Efficacy of topotecan plus vincristine and doxorubicin in children with recurrent/refractory rhabdomyosarcoma

Background This study investigates the efficacy and the feasibility of a chemotherapy regimen with topotecan plus vincristine and doxorubicin (TVD) given on an individually tailored basis to patients with refractory/recurrent rhabdomyosarcoma (RMS). Patients and methods Nine patients received TVD therapy at relapse, and six were assessable for response. Results All the six patients experienced objective response after two cycles of chemotherapy: one minor response, four partial response, and one complete response. Conclusions The value of our study is severely limited by the small number of cases, the single-institutional setting and the individually tailored treatment, but we nonetheless confirmed the feasibility and tolerability of topotecan-based chemotherapy in RMS.     

Rhabdomyosarcoma of nose, nasopharynx and paranasal sinuses

Rhabdomyosarcoma is an aggressive malignant soft tissue tumor that arises from primitive striated muscle cells called rhabdomyoblasts. It is the most common soft tissue malignant tumor in children and accounts for about 7–8% of childhood cancers. It can arise from almost anywhere in the body but it is most common in the head and neck region. This article presents six cases of rhabdomyosarcoma involving the nose, nasopharynx and the paranasal sinuses four of which were treated with a combination of radiotherapy and chemotherapy and two were treated with medial maxillectomy combined with chemotherapy and radiotherapy.     

Rhabdomyosarcoma Subtyping by Immunohistochemical Assessment of Myogenin: Tissue Array Study and Review of the Literature

Myogenin immunostaining has been described as a useful marker of the alveolar subtype of rhabdomyosarcoma and as a tool for distinguishing it from the more common embryonal subtype. To add to the growing body of literature describing this phenomenon we analysed myogenin immunohistochemical staining in 152 tumors using a rhabdomyosarcoma tissue array. Results were analysed blinded to histological type by two independent investigators. Samples were excluded if any samples failed to stain with desmin and/or myogenin. Mean percentage of myogenin positive cells was significantly greater for ARMS (n = 31; mean percentage positivity 59% (95% confidence intervals ± 7%) than ERMS (n = 41, mean percentage positivity 16%, 95% confidence intervals ± 4; P < 0.0001). This data is consistent with previously published studies identifying strong nuclear myogenin staining in a high proportion of cells as a marker of alveolar histology.     

Massive bone marrow involvement by clear cell variant of rhabdomyosarcoma

A 16-year-old boy with generalized myalgia and petechial hemorrhage was found to have a diffuse infiltrative disease in his bone marrow (BM). The BM aspirate contained a dense population of vacuolated blast-like cells. The BM biopsy displayed compact sheets of small round cells with clear cytoplasm, reminiscent of Ewing sarcoma. Immunostains were not diagnostically conclusive while transmission electron microscopy on the BM cells demonstrated a clear skeletal muscle differentiation. The morphologic findings led to a tentative designation of metastatic embryonal rhabdomyosarcoma (RMS). It was not until cytogenetic analysis revealed the specific translocation t(2;13)(q35;q14) did the alveolar RMS finally get confirmed. Despite an exhaustive search by imaging studies, a primary tumor was not detected. This case illustrates that the massive BM involvement by atypical alveolar RMS of unknown origin may pose serious diagnostic challenges. Multidisciplinary studies are required to reach a definitive diagnosis     

15例鼻腔鼻窦横纹肌肉瘤的临床分析

目的 探讨鼻腔鼻窦横纹肌肉瘤(RMS)的临床特征、治疗方式及预后的影响因素。方法 回顾性分析2012年1月—2022年1月收治的15例鼻腔鼻窦RMS患者资料。15例RMS患者多为青少年,胚胎型12例,腺泡型3例。其中单纯化疗1例,鼻内镜手术+术后化疗3例,鼻内镜手术+术后放化疗7例,术前诱导化疗+鼻内镜手术+术后放化疗4例。应用SPSS 26.0软件进行描述性统计分析,用Kaplan-Meier法评估患者的临床特征、病理类型、肿瘤分期、治疗方式等因素与临床预后的关系。结果 随访3～113个月。治疗后6例无复发,4例局部复发,5例全身转移。8例生存,7例死亡。1年生存率约为93.3%,5年生存率约为43.6%。病理类型、淋巴结转移、远处转移、治疗方式及美国RMS研究组(IRS)分期是影响RMS预后的危险因素(P<0.05)。结论 鼻腔鼻窦RMS临床罕见,易侵及眼眶、颅底,具有高复发率及死亡率。多学科联合诊疗是目前有效的治疗方式,手术联合辅助放化疗可降低复发率、改善预后。提高对该病的临床及病理认识,进行分子学及基因组学研究,寻找新的治疗靶点,有望提高患者的生活质量及生存率。     

Clinical outcomes of rhabdomyosarcoma and Ewing's sarcoma of the head and neck in children

Objective

To review our experience and critically evaluate treatment strategy and results in children with head and neck rhabdomyosarcoma and Ewing's sarcoma.

Methods

Retrospective charts review of children affected by non-orbital rhabdomyosarcoma or Ewing's sarcoma of the head and neck who were treated at our institution from January 1996 to August 2009.

Results

Seven consecutive children with head and neck rhabdomyosarcoma or Ewing's sarcoma were identified. Four children had rhabdomyosarcoma, 3 children had Ewing's sarcoma. Regions involved were: cheek, ethmoid and maxillary sinuses, nasopharynx, middle ear/mastoid and frontal bone. In one case, surgery was performed as primary treatment modality; the other children were treated firstly with chemotherapy. Three patients underwent surgical resection after chemotherapy, while 4 patients received radiotherapy. Five children are disease free after a median of 7.7 years from initial diagnosis. Two patients relapsed after 10 and 29 months from initial diagnosis respectively; despite the administration of additional therapy both children died of disease.

Conclusion

Treatment for rhabdomyosarcoma and Ewing's sarcoma consists in a multimodal therapy involving chemotherapy, radiotherapy and surgery. The optimum use, timing and intensity of these three treatments are still matters of international debate. Chemotherapy in association with radiotherapy has proven capable to obtain local and distant control of disease. But when surgery is unfeasible or fails in radicality, local control is difficult without radiotherapy. Despite additional therapeutic efforts, prognosis of relapsing disease remains poor.     

More than Grapes and Bleeding: An Updated Look at Pelvic Rhabdomyosarcoma in Young Women

Study Objective

To review our local experience with urogenital rhabdomyosarcoma (RMS) to determine the most common clinical presentation(s).

Alterations of <Emphasis Type="Italic">RB1</Emphasis> gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype

PURPOSE: Rhabdomyosarcoma (RMS), which is the most common pediatric soft tissue sarcoma, is classified into two major histologic subtypes, embryonal RMS (ERMS) and alveolar RMS (ARMS). RMS is occasionally reported to be the second neoplasm of hereditary retinoblastoma. Osteosarcoma is known as the most common second neoplasm of hereditary retinoblastoma, and tumorigenesis of osteosarcoma has been proven in previous studies to be related to the RB gene (RB1) alteration. Therefore, there might be a correlation between the tumorigenesis of RMS and RB1 alteration. METHODS: We examined the RB protein (pRB) expression and RB1 alteration such as allelic imbalance (gain or loss) and homozygous deletion, using immunohistochemistry, microsatellite makers, and quantitative real-time PCR in 57 sporadic RMS. RESULTS: Allelic imbalance was more frequently detected in ERMS (13/27), than in ARMS (3/20) (P = 0.04). Homozygous deletion on the protein-binding pocket domain of RB1 was found in 6 of 27 ERMS and in 2 of 20 ARMS (P = 0.24). Furthermore, immunohistochemical pRB labeling indexes (LI) in 31 ERMS (median value, 31%) were significantly reduced in comparison with those observed in 26 ARMS (median value, 85%) (P < 0.0001). CONCLUSIONS: Our results support the assertion that tumorigenesis of RMS may be associated with RB1 alteration especially in ERMS, as previously reported for osteosarcoma. As for the RB pathway, each subtype of RMS may have a different tumorigenesis. In addition, immunohistochemical pRB LI may have the potential to be a useful ancillary tool in the differential diagnosis of RMS subtypes.     

胆管横纹肌肉瘤影像诊断

患者,女,2岁,巩膜及皮肤黄染1个月,皮肤搔痒2周.体检:巩膜、皮肤黄染及周身可见搔痒抓痕,无其他阳性体征.实验室检查:ALT203.6 U/L,AST 127.8 U/L,TBLL 110.0 μmol/ml,DBLL 71.5 μmol/ml,ALP 495 U/L,WBC 11.4×109/L.超声检查:胆总管增粗,直径约为3.5cm,其内充满不均匀实性低回声肿物,肿物向肝内生长侵至左右肝管,肝门部层面可见肿物呈串珠状(图1),周围被更低回声的胆汁环绕,门静脉主干及左右分支受压,肝内胆管普遍轻度扩张,胆囊增大.     

肝未分化胚胎性肉瘤的CT及MRI表现

目的 探讨肝未分化胚胎性肉瘤(UESL)的螺旋CT及高场强MR的影像学表现,提高UESL诊断准确率.方法 回顾性分析14例经手术病理证实的UESL患者.螺旋CT检查5例,MR检查9例.结果 5例患者CT扫描均表现为平扫边界清晰的囊状低密度影,其内含有不规则的软组织影,增强后动脉期软组织强化,门脉期及延迟期继续强化.MRI 9例患者中6例T1WI表现为囊状高低信号混杂影,T2WI病灶以高信号为主.增强后动脉期病灶边缘强化,门脉期及延迟期继续强化;3例患者T1WI表现为囊状低信号影,T2WI呈高信号.增强后动脉期病灶边缘强化,门脉期及延迟期继续强化.结论 平扫和动态增强螺旋CT及高场强MRI能反应UESL的影像学特点,提高了UESL诊断准确率.