Case Report: Pazopanib Treatment Response in a Patient with Metastatic Pleomorphic Dermal Sarcoma (Atypical Fibroxanthoma) with Circulating Tumor Cell-Derived Colonies as a Predictive Marker

Atypical fibroxanthomas (AFX) are rare skin tumors. These generally are superficial tumors, usually <3 cm red, fleshy, ulcerated skin lesions, that characteristically occur on sun-damaged skin, sometimes in immunocompromised or previously irradiated patients. These are part of a spectrum of more aggressive fibro-histiocytic neoplasms. In the older literature, these have been termed aggressive or metastatic AFX, but currently these have been reclassified as pleomorphic dermal sarcomas (PDS) and systemic undifferentiated pleomorphic sarcoma (UPS, formerly malignant fibrohistiocytic sarcoma, MFH). We present the case of a 64-year old woman who developed a deeply invasive PDS on the vertex of her scalp invading to the galea, with in-transit scalp metastases. Very little information is available about optimal treatment of metastatic PDS lesions. The patient was initially treated with 2 cycles of epirubicin/ifosfamide chemotherapy, resulting in life-threatening complications. A pretreatment peripheral blood sample was sent for CTC-derived colony assay. This sample grew 8 colonies from 10 ml blood. The tumor failed to respond to epirubicin and ifosfamide, and after several months of hospitalization, a second peripheral blood CTC-derived colony assay grew >376 colonies. The patient could not tolerate additional chemotherapy. She was therefore treated with the oral targeted agent pazopanib. The patient developed a dramatic biopsy-confirmed complete response. After 11 months of pazopanib treatment, a repeat CTC-derived culture sample grew only 8 colonies/10 ml blood. The complete response to pazopanib is still ongoing at over 41 months. To our knowledge, this is the first demonstration of clinical complete response of a PDS tumor following targeted therapy. An additional novel feature was the demonstration that CTC-derived colonies could be grown from the blood of a PDS patient. The number of colonies appeared to correlate with the clinical treatment response and seemed to function as a potential prognostic marker.

Atypical lipomatous tumor in the ligamentum teres of liver:A case report and review of the literature

A 61-year-old male was referred to our hospital with a three-month history of persistent epigastralgia and right hypochondralgia. Initial examination revealed a fist-size mass at the epigastric fossa. Ultrasonography showed a hemangioma and a mosaic echoic lesion in the ventromedian with poor blood-flow signal and linear hyperechoic part inside, and a clear border to the surroundings. Dynamic computed tomography revealed a highly enhanced effect from the portal-venous phase continuing to the equilibrium phase. T1-weighted gadolinium-ethoxybenzyl-diethylenetriamine pentaacetic acid-enhanced image revealed a high intensity effect at the early phase that continued to the next phase. On the other hand, it contained a low intensity area by a fat suppression of that image. In addition, a T2-weighted image did not show a high intensity effect. Laparotomy was performed on the second day of hospitalization. The tumor had arisen from the ligamentum teres of the liver, and no metastasis or invasion of other organs was noted. It consisted of a lipid component of mature adipocytes and a fibrous component of deep dyeing pleomorphic or multinuclear atypical stromal cells. Immunohistochemical study of the atypical stromal cells demonstrated that they were positive for MDM2 and CDK4. A pathological diagnosis of atypical lipomatous tumor(ALT) was made, and the patient was discharged on the eighth day following the procedure. At the 6-mo follow-up dynamic CT, the patient was free of recurrence or metastasis. We experienced a patient with ALT in the ligamentum teres of the liver. This case suggests the need for a careful and detailed examination when encountering patients presenting with a mass; when neoplastic lesion is confirmed by image inspection, we should thoroughly investigate, including further image investigations and pathologic examination. The latter is the most important.

Cure of Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System: A Case Report

Atypical teratoid/rhabdoid tumor (AT/RT) is an embryonic central nervous system tumor. It has a low incidence with a high degree of malignancy and a poor prognosis. Five years ago, we successfully treated a child with AT/RT. Treatment comprised total tumor resection, 6 MV X 3D conformal radiotherapy (DT: 36Gy/18FX) and six courses of chemotherapy, including teniposide 25 mg (qd × 5d), ACNU 25 mg (qd × 1d), vincristine 1 mg (qd × 1d). There was no tumor recurrence after 5 years of follow-up. We adjusted the previous AT/RT regimen to make it more suitable for the individual treatment of this patient, and now the patient has achieved a cure. So we think this regimen is effective and it is worthy of recommendation.

Heavily calcified gastrointestinal stromal tumors:Pathophysiology and implications of a rare clinicopathologic entity

Gastrointestinal stromal tumors(GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract, and are characterized by a broad spectrum of clinical, histological and molecular features at presentation. Although focal and scattered calcifications are not uncommon within the primary tumor mass, heavy calcification within a GIST is rarely described in the literature and the clinical-biological meaning of this feature remains unclear. Cases with such an atypical presentation are challenging and may be associated with diagnostic pitfalls. Herein, we report a gastric GIST with the unusual presentation of prominent calcifications that was identified incidentally on imaging during a post-trauma diagnostic work-up. The patient underwent laparoscopic surgery with a radical resection of the mass, which was subsequently characterized by histological analysis as spindle-shaped tumor cells, positive for CD117/c-KIT, CD34 and DOG1, and with calcified areas. Given the intermediate risk of recurrence, no adjuvant therapy was recommended andthe patient underwent regular follow-up for 22 mo, with no evidence of relapse. Our case can be considered of interest because of the rarity of clinical presentation and the uniquely large size of the GIST at diagnosis(longest diameter exceeding 9 cm). In closing, we discuss the pathophysiology and clinical implications of calcifications in GISTs by reviewing the most up-to-date relevant literature.

Ileocecal intussusception caused by two different tumors - which is the culprit lesion? A case report

BACKGROUND Ileocecal intussusception caused by two different tumors is rare,according to a literature review.We describe a case of a male patient with a cauliflower-like mass in the middle of the transverse colon observed by colonoscopy before surgery.It was considered to be intussusception caused by colon cancer.However,a substantial lipomatous mass was seen in the distal end of the intussusception by computed tomography before surgery,which posed a challenge in the preoperative diagnosis.CASE SUMMARY We report a 72-year-old male patient with intussusception.The patient underwent right hemicolectomy and cholecystectomy in our hospital on April 29,2019.During operation,the ileum was inserted into the ascending colon by about 15 cm,and a tumor with a diameter of approximately 3.0 cm was observed in the distal part of the intestine.An atypical liposarcoma/highly differentiated liposarcoma in the adipose tissue was suspected in the postoperative pathology,and a lipoma was diagnosed after MDM2 gene testing.A 4.0 cm×5.0 cm polypoid mass was seen immediately adjacent to the mass,and the postoperative pathology report suggested a high-level tubular adenoma.The patient was eventually cured and discharged with an uneventful follow-up.CONCLUSION Intussusception caused by two different types of masses is extremely rare.At present,surgery is the best treatment once intussusception is diagnosed.

Rare diaphragmatic tumor mimicking liver mass

Primary tumors of the diaphragm are quite rare. About 150 cases have been reported in the literature. Fibrosarcomas are the commonest malignant neoplasms of the diaphragm; however, only a few(less than 20) cases have been reported to date. We present the case of an extremely rare tumor of the diaphragm mimicking a liver mass. The patient, a young 28-year-old woman, presented with an 8-month-history of mildly progressive upper abdominal pain and early fullness after meals. Computed tomography scan of the abdomen revealed a mass located in the region of the left lobe of the liver with non visualized left lobe and partial vascular supply of the mass from the left hepatic artery. The tumor was also seen to draw its vascularity from bilateral internal mammary arteries. Surgical excision and hepatectomy was planned, keeping in mind the diagnosis of an atypical left hepatic mass. Laparotomy revealed a left diaphragmatic tumor growing caudally into the upper abdomen, compressing and splaying the liver along the left medial surface where the tumorwas virtually adherent to it. Successful excision of the mass and subsequent histopathological and immunochemistry examination of the specimen revealed low grade fibromyxoid sarcoma of the diaphragm. This case highlights the unusual presentation of a diaphragmatic mesenchymal tumor and how it can be mistaken as an atypical liver mass. It also emphasizes the tumoral vascular supply as an indicator of its organ of origin.

The Application and Indications for Sentinel Lymph Node Biopsy in Pediatric Solid Tumors: Current Status and Future Directions

Oncologic staging of many solid organ malignancies involves an understanding of how cancers spread via the lymphatic system, and ultimately may involve evaluation of the primary nodal drainage basin by performing a sentinel lymph node biopsy. In the adult population, there are well established indications for sentinel lymph node biopsy in diseases like melanoma and breast cancer. However, its use and relevance in the pediatric population is less defined. This review details the history and development of sentinel lymph node biopsy technique, advanced lymph node mapping techniques currently under investigation, and the applications of sentinel node biopsy towards childhood cancers.

Cystic tumors of the liver:A practical approach

Biliary cyst tumors(cystadenoma and cystadeno-carcinoma) are an indication for liver resection. They account for only 5% of all solitary cystic lesions of the liver,but differential diagnosis with multiloculated or complicated biliary cysts,atypical hemangiomas,hamartomas and lymphangiomas may be difficult. The most frequent challenge is to differentiate biliary cyst tumors from hemorrhagic cysts. Computerized tomography(CT) and magnetic resonance imaging(MRI) are often not diagnostic and in these cases fine needle aspiration(FNA) is used to confirm the presence of atypical biliary cells. FNA,however,lacks adequate sensitivity and specificity and should always be used in conjunction with imaging. Pre-operative differentiation of cystadenoma from cystadenocarcinoma is impossible and surgery must be performed if a biliary cyst tumor is suspected. When multiple cystic lesions are observed throughout the liver parenchyma,it is important to exclude liver metastasis,of which colonic cancer is the most common primary site. Multiple biliary hamartomas(von Meyenburg complex) can appear as a mixture of solid and cystic lesions and can be confused with cystic metastasis. Strong and uniform T2 hyperintensity on MRI is usually diagnostic,but occasionally a percutaneous biopsy may be required.

非典型Spitz肿瘤一例

本文报道一例非典型Spitz肿瘤,经组织病理及免疫组化确诊,给予外科手术完整切除,随访3年余未见复发及转移。

Iridociliary Body Metastasis of Atypical Carcinoid: Case Management with Intravitreal Anti-Vascular Endothelial Growth Factor Injections

We report a rare case involving a 52-year-old female diagnosed with an atypical bronchial carcinoid tumor with metastases to the mediastinum, hilar lymph nodes, breast, and pancreas. In additional, the patient had metastases to the iris and ciliary body, resulting in progressive vision loss in her left eye. Treatment was successful by intravitreal injections of anti-vascular endothelial growth factor.

Molecular targeted therapies for pediatric atypical teratoid/rhabdoid tumors

Atypical teratoid/rhabdoid tumors (AT/RTs) are lethal central nervous system tumors, which are primarily diagnosed in infants. Current treatments for AT/RTs include surgery, radiotherapy, and chemotherapy;these treatments have poor prognoses and challenging side effects. The pivotal genetic event in AT/RT pathogenesis comprises the inactivation ofSMARCB1 orSMARCA4. Recent epigenetic studies have demonstrated mutual and subtype-specific epigenetic derangements that drive tumorigenesis;the exploitation of these potential targets might improve the dismal treatment outcomes of AT/RTs. This review aims to summarize the literature concerning targeted molecular therapies for pediatric AT/RTs.

Clinicopathological features of atypical lipomatous tumors of the laryngopharynx

Atypical lipomatous tumor (ALT) of the laryngopharynx is rare.Here we report five cases to demonstrate their clinicopathological features.The patients were four males and one female,aged 41 to 69 years (median 53.6 years).All tumors (two in the hypopharynx and three in the larynx) presented as a slowly growing,painless mass.Symptoms included dysphagia (2/5),dysphonia (3/5),and the feeling of a foreign body in the throat (5/5).Tumors were well circumscribed or focally infiltrative,ranging from 2.0 to 5.0 cm (median,3.4 cm) in size,and microscopically showed the typical features of lipoma-like ALT.Immunohistochemically,tumor cells were stained with S-100,vimentin,murine double minute 2 (MDM-2),and cyclin-dependent kinase 4 (CDK4).Two patients had local tumor recurrences at 6 and 14 months after initial surgery during follow-up.ALT of laryngopharynx is an indolent tumor.Immunohistochemical staining for MDM-2 and CDK4 is helpful in pathological diagnosis.

儿童侧脑室非典型畸胎瘤样/横纹肌样瘤4例

非典型畸胎瘤样/横纹肌样瘤(atypical teratoid/rhabdoid tumor, AT/RT)临床少见且预后不良,多位于幕下或皮层下方,发生于侧脑室较为罕见且预后极差,目前国内仅有6例侧脑室AT/RT相关报道。本文报道4例儿童侧脑室AT/RT患儿的诊疗经过,并通过文献复习对该病的临床表现、鉴别诊断、治疗及预后进行讨论,以提高临床医生对该病的认识,减少漏诊及误诊发生率。

儿童颅内非典型畸胎样/横纹肌样瘤的临床分析

目的探讨颅内非典型畸胎样/横纹肌样瘤(AT/RT)的影像学特征、临床表现及病理特点以提高对AT/RT的诊断及治疗认识。方法回顾性分析郑州大学第一附属医院收治的10例AT/RT患儿的临床资料,检索国内外文献进行总结分析。结果10例AT/RT中<2岁的患儿6例(60%),>2岁的患儿4例(40%);镜下全切除4例,次全切除6例。其中2例>3岁的患者接受放化疗处理。所有患者随访2~12个月,所有患者在随访期内复查头颅MRI均不同程度原位复发,其中1例发生脑膜转移及椎管内转移,1例伴发肺部转移,2例因原位复发和脑内转移而再次手术。结论AT/RT临床发病率低,临床多以颅内压增高为主要表现,治疗方法为手术联合放化疗,诊断仍依赖病理诊断,目前仍无标准放化疗方案,该肿瘤恶性程度高,易复发,预后差,病死率高。

Atypical Renal Cysts: Is MRI a Compulsory Examination in 2020 before Therapeutic Management?

Introduction: Kidney cancer represents 2% to 3% of malignant tumors, with an incidence of 5.8/100,000 in Western countries, a very specific subgroup of renal tumors that are cystic tumors. In fact, almost 50% of the population over 50 has a renal cyst. Materials and Methods: The objective of this study is to establish a correlation between the preoperative Bosniak score and the postoperative anatomopathological analysis in order to answer this question, the use of contrast ultrasound or MRI should be systematically performed before an atypical renal cyst? This is a retrospective study of 50 patients treated for renal cysts between January 2010 and March 2016. All patients have an abdominopelvic ultrasound and an abdominal scanner. Cysts have been classified according to the Bosniak classification. We treated our patients based on the radiological examination urocsanner and we classified our patients according to the classification of Bosniak, and uro MRI was performed in cases of atypical cysts or diagnostic doubt before considering a therapeutic attituderding to the classification of Bosniak. Results: In our work, the Uro MRI was sharper for atypical cysts (type IIF and Type III cyst) with sensitivity greater than that of the scanner but with a specificity similar to that of the scanner. And therefore be a key examination in the atypical kidney cysts. Conclusions: URO MRI is currently in 2020 a key examination of atypical bonsiak IIf and III cysts before management of the therapeutic load.

Spitz痣一例及Spitz样肿瘤文献复习

Spiz样肿瘤是一组由梭形及上皮样细胞组成的黑素细胞肿瘤,其3种亚型(Spiz痣、不典型Spitz肿瘤和Spitz痣样黑素瘤)间的鉴别诊断是一大难点。本文报道1例Spitz样肿瘤患者,通过复习文献并梳理3种不同分型在临床表现、组织病理及免疫组化等方面的鉴别要点,最终将其诊断为Spitz痣。手术完整切除并随访6个月,未见复发。

Atypical Endometriosis:a Clinicopathologic Study of 163 Cases

OBJECTIVE To investigate the clinicopathologic features of atypical endometriosis(AEM),and to discuss the relations between AEMs and tumors. METHODS A retrospective analysis was performed on 163 cases of AEMs.The changes in the glandular epithelium,stroma,and their background and the relationship with coexisting tumors were observed. RESULTS The AEMs account of for 4.4%(163/3,724)of the endometriosis(EM)cases.Of 172 AEM foci of 163 patients,168 were in the ovary,and the other 4 were in the fallopian tube,cervix and uterine serosa.Of the cases of ovarian EM,6.8%were AEM.All of the 27 cases(15.7%)of the AEMs associated with a tumor were found in the ovaries,of which 15 were malignant, 9 borderline,and 3 benign.Of the ovary AEMs,14.9%were associated with a borderline or malignant tumor.The AEM epithelia were mainly arranged in the form of surface epithelia,with only a few glands.Present were characteristic features of moderate to marked pleomorphism,epithelial tufting,bud or firework-like structures on microscopy.Epithelial metaplastic changes were observed in 86 cases(50%)of the 172 AEM foci.Epithelium,endometrioid stroma,and fibrotic-col agen formed a three-layer structure in the wal of the AEM cysts.The endometrioid stroma were usually thin compared to the fibro-collagen tissue.The transformation from an AEM to a tumor was found in most of the malignant tumors. CONCLUSION AEM lesions have some features which are similar and also differ from both of the tumor and EM.AEMs have a relative higher potential for tumorigenesis and canceration,especial y for ovarian cancer. The process of damage,repair,and scarring in EM foci over a long period may play a role in the development of EM into AEM and eventally into tumor formation.

成人鞍区非典型畸胎样/横纹肌样瘤一例

目的总结成人鞍区非典型畸胎样/横纹肌样瘤(AT/RT)的临床及病理特征,提高该病的诊断和治疗水平。方法回顾性分析阜阳市第二人民医院神经外科2019年7月收治的1例成年鞍区占位的手术及治疗过程。结果行经鼻蝶显微镜下全切除肿瘤,术后第4天出现头痛症状,经CT检查证实肿瘤在术后1周内复发且肿瘤体积明显大于术前。术后病理报告显示肿瘤Ki-67(+),高达80%,仅提示鞍区恶性肿瘤;在术后第24天做出AT/RT(成人变异性)、INI-1缺失的病理诊断。结论成人鞍区AT/RT为神经外科罕见疾病,临床及影像检查均无特异性,具有恶性程度高、术后生存期短等特点,目前尚未引起国内神经外科同道及病理学专家重视。

成人枕叶非典型脉络丛乳头状瘤术后复发为脉络丛癌1例报告并文献复习

目的 分析成人枕叶非典型脉络丛乳头状瘤(ACPP)术后复发为脉络丛癌(CPC)患者的临床表现、影像学特点和治疗方法。方法 回顾性分析1例成人脑枕叶ACPP术后复发为CPC患者的临床资料,并复习相关文献。结果 头颅MRI平扫及增强扫描示:右侧枕叶侧脑室后角旁见大小约3.4 cm×4.5 cm×4.5 cm(左右×前后×上下)占位,呈不规则块状,等T_(1)、T_(2)信号,边缘见短T_(1)、T_(2)信号,周边伴有稍长T_(1)、T_(2)信号,DWI呈局部高信号,T_(2)Flair呈周围高信号,增强后病灶明显强化,其内见无强化区。气管插管全身麻醉下行枕叶占位显微镜下全切,术中见部分肿瘤组织侵犯侧脑室枕角。术后病理结果示:枕叶肿瘤组织为CPC,WHOⅢ级,侵犯侧脑室肿瘤组织为脉络丛乳头状瘤(CPP),WHO I级。术后接受瘤腔放射治疗,随访1.5 a无复发。结论 脑实质内CPC是一种高度恶性肿瘤,是ACPP术后的原位复发,无特殊临床表现及影像学特征。病理学为诊断“金标准”,手术切除联合局部放疗是可能有效的治疗方法。

环保型组织样本制备液在不同脂肪细胞检测中的应用价值

背景:当前使用的传统试剂(甲醛溶液固定、乙醇脱水、二甲苯透明脱蜡)对组织前期处理制作的常规石蜡切片质量较低,已成为制约脂肪细胞性肿瘤病理诊断的瓶颈。而且,传统试剂容易对实验室环境造成污染,对实验室人员造成多种健康危害。目的:探讨环保型组织样本制备液在脂肪细胞肿瘤苏木精-伊红染色及非典型性脂肪瘤性肿瘤/高分化脂肪肉瘤MDM2基因检测中的应用价值。方法:选取2016年2月至2022年7月期间592例脂肪细胞肿瘤标本为研究对象,同一标本对半切开,按照所使用的标本前期处理试剂的不同,随机分为2组:传统组和环保组。传统组使用传统试剂甲醛溶液固定、乙醇脱水、二甲苯透明脱蜡制作常规石蜡切片592张;环保组使用环保型组织样本制备液制作切片592张。依据切片苏木精-伊红染色质量的不同等级,比较两组切片的苏木精-伊红染色优良率;进一步对其中病理确诊为非典型性脂肪瘤性肿瘤/高分化脂肪肉瘤的33例标本再次切片后,使用荧光原位杂交法检测MDM2基因,比较两组切片MDM2基因扩增率的差异。结果与结论:(1)相对于传统组,环保组的脂肪细胞肿瘤的组织切片更舒展、更完整,细胞无折叠,染色更清晰,红蓝对比度更佳,细胞结构更致密;(2)环保组的组织切片苏木精-伊红染色优良率高于传统组,差异有显著性意义(P=0.000);(3)相对于传统组,环保组的MDM2探针和CSP12探针仅在标本染色体特定的区域内结合,更具特异性;(4)环保组杂交成功细胞数高于传统组,差异有显著性意义(P=0.000);(5)传统组和环保组的MDM2基因信号数、MDM2/细胞值、CSP12信号数、CSP12/细胞值、MDM2/CSP12值之间的差异无显著性意义(P>0.05);(6)两组MDM2基因扩增率比较,差异无显著性意义(P=0.31);(7)结果表明,环保型组织样本制备液有利于提高脂肪细胞肿瘤的苏木精-伊红染色优良率,保证了非典型性脂肪瘤性肿瘤/高分化脂肪肉瘤MDM2基因的检测质量,有临床推广使用的价值。