Orbit, 2015; 34(1): 41–44 ! Informa Healthcare USA, Inc. ISSN: 0167-6830 print / 1744-5108 online DOI: 10.3109/01676830.2014.959610
C ASE REPORT
Malignant Peripheral Nerve Sheath Tumor of Lacrimal Nerve: A Case Report Mohammad Taher Rajabi, Hamid Riazi, Seyedeh Simindokht Hosseini, Mohammad Bagher Rajabi, Mehdi Mazloumi, Golnaz Gharehbaghi, and Fahimeh Asadi Amoli
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Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran
ABSTRACT Background: Orbital and periorbital presentation is rare for malignant peripheral nerve sheath tumors. These tumors are poorly defined spindle cell neoplasms of peripheral nerves and have not been reported to develop in the lacrimal gland to date. Aim: To report a rare presentation of malignant peripheral nerve sheath tumor in the orbital cavity. Case report: A 65-year-old man was admitted with the chief complaint of prominent right eye. His symptoms began 16 months prior to his admission. He had obvious limited ocular motion in upgaze and lateral gaze directions, as well as diplopia in all directions. He underwent imaging studies, and an iso-dense mass lesion in the lacrimal gland was revealed in orbital CT scan. In the MRI, there was a well-defined iso-intense mass lesion in T1-weighted images that was hyperintense in T2-weighted images and was enhanced with Gadolinium. Excisional biopsy revealed epithelioid and spindle cells with hyperchromatic rather than pleomorphic nuclei. Immunohistochemistry confirmed the presence of positive markers consistent with malignant peripheral nerve sheath tumor. Conclusion: Malignant peripheral nerve sheath tumor should be considered in the differential diagnosis of lacrimal gland tumors. Imaging studies may be helpful but tissue biopsy should be performed for accurate diagnosis. Complete excision of the mass lesion and adjunctive chemotherapy and radiotherapy should be considered in these cases. Keywords: Lacrimal gland, malignant peripheral nerve sheath tumor
INTRODUCTION
lacrimal gland. The location, clinical behavior, and imaging features of the lesion prompted the diagnosis of benign mixed tumor. However, histopathologic investigation of the excised mass confirmed the diagnosis of MPNST.
Malignant peripheral nerve sheath tumors (MPNSTs) are very rare tumors that arise from peripheral nerves or their endings in the soft tissue terminals.1 Very few cases were described in the literature, reporting orbital and periorbital involvement for MPNSTs.2–6 The definitive diagnosis of MPNSTs is made by tissue biopsy. Complete excision is the most beneficial treatment, but postoperative radiotherapy and chemotherapy are usually performed. Mortality rate is reported about 60–70% in the literature.3 Here, we report the first case, to the best of our knowledge, of a malignant peripheral nerve sheath tumor of the lacrimal nerve located in the
CASE REPORT A 65-year-old man with a previous history of facial trauma came to our clinic (Orbital and Reconstructive Surgery Clinic, Farabi Eye Hospital, Tehran University of Medical Sciences) with a chief complaint of gradual enlargement in the superotemporal region of his right orbit, consistent with the
Received 28 November 2013; Revised 25 August 2014; Accepted 26 August 2014; Published online 29 September 2014 Correspondence: Hamid Riazi Esfahani, Eye Research Center, Farabi Eye Hospital, Qazvin Square, Tehran, 1336616351, Iran, Tel: +98-2155421006. Fax: +98-21-55416134. E-mail: [email protected]
41
Orbit Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
42 M. T. Rajabi et al. location of lacrimal gland. His symptoms had begun 16 months prior to his visit, and his facial trauma was in the context of a car accident that had led to zygomatic fracture. He had a vague pain in the right orbit and complained of diplopia in all directions of gaze, though he had no alteration in visual acuity. His right eye had a 4-mm non-axial proptosis with inferonasal displacement of the globe. Limitation in motion was obvious in upward and lateral directions of gaze, and he had prominent right upper lid swelling. There was a mild conjunctival injection, and the cornea was normal. A spiral orbital CT-scan revealed a large extraconal isodense mass in the superotemporal part of right orbit within the lacrimal gland region. There was fine bony erosion and excavation in the location of the tumor on the zygomatic bone. The mass was encapsulated and had a homogenous density. The right globe was indented and displaced inferonasally by the mass. The MRI revealed a well-defined
iso-intense mass lesion in T1-weighted images that was hyperintense in T2-weighted images and had Gadolinium enhancement (see Figure 1). With presumed diagnosis of benign or malignant mixed tumor of the lacrimal gland, we performed right anterior orbitotomy for excisional biopsy. The excised tissue was a firm, tan-brown mass lesion measuring 2.8 1.5 1 cm. Histologic examination revealed neoplastic tissue composed of epithelioid and spindle cells with hyperchromatic rather than pleomorphic nuclei (see Figure 2). These cells were arranged in sheets and fascicles in a myxoid stroma and had brisk mitotic activity with mild-to-moderate atypia and small locus of necrosis that was compatible with WHO’s grade III Classification of the Central Nervous System tumors. A thin fibrotic capsule had covered the tumor. Immunohistochemistry showed that CD68, Vimentin and S100 markers were positive in the tumor cells, and Ki67 was positive in 5% of these cells (see Figure 3).
FIGURE 1. (A) Iso-intense mass in T1 weighted MRI with anterior globe displacement in two different axial cross sections (B) Hyperintense mass in T2-weighted MRI images. Orbit
Orbit Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
Lacrimal Malignant Peripheral Nerve Sheath Tumor
43
FIGURE 2. Hematoxylin and Eosin(H&E) Tissue staining. Tissue pathology that contains epithelioid cells with abundant eosinophilic cytoplasm and vesicular nucleus that is compatible with malignant peripheral nerve sheet tumor. (A) Spindle cells area; (B) Epithelioid cells with abundant eosinophilic cytoplasm and vesicular nucleus; and, (C) Glandular differentiation area.
FIGURE 3. Immunohistochemistry tissue staining: (A) Immunostaining for S100 marker; (B) Epithelial Membrane Antigen (EMA) was positive in the glands; and, (C) Immunostaining for Vimetin marker.
These findings were compatible with a diagnosis of malignant peripheral nerve sheath tumor of the lacrimal nerve ending in the lacrimal gland. Having the confirmation of negative margin by our pathologist, local radiotherapy was started. Chest CT and whole body bone scan did not reveal any metastasis. The patient was examined monthly in clinic, and MRI was done after 8 months of surgery. Systemic workups were also carried out by an expert oncologist during this time. There was no evidence of recurrence or other organ involvement during 10 months follow-up after surgery.
Comment Malignant peripheral nerve sheath tumors are very rare and aggressive neoplasms. Because of the unclear !
2015 Informa Healthcare USA, Inc.
origin of these tumors, the term ‘‘MPNST’’ is now widely used instead of the terms such as ‘‘neurofibrosarcoma,’’ ‘‘neurogenic sarcoma,’’ or ‘‘malignant schwannoma.’’5 In general, the prognosis of these tumors is poor, and 5-year survival rate is about 52% in patients with tumors occurring at all sites, although Minovi et al. found the 5-year survival rate in their series of head and neck tumors to be 20%.2,3 Local recurrences have been estimated to occur in 38–45% of patients, and metastases rate have been reported between 40–82% in different studies.4 Schmidt et al. systematically reviewed literature on MPNSTs of the trigeminal nerve and reported that most of these tumors were raised from mandibular branch (72.0%), followed by the maxillary branch (60.0%), and the ophthalmic branch (32.0%), with 44.0% of patients exhibiting involvement of 2 or more
Orbit Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
44 M. T. Rajabi et al. branches. Among ophthalmic branch tumors, none of them was raised from lacrimal division.6 Only a few supraorbital nerve (a branch of first division of trigeminal nerve) involvements have been reported but none have been reported in the lacrimal gland.6,7 MRI of MPNSTs usually shows a well-defined mass lesion with mixed components. Cystic components are sometimes presented within tumor, and perineural invasion can be observed by enlargement of the nerve or neural enhancement in contrastenhanced images.5 Since these lesions grow inside the nerve sheath, they adopt a spindle or globular well-circumscribed macroscopic appearance. They usually do not have a true capsule but rather a pseudocapsule that may be reported in macroscopic view. Histopathological examination usually indicates a monomorphic population of spindle cells arranged in fascicles consisting of fibroblastic, schwannian, epithelioid and frankly anaplastic-pleomorphic cells. Immunohistochemistry stains demonstrate focal S-100 protein positivity in 70% of tumor cells, which is traditionally known as the best marker for MPNSTs. However, HMB-45 is usually negative and cytokeratin is always negative for tumor cells, which are markers associated with melanoma and carcinoma, respectively. MPNSTs may also show reactivity for CD56 or myelin basic protein, which was consistent with our case’s pathology report.6,8 These tumors have a highly infiltrative nature, hence aggressive resection is the treatment of choice, and adjacent radiotherapy can increase tumor control due to relatively high rates of recurrence. The role of chemotherapy in non-metastatic patients is not clearly identified.3,6 To our knowledge, there has been no previous report of MPNSTs within the lacrimal gland. Without tissue diagnosis by histology and immunohistochemistry, our case could have been misdiagnosed as
lacrimal epithelioid neoplasm, lymphoproliferative infiltration of lacrimal gland, Sarcoidosis and Wegener’s granulomatosis. We can conclude that MPNSTs of lacrimal nerve can be added to the differential diagnosis of lacrimal fossa tumors.
DECLARATION OF INTEREST The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
REFERENCES 1. Aydin MD, Yildirim U, Gundogdu C, et al. Malignant peripheral nerve sheath tumor of the orbit: case report and literature review. Skull Base 2004;14(2):109–113. 2. Wong WW, Hirose T, Scheithauer BW, et al. Malignant peripheral nerve sheath tumor: analysis of treatment outcome. Int J Radiat Oncol Biol Phys 1998;42:351–360. 3. Minovi A, Basten O, Hunter B, et al. Malignant peripheral nerve sheath tumors of the head and neck: management of 10 cases and literature review. Head Neck 2007;29: 439–445. 4. Stark AM, Buhl R, Hugo HM, et al. Malignant peripheral nerve sheath tumours—report of 8 cases and review of the literature. Acta Neurochir 2001;143:357–364. 5. Hrehorovich PA, Franke HR, Maximin S, et al. Malignant peripheral nerve sheath tumor. Radiographics 2003;23: 790–794. 6. Schmidt RF, Yick F, Boghani Z, Eloy JA, Liu JK. Malignant peripheral nerve sheath tumors of the trigeminal nerve: a systematic review of 36 cases. Neurosurg Focus 2013; 34(3):E5. 7. Martinez-Devesa P, Mitchell TE, Scott I, et al. Malignant peripheral nerve sheath tumors of the head and neck: two cases and a review of the literature. Ear Nose Throat J 2006; 85:392–396. 8. Ducatman BS, Scheihauer BW, Piepgras DG, et al. Malignant peripheral nerve sheath tumors: a clinicopathologic study of 120 cases. Cancer 1986;57:2006–2021.
Orbit
C ASE REPORT
Malignant Peripheral Nerve Sheath Tumor of Lacrimal Nerve: A Case Report Mohammad Taher Rajabi, Hamid Riazi, Seyedeh Simindokht Hosseini, Mohammad Bagher Rajabi, Mehdi Mazloumi, Golnaz Gharehbaghi, and Fahimeh Asadi Amoli
Orbit Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran
ABSTRACT Background: Orbital and periorbital presentation is rare for malignant peripheral nerve sheath tumors. These tumors are poorly defined spindle cell neoplasms of peripheral nerves and have not been reported to develop in the lacrimal gland to date. Aim: To report a rare presentation of malignant peripheral nerve sheath tumor in the orbital cavity. Case report: A 65-year-old man was admitted with the chief complaint of prominent right eye. His symptoms began 16 months prior to his admission. He had obvious limited ocular motion in upgaze and lateral gaze directions, as well as diplopia in all directions. He underwent imaging studies, and an iso-dense mass lesion in the lacrimal gland was revealed in orbital CT scan. In the MRI, there was a well-defined iso-intense mass lesion in T1-weighted images that was hyperintense in T2-weighted images and was enhanced with Gadolinium. Excisional biopsy revealed epithelioid and spindle cells with hyperchromatic rather than pleomorphic nuclei. Immunohistochemistry confirmed the presence of positive markers consistent with malignant peripheral nerve sheath tumor. Conclusion: Malignant peripheral nerve sheath tumor should be considered in the differential diagnosis of lacrimal gland tumors. Imaging studies may be helpful but tissue biopsy should be performed for accurate diagnosis. Complete excision of the mass lesion and adjunctive chemotherapy and radiotherapy should be considered in these cases. Keywords: Lacrimal gland, malignant peripheral nerve sheath tumor
INTRODUCTION
lacrimal gland. The location, clinical behavior, and imaging features of the lesion prompted the diagnosis of benign mixed tumor. However, histopathologic investigation of the excised mass confirmed the diagnosis of MPNST.
Malignant peripheral nerve sheath tumors (MPNSTs) are very rare tumors that arise from peripheral nerves or their endings in the soft tissue terminals.1 Very few cases were described in the literature, reporting orbital and periorbital involvement for MPNSTs.2–6 The definitive diagnosis of MPNSTs is made by tissue biopsy. Complete excision is the most beneficial treatment, but postoperative radiotherapy and chemotherapy are usually performed. Mortality rate is reported about 60–70% in the literature.3 Here, we report the first case, to the best of our knowledge, of a malignant peripheral nerve sheath tumor of the lacrimal nerve located in the
CASE REPORT A 65-year-old man with a previous history of facial trauma came to our clinic (Orbital and Reconstructive Surgery Clinic, Farabi Eye Hospital, Tehran University of Medical Sciences) with a chief complaint of gradual enlargement in the superotemporal region of his right orbit, consistent with the
Received 28 November 2013; Revised 25 August 2014; Accepted 26 August 2014; Published online 29 September 2014 Correspondence: Hamid Riazi Esfahani, Eye Research Center, Farabi Eye Hospital, Qazvin Square, Tehran, 1336616351, Iran, Tel: +98-2155421006. Fax: +98-21-55416134. E-mail: [email protected]
41
Orbit Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
42 M. T. Rajabi et al. location of lacrimal gland. His symptoms had begun 16 months prior to his visit, and his facial trauma was in the context of a car accident that had led to zygomatic fracture. He had a vague pain in the right orbit and complained of diplopia in all directions of gaze, though he had no alteration in visual acuity. His right eye had a 4-mm non-axial proptosis with inferonasal displacement of the globe. Limitation in motion was obvious in upward and lateral directions of gaze, and he had prominent right upper lid swelling. There was a mild conjunctival injection, and the cornea was normal. A spiral orbital CT-scan revealed a large extraconal isodense mass in the superotemporal part of right orbit within the lacrimal gland region. There was fine bony erosion and excavation in the location of the tumor on the zygomatic bone. The mass was encapsulated and had a homogenous density. The right globe was indented and displaced inferonasally by the mass. The MRI revealed a well-defined
iso-intense mass lesion in T1-weighted images that was hyperintense in T2-weighted images and had Gadolinium enhancement (see Figure 1). With presumed diagnosis of benign or malignant mixed tumor of the lacrimal gland, we performed right anterior orbitotomy for excisional biopsy. The excised tissue was a firm, tan-brown mass lesion measuring 2.8 1.5 1 cm. Histologic examination revealed neoplastic tissue composed of epithelioid and spindle cells with hyperchromatic rather than pleomorphic nuclei (see Figure 2). These cells were arranged in sheets and fascicles in a myxoid stroma and had brisk mitotic activity with mild-to-moderate atypia and small locus of necrosis that was compatible with WHO’s grade III Classification of the Central Nervous System tumors. A thin fibrotic capsule had covered the tumor. Immunohistochemistry showed that CD68, Vimentin and S100 markers were positive in the tumor cells, and Ki67 was positive in 5% of these cells (see Figure 3).
FIGURE 1. (A) Iso-intense mass in T1 weighted MRI with anterior globe displacement in two different axial cross sections (B) Hyperintense mass in T2-weighted MRI images. Orbit
Orbit Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
Lacrimal Malignant Peripheral Nerve Sheath Tumor
43
FIGURE 2. Hematoxylin and Eosin(H&E) Tissue staining. Tissue pathology that contains epithelioid cells with abundant eosinophilic cytoplasm and vesicular nucleus that is compatible with malignant peripheral nerve sheet tumor. (A) Spindle cells area; (B) Epithelioid cells with abundant eosinophilic cytoplasm and vesicular nucleus; and, (C) Glandular differentiation area.
FIGURE 3. Immunohistochemistry tissue staining: (A) Immunostaining for S100 marker; (B) Epithelial Membrane Antigen (EMA) was positive in the glands; and, (C) Immunostaining for Vimetin marker.
These findings were compatible with a diagnosis of malignant peripheral nerve sheath tumor of the lacrimal nerve ending in the lacrimal gland. Having the confirmation of negative margin by our pathologist, local radiotherapy was started. Chest CT and whole body bone scan did not reveal any metastasis. The patient was examined monthly in clinic, and MRI was done after 8 months of surgery. Systemic workups were also carried out by an expert oncologist during this time. There was no evidence of recurrence or other organ involvement during 10 months follow-up after surgery.
Comment Malignant peripheral nerve sheath tumors are very rare and aggressive neoplasms. Because of the unclear !
2015 Informa Healthcare USA, Inc.
origin of these tumors, the term ‘‘MPNST’’ is now widely used instead of the terms such as ‘‘neurofibrosarcoma,’’ ‘‘neurogenic sarcoma,’’ or ‘‘malignant schwannoma.’’5 In general, the prognosis of these tumors is poor, and 5-year survival rate is about 52% in patients with tumors occurring at all sites, although Minovi et al. found the 5-year survival rate in their series of head and neck tumors to be 20%.2,3 Local recurrences have been estimated to occur in 38–45% of patients, and metastases rate have been reported between 40–82% in different studies.4 Schmidt et al. systematically reviewed literature on MPNSTs of the trigeminal nerve and reported that most of these tumors were raised from mandibular branch (72.0%), followed by the maxillary branch (60.0%), and the ophthalmic branch (32.0%), with 44.0% of patients exhibiting involvement of 2 or more
Orbit Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
44 M. T. Rajabi et al. branches. Among ophthalmic branch tumors, none of them was raised from lacrimal division.6 Only a few supraorbital nerve (a branch of first division of trigeminal nerve) involvements have been reported but none have been reported in the lacrimal gland.6,7 MRI of MPNSTs usually shows a well-defined mass lesion with mixed components. Cystic components are sometimes presented within tumor, and perineural invasion can be observed by enlargement of the nerve or neural enhancement in contrastenhanced images.5 Since these lesions grow inside the nerve sheath, they adopt a spindle or globular well-circumscribed macroscopic appearance. They usually do not have a true capsule but rather a pseudocapsule that may be reported in macroscopic view. Histopathological examination usually indicates a monomorphic population of spindle cells arranged in fascicles consisting of fibroblastic, schwannian, epithelioid and frankly anaplastic-pleomorphic cells. Immunohistochemistry stains demonstrate focal S-100 protein positivity in 70% of tumor cells, which is traditionally known as the best marker for MPNSTs. However, HMB-45 is usually negative and cytokeratin is always negative for tumor cells, which are markers associated with melanoma and carcinoma, respectively. MPNSTs may also show reactivity for CD56 or myelin basic protein, which was consistent with our case’s pathology report.6,8 These tumors have a highly infiltrative nature, hence aggressive resection is the treatment of choice, and adjacent radiotherapy can increase tumor control due to relatively high rates of recurrence. The role of chemotherapy in non-metastatic patients is not clearly identified.3,6 To our knowledge, there has been no previous report of MPNSTs within the lacrimal gland. Without tissue diagnosis by histology and immunohistochemistry, our case could have been misdiagnosed as
lacrimal epithelioid neoplasm, lymphoproliferative infiltration of lacrimal gland, Sarcoidosis and Wegener’s granulomatosis. We can conclude that MPNSTs of lacrimal nerve can be added to the differential diagnosis of lacrimal fossa tumors.
DECLARATION OF INTEREST The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
REFERENCES 1. Aydin MD, Yildirim U, Gundogdu C, et al. Malignant peripheral nerve sheath tumor of the orbit: case report and literature review. Skull Base 2004;14(2):109–113. 2. Wong WW, Hirose T, Scheithauer BW, et al. Malignant peripheral nerve sheath tumor: analysis of treatment outcome. Int J Radiat Oncol Biol Phys 1998;42:351–360. 3. Minovi A, Basten O, Hunter B, et al. Malignant peripheral nerve sheath tumors of the head and neck: management of 10 cases and literature review. Head Neck 2007;29: 439–445. 4. Stark AM, Buhl R, Hugo HM, et al. Malignant peripheral nerve sheath tumours—report of 8 cases and review of the literature. Acta Neurochir 2001;143:357–364. 5. Hrehorovich PA, Franke HR, Maximin S, et al. Malignant peripheral nerve sheath tumor. Radiographics 2003;23: 790–794. 6. Schmidt RF, Yick F, Boghani Z, Eloy JA, Liu JK. Malignant peripheral nerve sheath tumors of the trigeminal nerve: a systematic review of 36 cases. Neurosurg Focus 2013; 34(3):E5. 7. Martinez-Devesa P, Mitchell TE, Scott I, et al. Malignant peripheral nerve sheath tumors of the head and neck: two cases and a review of the literature. Ear Nose Throat J 2006; 85:392–396. 8. Ducatman BS, Scheihauer BW, Piepgras DG, et al. Malignant peripheral nerve sheath tumors: a clinicopathologic study of 120 cases. Cancer 1986;57:2006–2021.
Orbit
