We report a case of a 52-year-old white woman with Maffucci syndrome, a rare skeletal disorder characterized by multiple cartilage-forming tumors (enchondromas). She was referred for evaluation of an enlarging pulmonary nodule. Her positron emission tomography-computed tomography scan revealed a low-density, tubular lesion in the superior segment of the left lower lobe of the lung. She underwent a convex-probe endobronchial ultrasound (CP-EBUS)-guided transbronchial needle aspiration (TBNA) that confirmed metastatic chondrosarcoma. Although CP-EBUS-TBNA has become an established tool for diagnosing and staging of non–small cell lung cancer, analysis of samples from rare tumors such as sarcomas by cytology alone is often inadequate and histologic confirmation using more invasive procedures is often required. Interestingly in our case, the diagnosis of chondrosarcoma was established from the cytology specimen obtained with a 21-G needle without the need for further tissue sampling. Moreover, the location of the lesion was the superior segment of the left lower lobe, an area typically not accessible by CP-EBUS, due to the size of the airway. Considering together, the successful diagnosis of a rare tumor such as sarcomas by CP-EBUS-TBNA modality indicates the growing importance of this minimally invasive technology.
*Department of Surgery, Beth Israel Deaconess Medical Center, Division of Thoracic Surgery and Interventional Pulmonology, Harvard Medical School
†Department of Pediatrics, Division of Respiratory Diseases, Boston Children’s Hospital, Harvard Medical School
‡Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA
Disclosure: There is no conflict of interest or other disclosures.
Reprints: Adnan Majid, MD, FCCP, Beth Israel Deaconess Medical Center, 185 Pilgrim Road, Deaconess 201, Boston, Ma 02215 (e-mail: firstname.lastname@example.org).
Received June 6, 2013
Accepted March 5, 2014