Ann Thorac Surg 2009;88:1356-1358. doi:10.1016/j.athoracsur.2009.02.083
© 2009 The Society of Thoracic Surgeons
Case Reports
Primary Pulmonary Rhabdomyosarcoma in an Adult With Neurofibromatosis-1
Jae-Sung Choi, MD, PhDa,
Jong Sun Choi, MD, PhDb,
Eung-Joong Kim, MD, PhDa,*
a Department of Thoracic and Cardiovascular Surgery, Dongguk University Hospital, Goyang, Korea
b Department of Pathology, Dongguk University Hospital, Goyang, Korea
Accepted for publication February 24, 2009.
* Address correspondence to Dr Kim, Department of Thoracic and Cardiovascular Surgery, Dongguk University Hospital, 814, Siksa-Dong, Ilsandong-Gu, Goyang City, Gyeonggi-Do, 411-773, Korea (Email: kimej{at}duih.org).
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Abstract
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Rhabdomyosarcomas arising in various tissues associated with neurofibromatosis type 1 have been sporadically described in children and young adults. We report a unique case of primary pulmonary rhabdomyosarcoma in an adult with neurofibromatosis type 1. A right lower lobectomy was performed. The Intergroup Rhabdomyosarcoma Study IV postsurgical grouping classification was 1A. The patient is scheduled for chemotherapy without adjuvant radiation therapy as per standard pediatric protocol.
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Introduction
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Primary pulmonary rhabdomyosarcoma (RMS) has been sporadically reported in spite of the fact that the lung is devoid of striated muscle. The occurrence of RMS is believed to be associated with neurofibromatosis type 1 (NF1) [1, 2]; however, the diagnosis of pleomorphic RMS in adult NF1 patients is exceedingly rare [3]. The reported locations where juvenile and pleomorphic RMS arises in NF1 patients are the extremities, urinary bladder, orbital space, and other soft tissues. We suggest that the lung parenchyma should be added to the anatomic locations for RMS in NF1 patients based on the case described herein.
A 44-year-old man with known NF1 was referred to the thoracic surgery department with a lung mass, approximately 49 x 47 mm in size in the right lower lobe. Two months earlier in the orthopedic surgery department, he had undergone complete resection of a left periscapular mass that had been rapidly growing and causing back pain. The mass was shown to be a malignant peripheral nerve sheath tumor.
A computed tomographic scan revealed a contrast enhancement in the mass without significant mediastinal lymph node enlargement (Fig 1). A whole-body positron emission tomographic scan indicated a hypermetabolic mass (maximum standardized uptake value = 6.6) in the same location without metastatic lesions; however, the percutaneous needle biopsy was not sufficient to make a cytologic diagnosis. We performed a diagnostic thoracotomy with two putative diagnoses in mind (ie, a primary lung tumor vs pulmonary metastasis of a malignant peripheral nerve sheath tumor). A right lower lobectomy with lymph node dissection was completed uneventfully, and the bronchial resection margin was clear.
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Fig 1. Computed tomographic scan revealed a large mass (49 mm x 47 mm) in the right lower lobe without significant mediastinal lymph node enlargement. Note a contrast enhancement in the mass.
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The tumor was well-circumscribed and spherical (Fig 2). The cut surface of the tumor was grayish-white, soft, and solid. There were focal areas of necrosis and hemorrhage. The microscopic examination revealed that the tumor was a pleomorphic variant of a rhabdomyosarcoma (Fig 3A). A few more differentiated tumor cells showed cross striations. Mitotic figures were frequently observed up to 16 per 10 high-power fields. The immunohistochemical examination revealed positivity for desmins in the tumor cells (Fig 3B).
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Fig 3. (A) Microscopic examination revealed spindle tumor cells arranged in fascicles with some large plump cells. (Hematoxylin and eosin; x400.) (B) Immunohistochemical examination for desmins revealed positivity in the spindle tumor cells. (Immunohistochemistry; x400.)
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The patient was referred to a hemato-oncologist before discharge. Because the Intergroup Rhabdomyosarcoma Study IV post-surgical grouping classification was 1A, chemotherapy (vincristine, dactinomycin, and cyclophosphamide) without adjuvant radiation therapy for primary pulmonary RMS was recommended, according to the standard pediatric protocol. Adjuvant radiotherapy is recommended for periscapular malignant peripheral nerve sheath tumors.
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Comment
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Primary pulmonary RMS in adults is exceedingly rare. Since McDonald and Heather [4] described the first case, 15 adult cases have been reported in the English literature [5, 6]. There are three types of neurofibromatosis: NF1, NF2, and Schwannomatosis. Among them, NF1 is predisposed to developing soft tissue sarcomas, including RMS. Although childhood RMS is believed to be associated with NF1 [2], an association between adult RMS and NF1 has never been reported. A pleomorphic variant of RMS, which is more common in adults than juvenile RMS (ie, alveolar or embryonal), has recently been reported in a young adult with NF1 [3]. The present case is unique in that the pleomorphic RMS arose in the lung and simultaneously in an adult patient with NF1.
The diagnosis of RMS depends on the histologic examination and is based on the characteristic finding of cross striations in the cytoplasm of tumor cells, as in our case. In the event that the tumor is poorly differentiated and this feature is not present, immunohistochemical demonstration of desmins, an intermediate filament found near the Z line in sarcomeres of the skeletal muscle fibers in the cytoplasm would be critical for the diagnosis. Pulmonary RMS is believed to arise by myoblastic differentiation of primitive mesenchymal cells in the lung interstitium or bronchial wall. Because rhabdomyoblastic differentiation of a metastatic sarcoma is possible, it is necessary to search for a primary sarcoma in the body other than the lung tissue before the diagnostic decision is made.
Despite the fact that adult RMS arising in the lung or other parts of the body with NF1 have been treated by intensive combined therapy protocols, in which surgery has been the mainstay [3, 5, 6], the results have been very poor. Indeed, 9 of 15 patients with primary pulmonary RMS died of the disease. This may suggest the need for other treatment approaches, such as radiation therapy, second-look surgery, and other chemotherapeutic options, rather than Intergroup Rhabdomyosarcoma Study IV protocols, which have been widely used in children [5].
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References
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- Reich S, Overberg-Schmidt US, Leenen A, Henze G. Neurofibromatosis 1 associated with embryonal rhabdomyosarcoma of the urinary bladder Pediatr Hematol Oncol 1999;16:263-266.[Medline]
- Yang P, Grufferman S, Khoury MJ, et al. Association of childhood rhabdomyosarcoma with neurofibromatosis type 1 and birth defects Genet Epidemiol 1995;12:467-474.[Medline]
- Demiralp B, Ozdemir MT, Erler K, Basbozkurt M. Type 1 neurofibromatosis and adult extremity sarcoma. A report of two cases. Acta Orthop Belg 2007;73:403-407.[Medline]
- McDonald Jr S, Heather JC. Neoplastic invasion of the pulmonary veins and left auricle J Pathol Bacteriol 1939;48:533-543.
- Gupta A, Sharma MC, Kochupillai V, et al. Primary pulmonary rhabdomyosarcoma in adults: case report and review of literature Clin Lung Cancer 2007;8:389-391.[Medline]
- Comin CE, Santucci M, Novelli L, Dini S. Primary pulmonary rhabdomyosarcoma: report of a case in an adult and review of the literature Ultrastruct Pathol 2001;25:269-273.[Medline]
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Abstract
Introduction
