC is a rare entity, it Cancer 2012;51:127–39.

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Journal of Surgical Case Reports – Oxford University Press

Published: Mar 1, 2020

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