William Josette, Laskin William, Nayar Ritu, De Frias Denise
Pathology Department, Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, USA.
Diagn Cytopathol. 2012 Aug;40 Suppl 2:E109-13. doi: 10.1002/dc.21647. Epub 2011 Feb 14.
Oncogenic osteomalacia (OO) is a rare paraneoplastic condition in which a bone or soft tissue tumor induces biochemical and clinical signs and symptoms of osteomalacia (or rickets) most often by the production of the phosphaturic protein, fibroblast growth factor-23. Phosphaturic mesenchymal tumor, mixed connective tissue type (PMTMCT) is a rare, histologically distinct tumor that represents the most common cause of OO. As the clinical diagnosis of OO is typically suspected on the basis of clinical and biochemical features and the presence of a bone or soft tissue tumor, cytologic examination might potentially provide the necessary pathologic confirmation of OO. In this case of a 46-year-old female with clinical stigmata of OO and a right distal humeral mass, we report that the fine-needle aspiration findings of short, cytologically bland spindled cells embedded in a fine, fibrillary stromal-rich matrix and the presence of osteoclast-type giant cells associated with the stromal matrix provide strong pathological evidence for PMTMCT and assist in pathologically confirming the clinical impression of OO, thus alleviating the need for a more invasive diagnostic surgical procedure.
致癌性骨软化症（OO）是一种罕见的副肿瘤性疾病，其中骨或软组织肿瘤通常通过产生磷尿蛋白、成纤维细胞生长因子-23来诱发骨软化症（或佝偻病）的生化及临床体征和症状。混合结缔组织型磷尿性间叶肿瘤（PMTMCT）是一种罕见的、组织学上有明显特征的肿瘤，是OO最常见的病因。由于OO的临床诊断通常基于临床和生化特征以及骨或软组织肿瘤的存在而被怀疑，因此细胞学检查可能会为OO提供必要的病理证实。在本例中，一名46岁女性有OO的临床特征及右肱骨远端肿块，我们报告细针穿刺结果显示短梭形细胞，细胞学上平淡无奇，嵌入细的、富含纤维基质的基质中，且存在与基质相关的破骨细胞型巨细胞，这些为PMTMCT提供了有力的病理证据，并有助于从病理上证实OO的临床印象，从而无需进行更具侵入性的诊断性手术。
