Extra Renal Rhabdoid Tumor: A Rare Cause of Congenital Soft Tissue Tumor

Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.

The Rhabdoid Tumor of the Kidney in Children—Cases Report

Teratoid rhabdoid tumors are highly malignant, rare and aggressive. The prognosis is very poor, with a pejorative and rapidly lethal evolution. The objective of this study was to show diagnostic and therapeutic approach through the report of four observations of rhabdoid tumor of the kidney in children, treated in the oncology unit at the pediatric department CHU Hassan II Fez Morocco, collected over a period of 10 years. The ages of the patients varied from 8 months and 5 and a half, with 3 girls and a boy. All children have abdominal distention with the discovery of a mass on clinical examination. The patients were treated as nephroblastoma by neoadjuvant chemotherapy followed by enlarged total nephrectomy. The pathological study confirmed the diagnosis of a teratoid rhabdoid tumor. Adjuvant chemotherapy was given in all four children combined with radiotherapy in three cases. The evolution was fatal in three children. Malignant rhabdoid tumors are a particular pathological entity requiring a well codified therapeutic protocol to improve survival which does not exceed 15% to 20%.

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.

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 study and diagnosis of rhabdoid tumor of kidney combined with metanephric adenoma

Rhabdoid tumor of kidney （RTK） is a highly malignant tumor that occurs in infants and children, and approximately 80% of patients are diagnosed in the first two years of life. It was firstly described in 1978, and was defined as an independent disease in 1981. In the reported literatures, there were less in adolescents and extremely rare in adults.

Desmoplastic small round cell tumor with atypical immunohistochemical profile and rhabdoid-like differentiation

Desmoplastic small round cell tumor(DSRCT) is a rare,aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epithelial, mesenchymal and neural markers simultaneously. We describe a case of DSRCT with an atypical immunohistochemical profile and rhabdoid-like tumor cells on electron microscopy. In the present case, the neoplastic cells were positive only for vimentin, desmin(cytoplasmic membranous pattern) and CD56,and negative for smooth muscle actin, synaptophysin,CD117, CD45, myogenin, CAM5.2, pancytokeratin,WT1, EMA, CD99, neurofilament, CD34 and p53. Ki67 showed a low proliferative activity. Electron microscopy showed focal rhabdoid differentiation. However, INI-1(SNF-5/BAF47) demonstrated preservation of nuclear positivity in the neoplastic cells. Cytogenetic studies showed translocation t(11;22)(p13;q12) confirming an EWSR1-WT1 translocation characteristic for DSRCT, and t(1;15)(q11;p11.2) of unknown significance. This case is a diagnostic challenge because of atypical immunohistochemical profile and cytogenetic study is crucial in rendering the correct diagnosis.

Feeder-free differentiation of human iPSCs into natural killer cells with cytotoxic potential against malignant brain rhabdoid tumor cells

Natural killer(NK)cells are cytotoxic immune cells that can eliminate target cells without prior stimulation.Human induced pluripotent stem cells(iPSCs)provide a robust source of NK cells for safe and effective cell-based immunotherapy against aggressive cancers.In this in vitro study,a feeder-free iPSC differentiation was performed to obtain iPSC-NK cells,and distinct maturational stages of iPSC-NK were characterized.Mature cells of CD56^(bright)CD16^(bright)phenotype showed upregulation of CD56,CD16,and NK cell activation markers NKG2D and NKp46 upon IL-15 exposure,while exposure to aggressive atypical teratoid/rhabdoid tumor(ATRT)cell lines enhanced NKG2D and NKp46 expression.Malignant cell exposure also increased CD107a degranulation markers and stimulated IFN-γsecretion in activated NK cells.CD56^(bright)CD16^(bright)iPSC-NK cells showed a ratio-dependent killing of ATRT cells,and the percentage lysis of CHLA-05-ATRT was higher than that of CHLA-02-ATRT.The iPSC-NK cells were also cytotoxic against other brain,kidney,and lung cancer cell lines.Further NK maturation yielded CD56^(-ve) CD16^(bright)cells,which lacked activation markers even after exposure to interleukins or ATRT cells-indicating diminished cytotoxicity.Generation and characterization of different NK phenotypes from iPSCs,coupled with their promising anti-tumor activity against ATRT in vitro,offer valuable insights into potential immunotherapeutic strategies for brain tumors.

Modeling human brain rhabdoid tumor by inactivating tumor suppressor genes in induced pluripotent stem cells

Atypical teratoid/rhabdoid tumor(ATRT)is a rare childhood malignancy that originates in the central nervous system.Over ninety-five percent of ATRT patients have biallelic inactivation of the tumor suppressor gene SMARCB1.ATRT has no standard treatment,and a major limiting factor in therapeutic development is the lack of reliable ATRT models.We employed CRISPR/Cas9 gene-editing technology to knock out SMARCB1 and TP53 genes in human episomal induced pluripotent stem cells(Epi-iPSCs),followed by brief neural induction,to generate an ATRT-like model.The dual knockout Epi-iPSCs retained their stemness with the capacity to differentiate into three germ layers.High expression of OCT4 and NANOG in neurally induced knockout spheroids was comparable to that in two ATRT cell lines.Beta-catenin protein expression was higher in SMARCB1-deficient cells and spheroids than in normal Epi-iPSC-derived spheroids.Nucleophosmin,Osteopontin,and Ki-67 proteins were also expressed by the SMARCB1-deficient spheroids.In summary,the tumor model resembled embryonal features of ATRT and expressed ATRT biomarkers at mRNA and protein levels.Ribociclib,PTC-209,and the combination of clofilium tosylate and pazopanib decreased the viability of the ATRT-like cells.This disease modeling scheme may enable the establishment of individualized tumor models with patient-specific mutations and facilitate high-throughput drug testing.

Clinicopathologic characteristics of prostatic stromal sarcoma with rhabdoid features: A case report

BACKGROUND Prostatic stromal sarcoma presenting with rhabdoid features is extremely rare,and only four cases have been reported in the English-language literature to date.Accordingly, there is no absolute definition of this group of tumors as yet, and our overall understanding of its morphological features, therapeutic regimen and prognosis is limited.CASE SUMMARY A 34-year-old male patient was referred to our hospital to address a 2-mo history of hematuria and progressive dysuria. Pelvic computed tomography scan revealed a 6.0 cm × 5.2 cm × 7.2 cm mass in the prostate, with bladder invasion.The patient underwent transurethral prostatectomy as upfront therapy. He refused further treatment and died of uncontrollable tumor growth 3 mo after surgery. Pathology analysis revealed the stroma to be pleomorphic, with a huge number of atypical spindle cells. Rhabdomyoblastic cells, with abundant eosinophilic cytoplasm, were detected. The spindle cells were positive for vimentin, INI1 and β-catenin, and the rhabdomyoblastic cells were positive for MyoD1, myogenin and INI1. The spindle cells and epithelial cells were sporadically positive for P53.CONCLUSION The prostatic stromal sarcoma tumor was immunoreactive for β-catenin,suggesting a role for the Wnt/β-catenin pathway in this tumor type.

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。

1例婴儿横纹肌样瘤易感综合征超声表现

患儿男,1个月,监护人发现其左大腿后侧根部肿物1周;否认家族史。查体:左大腿后侧根部隆起,触及4 cm×3 cm×4 cm质硬肿物,活动度欠佳,边界不清;局部皮肤无明显异常。实验室检查:神经元特异性烯醇化酶66.68 ng/ml;糖类抗原CA-153 11.14 ng/ml, 糖类抗原CA-125 5.57 ng/ml, 糖类抗原CA-199 14.32 ng/ml。

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。

AVDC/ICE方案治疗10例儿童颅外恶性横纹肌样瘤的临床疗效分析

目的探讨AVDC/ICE方案治疗儿童颅外恶性横纹肌样瘤(MRT)的疗效。方法对2020年1月至2023年1月接受AVDC/ICE方案治疗的10例颅外MRT患儿进行回顾性分析。结果10例颅外MRT患儿,男女发病比例为1∶1,中位发病年龄为24.5(1~138)月龄。3例患儿初诊时发生远处转移,最常见的转移部位是肺。初诊肿瘤平均大小为(9.87±5.42)cm。2例肾恶性横纹肌样瘤(MRTK)患儿术前出现肿瘤破溃。10例患儿明确病理后均接受AVDC/ICE方案化疗。截至末次随访时间,7例患儿处于完全缓解(CR)状态,1例患儿处于部分缓解(PR)状态,目前予贝伐珠单抗+索拉菲尼+环磷酰胺维持治疗中。2例肾外非中枢神经系统恶性横纹肌样瘤(EERT)患儿死于肿瘤转移。中位随访时间为14(5~28)个月,1年总体生存率(OS)为78.8%,1年无事件生存率(EFS)为68.6%。10例患儿治疗过程中均未发生与治疗相关的严重不良事件。结论AVDC/ICE方案是治疗儿童颅外MRT安全有效的化疗选择。

纵隔恶性横纹肌样瘤一例

本研究为回顾性研究,遵守《赫尔辛基宣言》,并经兰州大学第二医院伦理委员会审核批准,免除受试者知情同意,批准文号:2023A-356。患者男,16岁,自诉5个月前开始无明显诱因出现间断性颈部疼痛,可自行缓解,2个月前开始出现双上肢麻木,手指麻木明显,自觉影响写字、抓持等精细动作,以“脊髓肿瘤”收入院。专科查体:双上肢浅感觉减弱。

儿童肾恶性横纹肌样瘤的CT、MRI表现

目的探讨儿童肾恶性横纹肌样瘤的CT、MRI表现,以提高该病的影像诊断水平。方法回顾性分析上海市儿童医院2008年5月~2021年3月经病理证实8例肾恶性横纹肌样瘤的患者资料。7例患儿行CT平扫及增强检查,4例患儿行磁共振平扫及增强检查,观察分析肾恶性横纹肌样瘤体的部位、形态、大小、密度/信号特征、强化方式以及转移等。结果6例位于左肾,2例位于右肾,2例病变呈圆形或类圆形,6例为不规则形,6例累及肾窦、肾盂。CT平扫中5例呈稍高密度,2例呈等低密度,肿瘤最大径平均约8.6cm;2例合并出血,3例合并包膜下积液/积血,8例均合并囊变坏死。MRI平扫中4例T1WI呈低信号为主,3例T2WI呈稍高信号,1例T2WI呈混杂信号。2例病变DWI均呈明显高信号、相应ADC为低信号,提示病变弥散受限。增强后呈不均匀轻度强化。5例伴转移。结论儿童肾恶性横纹肌样瘤CT、MRI表现有特征性,儿童肾实质内巨大肿块,合并囊变坏死、出血,集合系统受累,伴有包膜下积液,弥散受限,增强扫描实性成分轻度强化,常合并转移,应高度警惕肾恶性横纹肌样瘤的可能。

中枢神经系统非典型畸胎瘤样/横纹肌样瘤临床病理特点

目的 探讨中枢神经系统非典型畸胎瘤样 /横纹肌样瘤 (atypicalteratoid/rhabdoidtumor ,AT/RT)的临床病理特征、组织发生及预后。方法 应用光镜、特殊染色及免疫组化染色观察 1例 2岁儿童大脑AT/RT的病理组织学特点 ,结合国内外文献进行讨论。结果 肿瘤含有横纹肌样细胞、原始神经外胚层、上皮及间叶多向分化成分。肿瘤中网状纤维丰富。免疫组化染色Vim、EMA、CKpan、GFAP、Syn及CgA均呈阳性表达 ,PLAP、CD117、SMA及NF呈阴性反应。结论 AT/RT为发生在儿童中枢神经系统罕见的高度恶性肿瘤 ,多数患者 1年内死亡。肿瘤极易误诊为髓母细胞瘤、原始神经外胚叶肿瘤(PNET)、脉络丛乳头状癌及生殖细胞肿瘤。免疫组化染色对确诊AT/RT十分重要。本瘤的组织发生仍不清楚。

小儿恶性横纹肌样瘤33例临床病理分析

目的探讨小儿恶性横纹肌样瘤(MRT)的临床病理特点、免疫表型、诊断与鉴别诊断。方法复习33例MRT的临床资料、组织切片,进行光镜检查和免疫组化染色。结果 33例MRT大部分为婴幼儿,肿瘤较大。其中肾14例,软组织11例,中枢神经系统8例。组织学特征是横纹肌样细胞和包涵体。免疫组化示CK、EMA和vimentin(+),INI1(-)。结论组织学上呈横纹肌样细胞,免疫组化CK、EMA和vimentin(+),INI1(-)是MRT诊断与鉴别诊断的关键。肿瘤高度恶性,需手术切除后辅以强力的化疗和放疗。

儿童恶性横纹肌样瘤8例临床分析

目的研究儿童恶性横纹肌样瘤(MRT)的临床特点、治疗方法及预后情况。方法回顾性分析北京同仁医院儿科病房2005年1月1日—2017年1月1日收治的确诊为MRT的8例儿童病例资料和预后。结果8例MRT患儿中,男2例,女6例;中位发病年龄16(9~68)个月,≤1岁者3例,>1岁者5例。发病部位:肾脏原发5例,其中左肾3例,右肾2例;肾外部位包括盆腔1例,腹膜后1例,椎管1例。肿瘤分期Ⅲ期5例,Ⅳ期3例;肾恶性横纹肌样瘤(MRTK)包括Ⅲ期3例、Ⅳ期2例,肾外非中枢神经系统恶性横纹肌样瘤(EERT)包括Ⅲ期2例,非典型畸胎瘤样/横纹肌样瘤(AT/RT)Ⅳ期1例。本组患儿接受包括化疗、手术、放疗及靶向治疗的综合治疗。中位随访时间11.5(5~33)个月,5例死亡,中位生存时间8(5~13)个月,3例患儿无事件生存(EFS)37.5%(3/8)。3例≤1岁的患儿均死亡(100%);5例>1岁患儿死亡2例,占40%(2/5)。肿瘤分期Ⅲ期者存活3/5,Ⅳ期存活0/3;MRTK存活2/5,EERT存活1/2,AT/RT存活0/1。结论儿童MRT临床可因发病部位不同而表现多样,恶性程度极高,预后差,年龄及分期均可影响预后。目前尚无MRT标准治疗方案,靶向治疗研究可能是改善MRT预后的突破点。

儿童肾恶性横纹肌样瘤的临床与影像特征

目的探讨儿童肾恶性横纹肌样瘤（MRT）的临床与影像学特征,提高对该病的认知。资料与方法收集2008年4月—2015年3月北京儿童医院经活检或切除术后病理证实的MRT患儿16例。术前均行腹部B超检查,其中13例行CT、1例行MRI检查,总结分析其临床及影像学特点。结果 16例患儿中,男5例、女11例,年龄3个月-10岁2个月,中位年龄14.5个月;11例因肉眼血尿就诊,发现转移6例,伴发脑内肿瘤1例。肿瘤均发生于单侧肾,呈类圆形或不规则形,瘤体多较大,平均长径（7.1±2.8）cm。B超主要表现为混杂回声包块,多伴有明显囊变。CT多为有明显囊变的混杂密度病变,囊实性边界模糊、呈渐变样改变,部分病例伴出血、少数有钙化;增强不均匀强化,程度低于正常肾实质。MRI表现为混杂信号肿块、有囊变及出血,强化较CT显著。10例瘤体侵犯肾盂,5例伴有肾被膜下积血/积液。15例切除术后化疗后随访,8例有复发,3例新出现远处转移,3例原转移病变进展。结论儿童肾MRT多见于婴儿,转移及复发率较高;影像学主要表现为肾内较大不均质肿块、多伴坏死出血,多侵犯肾盂,部分伴被膜下积液/积血。

恶性横纹肌样瘤(MRT)的起源研究——高变异率HeLa细胞致裸鼠产生MRT的实验研究

：HeLa细胞KB株、X株、NM20／X株、H株的染色体众数依次为60±3（超二倍体）、62±3（超二倍体）、68±3（超二倍体和亚四倍体）和78±2（亚四倍体），所占比率分别为72%～76%，69%，52%和40%。在纯化3代的肿瘤阴性对照二倍体猫肾（染色体众数38所占比率80%）和犬肾原代细胞皮下接种裸鼠的致癌／致瘤率分别为0%（0／22）和0%（0／10），X株HeLa细胞冻融裂解物皮下接种裸鼠产生进行性缩小肿瘤的比率为20%（1／5）的前提下，HeLa细胞KB株、X株、NM20／X株皮下接种裸鼠产生进行性生长恶性肿瘤的比率分别为100%（10／10），100%（25／25）和100%（5／5），H株细胞皮下接种裸鼠产生恶性肿瘤的比率为50%（5／10）。其中，只有HeLa细胞KB株10～11代（染色体结构畸变率高达20%，出现18%双着丝点和2%断片）以超高数量接种的1组4只裸鼠（0.17ml 12.75×107／鼠）才均形成MRT，特别是从染色体众数不同的3株HeLa细胞中筛选出致瘤性强的X株，连传20代后皮下接种裸鼠形成低分化肿瘤，定名为NM20／X株0代，其染色体众数因经裸鼠体内传代选育而明显增大（染色体众数为68±3，所占比率为52%），实体瘤手术切除后体外连传11代，再皮下接种裸鼠均形成MRT（5／5），但要求完形活细胞接种量要大（5～12×107／鼠），肿瘤产生?