Orbit, 2014; 33(6): 468–470 ! Informa Healthcare USA, Inc. ISSN: 0167-6830 print / 1744-5108 online DOI: 10.3109/01676830.2014.950295
C ASE REPORT
Adult Alveolar Rhabdomyosarcoma of the Lacrimal Sac James E. Neffendorf1, Laura Bagdonaite1, Hardeep S. Mudhar2, and Andrew R. Pearson1 Department of Ophthalmology, King Edward VII Hospital, Windsor, United Kingdom and 2National Specialist Ophthalmic Pathology Service (NSOPS), Department of Histopathology, Royal Hallamshire Hospital, Sheffield, United Kingdom
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1
ABSTRACT Lacrimal sac tumours are rare, but must be considered in the diagnosis of patients presenting with masses in the medial canthal region. We report a single case of lacrimal sac rhabdomyosarcoma in a 31-year-old man. The patient self-presented to the eye department with a 4-week history of discomfort, epiphora and a medial canthal mass. After no response to 1 week of oral antibiotics for a presumed diagnosis of dacryocystitis and the presence of firm mass extending above the medial canthal tendon, surgical exploration was carried out which revealed a lacrimal sac mass. Histologically this showed an alveolar rhabdomyosarcoma, which was confirmed on immunohistochemistry. After 4 rounds of chemotherapy and 50.4Gy of radical radiotherapy, the patient is well with no signs of further local or distant disease at 11-months follow-up and 20 months following initial diagnosis. To our knowledge, there are no previously reported adult cases of lacrimal sac alveolar rhabdomyosarcoma in the peer-reviewed literature. We want to highlight the unique diagnosis in this case as well as drawing attention to the possibility of malignancy in patients responding poorly to management when an initial diagnosis of dacryocystitis is made in the presence of a medial canthal mass. Keywords: Epiphora, lacrimal sac tumour, rhabdomyosarcoma
Rhabdomyosarcoma (RMS) usually affects children and adolescents and in these groups accounts for between 3% and 7% of all malignancies.1 In adults however, this mesenchymal tumour is rare.2 We present a case of RMS arising from the lacrimal sac in an adult, a site that has not previously been reported.
An initial diagnosis of acute dacryocystitis was made, but since no clinical response was seen with a course of systemic amoxicillin/clavulanic acid after 1 week, he was referred to the oculoplastic clinic for further assessment. Examination showed a firm, non-tender mass centred on the lacrimal sac and extending above the medial canthal tendon, with complete obstruction at the common canaliculus on lacrimal irrigation. There was no regional lymphadenopathy. In view of the possibility of malignancy he was listed for early surgical exploration 2 weeks later. Using an external approach, a firm lacrimal sac mass was found with no evidence of mucocele or infection. Dacryocystectomy and adjacent tissue biopsy was performed. Histology revealed the lacrimal sac wall infiltrated by a neoplasm composed of malignant biphasic small
CASE REPORT A 31-year-old man self-presented to the eye department with a 4-week history of a right medial canthal mass, accompanied by epiphora and discomfort. There was no discharge or blood-staining of the tears, no diplopia and he had no nasal symptoms. He had no past ocular history and was otherwise well.
Received 18 February 2014; Revised 15 May 2014; Accepted 28 July 2014; Published online 10 September 2014 Correspondence: James E. Neffendorf, King Edward VII Hospital, St Leonard Road, Windsor SL4 3DP, United Kingdom, Tel: (+44) 1753 636497. Fax: (+44) 1753 636759. E-mail: [email protected]
468
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Adult Rhabdomyosarcoma of the Lacrimal Sac 469
FIGURE 1. Histological analysis of the lacrimal sac tumour. (A) H&E section showing typical features of alveolar rhabdomyosarcomafibrous septa (asterisk) and centrally discohesive groups of malignant ‘small round blue cells’ (arrows). (B) H&E higher power. Large eosinophilic rhabdomyoblasts (arrow). (C) Desmin-stained rhabdomyoblasts. (D) MyoD1 positivity of tumour cells.
round blue cells and scattered larger eosinophilic cells. Discohesion was exhibited by the neoplasm, creating an alveolar pattern (Figures 1A and B). Immunohistochemistry showed positivity with desmin (Figure 1C) and MyoD1 (Figure 1D) and fluorescence in situ hybridisation (FISH) analysis of 100 interphase nuclei from a section of the tumour showed evidence of FOXO 1 rearrangement in 100% of the tumour cells. This led to a diagnosis of alveolar rhabdomyosarcoma. The excision of the tumour was focally incomplete. There was incomplete excision at the circumferential margin and at the lacrimal duct resection margin, as well as tumour in the superior lacrimal fossa. Staging by the oncologists revealed no metastatic disease and following 4 rounds of IVADo chemotherapy (Ifosfamide, Vincristine, Actinomycin D and Doxorubicin) and 50.4Gy in 28 fractions of radical radiotherapy, there has been no sign of any further local or distant disease after 11 months’ follow-up. This chemotherapy is the current recommended regime for children, adolescents and young adults with soft tissue sarcomas.3
Comment RMS exists in two main pathological forms, embryonal and alveolar, which tend to affect children and !
2014 Informa Healthcare USA, Inc.
adolescents respectively, although significant cross over between age groups does occur. Alveolar rhabdomyosarcoma tends to present in extremities and axial musculature, often arising from the nose, paranasal sinuses and parameningeal regions.4 As far as we are aware, this is the first case of adult alveolar lacrimal sac rhabdomyosarcoma in the peer-reviewed literature. There is one previous report of RMS affecting the lacrimal sac in a child of 11 years of age, which presented in a similar way, although histologically the diagnosis was of embryonal RMS.5 Lacrimal sac tumours are rare, although their exact incidence is unknown. Those reported include primary epithelial tumors (70%), mesenchymal primary tumours (fibrous histiocytoma, fibroma, haemangioma, haemangiopericytoma, angiosarcoma and lipoma – 12%), lymphomas (11%), malignant melanoma (4%) and neural tumours (1%).6 A mass in the lacrimal sac region may also be an extension from a tumour in adjacent structures such as the orbit or ethmoid sinuses. When a lacrimal sac mass is present, the likelihood of malignancy is approximately 72%.7 Depending on the histological diagnosis and timing of identification of the tumour, the mortality rate can be as high as 55% in adults.6,8 Lacrimal sac tumours may present as a mass, in association with blood-stained tears or epistaxis, or may cause lacrimal obstruction and be found during dacryocystorhinostomy. Although the histological
470 J. E. Neffendorf et al. diagnosis of this case appears to be unique, it shares features with other lacrimal sac tumours that provide warning of an underlying malignancy.
DECLARATION OF INTEREST The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
Orbit Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
REFERENCES 1. Perez EA, Kassira N, Cheung MC, et al. Rhabdomyosarcoma in children: a SEER population based study. J Surg Res 2011;170(2):e243–251.
2. Herzog CE. Overview of sarcomas in the adolescent and young adult population. J Pediatr Hematol Oncol 2005;27: 215–218. 3. Dantonello TM, Int-Veen C, Harms D, et al. Cooperative trial CWS-91 for localized soft tissue sarcoma in children, adolescents, and young adults. J Clin Oncol 2009;27(9): 1446–1455. 4. Parham DH, Ellison DA. Rhabdomyosarcomas in Adults and Children: An Update. Arch Pathol Lab Med 2006; 130(10):1454–1465. 5. Burkat CN, Lucarelli MJ. Rhabdomyosarcoma masquerading as acute dacryocystitis. Ophthal Plast Reconstr Surg 2005;21(6):456–458. 6. Parmar DN, Rose GE. Management of lacrimal sac tumours. Eye 2003;17:599–606. 7. Heindl LM, Junemann AG, Kruse FE, Holbach LM. Tumors of the lacrimal drainage system. Orbit 2010; 29(5):298–306. 8. Stefanyszyn MA, Hidayat AA, Pe’er JJ, Flanagan JC. Lacrimal sac tumors. Ophthal Plast Reconstr Surg 1994;10: 169–184.
Orbit
C ASE REPORT
Adult Alveolar Rhabdomyosarcoma of the Lacrimal Sac James E. Neffendorf1, Laura Bagdonaite1, Hardeep S. Mudhar2, and Andrew R. Pearson1 Department of Ophthalmology, King Edward VII Hospital, Windsor, United Kingdom and 2National Specialist Ophthalmic Pathology Service (NSOPS), Department of Histopathology, Royal Hallamshire Hospital, Sheffield, United Kingdom
Orbit Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
1
ABSTRACT Lacrimal sac tumours are rare, but must be considered in the diagnosis of patients presenting with masses in the medial canthal region. We report a single case of lacrimal sac rhabdomyosarcoma in a 31-year-old man. The patient self-presented to the eye department with a 4-week history of discomfort, epiphora and a medial canthal mass. After no response to 1 week of oral antibiotics for a presumed diagnosis of dacryocystitis and the presence of firm mass extending above the medial canthal tendon, surgical exploration was carried out which revealed a lacrimal sac mass. Histologically this showed an alveolar rhabdomyosarcoma, which was confirmed on immunohistochemistry. After 4 rounds of chemotherapy and 50.4Gy of radical radiotherapy, the patient is well with no signs of further local or distant disease at 11-months follow-up and 20 months following initial diagnosis. To our knowledge, there are no previously reported adult cases of lacrimal sac alveolar rhabdomyosarcoma in the peer-reviewed literature. We want to highlight the unique diagnosis in this case as well as drawing attention to the possibility of malignancy in patients responding poorly to management when an initial diagnosis of dacryocystitis is made in the presence of a medial canthal mass. Keywords: Epiphora, lacrimal sac tumour, rhabdomyosarcoma
Rhabdomyosarcoma (RMS) usually affects children and adolescents and in these groups accounts for between 3% and 7% of all malignancies.1 In adults however, this mesenchymal tumour is rare.2 We present a case of RMS arising from the lacrimal sac in an adult, a site that has not previously been reported.
An initial diagnosis of acute dacryocystitis was made, but since no clinical response was seen with a course of systemic amoxicillin/clavulanic acid after 1 week, he was referred to the oculoplastic clinic for further assessment. Examination showed a firm, non-tender mass centred on the lacrimal sac and extending above the medial canthal tendon, with complete obstruction at the common canaliculus on lacrimal irrigation. There was no regional lymphadenopathy. In view of the possibility of malignancy he was listed for early surgical exploration 2 weeks later. Using an external approach, a firm lacrimal sac mass was found with no evidence of mucocele or infection. Dacryocystectomy and adjacent tissue biopsy was performed. Histology revealed the lacrimal sac wall infiltrated by a neoplasm composed of malignant biphasic small
CASE REPORT A 31-year-old man self-presented to the eye department with a 4-week history of a right medial canthal mass, accompanied by epiphora and discomfort. There was no discharge or blood-staining of the tears, no diplopia and he had no nasal symptoms. He had no past ocular history and was otherwise well.
Received 18 February 2014; Revised 15 May 2014; Accepted 28 July 2014; Published online 10 September 2014 Correspondence: James E. Neffendorf, King Edward VII Hospital, St Leonard Road, Windsor SL4 3DP, United Kingdom, Tel: (+44) 1753 636497. Fax: (+44) 1753 636759. E-mail: [email protected]
468
Orbit Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
Adult Rhabdomyosarcoma of the Lacrimal Sac 469
FIGURE 1. Histological analysis of the lacrimal sac tumour. (A) H&E section showing typical features of alveolar rhabdomyosarcomafibrous septa (asterisk) and centrally discohesive groups of malignant ‘small round blue cells’ (arrows). (B) H&E higher power. Large eosinophilic rhabdomyoblasts (arrow). (C) Desmin-stained rhabdomyoblasts. (D) MyoD1 positivity of tumour cells.
round blue cells and scattered larger eosinophilic cells. Discohesion was exhibited by the neoplasm, creating an alveolar pattern (Figures 1A and B). Immunohistochemistry showed positivity with desmin (Figure 1C) and MyoD1 (Figure 1D) and fluorescence in situ hybridisation (FISH) analysis of 100 interphase nuclei from a section of the tumour showed evidence of FOXO 1 rearrangement in 100% of the tumour cells. This led to a diagnosis of alveolar rhabdomyosarcoma. The excision of the tumour was focally incomplete. There was incomplete excision at the circumferential margin and at the lacrimal duct resection margin, as well as tumour in the superior lacrimal fossa. Staging by the oncologists revealed no metastatic disease and following 4 rounds of IVADo chemotherapy (Ifosfamide, Vincristine, Actinomycin D and Doxorubicin) and 50.4Gy in 28 fractions of radical radiotherapy, there has been no sign of any further local or distant disease after 11 months’ follow-up. This chemotherapy is the current recommended regime for children, adolescents and young adults with soft tissue sarcomas.3
Comment RMS exists in two main pathological forms, embryonal and alveolar, which tend to affect children and !
2014 Informa Healthcare USA, Inc.
adolescents respectively, although significant cross over between age groups does occur. Alveolar rhabdomyosarcoma tends to present in extremities and axial musculature, often arising from the nose, paranasal sinuses and parameningeal regions.4 As far as we are aware, this is the first case of adult alveolar lacrimal sac rhabdomyosarcoma in the peer-reviewed literature. There is one previous report of RMS affecting the lacrimal sac in a child of 11 years of age, which presented in a similar way, although histologically the diagnosis was of embryonal RMS.5 Lacrimal sac tumours are rare, although their exact incidence is unknown. Those reported include primary epithelial tumors (70%), mesenchymal primary tumours (fibrous histiocytoma, fibroma, haemangioma, haemangiopericytoma, angiosarcoma and lipoma – 12%), lymphomas (11%), malignant melanoma (4%) and neural tumours (1%).6 A mass in the lacrimal sac region may also be an extension from a tumour in adjacent structures such as the orbit or ethmoid sinuses. When a lacrimal sac mass is present, the likelihood of malignancy is approximately 72%.7 Depending on the histological diagnosis and timing of identification of the tumour, the mortality rate can be as high as 55% in adults.6,8 Lacrimal sac tumours may present as a mass, in association with blood-stained tears or epistaxis, or may cause lacrimal obstruction and be found during dacryocystorhinostomy. Although the histological
470 J. E. Neffendorf et al. diagnosis of this case appears to be unique, it shares features with other lacrimal sac tumours that provide warning of an underlying malignancy.
DECLARATION OF INTEREST The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
Orbit Downloaded from informahealthcare.com by Nyu Medical Center on 05/28/15 For personal use only.
REFERENCES 1. Perez EA, Kassira N, Cheung MC, et al. Rhabdomyosarcoma in children: a SEER population based study. J Surg Res 2011;170(2):e243–251.
2. Herzog CE. Overview of sarcomas in the adolescent and young adult population. J Pediatr Hematol Oncol 2005;27: 215–218. 3. Dantonello TM, Int-Veen C, Harms D, et al. Cooperative trial CWS-91 for localized soft tissue sarcoma in children, adolescents, and young adults. J Clin Oncol 2009;27(9): 1446–1455. 4. Parham DH, Ellison DA. Rhabdomyosarcomas in Adults and Children: An Update. Arch Pathol Lab Med 2006; 130(10):1454–1465. 5. Burkat CN, Lucarelli MJ. Rhabdomyosarcoma masquerading as acute dacryocystitis. Ophthal Plast Reconstr Surg 2005;21(6):456–458. 6. Parmar DN, Rose GE. Management of lacrimal sac tumours. Eye 2003;17:599–606. 7. Heindl LM, Junemann AG, Kruse FE, Holbach LM. Tumors of the lacrimal drainage system. Orbit 2010; 29(5):298–306. 8. Stefanyszyn MA, Hidayat AA, Pe’er JJ, Flanagan JC. Lacrimal sac tumors. Ophthal Plast Reconstr Surg 1994;10: 169–184.
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