Mesenchymal tumors

间充质肿瘤
  • 文章类型: Case Reports
    胃肠道间质瘤(GIST)是胃肠道(GI)最常见的间质瘤,通常起源于Cajal的间质细胞。临床表现根据其大小和形状而变化,但很少表现为可触及的腹部肿块。胰腺假性囊肿是慢性胰腺炎的常见并发症,其特征是由纤维和肉芽组织的非上皮化壁包围的液体聚集。患者可能会出现非特异性症状,如腹痛,恶心,和呕吐,他们通常有急性胰腺炎病史。小假性囊肿常自发消退,但较大的往往会出现症状,并可能导致并发症。在同一患者中很少发现胃的GIST和胰腺的假性囊肿。我们介绍了一名72岁男性的巨大GIST和胰腺假性囊肿的独特病例,该男性正在经历腹痛和腹胀。影像学显示一个源自胃后壁的巨大病变,类似于假性囊肿,与胰腺体相邻的明显囊性病变。在手术探查期间,发现了两种病理的复杂相互作用,需要全面的切除方法。成功的结果突出了在这种罕见情况下仔细评估和个性化管理的重要性。
    Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal (GI) tract, typically originating from the interstitial cells of Cajal. The clinical presentations are variable according to their size and shape but rarely present as a palpable abdominal mass. Pancreatic pseudocysts are common complications of chronic pancreatitis characterized by fluid collections surrounded by a non-epithelialized wall of fibrous and granulation tissue. Patients may present with non-specific symptoms like abdominal pain, nausea, and vomiting and they generally have a history of acute pancreatitis. Small pseudocysts often resolve spontaneously, but larger ones often become symptomatic and may lead to complications. It is rare to find both a GIST of the stomach and a pseudocyst of the pancreas in the same patient. We present a unique case of a giant GIST and a pancreatic pseudocyst in a 72-year-old male who was experiencing abdominal pain and distension. Imaging revealed a massive lesion originating from the posterior gastric wall, which resembled a pseudocyst, along with a distinct cystic lesion adjacent to the pancreatic body. During surgical exploration, a complex interplay of both pathologies was discovered, requiring a comprehensive resection approach. The successful outcome highlights the importance of careful evaluation and personalized management in such rare cases.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    我们介绍了一个巨大的孤立性纤维瘤(SFT)的病例报告,并回顾了文献,并讨论了其生物学特征和诊断。一名43岁的男子因腹痛和腹胀来到我们的急诊科,经历了两天的演变。对比增强计算机断层扫描(CT)显示,位于胰头的界限良好的半固体肿块(12cmx10cmx12cm)。经内镜超声引导下经十二指肠肿瘤活检细针穿刺获得的组织学诊断为增生的短梭形细胞,提示低度的间充质瘤形成。我们进行了Whipple手术技术。切除肿瘤的组织病理学研究证实,组织中的梭形细胞增殖,在10个高功率场(HPF)中观察到一个有丝分裂图。CD34和STAT-6的免疫染色呈阳性。组织学诊断为恶性胰腺SFT。在手术后的六个月里,病人没有反复发作的疾病。术前诊断困难,需要全面的证据,包括临床,免疫组织化学,和组织学特征。由于目前没有公认的最佳做法,我们建议全手术切除和仔细的临床监测。
    We present a case report of a giant solitary fibrous tumor (SFT) with a review of the literature and discuss its biological features and diagnosis. A 43-year-old man presented to our emergency department with abdominal pain and distension with an evolution of two days. Contrast-enhanced computed tomography (CT) showed a large, well-circumscribed semisolid mass (12 cm x 10 cm x 12 cm) localized in the pancreatic head. The histological diagnosis obtained by endoscopic ultrasound-guided trans-duodenal tumor biopsy with fine-needle aspiration showed proliferating short spindle-shaped cells, suggesting a mesenchymal neoplasia of low grade. We proceeded to a Whipple surgical technique. The histopathological study of the resected tumor confirmed proliferating spindle-shaped cells in the tissue, and one mitotic figure was observed in 10 high-power fields (HPFs). Immunostaining was positive for CD34 and STAT-6. The histological diagnosis was a malignant pancreatic SFT. In the six months posterior to the surgical procedure, the patient has been free of recurrent disease. Preoperative diagnosis is difficult and requires comprehensive evidence including clinical, immunohistochemistry, and histological features. Since there are currently no recognized best practices, we advise total surgical excision and careful clinical monitoring.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    纤维瘤,也被称为侵袭性纤维瘤病,代表一种罕见的成纤维细胞增殖形式。这些肿瘤可能出现在整个身体的任何肌肉筋膜结构中。由于几个独特的特征,它们被归类为良性的:组织学上,它们表现出规则的有丝分裂活性,并且没有转移潜力。计算机断层扫描(CT)仍然是精确诊断的最终方式,强烈建议手术切除。此帐户详细介绍了位于31岁女性患者前腹壁的硬纤维状肿瘤的表现,该患者明显缺乏任何先前的手术干预措施。手术干预需要切除肿瘤并随后使用聚丙烯网片重建腹壁。术后,病人在三天后从医疗机构获释,没有经历术后并发症。随后是六个月的间隔,没有任何不良事件。
    Desmoid tumors, also referred to as aggressive fibromatosis, represent an uncommon form of fibroblastic proliferation. These neoplasms may arise within any musculoaponeurotic structure throughout the body. They are classified as benign due to several distinctive features: histologically, they exhibit regular mitotic activity and are devoid of metastatic potential. Computed tomography (CT) remains the definitive modality for precise diagnosis, and surgical excision is strongly advised. This account details the manifestation of a desmoid tumor located in the anterior abdominal wall of a 31-year-old female patient who notably lacks any prior surgical interventions. The surgical intervention entailed the excision of the neoplasm and subsequent reconstruction of the abdominal wall utilizing a polypropylene mesh. Postoperatively, the patient was released from the medical facility after a period of three days, having experienced no post-surgical complications. This was followed by a six-month interval free of any adverse events.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    据报道,在一组具有激酶结构域重复(EGFR-KDD)和外显子20突变的肌纤维母细胞性病变中,EGFR畸变被分配给婴儿纤维肉瘤(IFS)。中胚层肾瘤和婴儿期纤维性错构瘤(FHI),分别。在这项回顾性研究中,我们对14个由NGS鉴定的具有这种遗传变化的肌纤维母细胞性病变的组织形态学研究进行了相关分析.我们还进行了DNA甲基化分析(DNAMP)和免疫组织化学。病变来自10名男性和4名女性,平均年龄为3岁(范围,0.3-14),并在上肢皮下发生(n=5),下肢(n=3),背部/胸部(n=5),和鼻腔(n=1)。11人经手术治愈,包括一例复发病例。两名患者失访。一个案例是最近发生的,对病人进行了活检。组织学上,病变范围广泛,从经典FHI(n=9)到IFS(n=1),从脂纤维瘤病样肿瘤(LFT样)(n=2)或隆突样皮肤纤维肉瘤(DFSP样)(n=1)到主要为黏液样梭形细胞病变(n=1).免疫组织化学,所有肿瘤均被CD34染色,而S100在2/14中呈阳性。在9/10例中观察到EGFR表达。分子上,IFS和一个类似LFT的EGFR-KDD,虽然在所有FHI中都鉴定出外显子20突变,一个LFT样和DFSP样且主要是粘液样梭形细胞病变。由DNAMP,除了两个案例之外,所有案例都形成了一个定义明确的集群,证明这些病变也是表观遗传相关的。总之,在FHI中发现的EGFR激酶结构域畸变,IFS,LFT-like,儿童和青少年的DFSP样和具有主要粘液样基质的梭形细胞病变表明,这些具有广泛形态谱的肿瘤属于具有明显表观遗传特征的蛋白激酶相关病变组。分子分析,包括DNAMP,帮助识别和表征这一新兴类别,并在考虑靶向治疗时成为强制性的。
    EGFR aberrations are reported in a subset of myofibroblastic lesions with kinase domain duplication (EGFR-KDD) and exon 20 mutations being assigned to infantile fibrosarcomas (IFS), mesoblastic nephroma, and fibrous hamartoma of infancy (FHI), respectively. In this retrospective study, we correlated molecular findings with the histomorphology of 14 myofibroblastic lesions harboring such genetic changes identified by NGS. We additionally performed DNA methylation profiling (DNAmp) and immunohistochemistry. Lesions were from 10 males and 4 females with a mean age of 3 years (range, 0.3-14) and occurred subcutaneously in the upper limbs (n = 5), lower limbs (n = 3), back/thorax (n = 5), and the nasal cavity (n = 1). Eleven were cured by surgery, including 1 relapsed case. Two patients were lost to follow-up. One case was very recent, and the patient was biopsied. Histologically, the lesions showed a wide spectrum varying from classic FHI (n = 9) to IFS (n = 1) or lipofibromatosis-like tumors (LFT-like) (n = 2) or dermatofibrosarcoma protuberans-like (DFSP-like) (n = 1) to a predominantly myxoid spindle cell lesion (n = 1). Immunohistochemically, all neoplasms stained with CD34, whereas S100 was positive in 2/14. EGFR expression was observed in 9/10 cases. Molecularly, the IFS and 1 LFT-like harbored EGFR-KDD, whereas an exon 20 mutation was identified in all FHI, 1 LFT-like, the DFSP-like, and in predominant myxoid spindle cell lesion. By DNAmp, all but 2 cases formed a well-defined cluster, demonstrating that these lesions are also epigenetically related. In conclusion, EGFR kinase domain aberrations found in FHI, IFS, LFT-like, DFSP-like, and a spindle cell lesion with a predominant myxoid stroma of children and adolescents showed that these neoplasms with a broad morphologic spectrum belong to the group of protein kinase-related lesions with a distinct epigenetic signature. Molecular analyses, including DNAmp, help to identify and characterize this emerging category and become mandatory when targeted treatment is considered.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Case Reports
    该病例报告介绍了一名42岁女性的临床细节,该女性以前没有医学问题,该女性表现为以黑素性粪便为特征的上消化道出血(UGIB)。初步检查显示轻度贫血,随后的内窥镜检查发现4厘米的粘膜下胃肿块显示近期出血指标。随后的手术病理证实2级高级别胃肠道间质瘤(GIST),复发风险增加。这种情况的意义在于强调在UGIB的鉴别诊断中考虑GIST的必要性。特别是在没有可识别的危险因素的中年人中,例如近期或慢性非甾体抗炎药(NSAID)的使用,消化性溃疡疾病,或报警症状。早期发现和及时手术干预在提高患者预后方面至关重要。虽然完全切除是治疗的基石,建议高危患者使用伊马替尼辅助治疗,以降低复发风险.
    This case report presents the clinical details of a 42-year-old female without previous medical issues who presented with upper gastrointestinal bleeding (UGIB) characterized by melanotic stools. Initial examination revealed mild anemia and subsequent endoscopy identified a 4 cm submucosal gastric mass displaying recent bleeding indicators. Subsequent surgical pathology confirmed a high-grade gastrointestinal stromal tumor (GIST) of grade 2 with a heightened risk of recurrence. The significance of this case lies in underscoring the necessity of considering GIST in the differential diagnosis of UGIB, particularly among middle-aged individuals with no identifiable risk factors such as recent or chronic non-steroidal anti-inflammatory drug (NSAID) use, peptic ulcer disease, or alarm symptoms. Early detection and prompt surgical intervention assume paramount importance in enhancing patient outcomes. While complete resection stands as the cornerstone of treatment, adjuvant imatinib therapy is recommended for high-risk patients to mitigate the risk of recurrence.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    血管黏液瘤是一种罕见的间质瘤,发生在盆腔和会阴区域。膀胱血管黏液瘤诊断困难,因为它缺乏典型的体征和症状,依赖免疫化学。我们介绍了一名53岁患者在超声检查中偶然发现膀胱肿瘤的情况。经尿道完全切除后,病理报告导致血管粘液瘤诊断。6周后,继发性TURB,连同CT尿路图显示没有残余体积的证据。经尿道电切术是一种安全有效的治疗膀胱血管黏液瘤的方法。
    Angiomyxoma is a rare mesenchymal tumor arising in the pelvic and perineal regions. Diagnosis of urinary bladder angiomyxoma is difficult, as it lacks typical signs and symptoms, and relies on immunochemistry. We present the case of a 53 year old patient presenting with an incidental finding of bladder tumor during an ultrasound. After a complete transurethral resection was performed, the pathology report led to angiomyxoma diagnosis. After 6 weeks a secondary TURB, along with a CT urogram showed no evidence of residual volume. Transurethral resection seems to be a safe and effective treatment of urinary bladder angiomyxoma.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    胃肠道神经鞘瘤是罕见的梭形细胞肿瘤,占间充质肿瘤的2-6%。在CT扫描和结肠镜检查中发现一名老年男性有左结肠肿块,并伴有纤维化组织病理。进行了腹腔镜辅助的左半结肠切除术和原发性吻合。病理显示梭形细胞肿瘤排列在短的束中,对S100呈强烈和弥漫性阳性。在近端横结肠的结肠镜检查中,发现一名老年女性有粘膜下病变。大型镊子活检显示梭形细胞肿瘤S100阳性。患者接受了简单的有限的非肿瘤节段性横结肠切除术。我们仅报道了文献中描述的横结肠中的第9例和第6例。正如其他间充质肿瘤一样,粘膜活检通常不确定,需要进行深层活检或粘膜下切除术,使术前手术决策困难。
    Schwannomas of the gastrointestinal tract are rare spindle cell tumors that account for 2-6% of mesenchymal tumors. An elderly male was found to have a left colon mass on CT scan and colonoscopy with pathology of fibrotic tissue. A laparoscopic-assisted left hemi-colectomy with primary anastomosis was performed. Pathology demonstrated spindle cell neoplasm arranged in short fascicles that were strongly and diffusely positive for S100. An elderly female was found to have a submucosal lesion on surveillance colonoscopy in the proximal transverse colon. Biopsy with jumbo forceps revealed spindle cell neoplasm positive for S100. Patient underwent an uncomplicated limited non-oncologic segmental transverse colectomy. We report only the ninth case of left and sixth in the transverse colon described in the literature. As is true for other mesenchymal tumors, mucosal biopsy is usually inconclusive and deep biopsy or submucosal resection is required, making pre-operative surgical decision difficult.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    神经c细胞的胚胎发育和随后的组织分化受到特定转录因子的复杂调节。其中,SOX10是SOX基因家族的一员,站出来。SOX10基因位于染色体22q13上,编码对分化至关重要的转录因子,迁移,和维持神经c细胞来源的组织。它在发育各种组织中起着关键作用,包括中枢和周围神经系统,黑素细胞,软骨细胞,和成牙本质细胞.SOX10的突变与Waardenburg-Shah综合征等先天性疾病有关,PCWH综合征,和Kallman综合征,强调其临床意义。此外,SOX10与神经和神经外胚层肿瘤有关,比如黑色素瘤,恶性周围神经鞘瘤(MPNSTs),和神经鞘瘤,影响扩散等过程,迁移,和差异化。在间质肿瘤中,SOX10表达作为区分不同肿瘤类型的有价值的标志物。此外,SOX10已在各种上皮肿瘤中被鉴定,包括乳房,卵巢,唾液腺,鼻咽,和膀胱癌,表现为潜在的诊断和预后标志物。然而,尽管有这些联系,进一步的研究对于阐明其在这些恶性肿瘤中的确切作用至关重要.
    The embryonic development of neural crest cells and subsequent tissue differentiation are intricately regulated by specific transcription factors. Among these, SOX10, a member of the SOX gene family, stands out. Located on chromosome 22q13, the SOX10 gene encodes a transcription factor crucial for the differentiation, migration, and maintenance of tissues derived from neural crest cells. It plays a pivotal role in developing various tissues, including the central and peripheral nervous systems, melanocytes, chondrocytes, and odontoblasts. Mutations in SOX10 have been associated with congenital disorders such as Waardenburg-Shah Syndrome, PCWH syndrome, and Kallman syndrome, underscoring its clinical significance. Furthermore, SOX10 is implicated in neural and neuroectodermal tumors, such as melanoma, malignant peripheral nerve sheath tumors (MPNSTs), and schwannomas, influencing processes like proliferation, migration, and differentiation. In mesenchymal tumors, SOX10 expression serves as a valuable marker for distinguishing between different tumor types. Additionally, SOX10 has been identified in various epithelial neoplasms, including breast, ovarian, salivary gland, nasopharyngeal, and bladder cancers, presenting itself as a potential diagnostic and prognostic marker. However, despite these associations, further research is imperative to elucidate its precise role in these malignancies.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Review
    背景:恶性外周神经鞘瘤(MPNST)是一种极为罕见且侵袭性的肿瘤,关于其管理的文献有限。在这里,我们介绍了一系列手术管理的颅脑脊髓MPNSTs,分析他们的结果,并回顾文献。
    方法:我们回顾性回顾了2005年1月至2023年5月在我们机构治疗的经手术管理的原发性颅脊髓MPNSTs。患者人口统计学,肿瘤特征,并评估治疗结果.使用Frankel等级和Karnofsky表现评分量化神经功能。描述性统计,秩和检验,进行了Kaplan-Meier生存分析.
    结果:8例患者符合纳入标准(4例男性,4女)。演示时的中位年龄为38岁(范围15-67)。大多数肿瘤位于脊柱(75%),3例患者患有1型神经纤维瘤病。最常见的症状是感觉异常(50%)和视觉变化(13%)。中位肿瘤大小为3cm,大多数肿瘤为椭圆形(50%),边界清晰(75%)。六个肿瘤为高级别(75%),5例患者实现了大体全切除,其余3例患者进行次全切除。术后放化疗6例(75%),4例(50%),分别。5例(63%)发生局部复发,2例(25%)发生远处转移。中位总生存期为26.7个月。5例(63%)患者因复发死亡。
    结论:原发性颅脊髓MPNSTs是罕见的,具有积极的临床过程。早期诊断和治疗对于治疗这些肿瘤至关重要。在这个单中心的小队列研究中,最大切除,低度病理学,年龄(<30岁),辅助放疗与生存率改善相关。
    BACKGROUND: Malignant peripheral nerve sheath tumor (MPNST) is an exceedingly rare and aggressive tumor, with limited literature on its management. Herein, we present our series of surgically managed craniospinal MPNSTs, analyze their outcomes, and review the literature.
    METHODS: We retrospectively reviewed surgically managed primary craniospinal MPNSTs treated at our institution between January 2005 and May 2023. Patient demographics, tumor features, and treatment outcomes were assessed. Neurological function was quantified using the Frankel grade and Karnofsky performance scores. Descriptive statistics, rank-sum tests, and Kaplan-Meier survival analyses were performed.
    RESULTS: Eight patients satisfied the inclusion criteria (4 male, 4 female). The median age at presentation was 38 years (range 15-67). Most tumors were localized to the spine (75%), and 3 patients had neurofibromatosis type 1. The most common presenting symptoms were paresthesia (50%) and visual changes (13%). The median tumor size was 3 cm, and most tumors were oval-shaped (50%) with well-defined borders (75%). Six tumors were high grade (75%), and gross total resection was achieved in 5 patients, with subtotal resection in the remaining 3 patients. Postoperative radiotherapy and chemotherapy were performed in 6 (75%) and 4 (50%) cases, respectively. Local recurrence occurred in 5 (63%) cases, and distant metastases occurred in 2 (25%). The median overall survival was 26.7 months. Five (63%) patients died due to recurrence.
    CONCLUSIONS: Primary craniospinal MPNSTs are rare and have an aggressive clinical course. Early diagnosis and treatment are essential for managing these tumors. In this single-center study with a small cohort, maximal resection, low-grade pathology, young age (< 30), and adjuvant radiotherapy were associated with improved survival.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Review
    背景:甲状腺间质瘤极为罕见。我们报告了甲状腺中发生的12例间充质肿瘤的细胞形态学特征,并强调了其细胞学评估中遇到的诊断困难。
    方法:从5个大型机构的细胞病理学和外科病理学档案中检索具有FNA的甲状腺间质瘤。评估了每个病例的临床病理和细胞形态学特征。
    结果:在我们的搜索中发现了12例发生在甲状腺中的间充质肿瘤。患者年龄为28至84岁(中位数,60年)。这些病例发生在7名女性和5名男性中。肿瘤大小为1.4至14厘米(中位数,3.3厘米)。肿瘤如下:血管瘤(n=4;33.3%),血管肉瘤(n=2;16.7%),神经鞘瘤(n=2;16.7%),孤立性纤维瘤(n=2,16.7%),转移性滑膜肉瘤(n=1,8.3%)和转移性多形性横纹肌肉瘤(n=1,8.3%)。肿瘤的细胞形态学特征与发生在不同部位的肿瘤相似。在6例原发性甲状腺间质病例(60%)中获得了准确的诊断。5例患者(41.7%)接受了甲状腺全切除术,3例患者接受部分甲状腺切除术(25%)。3例患者(25%)未接受甲状腺切除术,1例(8.3%)未获得后续手术信息。
    结论:甲状腺间质瘤极为少见。由于与各种上皮和非上皮甲状腺病变的形态学重叠,这些肿瘤的细胞学诊断通常具有挑战性。辅助研究如免疫组织化学和分子研究对于准确诊断至关重要。
    BACKGROUND: Mesenchymal tumors of the thyroid gland are extremely rare. We report the cytomorphologic characteristics of 12 mesenchymal tumors occurring in the thyroid gland and highlight the diagnostic difficulties encountered in their cytologic evaluation.
    METHODS: The cytopathology and surgical pathology archives from 5 large institutions were searched for thyroid mesenchymal tumors that had an FNA available for review. Clinicopathologic and cytomorphologic characteristics for each case were evaluated.
    RESULTS: Twelve cases of mesenchymal tumors occurring in the thyroid were identified in our search. Patient age ranged from 28 to 84 years (median, 60 years). The cases occurred in 7 women and 5 men. The tumor size ranged from 1.4 to 14 cm (median, 3.3 cm). The tumors were as follows: hemangioma (n = 4; 33.3%), angiosarcoma (n = 2; 16.7%), schwannoma (n = 2; 16.7%), solitary fibrous tumor (n = 2, 16.7%), metastatic synovial sarcoma (n = 1, 8.3%) and metastatic pleomorphic rhabdomyosarcoma (n = 1, 8.3%). The cytomorphologic features of the tumors were similar to those of their counterparts occurring in different sites. An accurate diagnosis was achieved in six primary thyroid mesenchymal cases (60%). Five patients (41.7%) underwent total thyroidectomy, and 3 patients received partial thyroidectomy (25%). Three patients (25%) did not receive a thyroidectomy and subsequent surgical information was not available in 1 case (8.3%).
    CONCLUSIONS: Mesenchymal tumors of the thyroid are extremely uncommon. Cytologic diagnosis of these tumors is often challenging due to the morphologic overlap with diverse epithelial and non-epithelial thyroid lesions. Ancillary studies such as immunohistochemistry and molecular studies are essential for accurate diagnosis.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

公众号