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.
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http://dx.doi.org/10.1097/LBR.0000000000000069 | DOI Listing |
Hum Pathol
January 2025
Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address:
Introduction: Extraskeletal myxoid chondrosarcoma (EMC) is a rare sarcoma defined by NR4A3 gene rearrangements, typically featuring uniform cells with eosinophilic cytoplasm and mild atypia, arranged in cords or clusters within a chondromyxoid stroma. A cellular variant, characterized by increased cellular density and a solid growth pattern, has been recognized.
Methods: We encountered three cases of round cell sarcomas, diagnosed as EMC based on NR4A3 or NR4A2 rearrangements.
Ann Endocrinol (Paris)
January 2025
Service d'Endocrinologie, Diabétologie, Métabolisme, Nutrition; Hôpital Huriez, CHU Lille; Inserm U1190, Institut Génomique Européen pour le Diabète, Université de Lille, F-59000 Lille, France. Electronic address:
The differential diagnosis of primary hyperparathyroidism can be considered clinically, biologically and radiologically. Clinically, primary hyperparathyroidism should be suspected in case of diffuse pain, renal lithiasis, osteoporosis, repeated fracture, cognitive or psychiatric disorder, or disturbance of consciousness. Nevertheless, the differential diagnosis of primary hyperparathyroidism is mainly biological, particularly in atypical forms, which must be differentiated from hypercalcemia with hypocalciuria or non- elevated PTH on the one hand, and from normo-calcemia with elevated PTH, hypophosphatemia or hypercalciuria on the other.
View Article and Find Full Text PDFGlobal Spine J
January 2025
Combined Neurosurgical and Orthopedic Spine Program, Department of Orthopedics Surgery, University of British Columbia, Vancouver, BC, Canada.
Study Design: Narrative review.
Objectives: This article aims to provide a narrative review of the current state of research for liquid biopsy in spinal tumors and to discuss the potential application of liquid biopsy in the clinical management of patients with spinal tumors.
Methods: A comprehensive review of the literature was performed using PubMed, Google Scholar, Medline, Embase and Cochrane databases, and the review was limited to articles of English language.
Ann Thorac Surg Short Rep
December 2024
Department of General Thoracic Surgery, Juntendo University School of Medicine, Tokyo, Japan.
Sternal chondrosarcoma is a rare malignant condition. Although surgical resection is crucial, the reconstruction of sternal defects is challenging. A 64-year-old male patient with a history of 2 separate sternal tumor resections received a diagnosis of sternal chondrosarcoma recurrence.
View Article and Find Full Text PDFKardiochir Torakochirurgia Pol
December 2024
Endoscopic and Minimally Invasive Surgery Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Introduction: Chest wall tumors, though rare, represent a significant subset of thoracic neoplasms, accounting for approximately 5% of thoracic and 2% of overall body neoplasms. Their management has historically posed challenges for surgeons, often leading to misdiagnosis, incomplete resection, and high complication rates. An individualized surgical approach, tailored to the specific characteristics of the disease, is crucial for optimizing outcomes.
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