Clinicopathological Features of Extraskeletal Myxoid Chondrosarcoma:An Analysis of 9 Cases

Objective： To investigate the Clinicopathological （EMC）. Methods： Nine cases of extraskeletal characteristics of extraskeletal myxoid chondrosarcoma myxoid chondrosarcoma were studied. Extensive immunohistochemical analysis was performed in all the cases and ultrastructural studies were done in 2 extraskeletal myxoid chondrosarcomas. Follow-up information was available for seven patients. Results： There were 7 males and 2 females whose ages ranged from 31 to 69 years （median 52.78 years）. Local pain or tenderness and the presence of a palpable mass were the main complaints of the patients. The tumors were located mainly in the lower extremities （66.7%）. Most tumors were deep-seated. They usually had a distinct multinodular configuration delineated by fibrous connective tissue. The tumor cells were arranged in delicate intersecting strands, rings, and garlands for the most part. The myxoid matrix was abundant in most cases. Immunohistochemical analysis was performed in all the cases and ultrastructural studies were done in 2 extraskeletal myxoid chondrosarcomas. EMC expressed vimentin （100%, 9/9）, neuron-specific enolase （77.8%, 7/9）, S-100 protein （66.7%, 6/9）, synaptophysin and chromogranin A （22.2%, 2/9）. None of the tumors expressed EMA and desmin. Ultrastructurally： EMC was characterized by distinct cords of cells immersed in a glycosaminoglycan rich matrix. The cells were rich in mitochondria, had well-developed Golgi apparatus and there were numerous smooth vesicles. In many cells, there were also prominent glycogen deposits and lipid droplets. Some tumor cells had intracisternal microtubules. In one of the 2 extraskeletal myxoid chondrosarcomas there were 140-180 nm diameter membrane-bound dense-core secretory granules in cell bodies. Conclusion： Extraskeletal myxoid chondrosarcoma （EMC） is a rare soft tissue sarcoma characterized by distinctive morphological and cytogenetical features. However, the chondroid nature has been a subject of controversy, and its line of differentiation remains to be determined. A substantial proportion of EMC shows immunophenotypic and/or ultrastructural evidence of neuroendocrine differentiation. EMC has high potential of local recurrence and metastasis, and a high disease-associated death rate.

Primary intracranial extraskeletal myxoid chondrosarcoma:A case report and review of literature

BACKGROUND Primary intracranial extraskeletal myxoid chondrosarcoma(EMC)is an extremely rare low-to intermediate-grade malignant soft tissue sarcoma,and only 15 cases have been reported in the literature.Due to its rarity,clinical data and research on this tumor type are extremely limited,the pathogenesis and histological origin are still unclear,and the diagnostic and standard clinical treatment strategies for intracranial EMC remain controversial and undefined.CASE SUMMARY We reported a case of a 52-year-old male who was admitted to the hospital with headache and dizziness for 1 mo,and his health status deteriorated during the last week.CT of the head showed a well-defined low-density lesion situated in the left cavernous sinus.Brain magnetic resonance imaging(MRI)showed a 3.4 cm×3.0 cm sized,well-defined,round-shaped and heterogeneously enhanced lesion located in the left cavernous sinus.The entire lesion was removed via supratentorial craniotomy and microsurgery.Postoperative pathological diagnosis indicated primary intracranial EMC.Subsequently,the patient underwent 45 Gy/15 F stereotactic radiotherapy after discharge.At present,it is 12 mo after surgery,with regular postoperative follow-up and regular MRI examinations,that there are no clinical symptoms and radiographic evidence indicating the recurrence of the tumor,and the patient has returned to normal life.CONCLUSION Currently,the most beneficial treatment for primary intracranial EMC is gross total resection combined with postoperative radiotherapy.Long-term follow-up is also necessary for patients.

Myxoid Meningioma:An Example of a Rare Brain Tumour of Difficult Diagnosis

We present a case of a Myxoid Meningioma noticed in a 43-year-old woman. The patient, who had no noteworthy medical antecedents, showed repeated focal epileptic crisis. Imaging studies (MR and CT) showed a solitary and well delimited tumour located in the frontral lobe. Once extirpated, the histological study revealed a neoplasm of myxoid and benign appearance, with elongated and uniform cells, with no atypias and a very low mitotic index. Immunohistochemisty studies (positivity for Vimentin and Epithelial Membrane Antigen, and negativity for the other markers) as well as physical and radiological examination of the patient (absence of tumours in any other location), suggested the diagnosis of a Myxoid Meningioma, which was confirmed by electron microscopy (by the presence of desmosomes). We also revise the characteristics of Myxoid Meningiomas, an absolutely exceptional primary tumour of the central nervous system.

Massive low-grade myxoid liposarcoma of the floor of the mouth:A case report and review of literature

BACKGROUND Oral liposarcoma is an extremely rare lesion that is often clinically misdiagnosed as a benign tumor due to its asymptomatic and indolent clinical course.Here,we report a case of massive low-grade myxoid liposarcoma(MLS)of the floor of the mouth.CASE SUMMARY A 71-year-old man presented with a huge mass in the left floor of the mouth.A biopsy was performed,and a diagnosis of a myxoid tumor suspicious for lowgrade MLS or myxoma was made.Gadolinium-enhanced T1-weighted magnetic resonance imaging showed an intensely enhanced tumor lesion that occupies the left sublingual space and extends to the submandibular space.Submandibular dissection,tumor resection,and reconstruction with a radial forearm flap were performed.The surgical specimen exhibited histologically low-grade MLS.Fused in sarcoma(FUS,also known as TLS)and DNA damage-inducible transcript 3(DDIT3,also known as CHOP)break-apart was not detected in the fluorescence in situ hybridization analysis.The tumor was completely encapsulated and did not require additional treatment.Furthermore,no recurrence was reported 40 mo after surgery.CONCLUSION We experienced an extremely rare,massive,low-grade MLS emerging from the floor of the mouth.Oftentimes,an MLS of the floor of the mouth lacks significant clinical findings and is often misdiagnosed.Although no FUS-DDIT3 fusion gene was detected,a low-grade MLS was ultimately diagnosed based on the histological findings.

Myxoid and Lipomatous Solitary Fibrous Tumor of Soft Tissue: A Case Description

We present a case of a myxoid and lipomatous solitary fibrous tumor that was observed in a 67-year-old man. The tumor, which had a maximum diameter of 10 cm, was located in the soft tissues of the dorsal region and appeared macroscopically well delimited and encapsulated. Upon cutting, a markedly gelatinous internal surface was observed. A microscopic study revealed an intense and diffusely myxoid neoplasia, with small areas of adipose aspect, in which histological (staghorn vessels, perivascular hyalinization, fusiform cells of benign aspect) and immunohistochemical (intensive positivity for CD34, Bcl-2 and Cd99 and negativity for muscle markers) data were consistent with a solitary fibrous tumor were observed. To conclude, the main characteristics of this lesion are discussed, and a differential diagnosis is established with other entities.

Gastrointestinal Stromal Tumor (GIST) with Chondroid-Myxoid-Chordoid Features Mimicking Extraskeletal Myxoid Chondrosarcoma

Epithelioid gastrointesinal tumors (GISTs) are less likely to have c-kit gene mutations (and express CD117) than spindle cell GISTs. CD117 negative/c-kit negative GISTs can have platelet-derived growth factor alpha (PDGFRα) gene mutations, overexpress PDGFRα protein and respond to imatinib mesylate. Many cases of CD117-negative/CD117-weakly positive, c-kit mutation negative and PDGFRα mutation positive myxoid epithelioid GISTs and one case of CD117-positive GIST with chondro-myxoid features mimicking chondrosarcoma have been reported. We report a case of myxoid epithelioid GIST with predominance of chondroid and chordoid areas resembling an extraskeletal myxoid chondrosarcoma that was strongly positive for CD117, PDGFRα and DOG1 (Discovered on GIST 1) by immunohistochemistry, but lacked c-kit and PDGFRα gene mutations. It is possible that CD117 is strongly positive if a myxoid epithelioid GIST has chondroid/chordoid appearance, but a larger study is needed to confirm this association. CD117 expression in GISTs is important, because GISTs showing CD117 positivity respond to imatinib. No comment can be made about the prognostic significance of chondroid/chordoid appearance in the GISTs.

Superficial Myxoid Liposarcoma of the Thigh

Myxoid liposarcoma is the most common form of myxoid sarcoma. Their primary and superficial localizations are very rare compared to the deeper forms. We report the case of myxoid liposarcoma in a 57-year-old patient. The clinical picture marked by painless swelling of the right thigh had evolved over a period of about ten years. The diagnosis was guided by ultrasound and magnetic resonance imaging. A pathological examination of the surgical specimen after removal of the tumor helped to clarify the diagnosis. We discuss the clinical presentation and therapeutic management.

Myxoid Degeneration of Ovarian Tumor in Young Patient,Laparoscopic Approach

Myxoid degeneration of ovarian tumors represents a rare distinctive benign ovarian stromal neoplasm that occurs predominantly in young women and is hormonally inactive.According to recent bibliography,pathogenesis remains controversial.Many conducted studies express the strong belief adjusting myxoid ovarian tumors with genetic abnormalities.Therapeutic mapping is associated with histologic confirmation of the lesion.In cases of premenopausal patients,fertility preservation consists of ultimate scope.Abdominal MRI(magnetic resonance imaging)along with transvaginal ultrasound can differentiate and depict all preoperative imaging findings.Myxoid degenerated ovarian tumors can be malignant transformed into myxoid leiomyosarcomas with extremely metastatic possibilities.Meticulous atomic history,proper laboratory and imaging findings reflect successful key concerning ultimate diagnosis and treatment.

Extraskeletal myxoid chondrosarcoma metastatic to the pancreas: A case report

Extraskeletal myxoid chondrosarcoma (EMC) is a lowgrade sarcoma characterized by developing metastases and local recurrence in high rate. It is mainly deep seated in the proximal extremities. The most common metastatic sites are the lungs, soft tissues, lymph nodes, bones and the brain. To our knowledge, no case of clearly defined EMC has been reported to date developing a metastasis in the pancreas. We describe a case of a man suffering from EMC who developed a single pancreatic metastasis 20 years after the initial diagnosis. A 49-year-old man was submitted to surgical excision of an EMC, in left thigh, 20 years ago. Fourteen years after the initial diagnosis a local recurrence in left thigh occurred. Multiple lesions of metastatic origin, in both lungs, were excised via thoracotomies until the time being. In 2003, as a part of a periodically performed imaging control, an abdominal CT scan was performed revealing a solid lesion in the pancreas. Distal pancreatectomy was performed. The histopathology of the excised specimen proved to be the one of metastatic lesion of EMC. The above-mentioned case of EMC is, as far as we know, the first one described developing a certain pancreatic metastasis.

Adrenal myelolipoma within myxoid cortical adenoma associated with Conn's syndrome

The coexistence of myelolipoma within adrenal cortical adenoma is extremely rare,for both tumors present usually as separate entities.There are only 16 such cases reported worldwide.To the best of our knowledge,the case we reported here is the first one of myxoid adrenal cortical adenoma associated with myelolipoma reported.A 32-year-old Chinese woman with 4-year history of hypertension was presented in our study.Computed tomography(CT)of the abdomen showed a large heterogene- ously-enhancing mass(4.5 cm in diameter)in the left suprarenal region.Clinical history and laboratory results suggest a metabolic disorder as Conn's syndrome.The patient underwent a left adrenalectomy,and a histopathological study confirmed the mass to be a myxoid adrenal cortical adenoma containing myelolipoma.The patient was postoperatively well and discharged uneventfully.In the present case report,we also discuss the etiology of simultaneous myelolipoma and adrenal adenoma associated with Conn's syndrome,and the methods of the diagnosis and differential diagnosis.

Myxoid adrenal cortical adenoma—the first case reported in China

Myxoid adrenal cortical adenoma is a rare tumor and till now only 9 cases have been presented in the world. We here report another case of myxoid adenoma of the adrenal gland in a 45-year-old Chinese man who was admitted to hospital because of the right adrenal mass and mild hypertension. At surgery, the mass was well-circumscribed, measured 3.3 cm in diameter. Light-microscopic findings showed most of the tumor region with myxoid stroma, and the tumor cells were benign-look- ing. Immunohistochemical study showed the tumor had the positivity for vimentin, synaptophysin, neuron specific endolase but negative with cytokeratin and epithelial membrane antigen. Moreover, it was negative with alpha-inhibin that is not in accordance with those reported. There was no finding corresponding to malignancy.

SEMYXOID ADRENOCORTICAL CARCINOMA PRESENTING AS CUSHING SYNDROME:ONE CASE REPORT

Myxoid change in adrenocortical carcinoma is a rare phenomenon,and no case has been reported in Chinese population to date.We report here a case of myxoid adrenocortical carcinoma presenting as Cushing syndrome with an immunohistochemical study of the tumor and discuss the diagnosis with reference to the current literature.

Myxoid adrenocortical adenoma： a case report

Myxoid adrenocortical adenomas are extremely rare .with only 24 cases reported, The first case wasreported by Tang et al in 1979 which was diagnosed as a myxoid adrenocortical carcinoma. Nearly all the reports were of single case except Brown et al who described a group of 14 cases. We report here an additional case of myxoid adrenocortical adenoma with an immunohistochemical study of the tumor and discuss the diagnosis with reference to the current literature.

Myxoid adrenal cortical tumor： report of four cases

Myxoid adrenocortical neoplasms are rare. Surgical resection of the mass is the first-line therapy. Here we reported a total of four patients, aged 44-66 years, diagnosed with myxoid adrenocortical tumor. The clinical characteristics and immunohistochemical features of the tumor are discussed in the current literature.

子宫黏液样平滑肌肉瘤1例

目的 探讨子宫黏液样平滑肌肉瘤(myxoid leiomyosarcoma, MLMS)的临床病理学特征。方法 对本院MLMS患者1例进行组织学观察、免疫组织化学分析并复习相关文献。结果 结合病理组织检查及免疫组织化学检查,确诊为MLMS。结论 MLMS是一种罕见的平滑肌肉瘤亚型,病理诊断主要依靠组织形态学特征及免疫组化明确。

先天性婴儿原始黏液样间叶性肿瘤术后复发1例并文献复习

目的:报告1例先天性原始黏液样间叶性肿瘤(primitive myxoid mesenchymal tumor of infancy,PMMTI),提高该病的认识。方法:回顾性分析1例先天性PMMTI患儿临床资料,并检索中英文数据库,对相关文献分析总结,归纳其临床特点。结果:本例患儿第1次行背部肿物切除术,术后病理明确诊断,未行基因检测,术后3个月复查原切口周再次发现背部肿物,并增长速度快,于术后4个月再次行背部肿物扩大切除术,病理提示瘤细胞较之前密度增高,异型性明显,核分裂易见,行BCOR基因荧光原位杂交检测阴性,未化疗,术后回访2年无瘤生存。检索文献筛选出先天性PMMTI患儿5例,结合本例,共6例纳入研究。其中,男3例,女3例,肿瘤平均直径7.1 cm,均行手术治疗,术后病理检查镜下均可见幼稚间叶细胞并均结合免疫组化诊断。3例术后复发再手术,均未行化疗,获得随访4例,2例短期内死亡,2例预后良好。结论:PMMTI是一种罕见的婴幼儿肉瘤,病理学结合免疫组化和分子生物学检测确诊,治疗方式以手术为主,具有高复发性,对于复发的先天性PMMTI术后建议化疗,PMMTI靶向治疗有待突破。

SMARCA4融合相关肉瘤的临床病理学及分子遗传学特征

目的探讨SMARCA4融合相关肉瘤的临床病理学及分子遗传学特征。方法回顾性分析2例SMARCA4融合相关肉瘤的临床病理学及免疫表型特征,采用二代测序技术分析分子遗传学特征。结果2例男童年龄分别为7岁(例1)及12岁(例2),病变部位为右侧睾丸及右侧腘窝,临床表现为右侧睾丸及右侧腘窝的无痛性占位,肿瘤最大径4.5~7.0 cm。镜检:低倍镜下2例瘤细胞均呈弥漫片状及交织束状排列,瘤细胞疏密不等,呈圆细胞样、上皮样及梭形,肿瘤性间质为黏液性及胶原样基质,均可见凝固性坏死,核分裂象均易见。例1以黏液样间质为主;例2以胶原化背景为主。免疫表型:2例具有肌源性分化,表达desmin和SMA;部分表达CD99;SMARCA2、SMARCA4(BRG1)、SMARCAB1(INI-1)、ARID1A、H3K27ME3表达均无缺失,Ki-67增殖指数分别为60%、20%。2例随访时间8~22个月,例1未见复发及转移,例2复发,出现可疑肺转移。2例均检测到SMARCA4融合,分别为SMARCA4-DOCK6融合及SMARCA4-VEZF1融合。结论SMARCA4融合相关肉瘤是一种罕见的恶性软组织肿瘤,分子特点为SMARCA4融合。

先天性黏液型隆突性皮肤纤维肉瘤一例并文献复习

先天性DFSP临床罕见,其临床表现可类似血管性病变。黏液型先天性隆突性皮肤纤维肉瘤(congenital dermatofibrosarcoma protuberans,DFSP)是DFSP独特而罕见的亚型,具有其特征性病理组织学改变,生物学行为属交界恶性/潜在低度恶性。先天性黏液型DFSP更为罕见,国外仅有2例散发病例报道。本文报道一例并回顾相关文献。患儿,女,1岁9个月。出生后即有背部肿物,曾于外院误诊为血管瘤,予盐酸噻吗诺尔眼药水外敷治疗1年余,效果不佳。肿物不断增大,就诊我科后,予手术切除肿物并行病理组织学及免疫组织化学检查,诊断为先天性黏液型隆突性皮肤纤维肉瘤。考虑病理回报底切缘最近距离仅0.25 mm,根据指南行肿瘤边缘1 cm扩大切除治疗,随访2年未发现复发及转移。

DDIT3免疫组织化学检测在黏液样脂肪肉瘤诊断中的意义

目的评估DNA损伤诱导转录因子3(DNA-damage inducible transcription 3,DDIT3)免疫组织化学检测诊断黏液样脂肪肉瘤的可靠性及在黏液样脂肪肉瘤诊断及鉴别诊断中的意义。方法收集山西省肿瘤医院2014至2021年经荧光原位杂交检测确诊的黏液样脂肪肉瘤病例42例作为实验组,并选取其他圆细胞肿瘤及高分化脂肪肉瘤共73例作为对照组。采用免疫组织化学染色检测实验组与对照组DDIT3表达水平,采用Wilcoxon符号秩检验进行统计学分析。结果在实验组中,35例(35/42,83%)病例显示DDIT3弥漫阳性定位于细胞核;在对照组中,16例(16/73,22%)病例存在不同程度的DDIT3表达;实验组中DDIT3表达水平显著高于对照组中圆细胞肿瘤组;DDIT3诊断黏液样脂肪肉瘤的灵敏度为83%,特异度为78%。结论DDIT3免疫组织化学检测可作为黏液样脂肪肉瘤诊断的辅助方法。