Gambarotti Marco, Pacheco Marina, Ruengwanichayakun Poosit, Silvino Vega Jiménez Brayan, Benini Stefania, Bianchi Giuseppe, Sbaraglia Marta, Vanel Daniel, Carretta Elisa, Bertoni Franco, Franchi Alessandro, Dei Tos Angelo P, Righi Alberto
Department of Pathology, IRCCS, Istituto Ortopedico Rizzoli, Bologna, Italy.
Department of Orthopaedic Oncology, IRCCS, Istituto Ortopedico Rizzoli, Bologna, Italy.
Histopathology. 2020 Sep;77(3):391-401. doi: 10.1111/his.14170. Epub 2020 Jul 28.
To evaluate the available diagnostic histological criteria for synovial chondrosarcoma and to screen for the presence of IDH1/IDH2 mutations in a series of cases of this malignant cartilaginous neoplasm.
Ten cases of synovial chondrosarcoma diagnosed at our institute were reviewed. At presentation, all tumours occurred in adults (median age, 62 years). The most common location was the knee joint (five cases), and the size at diagnosis ranged from 30 mm to 170 mm. Eight patients had secondary synovial chondrosarcomas associated with pre-existing/recurrent or concomitant synovial chondromatosis. Five patients had local recurrences and three had lung metastases. All patients with intralesional excisions developed local recurrences, whereas those who underwent wide resections did not. At last follow-up (mean, 91 months), available for nine patients, seven patients were alive and disease-free, one patient had died of disease, and one was alive with paravertebral metastases. Frequent histological features observed included loss of clustering of chondrocytes (nine cases), the presence of variable amounts of myxoid matrix (eight cases), peripheral hypercellularity (eight cases), tumour necrosis (six cases), and spindling of chondrocytes (four cases). Of the seven cases for which it was possible to evaluate bone permeation, six showed infiltration of bone marrow. All seven cases screened for mutations of exon 4 of IDH1 and IDH2 were found to be wild-type.
Histological criteria in correlation with clinical and radiological features allow the recognition of synovial chondrosarcoma. IDH1/IDH2 mutations were not present in synovial chondrosarcoma. Adequate surgical margins are important for disease control.
评估滑膜软骨肉瘤可用的诊断组织学标准，并在一系列该恶性软骨肿瘤病例中筛查异柠檬酸脱氢酶1（IDH1）/异柠檬酸脱氢酶2（IDH2）突变的存在情况。
回顾了我院诊断的10例滑膜软骨肉瘤病例。就诊时，所有肿瘤均发生于成年人（中位年龄62岁）。最常见的部位是膝关节（5例），诊断时肿瘤大小为30毫米至170毫米。8例患者的继发性滑膜软骨肉瘤与先前存在的/复发性或伴发的滑膜软骨瘤病相关。5例患者出现局部复发，3例发生肺转移。所有接受病灶内切除的患者均出现局部复发，而接受广泛切除的患者未出现复发。在最后一次随访（平均91个月，9例患者可获得随访数据）时，7例患者存活且无疾病，1例患者死于疾病，1例患者存活但有椎旁转移。观察到的常见组织学特征包括软骨细胞聚集丧失（9例）、存在不同数量的黏液样基质（8例）、外周细胞增多（8例）、肿瘤坏死（6例）以及软骨细胞梭形化（4例）。在7例可评估骨浸润的病例中，6例显示骨髓浸润。所有7例筛查IDH1和IDH2第4外显子突变的病例均为野生型。
与临床和放射学特征相关的组织学标准有助于识别滑膜软骨肉瘤。滑膜软骨肉瘤中不存在IDH1/IDH2突变。足够的手术切缘对疾病控制很重要。
