We present here the successful use of cytology specimens obtained from CP-EBUS-TBNA in the diagnosis of pulmonary metastatic chondrosarcoma in a patient with Maffucci syndrome. Maffucci syndrome is a rare, nonhereditary mesodermal dysplasia usually associated with mutations in the IDH1 or IDH2.1 The manifestations occur mostly in childhood and early puberty, with the appearance of benign enchondromas with asymmetric distribution in the phalanges and long bones, as well as diffuse hemangiomas.5 The unilateral distribution of enchondromas is usually known as “Ollier disease.”4
Malignant transformation of endrochondromas into chondrosarcoma can occur and affects 17% to 30% of the patients.6–8 Vascular neoplasms such as hemangiosarcomas and lymphangiosarcomas have also been described.6,9 In our patient who presented with a pulmonary nodule, it was necessary to differentiate between pulmonary metastatic chondrosarcoma, primary lung tumor, benign inflammatory process, and lymphatic lesion, due to the different therapeutic and prognostic implications. Despite scant data on pulmonary resection of the metastatic chondrosarcomas, studies on pulmonary metastasectomy have proven survival benefit in patients with sarcomas.10 Thoracic chondrosarcoma usually occur as metastases from a distant site, and very rarely as a primary pulmonary chondrosarcoma.11 In contrast, if this were primary lung cancer she would likely require an anatomic resection. Pulmonary lymphangiomas are extremely rare, with only a few case reports in the literature. Although it is considered a benign vascular malformation, surgical resection is still recommended by some due partly to the development of respiratory symptoms, and partly to the unclear risk for malignant transformation.12 Others have also proposed close observation if the tumor does not cause symptoms and compression of vital structures.13
CP-EBUS-TBNA has become an established tool for diagnosing and staging non–small cell lung cancer, with a sensitivity and specificity reported to be up to 93% and 100%, respectively.14,15 Recently, this minimally invasive modality has been increasingly used for the sampling of pulmonary and mediastinal masses in both malignant and benign diseases, as well as extrathoracic malignancies, where CP-EBUS-TBNA had a sensitivity of 85% to detect pulmonary metastasis and prevented invasive surgical procedures in 61%.16 Most cases of extrathoracic malignancy were carcinomas of the head and neck, colon, breast, kidney, prostate, esophagus, thyroid, and melanomas.17,18 Analysis of samples from rare tumors such as sarcomas by CP-EBUS-TBNA was thought to be more challenging as cytology may be inadequate and histologic confirmation is often required. The successful diagnosis of a case of spinal chondrosarcoma in a patient with hereditary multiple exostoses by CP-EBUS-TBNA has been reported previously.2 In that particular case, cytological studies revealed atypical cells with nuclear body on Papanicolaou stain; it was the tissue sample obtained by CP-EBUS-TBNA showing tumor cells positive for Ki67 antibody that confirmed the diagnosis of chondrosarcoma. This was also the first report of attempting genetic studies on the obtained samples, but the mutation of EXT1 gene of hereditary multiple exostoses was not detected.
Interestingly in our case, the location of the lesion was the superior segment of the left lower lobe, an area that is typically not accessible by CP-EBUS, due to the size of the airway. With gentle manipulation of the bronchoscope, the probe was introduced into the segmental airway allowing the lesion to be visualized, characterized, and sampled. The diagnosis of chondrosarcoma was made from the cytology specimen from a 21-G needle without the need for further tissue sampling. This is contrary to the experiences published in the literature where larger histologic specimens are recommended to make the diagnosis of sarcomas.18,19
Taken together, the successful diagnosis of such rare tumors as sarcomas by CP-EBUS-TBNA modality indicates the growing importance of this minimally invasive technology.
1. Amary MF, Damato S, Halai D, et al..Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.Nat Genet.2011;43:1262–1265.
2. Nakajima T, Yasufuku K, Suzuki M, et al..Histological diagnosis of spinal chondrosarcoma by endobronchial ultrasound-guided transbronchial needle aspiration.Respirology.2007;12:308–310.
3. de Almeida JR, Pagedar NA, Keshavjee S.Chondrosarcoma of the trachea in a patient with Maffucci syndrome.J Otolaryngol Head Neck Surg.2010;39:E12–E15.
4. Wagnetz U, Patsios D, Darling G.Tracheal chondrosarcoma—a rare complication in Maffucci syndrome.Br J Radiol.2009;82:e178–e181.
5. Faik A, Allali F, El Hassani S.Maffucci’s syndrome: a case report.Clin Rheumatol.2006;25:88–91.
6. Auyeung J, Mohanty K, Tayton K.Maffucci lymphangioma syndrome: an unusual variant of Ollier’s disease, a case report and a review of the literature.J Pediatr Orthop Part B.2003;12:147–150.
7. Albregts AE, Rapini RP.Malignancy in Maffucci’s syndrome.Dermatol Clin.1995;13:73–78.
8. Kaplan RP, Wang JT, Amron DM.Maffucci’s syndrome: two case reports with a literature review.J Am Acad Dermatol.1993;29:894–899.
9. Fernandez-Aguilar S, Fayt I, Noel JC.Spindle cell vulvar hemangiomatosis associated with enchondromatosis: a rare variant of Maffucci’s syndrome.Int J Gynecol Pathol.2004;23:68–70.
10. Pastorino U, Buyse M, Friedel G, et al..Long-term results of lung metastasectomy: prognostic analyses based on 5206 cases. The International Registry of Lung Metastases.J Thorac Cardiovasc Surg.1997;113:37–49.
11. Hayashi T, Tsuda N, Iseki M.Primary chondrosarcoma of the lung. A clinicopathologic study.Cancer.1993;72:69–74.
12. Limmer S, Krokowski M, Kujath P.Pulmonary lymphangioma.Ann Thorac Surg.2008;85:336–339.
13. Benninghoff MG, Todd WU, Bascom R.Incidental pleural-based pulmonary lymphangioma.J Am Osteopath Assoc.2008;108:525–528.
14. Gu P, Zhao YZ, Jiang LY.Endobronchial ultrasound-guided transbronchial needle aspiration for staging of lung cancer: a systematic review and meta-analysis.Eur J Cancer.2009;45:1389–1396.
15. Adams K, Shah PL, Edmonds L.Test performance of endobronchial ultrasound and transbronchial needle aspiration biopsy for mediastinal staging in patients with lung cancer: systematic review and meta-analysis.Thorax.2009;64:757–762.
16. Tournoy KG, Govaerts E, Malfait T.Endobronchial ultrasound-guided transbronchial needle biopsy for M1 staging of extrathoracic malignancies.Ann Oncol.2011;22:127–131.
17. Chow A, Oki M, Saka H.Metastatic mediastinal lymph node from an unidentified primary papillary thyroid carcinoma diagnosed by endobronchial ultrasound-guided transbronchial needle aspiration.Intern Med.2009;48:1293–1296.
18. Noh KW, Wallace MB, Pascual JM.Fine-needle aspiration of peritumoral lymph nodes in esophageal cancer with endobronchial ultrasound.Endoscopy.2006;38:953–963.
19. Monaco SE, Schuchert MJ, Khalbuss WE.Diagnostic difficulties and pitfalls in rapid on-site evaluation of endobronchial ultrasound guided fine needle aspiration.Cytojournal.2010;7:9.