Int Ophthalmol DOI 10.1007/s10792-014-9937-5
CASE REPORT
Primary Ewing’s sarcoma of the orbit with intracranial extension abutting the temporal lobe: a rare case report Syed Hassan Abbas Naqvi • Saad Hameed Syed Hassan Shiraz Naqvi • Muhammad Anis Musani
•
Received: 7 April 2013 / Accepted: 22 March 2014 Ó Springer Science+Business Media Dordrecht 2014
Abstract Ewing’s sarcoma is a small, blue, roundcell tumor of mesenchymal origin which typically presents itself during the first and the second decades of life. Typically, it is noticed in the long bones of the limbs, pelvis, or ribs. There have been few reports worldwide with none in Pakistan of this rare phenomenon. We report here the case of a 16-year-old female diagnosed with Ewing’s sarcoma with intracranial extension abutting the temporal lobe resulting in proptosis and partial loss of vision in the left eye. The purpose of this case is to discuss the clinicoradiological presentation, microscopic description, and management of the patient.
Introduction Ewing’s sarcoma is a malignancy which characteristically arises from bone or soft tissue [1]. It is exceptionally uncommon; however, when it arises it is generally appreciated within the pediatric population [2]. Our case is the first ever reported in Pakistan. In this study, we report a case of a young girl presenting with a painful bulging mass protruding from the left eye resulting in the deterioration of her vision. The purpose of this report is to focus on the clinicoradiological presentation, microscopic description, and management of this rare entity that extended into the extradural space alongside the temporal lobe.
Keywords Ewing’s sarcoma Intracranial Diagnosis Management Case report
S. H. A. Naqvi S. H. S. Naqvi Dow Medical College, Dow University of Health Sciences, Baba-e-Urdu Road, Karachi, Pakistan S. H. A. Naqvi (&) C-116 Block I, North Nazimabad, Karachi 74700, Pakistan e-mail: [email protected] S. Hameed M. A. Musani Sindh Medical College, Dow University of Health Sciences, Rafiqui H.J. Shaheed Road, Karachi, Pakistan
A 16-year-old female presented with a painful, progressive, bulging mass on the left eye for the past 3 months prior to her initial visit which was associated with blurred vision. According to the patient, she was in her usual state of health until 1 months prior to her initial visit. Her history suggested that she had bulging in the same eye twice before this incident which was diagnosed as Ewing’s sarcoma for which she received surgical (excision) treatment which was completed 2 years prior to her arrival. During inspection, there was no associated fever, diplopia, strabismus, weight loss, or inflammation anywhere else on the body.
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Int Ophthalmol
On initial investigation, a computed tomography (CT) scan was completed. The axial, coronal, and sagittal views of the orbit were obtained through these images. They revealed a focal defect with erosive changes in the lateral wall of the left orbit which was associated with a small soft tissue density component measuring 2 9 1.6 cm (AP 9 TS) (Fig. 1). The scans also disclosed intraorbital and extraconal extensions along with abutting and displacing of the left rectus
Fig. 1 Computed Tomography scan revealing a lateral mass in the left orbit
Fig. 2 Magnetic resonance imaging scan displaying displacement of the left rectus muscle and lateral margins of the globe along with intraorbital and extraconal extension abutting the temporal lobe
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muscle and lateral margins of the globe (Fig. 2). Furthermore, a T1/T2 weighted magnetic resonance imaging (MRI) scan was performed. These images demonstrated abnormal signal intensity areas in the superolateral aspect of the left orbit involving the greater wing of the sphenoid and the adjacent part of the zygomatic bone. On evaluation, the measurement of the specimen was 25 9 19 9 15 mm (AP 9 TS 9 CC). Moreover, there was minimal extension into the extradural space with abutting of the temporal lobe which was considered as an exclusive finding. Finally, no identification of gross intracranial bleeding or infarction within the area was observed. Considering the patients age and image findings, we originally considered several differential diagnoses including: Ewing’s sarcoma, rhabdomyosarcoma, desmoplastic small roundcell tumor, and primitive neuroectodermal tumor. A fine-needle biopsy was performed which displayed an irregular brown mass measuring 3 9 2.5 cm with a soft and friable surface. On histological survey, the specimen showed multiple tissue fragments exhibiting neoplastic lesions composed of cells arranged in diffuse sheets (Fig. 3). Within these neoplastic cells, we noticed the presence of an eosinophilic cytoplasm in which the nuclei were seen as round to oval, showing pleomorphism with open chromatin pattern and inconspicuous nucleoli. There was also appreciation of hemorrhagic areas along with inflammatory cells. Furthermore, fibrocollagenous tissues along with glands and acini were seen. The tumor cells were
Int Ophthalmol
Postoperatively, there were no signs of visual deterioration or complications. A course of chemoradiotherapy was the next course of action offered to our patient. Chemotherapy was given once a day, five times a week for four month. The four-drug regimen for chemotherapy consisted of vincristine, doxorubicin, endoxan, and MESNA. She then received a total of 45 Gy radiotherapy for 5 weeks after her chemotherapy. At a follow-up of 3 months, there was notably greater extraocular movement of the patient’s eye with substantially decreased proptosis. Furthermore, CT scans showed no regrowth of any mass. Discussion Fig. 3 Histopathology image showing neoplastic lesions composed of cells arranged in diffuse sheets
Fig. 4 Immunohistochemical image staining positive for CD99
positive for glycogen, highlighted by a special stain (PAS ± D). On immunohistochemical profile, our findings revealed that cytokeratin AE1/AE3, desmin, and CD1a were negative, while Mic-2 (CD99) was positive (Fig. 4), staining diffusely particularly in the cell membranes. Now a day, molecular diagnosis like FISH and RT-PCR can also be done in the ES sample to identify the genetic make-up (to detect the transcript). However, due to the low status income of our patient and sub-par facilities, conducting these tests was not possible. Hence, the evidence from the scans along with the characteristic morphological and immunohistochemical features of the tumor, it was declared that the findings were consistent with that of Ewing’s sarcoma.
Primary Ewing’s sarcoma arising from the orbit with intracranial extension is a rare phenomenon [3]. Of all the known cases, involvement of the skull occurs in \1 % of the patients with no predilection to a particular sex [4–8]. The infrequency of this tumor, along with the unusual presentation and location in our patient, greatly hampered the promptness of our diagnosis. The purpose of reporting this case is to stress the clinicoradiological presentation, microscopic description, and therapeutic management of the patient. As observed in the present case, the most common radiological finding associated with Ewing’s sarcoma of the orbit is a heterogeneous mass which is generally located in the superior or lateral orbit [9]. However, unlike most findings, our patient’s imaging studies revealed an intracranial extension of the tumor toward the temporal lobe. In addition, there was appreciation of painful proptosis in the left orbit which was also an uncommon finding [10]. Although the majority of cases of primary orbital Ewing’s Sarcoma are painless, there have published reports of painful primary orbital Ewing’s sarcoma in the literature [11, 12]. In addition, erosive changes in the left lateral wall were appreciated in our patient along with accompanying periosteal reactions. Kano T et al. reported that their patient had involvement of the lateral orbital wall (similar to our patient) which may have suggested the reason for the pain experienced by the patient. Thus, we believe that the bony involvement may be related to the painful presentation. According to Coley and colleagues review, 90 patients with primary Ewing’s sarcoma were studied in which no tumors were involved in the
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Int Ophthalmol
head and neck region, further demonstrating the rareness of this malignancy [13]. On immunohistochemical analysis, our patient displayed a small roundcell tumor which is a diagnostic finding of Ewing’s sarcoma. Moreover, we concluded that our patient was positive for CD99. According to Chokthaweesak et al. [9], 4 out of 5 of her patients with orbital Primitive neuroectodermal tumor (PNET)/Ewing’s sarcoma demonstrated strong immunohistochemical staining for CD99 in a membranous pattern. The recognition of this fusion gene product played an important role in our diagnosis. The treatment protocol of our patient included a combined regimen of surgery, chemotherapy (vincristine, doxorubicin, endoxan, and MESNA), and radiotherapy. However, other chemotherapeutic agents such as ifosfamide and etoposide have also shown encouraging outcomes in numerous cases [14]. Results from various studies have proved that early detection and radical excision followed by aggressive chemotherapy and radiotherapy are highly recommended for having an improved outcome in the treatment of Ewing’s sarcoma.
Conclusion Ewing’s sarcoma with intracranial extension abutting the temporal lobe is a rare manifestation of the disease. However, with an appropriate diagnostic and management protocol, patients can be optimistic for an improved prognosis and a better quality of life as well as life expectancy. Acknowledgments The authors like to thank the patient for providing consent to publish this case. We also appreciate the Radiology Department of Jinnah Postgraduate Medical Center and Agha Khan Hospital for providing the images necessary to complete this report. We also thank Muhammad Yasin Bandukda who assisted in editing this manuscript. Conflict of interest interests exist.
123
All authors declare that no competing
References 1. Lou E, Sumrall AL, Cummings TJ, Korones DN, Weaver SA, Peters KB (2012) Disseminated intracranial Ewing’s sarcoma in an adult: a rare and difficult diagnosis. Case Rep Oncol 5(2):325–331 2. Arndt CA, Crist WM (1999) Common musculoskeletal tumors of childhood and adolescence. N Engl J Med 29:341–352 3. Nair AP, Bettaswamy G, Jaiswal AK, Garg P, Jaiswal S, Behari S (2011) Ewing’s sarcoma of the orbit with intracranial extension: a rare cause of unilateral proptosis. J Pediatr Neurosci 6(1):36–39 4. Desai KI, Nadkarni TD, Goel A, Muzumdar DP, Naresh KN, Nair CN (2000) Primary Ewing’s sarcoma of the cranium. Neurosurgery 46:62–68 5. Bricha M, Jroundi L, Boujida N, El Hassani MR, Chakir N, Jiddane M (2007) Primary Ewing sarcoma of the skull vault [Article in French]. J Radiol 88:1899–1901 6. Garg A, Ahmad FU, Suri A, Mahpatra AK, Mehta VS, Atri S et al (2007) Primary Ewing’s sarcoma of the occipital bone presenting as hydrocephalus and blindness. Pediatr Neurosurg 43:170–173 7. Jaurgens HF, Sauer R, Winkelmann W, Gaobel U (1995) Ewing’s sarcoma. In: Peckam M, Pinedo HM, Veronesi U (eds) Oxford textbook of oncology, vol 2. Medical Publications, Oxford, pp 1953–1960 8. Agrawal A, Dulani R, Mahadevan A, Vagaha SJ, Vagha J, Shankar SK (2009) Primary Ewing’s sarcoma of the frontal bone with intracranial extension. J Cancer Res Ther 5(3):208–209 9. Chokthaweesak W, Annunziata CC, Alsheikh O, Ng JD, Wilson DJ, Mansoor A, Kaimatchiev V, Weatherhead R, Rootman J, Mannor G, Leelapatranurak K, Korn BS, Kikkawa DO (2001) Primitive neuroectodermal tumor of the orbit in adults: a case series. Opthal Plast Reconstr Surg 27(3):173–179 10. Nair Anup P, Bettaswamy Guruprasad, Jaiswal Awdhesh K, Garg Pallav, Jaiswal Sushila, Behari Sanjay (2011) Ewing’s sarcoma of the orbit with intracranial extension: a rare cause of unilateral proptosis. J Pediatr Neurosci 6(11):36–39 11. Guzowski M, Tumuluri K, Walker DM, Maloof A (2005) Primary orbital Ewing sarcoma in a middle-aged man. Opthal Plast Reconstr Surg 21(6):449–451 12. Kano T, Sasaki A, Tomizawa S, Shibasaki T, Tamura M, Ohye C (2009) Primary Ewing’s sarcoma of the orbit: case report. Brain Tumor Pathol 26(2):95–100 13. Coley BL, Higinbotham NL, Bowden L (1984) Endothelioma of bone (Ewing’s sarcoma). Ann Surg 128:533–560 14. Jain S, Kapoor G (2010) Chemotherapy in Ewing’s sarcoma. Indian J Orthop 44(4):369–377
CASE REPORT
Primary Ewing’s sarcoma of the orbit with intracranial extension abutting the temporal lobe: a rare case report Syed Hassan Abbas Naqvi • Saad Hameed Syed Hassan Shiraz Naqvi • Muhammad Anis Musani
•
Received: 7 April 2013 / Accepted: 22 March 2014 Ó Springer Science+Business Media Dordrecht 2014
Abstract Ewing’s sarcoma is a small, blue, roundcell tumor of mesenchymal origin which typically presents itself during the first and the second decades of life. Typically, it is noticed in the long bones of the limbs, pelvis, or ribs. There have been few reports worldwide with none in Pakistan of this rare phenomenon. We report here the case of a 16-year-old female diagnosed with Ewing’s sarcoma with intracranial extension abutting the temporal lobe resulting in proptosis and partial loss of vision in the left eye. The purpose of this case is to discuss the clinicoradiological presentation, microscopic description, and management of the patient.
Introduction Ewing’s sarcoma is a malignancy which characteristically arises from bone or soft tissue [1]. It is exceptionally uncommon; however, when it arises it is generally appreciated within the pediatric population [2]. Our case is the first ever reported in Pakistan. In this study, we report a case of a young girl presenting with a painful bulging mass protruding from the left eye resulting in the deterioration of her vision. The purpose of this report is to focus on the clinicoradiological presentation, microscopic description, and management of this rare entity that extended into the extradural space alongside the temporal lobe.
Keywords Ewing’s sarcoma Intracranial Diagnosis Management Case report
S. H. A. Naqvi S. H. S. Naqvi Dow Medical College, Dow University of Health Sciences, Baba-e-Urdu Road, Karachi, Pakistan S. H. A. Naqvi (&) C-116 Block I, North Nazimabad, Karachi 74700, Pakistan e-mail: [email protected] S. Hameed M. A. Musani Sindh Medical College, Dow University of Health Sciences, Rafiqui H.J. Shaheed Road, Karachi, Pakistan
A 16-year-old female presented with a painful, progressive, bulging mass on the left eye for the past 3 months prior to her initial visit which was associated with blurred vision. According to the patient, she was in her usual state of health until 1 months prior to her initial visit. Her history suggested that she had bulging in the same eye twice before this incident which was diagnosed as Ewing’s sarcoma for which she received surgical (excision) treatment which was completed 2 years prior to her arrival. During inspection, there was no associated fever, diplopia, strabismus, weight loss, or inflammation anywhere else on the body.
123
Int Ophthalmol
On initial investigation, a computed tomography (CT) scan was completed. The axial, coronal, and sagittal views of the orbit were obtained through these images. They revealed a focal defect with erosive changes in the lateral wall of the left orbit which was associated with a small soft tissue density component measuring 2 9 1.6 cm (AP 9 TS) (Fig. 1). The scans also disclosed intraorbital and extraconal extensions along with abutting and displacing of the left rectus
Fig. 1 Computed Tomography scan revealing a lateral mass in the left orbit
Fig. 2 Magnetic resonance imaging scan displaying displacement of the left rectus muscle and lateral margins of the globe along with intraorbital and extraconal extension abutting the temporal lobe
123
muscle and lateral margins of the globe (Fig. 2). Furthermore, a T1/T2 weighted magnetic resonance imaging (MRI) scan was performed. These images demonstrated abnormal signal intensity areas in the superolateral aspect of the left orbit involving the greater wing of the sphenoid and the adjacent part of the zygomatic bone. On evaluation, the measurement of the specimen was 25 9 19 9 15 mm (AP 9 TS 9 CC). Moreover, there was minimal extension into the extradural space with abutting of the temporal lobe which was considered as an exclusive finding. Finally, no identification of gross intracranial bleeding or infarction within the area was observed. Considering the patients age and image findings, we originally considered several differential diagnoses including: Ewing’s sarcoma, rhabdomyosarcoma, desmoplastic small roundcell tumor, and primitive neuroectodermal tumor. A fine-needle biopsy was performed which displayed an irregular brown mass measuring 3 9 2.5 cm with a soft and friable surface. On histological survey, the specimen showed multiple tissue fragments exhibiting neoplastic lesions composed of cells arranged in diffuse sheets (Fig. 3). Within these neoplastic cells, we noticed the presence of an eosinophilic cytoplasm in which the nuclei were seen as round to oval, showing pleomorphism with open chromatin pattern and inconspicuous nucleoli. There was also appreciation of hemorrhagic areas along with inflammatory cells. Furthermore, fibrocollagenous tissues along with glands and acini were seen. The tumor cells were
Int Ophthalmol
Postoperatively, there were no signs of visual deterioration or complications. A course of chemoradiotherapy was the next course of action offered to our patient. Chemotherapy was given once a day, five times a week for four month. The four-drug regimen for chemotherapy consisted of vincristine, doxorubicin, endoxan, and MESNA. She then received a total of 45 Gy radiotherapy for 5 weeks after her chemotherapy. At a follow-up of 3 months, there was notably greater extraocular movement of the patient’s eye with substantially decreased proptosis. Furthermore, CT scans showed no regrowth of any mass. Discussion Fig. 3 Histopathology image showing neoplastic lesions composed of cells arranged in diffuse sheets
Fig. 4 Immunohistochemical image staining positive for CD99
positive for glycogen, highlighted by a special stain (PAS ± D). On immunohistochemical profile, our findings revealed that cytokeratin AE1/AE3, desmin, and CD1a were negative, while Mic-2 (CD99) was positive (Fig. 4), staining diffusely particularly in the cell membranes. Now a day, molecular diagnosis like FISH and RT-PCR can also be done in the ES sample to identify the genetic make-up (to detect the transcript). However, due to the low status income of our patient and sub-par facilities, conducting these tests was not possible. Hence, the evidence from the scans along with the characteristic morphological and immunohistochemical features of the tumor, it was declared that the findings were consistent with that of Ewing’s sarcoma.
Primary Ewing’s sarcoma arising from the orbit with intracranial extension is a rare phenomenon [3]. Of all the known cases, involvement of the skull occurs in \1 % of the patients with no predilection to a particular sex [4–8]. The infrequency of this tumor, along with the unusual presentation and location in our patient, greatly hampered the promptness of our diagnosis. The purpose of reporting this case is to stress the clinicoradiological presentation, microscopic description, and therapeutic management of the patient. As observed in the present case, the most common radiological finding associated with Ewing’s sarcoma of the orbit is a heterogeneous mass which is generally located in the superior or lateral orbit [9]. However, unlike most findings, our patient’s imaging studies revealed an intracranial extension of the tumor toward the temporal lobe. In addition, there was appreciation of painful proptosis in the left orbit which was also an uncommon finding [10]. Although the majority of cases of primary orbital Ewing’s Sarcoma are painless, there have published reports of painful primary orbital Ewing’s sarcoma in the literature [11, 12]. In addition, erosive changes in the left lateral wall were appreciated in our patient along with accompanying periosteal reactions. Kano T et al. reported that their patient had involvement of the lateral orbital wall (similar to our patient) which may have suggested the reason for the pain experienced by the patient. Thus, we believe that the bony involvement may be related to the painful presentation. According to Coley and colleagues review, 90 patients with primary Ewing’s sarcoma were studied in which no tumors were involved in the
123
Int Ophthalmol
head and neck region, further demonstrating the rareness of this malignancy [13]. On immunohistochemical analysis, our patient displayed a small roundcell tumor which is a diagnostic finding of Ewing’s sarcoma. Moreover, we concluded that our patient was positive for CD99. According to Chokthaweesak et al. [9], 4 out of 5 of her patients with orbital Primitive neuroectodermal tumor (PNET)/Ewing’s sarcoma demonstrated strong immunohistochemical staining for CD99 in a membranous pattern. The recognition of this fusion gene product played an important role in our diagnosis. The treatment protocol of our patient included a combined regimen of surgery, chemotherapy (vincristine, doxorubicin, endoxan, and MESNA), and radiotherapy. However, other chemotherapeutic agents such as ifosfamide and etoposide have also shown encouraging outcomes in numerous cases [14]. Results from various studies have proved that early detection and radical excision followed by aggressive chemotherapy and radiotherapy are highly recommended for having an improved outcome in the treatment of Ewing’s sarcoma.
Conclusion Ewing’s sarcoma with intracranial extension abutting the temporal lobe is a rare manifestation of the disease. However, with an appropriate diagnostic and management protocol, patients can be optimistic for an improved prognosis and a better quality of life as well as life expectancy. Acknowledgments The authors like to thank the patient for providing consent to publish this case. We also appreciate the Radiology Department of Jinnah Postgraduate Medical Center and Agha Khan Hospital for providing the images necessary to complete this report. We also thank Muhammad Yasin Bandukda who assisted in editing this manuscript. Conflict of interest interests exist.
123
All authors declare that no competing
References 1. Lou E, Sumrall AL, Cummings TJ, Korones DN, Weaver SA, Peters KB (2012) Disseminated intracranial Ewing’s sarcoma in an adult: a rare and difficult diagnosis. Case Rep Oncol 5(2):325–331 2. Arndt CA, Crist WM (1999) Common musculoskeletal tumors of childhood and adolescence. N Engl J Med 29:341–352 3. Nair AP, Bettaswamy G, Jaiswal AK, Garg P, Jaiswal S, Behari S (2011) Ewing’s sarcoma of the orbit with intracranial extension: a rare cause of unilateral proptosis. J Pediatr Neurosci 6(1):36–39 4. Desai KI, Nadkarni TD, Goel A, Muzumdar DP, Naresh KN, Nair CN (2000) Primary Ewing’s sarcoma of the cranium. Neurosurgery 46:62–68 5. Bricha M, Jroundi L, Boujida N, El Hassani MR, Chakir N, Jiddane M (2007) Primary Ewing sarcoma of the skull vault [Article in French]. J Radiol 88:1899–1901 6. Garg A, Ahmad FU, Suri A, Mahpatra AK, Mehta VS, Atri S et al (2007) Primary Ewing’s sarcoma of the occipital bone presenting as hydrocephalus and blindness. Pediatr Neurosurg 43:170–173 7. Jaurgens HF, Sauer R, Winkelmann W, Gaobel U (1995) Ewing’s sarcoma. In: Peckam M, Pinedo HM, Veronesi U (eds) Oxford textbook of oncology, vol 2. Medical Publications, Oxford, pp 1953–1960 8. Agrawal A, Dulani R, Mahadevan A, Vagaha SJ, Vagha J, Shankar SK (2009) Primary Ewing’s sarcoma of the frontal bone with intracranial extension. J Cancer Res Ther 5(3):208–209 9. Chokthaweesak W, Annunziata CC, Alsheikh O, Ng JD, Wilson DJ, Mansoor A, Kaimatchiev V, Weatherhead R, Rootman J, Mannor G, Leelapatranurak K, Korn BS, Kikkawa DO (2001) Primitive neuroectodermal tumor of the orbit in adults: a case series. Opthal Plast Reconstr Surg 27(3):173–179 10. Nair Anup P, Bettaswamy Guruprasad, Jaiswal Awdhesh K, Garg Pallav, Jaiswal Sushila, Behari Sanjay (2011) Ewing’s sarcoma of the orbit with intracranial extension: a rare cause of unilateral proptosis. J Pediatr Neurosci 6(11):36–39 11. Guzowski M, Tumuluri K, Walker DM, Maloof A (2005) Primary orbital Ewing sarcoma in a middle-aged man. Opthal Plast Reconstr Surg 21(6):449–451 12. Kano T, Sasaki A, Tomizawa S, Shibasaki T, Tamura M, Ohye C (2009) Primary Ewing’s sarcoma of the orbit: case report. Brain Tumor Pathol 26(2):95–100 13. Coley BL, Higinbotham NL, Bowden L (1984) Endothelioma of bone (Ewing’s sarcoma). Ann Surg 128:533–560 14. Jain S, Kapoor G (2010) Chemotherapy in Ewing’s sarcoma. Indian J Orthop 44(4):369–377
