髌骨软骨母细胞瘤临床诊疗经验并文献复习

目的 探讨髌骨软骨母细胞瘤的临床诊断、鉴别及治疗方法并对相关文献进行复习，以增强对此病的认识和理解。方法 报道华中科技大学同济医学院附属同济医院2014年7月至2022年1月收治的髌骨软骨母细胞瘤患者3例，对患者进行病史采集、体格检查及影像学扫描，发现髌骨内呈单囊性或多囊性膨胀性骨破坏表现，完善术前检查后行髌骨病变囊内刮除、囊壁电烧并异体/自体骨植骨手术，其中1例因病理性骨折行克氏针内固定并“8”字钢丝捆扎。结果 术后病理诊断皆为髌骨软骨母细胞瘤，其中1例合并动脉瘤样骨囊肿并病理性骨折。术后患者伤口皆愈合良好，内固定稳定，随访期间关节活动度良好，行走负重无不适，无复发。结论 髌骨软骨母细胞瘤的发生率极低，若合并动脉瘤样骨囊肿，则诊断难度增大，容易误诊，需要结合临床检查、影像学资料、病理学会诊等综合评估，治疗方法为打通、彻底刮除囊腔内病变肿瘤组织、电烧囊壁并充分植骨。     

纤维结构不良的形态学变异及鉴别诊断

目的分析纤维结构不良(fibrous dysplasia，FD)的各种形态学变异、临床病理特征及鉴别诊断。方法用HE及SP法免疫组织化学染色对52例形态学变异的纤维结构不良作回顾性分析。结果在纤维结构不良146例中发现52例有7种不同的病理形态学变异(占35．6％)，分别为纤维软骨性结构不良(fibrocartilaginous dysplasia，FCD)，类似牙骨质样结构的FD，FD间质高度黏液变性，FD合并血管瘤样增生、FD继发动脉瘤性骨囊肿或单纯性骨囊肿，FD伴病理性骨折、骨痂形成，FD肉瘤变。FCD中出现圆形结节状高分化透明软骨岛，需同去分化软骨肉瘤、FD的软骨肉瘤变、纤维软骨性间叶瘤及内生性软骨瘤鉴别；骨小梁形态类似牙骨质样结构的FD需同脑膜瘤、骨化性纤维瘤鉴别；FD合并动脉瘤性骨囊肿和病理性骨折、骨痂形成时需同血管扩张型骨肉瘤鉴别；FD肉瘤变以骨肉瘤变最常见，需与原发性骨肉瘤鉴别。结论形态学变异的FD在病理诊断时应密切结合临床资料、放射学改变。熟悉FD形态学变异特点，寻找病灶中典型FD结构是至关重要的。     

透明细胞软骨肉瘤临床病理诊断

目的探讨透明细胞软骨肉瘤的临床、影像学、病理学、生物学行为等特征以及病理鉴别诊断。方法报道4例透明细胞软骨肉瘤,对其临床、病理和随访资料作系统整理,并行免疫组化EnVision两步法S-100蛋白、Col Ⅱ和其它与鉴别诊断相关的蛋白标记。结果4例都是中老年男性,均位于长骨骨端,病程较长。X线表现为纯溶骨性骨质破坏,早期边界清楚,后期病灶扩大并向骨干方向延伸,但均未穿透骨皮质,不形成骨外软组织肿块。大体肿瘤灰白色,有弹性,其中2例伴动脉瘤性骨囊肿。镜下瘤细胞边界清楚,有分叶结构,胞质丰富透明或嗜酸性毛玻璃状。透明细胞之间有反应性新骨和破骨细胞样巨细胞增生。其中3例含低级别普通软骨肉瘤成分。免疫组化标记S-100蛋白和Col Ⅱ阳性。临床治疗和随访：例1行右股骨下端病灶刮除后6年原位复发,再作病骨切除和人工膝关节置换。例2行股骨颈肿瘤切除后植骨,缝匠肌骨瓣移植及内固定术,术后放疗。例3行股骨下端肿瘤切除后骨水泥填充,术后放疗。上述3例经2年4个月～7年随访情况均良好。例4行右股骨上端截除手术,术后失访。结论透明细胞软骨肉瘤是一种罕见的低度恶性软骨肉瘤,有不同于普通软骨肉瘤的临床、影像学和病理形态学特点。在病理诊断时既应注意与良性软骨母细胞瘤和骨母细胞瘤鉴别,也应与高度恶性透明细胞型骨肉瘤和转移性透明细胞癌鉴别。     

奇异性骨旁骨软骨瘤样增生5例临床病理学分析

目的探讨奇异性骨旁骨软骨瘤样增生(bizarre parosteal osteochondromatous proliferation,BPOP)的临床影像学和病理组织学特征、鉴别诊断、治疗及预后。方法对5例BPOP进行HE染色,并进行相关文献复习。结果 5例BPOP患者发病年龄17~48岁,无性别差异,均感觉肿痛不适就诊,病变位于四肢长、短管状骨。X线示宽基底的边界清晰的高密度肿块,起源骨膜下完整的骨皮质,病变部位与附着骨的骨髓腔亦不相通,其中1例伴附骨的骨皮质轻度破坏。镜下见主要由软骨、骨和纤维组织无规则排列而成,轻度异型的软骨细胞可伴大部分钙化软骨,即多形性骨小梁中的"蓝骨";骨小梁周围被覆无异型的骨母细胞,骨小梁间有大量的血管、纤维组织增生。结论 BPOP是一种罕见的、良性的骨软骨瘤样病变,术后高复发性,无转移,恶变罕见,需结合影像学与病理组织学特点进行诊断,易误诊,需与骨旁骨肉瘤、软骨肉瘤、骨化性肌炎等鉴别。     

H3.3 K36M突变蛋白表达在软骨母细胞瘤诊断及鉴别诊断中的价值

目的探讨组蛋白H3.3的36位赖氨酸至甲硫氨酸(K36M)突变蛋白表达在软骨母细胞瘤中的诊断及鉴别诊断价值。方法收集2016年1月至2019年12月就诊于北京积水潭医院的软骨母细胞瘤及其他骨肿瘤病例,光镜观察并结合临床影像学明确诊断。EnVision法免疫组织化学检测H3.3 K36M突变蛋白的表达。结果骨肿瘤共计196例:软骨母细胞瘤68例(包括6例复发病例),骨巨细胞瘤59例,内生软骨瘤9例,透明细胞软骨肉瘤3例,软骨肉瘤Ⅰ级9例,软骨肉瘤Ⅱ级9例,软骨肉瘤Ⅲ级2例,去分化软骨肉瘤11例,软骨黏液样纤维瘤6例,动脉瘤样骨囊肿9例,非骨化性纤维瘤9例,成软骨为主型骨肉瘤2例。免疫组织化学显示95.6%(65/68)的软骨母细胞瘤呈H3.3 K36M突变蛋白阳性表达,其余128例皆为阴性。诊断的灵敏度为95.6%,特异度为100.0%。结论免疫组织化学H3.3 K36M突变蛋白检测在软骨母细胞瘤中显示较高的特异度和灵敏度,在临床实践中具有较高的诊断及鉴别诊断价值。     

含BMP的骨填充材料在骨肿瘤与瘤样病变手术中的应用

目的 探讨含骨形态发生蛋白(BMP)的骨填充材料在骨肿瘤及瘤样病变手术中的临床应用价值。方法本组骨肿瘤及瘤样病变患者34例，男20例，女14例。骨填充材料(金骨威、金世植骨灵)应用方法：病灶刮除术骨缺损填充：灭活术后骨缺损填充；病灶切除后在骨干一假体结合部或骨干一同种异体1／4关节结合部植入骨填充材料。肿瘤及瘤样病变类型包括骨纤维结构不良、骨巨细胞瘤、骨肉瘤、骨囊肿、动脉瘤样骨囊肿、内生软骨瘤、软骨粘液样纤维瘤、非骨化性纤维瘤、骨母细胞瘤。观察患者术后全身及局部反应和影像学变化。结果平均随访时间13．5个月。全部患者均无全身不良反应，除1例创口二期愈合外，余病例未见明显局部反应。X线片显示术后3～6个月即有填充材料降解和骨替代现象发生。结论在骨肿瘤与瘤样病变手术中应用含BMP的骨填充材料代替自体或异体骨移植，不增加创伤，并发症少，术后基本无不良反应，且骨缺损修复效果满意，是理想的骨缺损填充材料。     

18例软骨母细胞瘤的免疫组化及超微结构观察

1942年Jaffe和Lichtenstein首次报道软骨母细胞瘤是一种少见的特殊类型骨肿瘤,把它和骨巨细胞瘤分开。截止1985年,英文文献约有800余例报道。本文报道18例软骨母细胞瘤的临床、病理、免疫组织化学及超微结构观察。1 材料和方法我们自1970～1992年共收集软骨母细胞瘤18例(外单位4例)。1.1 光镜检查材料制备18例活检组织用10%福尔马林固定、石     

X线与CT诊断对成软骨细胞瘤的诊断价值对比分析

目的探讨X线与CT诊断对成软骨细胞瘤的诊断价值,提高对本病的诊断水平。方法收集2002年6月至2011年3月拟诊断为成软骨细胞瘤患者32例,均行X线和CT检查。结果X线显示病灶均为圆形或不规则形局限性骨破坏区,CT显示病灶呈不同程度的分叶状,边界清楚,半环形钙化。以病理结果为标准判断,X线诊断的敏感性为96．2％,特异性为16．7％,CT的诊断敏感性与特异性分别为96．8％和100．0％。两种检查方法诊断的敏感性均较高,对比无明显差异。但是CT诊断的特异性明显高于X线诊断（P〈0．05）。结论成软骨细胞瘤的X线诊断与CT诊断各具优势,但是CT诊断的特异性更好,在临床应用中两者相结合能够提供更多的诊断信息,有利于本病的诊断与鉴别诊断。     

艾滋病合并肺结核X线表现特征

目的：探讨艾滋病合并肺结核X线表现特征,以减少误诊。方法回顾分析28例经临床检验证实的艾滋病合并肺结核X线表现。结果病灶累及单个肺野5例,两个肺野10例,两侧全肺野13例。治疗后复查,大部分病例经单纯抗结核治疗,不能有效遏制病灶的进展。结论艾滋病合并肺结核X线表现病变范围广、发病部位无规律、类型不典型,还具有反复性、变化快,常合并有其它机遇性感染的特点。     

骨肉瘤的组织学类型

2．1血管扩张型骨肉瘤telangiectatic osteosarcoma)X线为纯溶骨性病变伴渗透型边缘，提示肿瘤浸润性生长。有时肿瘤边界可比较清楚，类似动脉瘤性骨囊肿，但肯定缺乏周围硬化带。如果病变内有明显硬化应排除血管扩张型骨肉瘤的诊断，但也并不是所有纯溶骨性改变的骨肉瘤都是血管扩张型。肿瘤常快速生长，骨皮质破坏，软组织内肿块和骨     

Clear cell chondrosarcomas arising from rare sites

Three cases are reported of clear cell chondrosarcoma arising from unusual sites: talus, rib and vertebra. Radio-graphically, two tumors showed osteolytic features and the vertebral tumor showed osteoplastic change. Histologically, ell tumors consisted of clear cells that had a centrally piaced nucleus surrounded by clear cytoplasm, osteoclast-like giant cells, am of conventional chondrosarcoma, and various amounts of reactive bone. The tumor in the talus was initially diagnosed as benign chondroblastoma, but it recurred. The rib tumor showed marked cystic formation stimulating aneurysmal bone cyst. The osteoplastic radio-graphic feature in vertebral tumor was considered to be due to the abundant bone formation.     

Chondroblastoma of the temporal bone: a clinicopathologic study of five cases

Chondroblastoma is a rare benign bone tumor. It commonly affects the epiphysis of long bones during the second and third decades of life. Chondroblastoma of the temporal bone is extremely rare. We reviewed five cases of chondroblastoma arising in the temporal bone. Four cases were female and one was male. The ages ranged from 41 to 60 years (mean, 53.6 years). All cases involved the temporal bone. Three involved the left side and two the right. Chief complaints were long-standing localized pain and hearing difficulty. A sharply demarcated lobulated mass was the main radiological finding. Microscopic findings were those of chondroblastoma of usual locations. Two cases showed aneurysmal bone cyst-like areas. Immunohistochemical studies for CD34, CD99, S-100 protein and cytokeratin were performed. Tumor cells were diffusely positive for S-100 protein in three cases and weakly positive for cytokeratin in one case. CD34 and CD99 were negative in all cases. In summary, chondroblastoma of the temporal bone is rare and occurs in older age group than reported cases of chondroblastoma of the usual location in the literature.     

Aneurysmal bone cyst of the parietal bone. Case report

Aneurysmal bone cyst is a benign lesion of unknown pathogenesis seen more often in vertebrae and flat bones, and less commonly in the shaft of long bones. Skull involvement is rare and accounts for only 3-6% cases, generally in the first three decades of life. Histologically, the lesion is characterised by the presence of multiple localisations, filled with venous blood and lined by spindle-shaped fibroblasts with scattered multinucleated giant cells and stromal cells. An unusual case of aneurismal bone cyst of the parietal bone is reported.     

老年原发性骨肉瘤12例临床及病理分析

目的 探讨老年原发性骨肉瘤的临床、影像学、病理学特征及鉴别诊断要点.方法 回顾分析北京积水潭医院1985-2010年间手术治疗的12例年龄>60岁的老年原发性骨肉瘤患者的临床、影像学及病理学资料,并对患者进行随访.结果 发病部位位于四肢长骨7例,髂骨1例,颅面骨2例及软组织2例.影像学显示,10例骨肿瘤患者为混合性骨破坏(既有成骨性又有溶骨性破坏),其中8例有骨膜反应和软组织包块.2例软组织骨肉瘤患者可见软组织内有高密度影.组织学除经典普通型骨肉瘤外,2例以恶性梭形细胞为主要成分,2例以软骨为主要成分,1例为髓内高分化骨肉瘤.选择的免疫组织化学(EnVision法)染色没有特异性的改变.10例患者接受瘤段切除或截肢手术,其中1例术前依据个人情况接受正规辅助化疗.除3例失随访外,对9例进行了跟踪随访,随访时间3个月到6年,平均2.8年,其中3例死于肺转移,1例因心脑血管疾病死亡,5例仍存活.结论 老年人原发性骨肉瘤极罕见,可能漏诊或误诊.确诊需结合临床和影像学的相关证据支持.

Abstract：

Objective To study the clinical manifestations, radiologic findings, pathologic diagnosis and differential diagnosis of primary osteosarcoma in elderly patients. Methods Twelve cases of primary osteosarcoma occurring in patients older than 60 years were encountered during the period from 1985 to 2010. The clinical manifestations, radiologic features and pathologic findings were studied and the follow-up data were analyzed. Results The sites of involvement included long bones (number=7), ilium (number=1), craniofacial bones (number=2) and soft tissue (number=2). Radiologic examination showed a mixture of osteosclerotic and osteolytic lesions in 10 patients, soft tissue lesions with high-density areas in 2 patients and soft tissue lesions with periosteal reaction in 8 patients. Histologically, most cases showed features of conventional osteosarcoma. There were 2 cases of malignant fibrous histiocytoma-like osteosarcoma, 2 cases of chondroblastic osteosarcoma and 1 case of well-differentiated intraosseous osteosarcoma. Immunohistochemical study played little role in pathologic diagnosis. Ten patients had undergone amputation, including one patient who had received adjuvant chemotherapy beforehand. Nine patients had follow-up information available. Three of them died of lung metastasis and 1 died of cardiovascular disease. Conclusions Primary osteosarcoma rarely occurs in elderly patients and can easily be missed. Correlation with clinical, radiologic and histologic features is important for arriving at a correct diagnosis.     

Telangiectatic osteosarcoma--a case report

Telangiectatic osteosarcoma is a rare and special variant of osteogenic sarcoma with distinct radiologic, gross and microscopic features. This tumor is predominantly lytic, destructive tumor without sclerosis on roentgenogram, and is soft and cystic on gross examination. Histologically aneurysmally dilated spaces lined or traversed by stromal cells producing osteoid are noted. This report concerns a case of telangiectatic osteosarcoma occurring in a 7 years old boy. He presented with pathologic fracture of the right distal tibia, followed by a purely lytic lesion on X-ray examination. This lesion recurred five times during a span of one year. Microscopic features of the biopsy specimen was difficult to differentiate from aneurysmal bone cyst because of prominant blood-filled cyst formation. It was finally identified as osteosarcoma from the below-knee amputation specimen through the close examination for anaplastic osteoid-producing stromal cells in the septa that separate the blood cysts.     

Chondroblastoma of bone: Use of fine-needle aspiration biopsy and potential diagnostic pitfalls

Chondroblastoma of bone is a well-characterized entity. When the radiographic features are classic and the lesion is present in typical locations (i.e., epiphysis of a long bone), the diagnosis is often easily established by fine-needle aspiration biopsy and/or surgical curettage. Tumors in unusual locations, in older patients, or when complicated by aneurysmal bone cysts may pose more diagnostic difficulty. We report four examples (three primary and one recurrent) of chondroblastoma of bone diagnosed by fine-needle aspiration biopsy. All patients were men, ranging from 18 to 28 yr of age. Sites of involvement included the acromion process of the scapula, left humerus, right ischium, and left distal femur. Three of the tumors were diagnosed as chondroblastoma on fine-needle aspiration cytology; the fourth case, involving the scapula, consisted mostly of a large aneurysmal bone cyst and remained unrecognized until surgical curettage was performed. Typical-appearing chondroblasts were present in three of the cases; osteoclast-type giant cells were observed in all four cases. Matrix material consistent with chondroid was also identified in all cases. We believe that in the absence of inflammatory cells, the presence of classic-appearing chondroblasts, even without chondroid matrix, is sufficient for a diagnosis of chondroblastoma of bone. Diagn. Cytopathol. 16:65–71, 1997. © 1997 Wiley-Liss, Inc.     

Epiphyseal osteosarcoma revisited: four illustrative cases with unusual histopathology and literature review

Osteosarcomas arising in the epiphysis are extremely rare and easily missed in the diagnostic consideration of epiphyseal tumors. It is the purpose of this study to delineate the clinical pathological characteristics of ‘epiphyseal osteosarcoma’ under the definition of ‘a solitary long bone osteosarcoma radiographically considered an epiphyseal tumor for which the main radiologic differential diagnosis would encompass giant cell tumor, chondroblastoma and clear cell chondrosarcoma’. Four such cases with unusual histopathology were retrieved among 110 cases of osteosarcoma. Their clinical, radiological and pathological features, together with all 10 reported cases, were analyzed. The radiographic diagnoses of our four cases include two giant cell tumors, one chondroblastoma and one clear cell chondrosarcoma but turn out to be fibroblastic, giant cell rich, telangiectatic and epithelioid variant of epiphyseal osteosarcoma. Including our patients, the 14 reported epiphyseal osteosarcomas comprise 8 males and 6 females, the age at presentation ranges from 11 to 39 years, two‐third in the second decade, 71.4% affect the femur. Due to their epiphyseal locations, many carry benign radiological diagnoses notably giant cell tumor and chondroblastoma. Epiphyseal osteosarcomas may not only masquerade as benign radiological bony lesions but also assume many histological patterns; orthopedic surgeons, radiologists and pathologists should be aware of such possibility. Their behavior and prognosis are dictated by the histologic types, grading and staging rather than location.     

Intraosseous lipoma. A clinical, radiologic, and pathologic study of 5 cases

Intraosseous lipoma is an uncommon tumor of bone with indistinct radiologic features that makes it diagnostically challenging to radiologists and pathologists. There is a need to familiarize these physicians with the radiographic and pathologic features of this lesion for the correct diagnosis. We described the radiologic and pathologic features of intraosseous lipoma in 5 women. In 4 patients, the tumors occurred in long bones, whereas in the fifth patient, the skull was involved. Patients' age ranged from 50 to 63 years. Plain radiographs of the long bones revealed well-circumscribed benign-appearing osteolytic lesions with sclerotic margins, whereas in the skull, a poorly defined lytic aggressive-looking lesion was observed. In the long bones, the lesions showed remodeling of the affected bone with matrix calcification, simulating bone infarcts. Microscopically, mature adipose tissue with fat necrosis, absence of hematopoietic elements, and dystrophic calcification corresponding to the calcified matrix seen on the plain radiographs were seen. The osteolytic skull lesion had large caliber thin-walled vasculature with occasional fibrin thrombi mimicking intramuscular hemangiomas of soft tissue. On plain radiographs, an intraosseous lipoma is usually seen as a rather benign-appearing osteolytic bone lesion with well-defined margins and a heavily calcified/ossified dense matrix. Plain radiographs alone cannot establish the diagnosis of intraosseous lipoma as it mimics several other benign and malignant bone lesions. Intraosseous lipoma often contains calcified necrotic fat with little mature adipose tissue and characteristically induces expansion/remodeling of the affected bone.     

Das Chondromyxoidfibrom Morphologische Variationsbreite,Lokalisation, Häufigkeit,radiologische Kriterien und Differentialdiagnose

Chondromyxoid fibroma is a rare benign bone tumor, accounting for less than 1% of all bone tumors. The peak age incidence is the second and third decade of life. Chondromyxoid fibrom occurs in the metaphyseal parts of the major tubular bones, predominantly of the lower extremity. Roentgenograms show, in most cases, a well-demarcated radiolucent lesion. The classic histological feature of a chondromyxoid fibroma is stellate or spindle-shaped cells arranged in lobules in a myxoid or chondroid background. Analysis of 40 chondromyxoid fibromas demonstrates the morphological variation of this tumor. Cases were examined for age distribution, localization, and radiological and histological features. In 85% we found the typical histomorphological pattern. Recurrence rate was 12.5%. In four cases the appearance was uncharacteristic and differentiation from other tumors such as chondroblastoma or chondrosarcoma was quite difficult. By adhering to strict histomorphological criteria, definite diagnosis of chondromyxoid fibroma can be made in most cases.