Ophthal Plast Reconstr Surg, Vol. 31, No. 1, 2015
Case Reports
6. Suwabe H, Tsutsumi Y. Reticulohistiocytoma involving the skin, subcutaneous tissue and a regional lymph node. Pathol Int 1996;46:531–7. 7. Goette DK, Odom RB, Fitzwater JE, Jr. Diffuse cutaneous reticulohistiocytosis. Arch Dermatol 1982;118:173–6. 8. Favara BE, Feller AC, Pauli M, et al. Contemporary classification of histiocytic disorders. The WHO Committee On Histiocytic/ Reticulum Cell Proliferations. Reclassification Working Group of the Histiocyte Society. Med Pediatr Oncol 1997;29:157–66. 9. Woo KI, Harris GJ. Eosinophilic granuloma of the orbit: understanding the paradox of aggressive destruction responsive to minimal intervention. Ophthal Plast Reconstr Surg 2003;19:429–39. 10. Hoffmann EM, Müller-Forell W, Pitz S, et al. Erdheim-Chester disease: a case report. Graefes Arch Clin Exp Ophthalmol 2004;242:803–7. 11. Alexiev BA, Staats PN. Erdheim-Chester disease with prominent pericardial effusion: cytologic findings and review of the literature. Diagn Cytopathol. [published online ahead of print February 28, 2013] doi: 10.1002/dc.22957. 12. Strehl JD, Stachel KD, Hartmann A, et al. Juvenile xanthogranuloma developing after treatment of Langerhans cell histiocytosis: case report and literature review. Int J Clin Exp Pathol 2012;5:720–5. 13. Pileri SA, Grogan TM, Harris NL, et al. Tumours of histiocytes and accessory dendritic cells: an immunohistochemical approach to classification from the International Lymphoma Study Group based on 61 cases. Histopathology 2002;41:1–29.
Recurrent Orbital Adult-Type Fibrosarcoma in a 3-Year-Old Girl Rehan M. Hussain, M.D.*†, Benjamin P. Erickson, M.D.*, Andrew E. Rosenberg, M.D.‡, Sander R. Dubovy, M.D.*†, and Thomas E. Johnson, M.D.* Abstract: A 3-year-old Filipino girl presented with progressive left-sided ptosis and proptosis after resection of a superomedial orbital tumor 2.5 years ago. She had been followed with serial MRI, which demonstrated interval growth of a recurrent lesion. Repeat resection was undertaken via an eyelid-splitting anterior orbitotomy. The patient’s pediatric oncologist and sarcoma specialist did not recommend adjuvant chemotherapy, and the family declined proton radiotherapy. The patient will continue to be monitored with serial imaging. Histopathology, immunohistochemistry, and reverse transcriptase polymerase chain reaction were most consistent with a diagnosis of adult-type fibrosarcoma. This is the first reported case of adult-type fibrosarcoma presenting in the orbit of a child. Fibrosarcoma is a fibroblast-derived tumor that commonly presents in the extremities, usually in patients in their fourth to sixth decades. It is rarely seen in the orbit, with the largest case series to date only including 5 patients.
underwent partial resection of the mass at that time at an outside institution. She did not receive chemotherapy or radiation therapy and was followed by a pediatric oncologist with serial MRI exams. Her medical history was also notable for hydronephrosis. On examination, the child was able to fixate and follow and did not object to covering of either eye. There was mild left-sided proptosis and ptosis of the left upper eyelid. Extraocular muscle function was difficult to assess due to lack of cooperation. The pupils were round and reactive, with no afferent pupillary defect. The palpebral fissure measurements were 8 and 6 mm in the OD and OS, respectively. The marginal reflex distance 1 (MRD1) measurements were 3 mm in the right eye and 1 mm in the left eye. Levator function and Hertel’s exophthalmometry could not be assessed. The anterior segment and fundus examinations were otherwise unremarkable. A MRI scan performed 3 months prior to presentation showed 2 superior left orbital nodules located between the superior rectus muscle and the levator palpebrae muscle. One nodule was hyperintense (tumor) and the other hypointense (postsurgical scar) on T2-weighted MRI (Fig 1). The tumor had enlarged since her last MRI performed 6 months prior, most recently measuring 11 × 8 mm. The original biopsy demonstrated a hypercellular spindle cell neoplasm containing intersecting long and short fascicles that were focally arranged in cartwheel and herringbone patterns (Fig. 2). There was increased nuclear to cytoplasmic ratio, with up to 5 mitotic figures per high power field (Fig. 3). The tumor was moderately vascular, with foci of hemorrhage and necrosis. Immunohistochemistry showed that the tumor cells stained diffusely and strongly positive for vimentin. There was focal positivity for smooth muscle actin (SMA) and muscle specific actin (MSA), particularly in cells surrounding blood vessels. Stains for CD34, S100, CD99, Pancytokeratin, EMA, desmin, B CL-2, and MyoD1 were predominantly negative in neoplastic cells. Reverse transcription polymerase chain reaction (PCR) was performed on total ribonucleic acid extracted from the paraffin-embedded tumor and was found to be negative for the SYT/synovial sarcoma X fusion transcripts that usually arise
CASE REPORT A 3-year-old Filipino girl presented with progressive left-sided proptosis and ptosis. She had been previously diagnosed with a left orbital tumor at 6 months of age, and she Accepted for publication September 7, 2013. *Bascom Palmer Eye Institute, University of Miami Miller School of Medicine; †Florida Lions Eye Bank; and ‡Department of Pathology, University of Miami Hospital, Miami, Florida, U.S.A. Presented at the Advances in Orbital Oncology and Oculofacial Plastic Surgery, M.D. Anderson Hospital, Houston, Texas, on September 2, 2013. This was project was funded by the Florida Lions Eye Bank and Ocular Pathology Laboratory. The authors have no financial or conflicts of interest to disclose. Address correspondence and reprint requests to Thomas E. Johnson, M.D., 900 NW 17th St., Miami, FL 33136. E-mail: [email protected]
e16
FIG. 1. T2-weighted MRI shows a hyperintense nodule in the superior left orbit between the superior rectus muscle and the levator palpebrae muscle.
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
Ophthal Plast Reconstr Surg, Vol. 31, No. 1, 2015
Case Reports
FIG. 2. Histology of resected tumor: neoplastic spindle cells are arranged in a herringbone pattern. (Hematoxylin-eosin, ×100).
FIG. 4. Postoperative T2-weighted MRI shows a very small hyperintense nodule in the area of the previous resection.
FIG. 3. Some tumor cells were atypical and contained large hyperchromatic nuclei, as marked by the arrow (Hematoxylineosin, ×400).
from the t(X;18) translocation (seen in synovial sarcoma). PCR was also negative for the ETS variant 6/neurotrophic tyrosine kinase receptor, type 3 chimeric transcripts that usually result from the t(12;15) translocation that is seen in infantile fibrosarcoma. Based on the morphologic and immunohistochemical findings, the tumor was classified as an “Adult-type fibrosarcoma, intermediate grade (grade II), with myxoid features.” The patient underwent repeat tumor resection via an eyelid-splitting anterior orbitotomy. The surgeons felt confident that the entire gross tumor was resected, although microscopic residua may have been left behind as the tumor was dissected off the adjacent levator and superior rectus muscles (Fig. 4). The histology of the resected tumor was identical to that seen in the initial biopsy (Fig. 2). She has not received adjuvant chemotherapy, per the recommendation of a consulting sarcoma specialist, and her own pediatric oncologist. She was referred for proton beam radiotherapy, but the family declined treatment due to the possible side effects of treatment and the relatively slow growth of the tumor over the past 2.5 years. She will continue to be followed with serial imaging.
DISCUSSION Fibrosarcomas are neoplasms composed of malignant spindle-shaped fibroblasts that are arranged in a classic
herringbone pattern or interlacing fascicles and produce collagen. They may contain a myxoid stroma with thin-walled vessels, as in the case we present. Fibrosarcoma can be divided in either adult-type or infantile-type. Despite the young age of the presented patient, we believe she had an adult-type fibrosarcoma, as reverse transcription PCR confirmed the absence of ETS variant 6 gene rearrangement, characteristic of infantile fibrosarcoma. To the best of the authors’ knowledge, this is the first reported case of adult-type fibrosarcoma presenting in the orbit of a young child. Adult-type fibrosarcoma most often presents in patients aged 30 to 55 years old.1 It is important to differentiate fibrosarcoma of the orbit from rhabdomyosarcoma, the most common primary pediatric orbital malignancy. The tumor cells in both embryonal and alveolar rhabdomyosarcoma often show greater cytologic atypia and by immunohistochemistry express desmin, myogenin, and MyoD1.2 Fibrosarcoma is differentiated from fibromatosis by the presence of increased cellularity, cytologic atypia, necrosis, and the herringbone pattern. Other spindle cell tumors to be included in the differential diagnosis include benign fibrous histiocytoma, nodular fasciitis, malignant peripheral nerve sheath tumor, and synovial sarcoma.1 The pathologic diagnosis of “fibrosarcoma” presents a diagnostic challenge, as many tumors thought to be fibrosarcoma in the past may actually represent other soft tissue sarcomas; diagnostic advances in immunohistochemistry and cytogenetics have contributed to the reclassification of fibrosarcoma in numerous variant forms, thus making it difficult to compare the results of older published studies with more recent ones.3 Fibrosarcoma has no characteristic symptoms, and most patients present with a slowly growing solitary palpable mass ranging from 3 to 8 cm in greatest dimension. Telangiectasia, surface ulceration, and bleeding may be present in more superficially located cases.1,4 Adult-type fibrosarcoma is an uncommon tumor that accounts for
Case Reports
6. Suwabe H, Tsutsumi Y. Reticulohistiocytoma involving the skin, subcutaneous tissue and a regional lymph node. Pathol Int 1996;46:531–7. 7. Goette DK, Odom RB, Fitzwater JE, Jr. Diffuse cutaneous reticulohistiocytosis. Arch Dermatol 1982;118:173–6. 8. Favara BE, Feller AC, Pauli M, et al. Contemporary classification of histiocytic disorders. The WHO Committee On Histiocytic/ Reticulum Cell Proliferations. Reclassification Working Group of the Histiocyte Society. Med Pediatr Oncol 1997;29:157–66. 9. Woo KI, Harris GJ. Eosinophilic granuloma of the orbit: understanding the paradox of aggressive destruction responsive to minimal intervention. Ophthal Plast Reconstr Surg 2003;19:429–39. 10. Hoffmann EM, Müller-Forell W, Pitz S, et al. Erdheim-Chester disease: a case report. Graefes Arch Clin Exp Ophthalmol 2004;242:803–7. 11. Alexiev BA, Staats PN. Erdheim-Chester disease with prominent pericardial effusion: cytologic findings and review of the literature. Diagn Cytopathol. [published online ahead of print February 28, 2013] doi: 10.1002/dc.22957. 12. Strehl JD, Stachel KD, Hartmann A, et al. Juvenile xanthogranuloma developing after treatment of Langerhans cell histiocytosis: case report and literature review. Int J Clin Exp Pathol 2012;5:720–5. 13. Pileri SA, Grogan TM, Harris NL, et al. Tumours of histiocytes and accessory dendritic cells: an immunohistochemical approach to classification from the International Lymphoma Study Group based on 61 cases. Histopathology 2002;41:1–29.
Recurrent Orbital Adult-Type Fibrosarcoma in a 3-Year-Old Girl Rehan M. Hussain, M.D.*†, Benjamin P. Erickson, M.D.*, Andrew E. Rosenberg, M.D.‡, Sander R. Dubovy, M.D.*†, and Thomas E. Johnson, M.D.* Abstract: A 3-year-old Filipino girl presented with progressive left-sided ptosis and proptosis after resection of a superomedial orbital tumor 2.5 years ago. She had been followed with serial MRI, which demonstrated interval growth of a recurrent lesion. Repeat resection was undertaken via an eyelid-splitting anterior orbitotomy. The patient’s pediatric oncologist and sarcoma specialist did not recommend adjuvant chemotherapy, and the family declined proton radiotherapy. The patient will continue to be monitored with serial imaging. Histopathology, immunohistochemistry, and reverse transcriptase polymerase chain reaction were most consistent with a diagnosis of adult-type fibrosarcoma. This is the first reported case of adult-type fibrosarcoma presenting in the orbit of a child. Fibrosarcoma is a fibroblast-derived tumor that commonly presents in the extremities, usually in patients in their fourth to sixth decades. It is rarely seen in the orbit, with the largest case series to date only including 5 patients.
underwent partial resection of the mass at that time at an outside institution. She did not receive chemotherapy or radiation therapy and was followed by a pediatric oncologist with serial MRI exams. Her medical history was also notable for hydronephrosis. On examination, the child was able to fixate and follow and did not object to covering of either eye. There was mild left-sided proptosis and ptosis of the left upper eyelid. Extraocular muscle function was difficult to assess due to lack of cooperation. The pupils were round and reactive, with no afferent pupillary defect. The palpebral fissure measurements were 8 and 6 mm in the OD and OS, respectively. The marginal reflex distance 1 (MRD1) measurements were 3 mm in the right eye and 1 mm in the left eye. Levator function and Hertel’s exophthalmometry could not be assessed. The anterior segment and fundus examinations were otherwise unremarkable. A MRI scan performed 3 months prior to presentation showed 2 superior left orbital nodules located between the superior rectus muscle and the levator palpebrae muscle. One nodule was hyperintense (tumor) and the other hypointense (postsurgical scar) on T2-weighted MRI (Fig 1). The tumor had enlarged since her last MRI performed 6 months prior, most recently measuring 11 × 8 mm. The original biopsy demonstrated a hypercellular spindle cell neoplasm containing intersecting long and short fascicles that were focally arranged in cartwheel and herringbone patterns (Fig. 2). There was increased nuclear to cytoplasmic ratio, with up to 5 mitotic figures per high power field (Fig. 3). The tumor was moderately vascular, with foci of hemorrhage and necrosis. Immunohistochemistry showed that the tumor cells stained diffusely and strongly positive for vimentin. There was focal positivity for smooth muscle actin (SMA) and muscle specific actin (MSA), particularly in cells surrounding blood vessels. Stains for CD34, S100, CD99, Pancytokeratin, EMA, desmin, B CL-2, and MyoD1 were predominantly negative in neoplastic cells. Reverse transcription polymerase chain reaction (PCR) was performed on total ribonucleic acid extracted from the paraffin-embedded tumor and was found to be negative for the SYT/synovial sarcoma X fusion transcripts that usually arise
CASE REPORT A 3-year-old Filipino girl presented with progressive left-sided proptosis and ptosis. She had been previously diagnosed with a left orbital tumor at 6 months of age, and she Accepted for publication September 7, 2013. *Bascom Palmer Eye Institute, University of Miami Miller School of Medicine; †Florida Lions Eye Bank; and ‡Department of Pathology, University of Miami Hospital, Miami, Florida, U.S.A. Presented at the Advances in Orbital Oncology and Oculofacial Plastic Surgery, M.D. Anderson Hospital, Houston, Texas, on September 2, 2013. This was project was funded by the Florida Lions Eye Bank and Ocular Pathology Laboratory. The authors have no financial or conflicts of interest to disclose. Address correspondence and reprint requests to Thomas E. Johnson, M.D., 900 NW 17th St., Miami, FL 33136. E-mail: [email protected]
e16
FIG. 1. T2-weighted MRI shows a hyperintense nodule in the superior left orbit between the superior rectus muscle and the levator palpebrae muscle.
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
Ophthal Plast Reconstr Surg, Vol. 31, No. 1, 2015
Case Reports
FIG. 2. Histology of resected tumor: neoplastic spindle cells are arranged in a herringbone pattern. (Hematoxylin-eosin, ×100).
FIG. 4. Postoperative T2-weighted MRI shows a very small hyperintense nodule in the area of the previous resection.
FIG. 3. Some tumor cells were atypical and contained large hyperchromatic nuclei, as marked by the arrow (Hematoxylineosin, ×400).
from the t(X;18) translocation (seen in synovial sarcoma). PCR was also negative for the ETS variant 6/neurotrophic tyrosine kinase receptor, type 3 chimeric transcripts that usually result from the t(12;15) translocation that is seen in infantile fibrosarcoma. Based on the morphologic and immunohistochemical findings, the tumor was classified as an “Adult-type fibrosarcoma, intermediate grade (grade II), with myxoid features.” The patient underwent repeat tumor resection via an eyelid-splitting anterior orbitotomy. The surgeons felt confident that the entire gross tumor was resected, although microscopic residua may have been left behind as the tumor was dissected off the adjacent levator and superior rectus muscles (Fig. 4). The histology of the resected tumor was identical to that seen in the initial biopsy (Fig. 2). She has not received adjuvant chemotherapy, per the recommendation of a consulting sarcoma specialist, and her own pediatric oncologist. She was referred for proton beam radiotherapy, but the family declined treatment due to the possible side effects of treatment and the relatively slow growth of the tumor over the past 2.5 years. She will continue to be followed with serial imaging.
DISCUSSION Fibrosarcomas are neoplasms composed of malignant spindle-shaped fibroblasts that are arranged in a classic
herringbone pattern or interlacing fascicles and produce collagen. They may contain a myxoid stroma with thin-walled vessels, as in the case we present. Fibrosarcoma can be divided in either adult-type or infantile-type. Despite the young age of the presented patient, we believe she had an adult-type fibrosarcoma, as reverse transcription PCR confirmed the absence of ETS variant 6 gene rearrangement, characteristic of infantile fibrosarcoma. To the best of the authors’ knowledge, this is the first reported case of adult-type fibrosarcoma presenting in the orbit of a young child. Adult-type fibrosarcoma most often presents in patients aged 30 to 55 years old.1 It is important to differentiate fibrosarcoma of the orbit from rhabdomyosarcoma, the most common primary pediatric orbital malignancy. The tumor cells in both embryonal and alveolar rhabdomyosarcoma often show greater cytologic atypia and by immunohistochemistry express desmin, myogenin, and MyoD1.2 Fibrosarcoma is differentiated from fibromatosis by the presence of increased cellularity, cytologic atypia, necrosis, and the herringbone pattern. Other spindle cell tumors to be included in the differential diagnosis include benign fibrous histiocytoma, nodular fasciitis, malignant peripheral nerve sheath tumor, and synovial sarcoma.1 The pathologic diagnosis of “fibrosarcoma” presents a diagnostic challenge, as many tumors thought to be fibrosarcoma in the past may actually represent other soft tissue sarcomas; diagnostic advances in immunohistochemistry and cytogenetics have contributed to the reclassification of fibrosarcoma in numerous variant forms, thus making it difficult to compare the results of older published studies with more recent ones.3 Fibrosarcoma has no characteristic symptoms, and most patients present with a slowly growing solitary palpable mass ranging from 3 to 8 cm in greatest dimension. Telangiectasia, surface ulceration, and bleeding may be present in more superficially located cases.1,4 Adult-type fibrosarcoma is an uncommon tumor that accounts for
