Orbit, Early Online, 1–3, 2014 ! Informa Healthcare USA, Inc. ISSN: 0167-6830 print / 1744-5108 online DOI: 10.3109/01676830.2014.902480
C ASE REPORT
Adult Rhabdomyosarcoma of the Maxillary Sinus with Orbital Extension Deep Parikh1, Jordan Spindle1, Craig Linden2, Svetoslav Bardarov3, and Roman Shinder1 Department of Ophthalmology and 2Department of Radiology, SUNY Downstate Medical Center, Brooklyn, New York, USA, and 3Department of Pathology, Long Island College Hospital at SUNY Downstate Medical Center, Brooklyn, New York, USA
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1
ABSTRACT A 40-year-old male presented with 2 weeks of left facial pain, nasal congestion, dysphonia, and epistaxis along with left-sided epiphora. CT showed a large infiltrative mass centered in the left maxillary sinus with extension into the left orbit, bilateral paranasal sinuses, nasal cavity, and bilateral enlarged cervical lymph nodes. Biopsy results confirmed adult alveolar rhabdomyosarcoma (RMS). Systemic workup confirmed bilateral cervical lymph node metastasis. Currently the patient is undergoing chemotherapy. We describe a rare case of adult paranasal sinus RMS with orbital invasion. Keywords: Adult, maxillary sinus, orbit, rhabdomyosarcoma, tumor
CASE REPORT
Rhabdomyosarcoma (RMS) arises from immature mesenchymal cells that are committed to differentiate into skeletal muscle.1 RMS of the orbit is the most common primary orbital malignancy in childhood, with a mean age at diagnosis of 6–8 years.2 Patients typically present with a rapidly growing, painless orbital mass that may invade contiguous structures.2 RMS is uncommon in adults.1 There are few prior reported cases of adult RMS of the maxillary sinus with most patients diagnosed before 30 years of age.1 In children with orbital RMS, there is a reported 10year survival rate of 87%,2 but there has been limited treatment success for adult RMS.1 Head and neck cases account for 18% of adult RMS,3 with a 5-year survival rate of 8% or less.1 We herein present a case of a 40-year-old male with an alveolar RMS of the maxillary sinus with secondary orbital invasion. This study was reviewed and approved by the Institutional Review Board of SUNY Downstate Medical Center. The research adhered to the tenets of the Declaration of Helsinki, and the Health Insurance Portability and Accountability Act.
A 40-year-old African American male presented with a 2-week history of left facial pain, nasal congestion, dysphonia, and epistaxis. He also reported left-sided epiphora but denied any changes in visual function. Pertinent examination findings included painless fullness overlying the left maxilla, bilateral cervical lymphadenopathy, and binocular diplopia in extreme right and upgaze. The remainder of his ophthalmic exam was benign including visual acuity, color vision, confrontational visual fields, pupillary light response, Hertel exophthalmometry, and sensation in the distribution of the maxillary division of the trigeminal nerve. Endoscopic nasal examination by otolaryngology disclosed a large soft tissue mass in the nasal cavity concerning for malignancy. Contrast enhanced computed tomography of the brain, orbit, and sinuses disclosed a large infiltrative mass centered in the left maxillary sinus with extension to the nasal cavity, bilateral ethmoid and frontal sinuses, the left sphenoid sinus, the medial and
Received 19 January 2014; Revised 11 February 2014; Accepted 3 March 2014; Published online 14 May 2014 Correspondence: Dr. Roman Shinder, Department of Ophthalmology, SUNY Downstate Medical Center, 541 Clarkson Ave, E Bldg, 8th Fl, Suite C, Brooklyn, NY 11203, USA, Tel: 516-587-9357, Fax: 718-245-5332, E-mail: [email protected]
1
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2
D. Parikh et al.
FIGURE 1. Axial orbital CT with contrast showing an infiltrating left maxillary sinus mass with extension to the nasal cavity (A), bilateral ethmoid and left sphenoid sinuses, and medial extraconal left orbit (B). Coronal CT showing invasion of the left ethmoid sinus, extraconal orbit, and cribiform plate (C).
inferior left extraconal orbit, as well as dehiscence of the cribiform plate and medial aspect of each fovea ethmoidalis (Figure 1). Enlarged cervical lymph nodes were noted bilaterally. Endoscopic biopsy of the maxillary sinus mass revealed a small round blue cell tumor with positive Desmin, Myogenin, and CD56 staining confirming Rhabdomyosarcoma favoring alveolar subtype (Figure 2). Systemic workup with full body positron emission tomography (PET) was positive for bilateral cervical lymph node metastasis. Currently the patient is undergoing chemotherapy with vincristine, dactinomycin, and cyclophosphamide. Following induction chemotherapy, the patient is planned to undergo a repeat PET scan to assess residual disease and evaluate for possible surgical resection and/or radiation therapy.
COMMENT Paranasal sinus RMS is a rare, aggressive malignancy that most commonly metastasizes to the cervical lymph nodes, lungs, and bones.4,5 The alveolar subtype rapidly develops distant metastasis and has the worst prognosis.3,4,5 Due to its rarity, there is no treatment protocol for adult RMS and established pediatric treatment protocols are often extrapolated and utilized in adult
patients. Bagdonaite et al. described a 52-year-old patient with non-metastatic alveolar RMS of the paranasal sinuses extending to the orbit that received chemoradiotherapy with vincristine, dactinomycin, ifosfamide, doxorubicin, cyclophosphamide and vinorelbine and was free of disease at 2-year followup.3 Gerber et al. similarly showed a cohort of 148 patients with non-metastatic RMS of all anatomic sites diagnosed at age 16 or older treated using pediatric RMS protocols had significantly improved survival rates (5-year 54%) compared to nonprotocol patients (5-year 36%).6 The improved survival was found for all histologic subtypes including alveolar.6 Adult maxillary RMS that is metastatic at presentation has a much poorer prognosis. Moon et al. reported a 48-year-old patient with alveolar RMS of the ethmoid sinus with extension into the orbit and cervical lymph node involvement, treated with surgery and chemoradiation, but expired after 7 months due to progressive metastasis to the spine.5 Muto et al. described a 69-year-old patient with alveolar sinus RMS with lymph node and bone metastasis treated with vincristine, dactinomycin, and cyclophosphamide but expired after 12 months due to spread of metastatic bone disease.7 There is thus a need for new, targeted therapies for RMS, especially in adults. van Gaal et al. recently proposed anaplastic lymphoma kinase (ALK) and insulin-like growth factor-1 receptor (IGF-1R) as Orbit
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Adult Rhabdomyosarcoma of the Maxillary Sinus
3
FIGURE 2. Left maxillary sinus biopsy showing a small, round blue cell tumor with numerous mitotic figures, necrosis and individual cell apoptosis (A, H&E, 40), positive staining for Desmin (B, 40), and Myogenin (C, Myf-4, 40).
potential targets.8 Then 68% of alveolar RMS cases (median age 15, range 0–72 years) were found to have co-expression of ALK and IGF-1R.8 Simultaneous treatment with ALK inhibitor NVP-TAE684 (Novartis) and IGF-1R antibody R1507 (Roche) in alveolar RMS cell lines showed promising synergistic cytotoxic effects.8 Future clinical studies are needed to investigate the efficacy, safety, and success of such medications in human subjects. In conclusion, although rare, given the aggressive nature and poor prognosis of this tumor, RMS should be considered on the differential diagnosis of an orbital or sinus mass in a patient of any age so that timely diagnosis and treatment can be implemented.
FUNDING This research was supported in part by Research to Prevent Blindness, New York, New York, USA.
DECLARATION OF INTEREST The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper. !
2014 Informa Healthcare USA, Inc.
REFERENCES 1. Wu TH, Huang JS, Wang HM, et al. Long-term survivors of adult rhabdomyosarcoma of maxillary sinus following multimodal therapy: case reports and literature reviews. Chang Gung Med J 2010;33(4):466–471. 2. Rao AA, Naheedy JH, Chen JY, et al. A clinical update and radiologic review of pediatric orbital and ocular tumors. J Oncol 2013;2013:975908. doi: 10.1155/2013/975908. Epub 2013 Mar 12. 3. Bagdonaite L, Jeeva I, Chang BY, et al. Multidisciplinary management of adult orbital rhabdomyosarcoma. Orbit 2013;32(3):208–210. 4. Kelly A, Moran M, Primrose W. Alveolar ethmoidal rhabdomyosarcoma in a young adult male. BMJ Case Rep 2013; 2013 Mar 8. pii: bcr2013008737. doi: 10.1136/bcr-2013008737. 5. Moon HS, Kwon SW, Lee JH. A case of alveolar rhabdomyosarcoma of the ethmoid sinus invading the orbit in an adult. Kor J Ophthalmol 2006;20(1):70–75. 6. Gerber NK, Wexler LH, Singer S, et al. Adult rhabdomyosarcoma survival improved with treatment on multimodality protocols. Int J Radiat Oncol Biol Phys 2013;86(1):58–63. 7. Muto E, Shioyama Y, Nakamura K, et al. Adult rhabdomyosarcoma in the nasal and paranasal sinuses showing complete local response to a combination of chemotherapy and radiotherapy using 3D-CRT and IMRT. Fukuoka Igaku Zasshi 2005;96(10):363–369. 8. van Gaal JC, Roeffen MH, Flucke UE, et al. Simultaneous targeting of insulin-like growth factor-1 receptor and anaplastic lymphoma kinase in embryonal and alveolar rhabdomyosarcoma: a rational choice. Eur J Cancer 2013; 49(16):3462–3470.
C ASE REPORT
Adult Rhabdomyosarcoma of the Maxillary Sinus with Orbital Extension Deep Parikh1, Jordan Spindle1, Craig Linden2, Svetoslav Bardarov3, and Roman Shinder1 Department of Ophthalmology and 2Department of Radiology, SUNY Downstate Medical Center, Brooklyn, New York, USA, and 3Department of Pathology, Long Island College Hospital at SUNY Downstate Medical Center, Brooklyn, New York, USA
Orbit Downloaded from informahealthcare.com by University of Utah on 06/19/14 For personal use only.
1
ABSTRACT A 40-year-old male presented with 2 weeks of left facial pain, nasal congestion, dysphonia, and epistaxis along with left-sided epiphora. CT showed a large infiltrative mass centered in the left maxillary sinus with extension into the left orbit, bilateral paranasal sinuses, nasal cavity, and bilateral enlarged cervical lymph nodes. Biopsy results confirmed adult alveolar rhabdomyosarcoma (RMS). Systemic workup confirmed bilateral cervical lymph node metastasis. Currently the patient is undergoing chemotherapy. We describe a rare case of adult paranasal sinus RMS with orbital invasion. Keywords: Adult, maxillary sinus, orbit, rhabdomyosarcoma, tumor
CASE REPORT
Rhabdomyosarcoma (RMS) arises from immature mesenchymal cells that are committed to differentiate into skeletal muscle.1 RMS of the orbit is the most common primary orbital malignancy in childhood, with a mean age at diagnosis of 6–8 years.2 Patients typically present with a rapidly growing, painless orbital mass that may invade contiguous structures.2 RMS is uncommon in adults.1 There are few prior reported cases of adult RMS of the maxillary sinus with most patients diagnosed before 30 years of age.1 In children with orbital RMS, there is a reported 10year survival rate of 87%,2 but there has been limited treatment success for adult RMS.1 Head and neck cases account for 18% of adult RMS,3 with a 5-year survival rate of 8% or less.1 We herein present a case of a 40-year-old male with an alveolar RMS of the maxillary sinus with secondary orbital invasion. This study was reviewed and approved by the Institutional Review Board of SUNY Downstate Medical Center. The research adhered to the tenets of the Declaration of Helsinki, and the Health Insurance Portability and Accountability Act.
A 40-year-old African American male presented with a 2-week history of left facial pain, nasal congestion, dysphonia, and epistaxis. He also reported left-sided epiphora but denied any changes in visual function. Pertinent examination findings included painless fullness overlying the left maxilla, bilateral cervical lymphadenopathy, and binocular diplopia in extreme right and upgaze. The remainder of his ophthalmic exam was benign including visual acuity, color vision, confrontational visual fields, pupillary light response, Hertel exophthalmometry, and sensation in the distribution of the maxillary division of the trigeminal nerve. Endoscopic nasal examination by otolaryngology disclosed a large soft tissue mass in the nasal cavity concerning for malignancy. Contrast enhanced computed tomography of the brain, orbit, and sinuses disclosed a large infiltrative mass centered in the left maxillary sinus with extension to the nasal cavity, bilateral ethmoid and frontal sinuses, the left sphenoid sinus, the medial and
Received 19 January 2014; Revised 11 February 2014; Accepted 3 March 2014; Published online 14 May 2014 Correspondence: Dr. Roman Shinder, Department of Ophthalmology, SUNY Downstate Medical Center, 541 Clarkson Ave, E Bldg, 8th Fl, Suite C, Brooklyn, NY 11203, USA, Tel: 516-587-9357, Fax: 718-245-5332, E-mail: [email protected]
1
Orbit Downloaded from informahealthcare.com by University of Utah on 06/19/14 For personal use only.
2
D. Parikh et al.
FIGURE 1. Axial orbital CT with contrast showing an infiltrating left maxillary sinus mass with extension to the nasal cavity (A), bilateral ethmoid and left sphenoid sinuses, and medial extraconal left orbit (B). Coronal CT showing invasion of the left ethmoid sinus, extraconal orbit, and cribiform plate (C).
inferior left extraconal orbit, as well as dehiscence of the cribiform plate and medial aspect of each fovea ethmoidalis (Figure 1). Enlarged cervical lymph nodes were noted bilaterally. Endoscopic biopsy of the maxillary sinus mass revealed a small round blue cell tumor with positive Desmin, Myogenin, and CD56 staining confirming Rhabdomyosarcoma favoring alveolar subtype (Figure 2). Systemic workup with full body positron emission tomography (PET) was positive for bilateral cervical lymph node metastasis. Currently the patient is undergoing chemotherapy with vincristine, dactinomycin, and cyclophosphamide. Following induction chemotherapy, the patient is planned to undergo a repeat PET scan to assess residual disease and evaluate for possible surgical resection and/or radiation therapy.
COMMENT Paranasal sinus RMS is a rare, aggressive malignancy that most commonly metastasizes to the cervical lymph nodes, lungs, and bones.4,5 The alveolar subtype rapidly develops distant metastasis and has the worst prognosis.3,4,5 Due to its rarity, there is no treatment protocol for adult RMS and established pediatric treatment protocols are often extrapolated and utilized in adult
patients. Bagdonaite et al. described a 52-year-old patient with non-metastatic alveolar RMS of the paranasal sinuses extending to the orbit that received chemoradiotherapy with vincristine, dactinomycin, ifosfamide, doxorubicin, cyclophosphamide and vinorelbine and was free of disease at 2-year followup.3 Gerber et al. similarly showed a cohort of 148 patients with non-metastatic RMS of all anatomic sites diagnosed at age 16 or older treated using pediatric RMS protocols had significantly improved survival rates (5-year 54%) compared to nonprotocol patients (5-year 36%).6 The improved survival was found for all histologic subtypes including alveolar.6 Adult maxillary RMS that is metastatic at presentation has a much poorer prognosis. Moon et al. reported a 48-year-old patient with alveolar RMS of the ethmoid sinus with extension into the orbit and cervical lymph node involvement, treated with surgery and chemoradiation, but expired after 7 months due to progressive metastasis to the spine.5 Muto et al. described a 69-year-old patient with alveolar sinus RMS with lymph node and bone metastasis treated with vincristine, dactinomycin, and cyclophosphamide but expired after 12 months due to spread of metastatic bone disease.7 There is thus a need for new, targeted therapies for RMS, especially in adults. van Gaal et al. recently proposed anaplastic lymphoma kinase (ALK) and insulin-like growth factor-1 receptor (IGF-1R) as Orbit
Orbit Downloaded from informahealthcare.com by University of Utah on 06/19/14 For personal use only.
Adult Rhabdomyosarcoma of the Maxillary Sinus
3
FIGURE 2. Left maxillary sinus biopsy showing a small, round blue cell tumor with numerous mitotic figures, necrosis and individual cell apoptosis (A, H&E, 40), positive staining for Desmin (B, 40), and Myogenin (C, Myf-4, 40).
potential targets.8 Then 68% of alveolar RMS cases (median age 15, range 0–72 years) were found to have co-expression of ALK and IGF-1R.8 Simultaneous treatment with ALK inhibitor NVP-TAE684 (Novartis) and IGF-1R antibody R1507 (Roche) in alveolar RMS cell lines showed promising synergistic cytotoxic effects.8 Future clinical studies are needed to investigate the efficacy, safety, and success of such medications in human subjects. In conclusion, although rare, given the aggressive nature and poor prognosis of this tumor, RMS should be considered on the differential diagnosis of an orbital or sinus mass in a patient of any age so that timely diagnosis and treatment can be implemented.
FUNDING This research was supported in part by Research to Prevent Blindness, New York, New York, USA.
DECLARATION OF INTEREST The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper. !
2014 Informa Healthcare USA, Inc.
REFERENCES 1. Wu TH, Huang JS, Wang HM, et al. Long-term survivors of adult rhabdomyosarcoma of maxillary sinus following multimodal therapy: case reports and literature reviews. Chang Gung Med J 2010;33(4):466–471. 2. Rao AA, Naheedy JH, Chen JY, et al. A clinical update and radiologic review of pediatric orbital and ocular tumors. J Oncol 2013;2013:975908. doi: 10.1155/2013/975908. Epub 2013 Mar 12. 3. Bagdonaite L, Jeeva I, Chang BY, et al. Multidisciplinary management of adult orbital rhabdomyosarcoma. Orbit 2013;32(3):208–210. 4. Kelly A, Moran M, Primrose W. Alveolar ethmoidal rhabdomyosarcoma in a young adult male. BMJ Case Rep 2013; 2013 Mar 8. pii: bcr2013008737. doi: 10.1136/bcr-2013008737. 5. Moon HS, Kwon SW, Lee JH. A case of alveolar rhabdomyosarcoma of the ethmoid sinus invading the orbit in an adult. Kor J Ophthalmol 2006;20(1):70–75. 6. Gerber NK, Wexler LH, Singer S, et al. Adult rhabdomyosarcoma survival improved with treatment on multimodality protocols. Int J Radiat Oncol Biol Phys 2013;86(1):58–63. 7. Muto E, Shioyama Y, Nakamura K, et al. Adult rhabdomyosarcoma in the nasal and paranasal sinuses showing complete local response to a combination of chemotherapy and radiotherapy using 3D-CRT and IMRT. Fukuoka Igaku Zasshi 2005;96(10):363–369. 8. van Gaal JC, Roeffen MH, Flucke UE, et al. Simultaneous targeting of insulin-like growth factor-1 receptor and anaplastic lymphoma kinase in embryonal and alveolar rhabdomyosarcoma: a rational choice. Eur J Cancer 2013; 49(16):3462–3470.
