鞍区原发性软骨肉瘤5例临床病理学观察

目的 探讨鞍区原发性软骨肉瘤的临床病理学特征及诊治要点。方法 回顾性分析5例鞍区原发性软骨肉瘤的临床病理学特征、影像学表现及免疫表型，行免疫组化和分子检测，并复习相关文献。结果 5例患者均为女性，年龄16～53岁，临床症状以头痛及视力障碍为主，均行颅底肿瘤切除术。镜检：肿瘤由软骨细胞和丰富的黏液样软骨基质组成，呈分叶状，瘤细胞轻-中度异型，可见双核细胞，核分裂象罕见。免疫表型：肿瘤细胞S-100蛋白和vimentin均阳性。1例肿瘤细胞IDH-1阳性。CKpan、EMA和Brachyury均阴性，Ki-67增殖指数为2%～5%。3例行IDH分子检测，其中1例呈IDH-1 R132L突变，2例为野生型。4例获得随访，均存活，其中2例复发。结论 鞍区软骨肉瘤是一种罕见的鞍区恶性肿瘤，术前诊断具有挑战性。需与软骨样脊索瘤、脊索样脑膜瘤及骨外黏液样软骨肉瘤等鉴别，治疗首选手术切除。     

脑转移性骨外黏液样软骨肉瘤1例并文献复习

目的：探讨脑转移性骨外黏液样软骨肉瘤( extraskele-tal myxoid chondrosarcoma, EMC)的临床病理学特征、免疫表型及鉴别诊断。方法采用免疫组化MaxVision法对1例脑转移性EMC进行观察并复习相关文献。结果患者既往病史为右小腿黏液样软骨肉瘤,术后复发2次;MRI示右侧颞枕顶叶见团片状囊实性占位,病灶实性部分见片状不均匀明显强化;镜下见富于软骨黏液样间质内可见圆形或小梭形散在分布的肿瘤细胞,细胞胞质嗜酸性,细胞核蓝染、较一致,核分裂象罕见。免疫表型：S-100、vimentin、Syn及NSE均阳性。结论 EMC为少见的恶性软组织肿瘤,脑转移性EMC临床极为罕见。     

骨内侵袭性血管黏液瘤的诊断及与其他黏液性骨肿瘤的鉴别

目的探讨骨内侵袭性血管黏液瘤(aggressive angio-myxoma,AAM)的临床病理特征、诊断及鉴别诊断。方法对1例骨内AAM的临床、影像学和病理特征进行观察,并通过HE、免疫组化染色将其与1例软组织AAM、1例黏液样软骨肉瘤(myxofibrosarcoma,MFS)、1例黏液纤维肉瘤(myxofi-brosarcoma,MFS)、2例黏液性脂肪肉瘤(myxoid/round cellliposarcoma,ML/RCL)及4例肌内黏液瘤(intramuscularmyxoma,IM)进行对比分析。结果镜下骨内AAM由稀疏排列的细胞及富含黏液的水肿性间质组成,细胞呈星形或梭形,部分细胞呈肌纤维母细胞样,细胞核小,梭形,细胞间可见疏松排列的纤细红染的胶原成分,胶原间可见大小不等扩张的血管,局部可见肿瘤浸润骨皮质进入周围肌肉组织。免疫表型:所有肿瘤组织均表达vimentin,骨内AAM与软组织AAM尚表达SMA、actin,未检测到ER、PR的表达,软组织AAM表达PR及CD34,两者均未检测到desmin的表达。黏液样软骨肉瘤及黏液性脂肪肉瘤尚表达S-100,黏液纤维肉瘤及肌内黏液瘤尚表达CD68。结论骨内AAM罕见,诊断时应结合组织学及免疫组化特点并与其他含黏液的肿瘤相鉴别。     

软骨样脂肪瘤1例报道及文献复习

目的探讨软骨样脂肪瘤的临床、病理学特点和鉴别诊断。方法报道1例右小腿软骨样脂肪瘤的临床资料、光镜、组化、免疫组化及电镜观察结果,结合文献讨论。结果镜下见肿瘤由3种成分以不同比例混合构成:①较成熟脂肪细胞体积小的单泡状和多泡状脂肪母细胞,胞质淡染为主,少数细胞呈嗜酸性,核形多样,无异型性及核分裂象,排列成片状和巢状;②脂肪母细胞间黏液透明性软骨样基质;③多少不等的成熟脂肪细胞。PAS染色见脂肪母细胞的胞质内含许多可被淀粉酶消化的深红染颗粒,提示存在糖原。AB染色见黏液透明性软骨样基质呈阳性反应,并部分耐透明质酸酶消化,提示含有硫酸软骨素。脂肪母细胞和成熟脂肪细胞表达S-100蛋白,其中脂肪母细胞对S-100蛋白的表达与脂肪母细胞分化成熟程度相关。电镜观察可见处于不同发育阶段的脂肪母细胞,脂肪母细胞周围被絮状的软骨样基质围绕。结论软骨样脂肪瘤是一种十分罕见的良性脂肪细胞肿瘤的特殊类型,具有独特的组织学形态,应注意与黏液型脂肪肉瘤和骨外黏液样软骨肉瘤等肿瘤鉴别。     

乳腺原发性黏液性囊腺癌临床病理分析和文献复习

目的 探讨乳腺原发性黏液性囊腺癌(mucinous cystadenocarcinoma,MCA)的临床病理特征及鉴别诊断.方法 分析1例MCA的组织病理学、免疫表型资料并复习文献.结果 乳腺肿物切面呈囊实性.镜下见大小不等、分布不均的囊性区,囊壁衬覆富含黏液的肿瘤细胞,或呈单层柱状、或复层化增生或形成乳头状结构.肿瘤细胞胞质内黏液呈PAS、AB染色阳性.肿瘤细胞CK7阳性,CK20阴性,ER、PR、HER2均阴性.囊壁肿瘤细胞外侧肌上皮细胞呈p63、SMA阴性.结论 (1)MCA是主要发生于绝经后妇女的罕见肿瘤,预后较好.(2)与卵巢和(或)胰腺黏液性囊腺癌类似,诊断原发肿瘤需先排除转移可能.     

骨外黏液样软骨肉瘤病理与鉴别诊断附4例报道并文献复习

目的 探讨骨外黏液样软骨肉瘤(extraskeletal myxoid chondrosarcoma,EMC)的临床病理特点、免疫表型及病理诊断与鉴别诊断要点.方法 收集4例EMC,对其临床、病理组织学及免疫表型进行观察并复习相关文献.结果 4例患者均为成年男性,平均年龄40.2岁,平均病程约30.3个月.主要表现为无痛性或有触痛性软组织肿块,3例发生于下肢,1例发生于胸壁.病理检查:(1)眼观见瘤体最大径平均6.5 cm,切面呈多结节状,有黏液感,界清.(2)镜检见肿瘤呈分叶状生长,瘤细胞排列呈索状、簇状或纤细网状.3例间质富于黏液样基质,1例富于软骨样基质,血管较稀疏.免疫组化:4例均表达Vim(4/4),3例表达S-100蛋白(3/4),2例表达NSE(2/4),2例表达CgA和Syn(2/4),1例表达CKpan(1/4),1例Ki-67阳性率为50%,3例Ki-67阳性率均<5%,4例均不表达SMA和EMA.结论 EMC是一种罕见的软组织肿瘤,其诊断主要依靠发生部位和组织病理学特征,免疫组化标记可帮助诊断和鉴别诊断.     

乳腺癌肉瘤1例报道及文献复习

目的探讨乳腺癌肉瘤的临床病理学特征及其鉴别诊断。方法对1例乳腺癌肉瘤进行组织病理学和免疫表型观察并复习文献,了解该肿瘤的特征。结果镜检显示病变边界清楚,以软骨肉瘤为主,其边缘有少量分化较差的浸润性导管癌成分。免疫表型：软骨肉瘤细胞vimentin强阳性,S-100蛋白阳性,ER、PR,c-erbB-2和CK（AE1／AE3）均阴性;癌细胞CK（AE1／AE3）、ER、PR及c—erbB—2均阳性,vimenfin、S—100蛋白阴性。结论原发于乳腺的癌肉瘤较罕见,诊断需与乳腺恶性分叶状肿瘤以及软组织肉瘤鉴别。     

胫骨皮质旁软骨肉瘤1例报道及文献复习

目的：了解皮质旁软骨肉瘤的临床病理特征、诊断及鉴别诊断要点。方法：报道1例胫骨皮抽旁软骨肉瘤临床和病理改变，结合文献对该肿瘤的临床表现、病理形态学特征及诊断和鉴别诊断要点进行讨论。结果：皮质旁软骨肉瘤大体呈结节状，切面分叶状、瓷白色半透明，有砂砾感。镜下肿瘤主要为分化良好的透明软骨成分，由纤细的纤维束分割，或由化生的内小梁包裹，可见软骨内钙化和骨化，可见灶性区黏液变性，缺乏肿瘤性骨样基质，免疫组织化学标记显示肿瘤细胞Vim、S-100蛋白阳性，PCNA少数细胞阳性。结论：皮质旁软骨肉瘤是罕见的恶性程度较低的软骨肉瘤。     

浅表肢端纤维黏液瘤1例临床病理学观察

目的 探讨浅表肢端纤维黏液瘤的临床病理学特征、诊断及鉴别诊断。方法 对1例发生于右手食指末端的浅表肢端纤维黏液瘤的临床表现、组织学形态及免疫表型进行回顾性分析,并文献复习。结果 患者男性,78岁,因右手食指末端肿块伴疼痛就诊。术中见肿块累及甲床,深至骨膜。大体可见肿块界限不清,直径约2 cm,切面灰白色,实性,质韧。镜下肿瘤位于真皮层内,无包膜。肿瘤实质由星形及梭形纤维母细胞样细胞组成,肿瘤细胞杂乱排列于间质中,部分区域呈席纹状及束状排列,间质呈黏液样及黏液胶原样。黏液样基质内见较丰富的纤细血管,并见散在的肥大细胞。肿瘤细胞温和,轻度异型。肿瘤无坏死,未见核分裂象。免疫表型:肿瘤细胞vimentin、CD34、CD99均呈弥漫阳性,EMA灶阳性,S-100、HMB-45、SMA、MSA、desmin、GFAP和CK均呈阴性。术后随访10个月,未见复发。结论 浅表肢端黏液瘤是一好发于指趾末端的软组织肿瘤,熟悉其临床病理特征,有助于与其他发生于指趾的软组织黏液性肿瘤鉴别。     

中枢神经系统硬膜原发性间叶软骨肉瘤二例

中枢神经系统间叶软骨肉瘤是非常罕见的恶性肿瘤,占原发颅内肿瘤的0.16％［1］。颅内间叶软骨肉瘤最早由Dahlin和Henderson于1962年报道［2］。肿瘤通常附着于硬膜,影像学上易与脑膜瘤（脊膜瘤）和血管周细胞瘤混淆［3］。现报道2例骨外硬膜原发性间叶软骨肉瘤,1例发生于颅内左侧颞枕部,1例发生于T1～2水平椎管内硬膜下。探讨该肿瘤的临床影像学表现、组织病理学特点及鉴别诊断并复习相关文献。     

Fine‐needle aspiration cytology of extraskeletal myxoid chondrosarcoma: A case report

Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft tissue tumor arising in extremities. We report a typical case of EMC in left inguinal region of a 71‐year‐old man, which was first approached by fine‐needle aspiration, followed by surgical excision and subsequently diagnosed by microscopic examination and immunohistochemical study. We discuss briefly the differential diagnosis. It is important to separate EMC from other myxoid soft tissue tumors. We point out that although cytologic features may be orientating to a myxoid tumor, may not be completely distinctive. Diagn. Cytopathol. 2010. © 2009 Wiley‐Liss, Inc.     

Extraskeletal myxoid chondrosarcoma: Fine-needle aspiration biopsy findings

Extraskeletal myxoid chondrosarcoma (EMC) is a malignant soft tissue tumor which typically presents as an enlarging mass in an extremity. In this location it is amenable to sampling and diagnosis by fine-needle aspiration biopsy. We present our experience with three cases of EMC and discuss the differential diagnosis of myxoid soft tissue tumors. Diagn Cytopathol 1994; 11:363–366. © 1994 Wiley-Liss, Inc.     

Extraskeletal myxoid chondrosarcoma arising from the retroperitoneum

A case of extraskeletal myxoid chondrosarcoma is presented. The tumor occurred in the retroperitoneum and systemic metastases were found at autopsy. The primary and metastatic tumors were soft and strikingly myxoid on gross appearance. Microscopic observation revealed undifferentiated malignant tumor having large amounts of myxoid substance and a small amount of well-differentiated chondrosarcoma element in the primary lesions. The authors obtained an immunohistochemical result that the tumor cells showed positivity for alpha-1-antitrypsin and alpha-1-antichymotrypsin. Regarding S-100 protein, the well-differentiated chondrosarcoma element revealed intense positivity, whereas the poorly differentiated myxoid areas were not positive except for a few tumor cells. This is the first case, to our knowledge, of extraskeletal myxoid chondrosarcoma arising from the retroperitoneum, and immunohistologic findings suggest that alpha-1-antitrypsin and alpha-1-antichymotrypsin may be available markers in poorly differentiated chondrosarcomas showing a negative reaction for S-100 protein.     

Myxoid variant of adrenocortical carcinoma: report of a unique case

Myxoid variant of adrenocortical carcinomas (ACC) are rare, there being only 11 cases in the literature to date. Reported herein are the findings of a case, which in contrast to all previously reported myxoid ACC, was devoid of typical non-myxoid areas. The patient was a 61-year-old man in whom a left adrenal mass was detected during investigation of Cushing's syndrome. The adrenal was replaced by malignant cells and expanses of myxoid material. The cells were positive for melan-A, synaptophysin, vimentin and alpha-inhibin. The ultrastructural features of the cells were typical of adrenal cortical differentiation. The differential diagnosis of myxoid ACC includes extraskeletal myxoid chondrosarcoma, chordoma, myxoid adenocarcinoma, myxoma, lipomatous tumors, nerve sheath tumors, smooth muscle tumors, gastrointestinal stromal tumor and other sarcomas. The presence of myxoid material in a retroperitoneal lesion raises a broad differential diagnosis in which myxoid adrenocortical neoplasms should be included. Clinicoradiological correlation may be helpful, but special stains, immunohistochemistry and ultrastructural examination may be necessary to establish the diagnosis.     

Poorly differentiated extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q11) translocation presenting initially as a solid variant devoid of myxoid areas

Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft tissue tumor associated with the translocation t(9;22)(q22;q11-12). Although it has a typical microscopic appearance its morphologic spectrum is wide. We report a case of clinically aggressive, poorly differentiated EMC showing the characteristic translocation, which presented initially as a poorly differentiated sarcoma devoid of myxoid areas in the upper arm of an 85-year-old man. The recurrent tumor contained scattered myxoid areas, which merged imperceptibly with the poorly differentiated areas. Some myxoid areas contained necrotic foci surrounded by viable cells giving rise to a pseudorosette-like arrangement. There were epithelioid foci. This case confirms that solid variants of EMC may exist. Poorly differentiated EMC may have a worse prognosis than classic EMC.     

Phenotypic plasticity and prognostic factors in extraskeletal myxoid chondrosarcoma

Extraskeletal myxoid chondrosarcoma (EMC) is an intriguing entity with a broad morphologic spectrum that overlaps features found in other benign and malignant mesenchymal tumors. This phenotypic plasticity should be known to avoid erroneous diagnosis. The identification of older age, larger tumor size, proximal tumor location, and metastatic disease as independent adverse predictors of survival is useful in achieving optimal treatment and follow-up in high-risk patients.     

Extraskeletal myxoid chondrosarcoma: updated clinicopathological and molecular genetic characteristics

Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft-tissue sarcoma characterized by distinctive morphological and cytogenetical features. As its name implies, EMC was believed to represent a variant of soft-tissue chondrosarcoma owing to its histological resemblance to chondroblastic tissue in the early stages of cartilage development or chondroid tumors such as skeletal chondrosarcoma. However, the chondroid nature has been a subject of controversy, and its line of differentiation remains to be determined. Consequently, the tumor is provisionally classified into a group of tumors of uncertain differentiation in the revised World Health Organization classification of tumors of soft tissue and bone. Moreover, immunohistochemical and ultrastructural features of neural or neuroendocrine differentiation have been recently reported in a subset of EMC, providing a new insight into their histogenetic nature. Chromosomal rearrangements involving 9q22, such as t(9;22)(q22;q12), and resultant NR4A3 fusion genes are tumor-type specific or pathognomotic for this entity and are assumed to play an important role in the development of EMC. Although the biological mechanisms and functions are largely unknown, the NR4A3-related pathway is considered a potential molecular target for future therapeutic intervention. Because of its protracted but resilient nature, a tenacious and long-term follow up is necessary for any patient.     

Solitary fibrous tumor of the mammary gland: a potential pitfall in breast pathology

We report three cases of solitary fibrous tumor of the breast. The patients were adult to elderly women and complained of a slowly but relentless growing lump. The tumors were fairly circumscribed and cured by means of lumpectomy or, in one case, simple mastectomy. Histologically, they featured the customary "patternless pattern" of short spindle cells haphazardly arranged in fascicles within a collagenized or myxoid ground substance. In two cases, a prominent hemangiopericytic arrangement of tumor cells around a rich vascular framework could be noticed. Cellular areas were often present and showed nuclear overlapping, clumping of chromatin, and a brisk mitotic activity. No atypical mitosis was recognized. Tumor cells were immunoreactive for CD34, bcl2, and vimentin only. On follow-up there was no evidence of either local recurrence or distant metastases. Solitary fibrous tumors of the breast may represent a significant diagnostic problem because of the close mimicry to numerous benign and malignant mammary lesions composed of spindle cells; diagnostic clues may be further obscured in cellular and actively proliferating tumors. A brief overview of mammary solitary fibrous tumor taxonomy along with the principal differential diagnoses within the breast is presented.