Zachary Corey, Julie C Fanburg-Smith, Cristy N French, Eric A Walker, Harry N Kamerow, Eric L Cochran, Jessica D Smith, Donald J Flemming, Mark D Murphey
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Pseudoendocrine sarcoma: a rare new entity with unique radiologic and pathologic/molecular characteristics.
Pseudoendocrine sarcoma is a rare, recently described intermediate grade sarcoma of uncertain phenotype that most commonly affects the paraspinal location in older patients with a distinctive endocrine/paraganglioma-like morphology and unique CTNNB1 point mutation. While these tumors appear as epithelial or even benign endocrine tumors, these lack markers for such and are highlighted by nuclear expression of beta-catenin. This case is the first among the previously reported only twenty-five cases of this entity, including one original series and a few case reports, to correlate the radiologic imaging with the pathologic features. Furthermore, this case illustrates the oldest-to-date patient with this unique location as a palpable painful chest wall/paraspinal location, with new morphologic observations and, finally, this is only the second case to have this specific CTNNB1 hotspot point mutation for this rare entity.
期刊介绍:
Skeletal Radiology provides a forum for the dissemination of current knowledge and information dealing with disorders of the musculoskeletal system including the spine. While emphasizing the radiological aspects of the many varied skeletal abnormalities, the journal also adopts an interdisciplinary approach, reflecting the membership of the International Skeletal Society. Thus, the anatomical, pathological, physiological, clinical, metabolic and epidemiological aspects of the many entities affecting the skeleton receive appropriate consideration.
This is the Journal of the International Skeletal Society and the Official Journal of the Society of Skeletal Radiology and the Australasian Musculoskelelal Imaging Group.