Adult rhabdomyosarcoma combined with acute myeloid leukemia: A case report

BACKGROUND Rhabdomyosarcoma is a tumor of mesenchymal origin.Secondary leukemia is a complication of previous transformation to other hematologic disorders or is a treatment-related acute myeloid leukemia secondary to cytotoxic chemotherapy or radiation therapy for other malignancies.CASE SUMMARY We present the case of a 36-year-old female patient who was diagnosed with rhabdomyosarcoma and acute myeloid leukemia.Further disease progression was observed after multiline chemotherapy.Eventually,the patient suffered cerebral hemorrhage,which resulted in death.CONCLUSION The incidence of rhabdomyosarcoma in adults is extremely low,and secondary leukemia caused by rhabdomyosarcoma is even rarer.Secondary leukemia has a very poor prognosis and a low overall survival rate.

Pleomorphic rhabdomyosarcoma of the vagina: A case report

BACKGROUND Rhabdomyosarcoma(RMS)of the vagina in postmenopausal women is an extre-mely rare malignant tumor that was originally described as a unique group of soft tissue sarcomas originating from primitive mesenchymal cells.It was first re-ported in postmenopausal women in 1970,and fewer than 50 postmenopausal patients have been reported to date.CASE SUMMARY A 68-year-old multiparous female was admitted to the hospital on October 11,2023,with the chief complaint of a mass causing vaginal prolapse with incomplete urination that had persisted for 4 months.The vaginal mass was approximately the size of a pigeon egg;after lying down,the vaginal mass retracted.Complete resection was performed,and vaginal pleomorphic RMS was diagnosed based on pathology and immunohistochemical staining features.The patient is currently undergoing chemotherapy.The present study also reviewed the clinical,histolo-gical,and immunohistochemical features and latest treatment recommendations for vaginal RMS.Any abnormal vaginal mass should be promptly investigated through pelvic examination and appropriate imaging.The current initial treat-ment for vaginal RMS is biopsy and primary chemotherapy.CONCLUSION When surgery is planned for vaginal RMS,an organ-preserving approach should be considered.

Orbital and sinus rhabdomyosarcoma with concurrent central retinal artery occlusion:A case report

BACKGROUND Both rhabdomyosarcoma(RMS)and central retinal artery occlusion(CRAO)are rare medical diseases,and their simultaneous occurrence in the same patient is extraordinarily uncommon.This study presents a comprehensive overview of the clinical manifestations,diagnostic imaging results,and therapeutic interventions of a patient with both conditions.CASE SUMMARY In this report,we present a 30-year-old male who presented with significant protrusion,pain and vision loss and was diagnosed with RMS in the orbit and sinus with CRAO.Following resection of the sinus and orbital mass and enucleation of the right eye,the patient experienced symptom improvement.CONCLUSION This article provides an in-depth analysis of the patient’s clinical manifestations,the tumor’s anatomical origin,and the etiology of CRAO.The concurrent manifestation of both RMS and CRAO is exceedingly uncommon in clinical practice.

Rhabdomyosarcoma in Children: About 10 Cases

Introduction: Rhabdomyosarcoma (RMS) is a malignant soft-tissue tumor arising from striated muscle cells. It accounts for 60% - 70% of malignant mesenchymal tumors and 5% of pediatric cancers. Two-thirds of these cancers are diagnosed in children under 6 years of age, with a slight male predominance. Materials and Methods: This is a retrospective descriptive study of 10 cases of RMS collected in the pediatric hematology and oncology department of the Oujda university hospital, over a 5-year period, running from January 2018 to December 2022. Results: The median age at diagnosis was 3 years, with a sex ratio of 1. The mean time to diagnosis was 2 months. The most common site was the head and neck (50%), followed by the genitourinary tract (20%), the extremities (20%) and finally the abdomen (10%). The most frequent mode of discovery was a mass or swelling found in 90% of patients (all sites included), followed by exophthalmos in 30% of cases. At the diagnostic stage, CT scans were performed in 70% of cases and MRI in 5 patients (50%). Histological diagnosis was determined by immunohistochemical pathology in all our patients, with a predominance of embryonal (70%) versus alveolar (20%) and spindle cell types (10%). All patients underwent an extension workup, and a cervico-thoraco-abdominopelvic CT was performed in all patients (100%);MRI was performed in 2 patients (20%);lymph node involvement was present in 5 patients (50%). Metastases at the time of diagnosis were noted in only 1 patient (10%), who simultaneously presented with two metastatic sites;testicular and abdominal wall. Sixty percent of patients presented with advanced disease (high risk) and 40% with standard risk. Chemotherapy was used in all patients (100%), with upfront tumor resection performed in 40%. Fifty percent of patients received radiotherapy at a mean dose of 43 Gy, with the orbit the most frequently irradiated area (30%). All patients underwent CTscan and/or MRI and/or ultrasound surveillance. Follow-up during and after treatment was marked by complete remission in 8patients, loss of sight in one patient, and one patient died as a result of progressive disease. Conclusion: RMS is a malignant tumor of striated muscle. The epidemiological and clinical features of this tumor in our study are generally similar to those described in the literature. Management of these tumors requires multidisciplinary collaboration involving oncopediatric, radiologist, pediatric surgeon, pathologist and radiotherapist.

Chromosomal imbalances revealed in primary rhabdomyosarcomas by comparative genomic hybridization

Background Previous cytogenetic studies revealed rhabdomyosarcoma. We profiled chromosomal imbalances aberrations varied among the three subtypes of n the different subtypes and investigated the relationships between clinical parameters and genomic aberrations. Methods Comparative genomic hybridization was used to investigate genomic imbalances in 25 cases of primary rhabdomyosarcomas and two rhabdomyosarcoma cell lines. Specimens were reviewed to determine histological type, pathological grading and clinical staging. Results Changes involving one or more regions of the genome were seen in all rhabdomyosarcomal patients. For rhabdomyosarcoma, DNA sequence gains were most frequently （〉30%） seen in chromosomes 2p, 12q, 6p, 9q, 10q, lp, 2q, 6q, 8q, 15q and 18q; losses from 3p, 11p and 6p. In aggressive alveolar rhabdomyosarcoma, frequent gains were seen on chromosomes 12q, 2p, 6p, 2q, 4q, 10q and 15q; losses from 3p, 6p, lq and 5q. For embryonic rhabdomyosarcoma, frequent gains were on 7p, 9q, 2p, 18q, lp and 8q; losses only from 11p. Frequently gained chromosome arms of translocation associated with rhabdomyosarcoma were 12q, 2, 6, 10q, 4q and 15q; losses from 3p, 6p and 5q. The frequently gained chromosome arms of nontranslocation associated with rhabdomyosarcoma were 2p, 9q and 18q, while 11p and 14q were the frequently lost chromosome arms. Gains on chromosome 12q were significantly correlated with translocation type. Gains on chromosome 9q were significantly correlated with clinical staging. Conclusions Gains on chromosomes 2p, 12q, 6p, 9q, 10q, lp, 2q, 6q, 8q, 15q and 18q and losses on chromosomes 3p, 11p and 6p may be related to rhabdomyosarcomal carcinogenesis. Furthermore, gains on chromosome 12q may be correlated with translocation and gains on chromosome 9q with the early stages of rhabdomyosarcoma.

Mandibular Embryonal Rhabdomyosarcoma Confused with a Vascular Malformation: About a Case

Malignant mesenchymal tumors (MTM) in children represent 5% to 10% of malignant tumors in children. They constitute a heterogeneous group of tumors of various differentiations depending on their supposed tissue of origin. They mainly include tumors of muscular origin, those derived from connective, vascular, nervous, or adipose tissue. Rhabdomyosarcoma (RMS) is the most common mesenchymal tumor in children and adolescents (60% to 70% of them). And it accounts for 5.8% of all malignant solid tumors in children. Almost half of rhabdomyosarcomas occur in the head and neck. The prognosis for this type of tumor is particularly poor. A case of rhabdomyosarcoma in the mandible with extension to the abdominal wall and unilateral testis in a 6-month-old infant is reported with evolution since birth. It is a purplish lesion at the level under the right chin which was initially taken for vascular malformation, evolving very quickly towards a mandibular mass deforming the painful face with inflammatory signs, followed by the appearance of a hard swelling under the skin on the left flank taking on the same aspect of the mandibular mass. This observation illustrates the need to know how to systematically think about tumor causes in the face of atypical aspects and to carry out an anatomopathological examination.

耳部原发性横纹肌肉瘤

耳部横纹肌肉瘤（rhabdomyosarcoma,RMS）临床较少见,由于对其认识不足,常延误诊断,以致影响到该病的预后,现将我科1999年1月～2009年1月年间所诊治的10例耳部横纹肌肉瘤报道如下。

Locally advanced cervical rhabdomyosarcoma in adults:A case report

BACKGROUND Rhabdomyosarcoma is a soft tissue tumor of primitive mesenchymal cells origin,occurring predominantly in children and adolescents,but extremely rare in adults and the data regarding its treatment are sparse.Here,we would like to share our experience in the treatment of a locally advanced primary embryonal rhabdomyosarcoma of cervix in a 39-year-old female.CASE SUMMARY The patient was admitted with symptoms of intermenstrual bleeding and postcoital bleeding for six months.Physical examination revealed a friable,polyplike mass(5 cm×5 cm)in her cervix protruding into the vagina,while the uterus was mobile and normal-sized.Colposcopy-directed biopsy was performed,and a pathological diagnosis of embryonal rhabdomyosarcoma was made.Magnetic resonance imaging of the pelvis showed that the cervical volume was significantly increased,with a hypointense and hyperintense soft tissue mass on the right side,invading the cervical stroma;the mass was 5 cm×5 cm with a clear boundary and confined to the cervix;there were no obvious findings indicating tumor invasion in the vaginal wall,parametrium,or pelvic wall;no enlarged lymph nodes were observed in the pelvic cavity.Based on our findings,the tumor was classified as stage IA according to the intergroup rhabdomyosarcoma studies criteria and IB3stage according to The International Federation of Gynecology and Obstetrics 2018.The patient underwent two courses of neoadjuvant chemotherapy and a partial remission was achieved.Subsequently,she underwent laparoscopic radical hysterectomy,bilateral salpingo-oophrectomy and pelvic lymph node dissection and there were no risk factors revealed by postoperative pathological examination.Adjuvant chemotherapy was performed after surgery.The patient was disease-free until the last follow-up,49 mo after completing the entire treatment.CONCLUSION Our experience suggests that neoadjuvant vincristine,dactinomycin,and cyclophosphamide chemotherapy followed by radical surgery and adjuvant chemotherapy might be reasonable therapeutic option for bulky cervical rhabdomyosarcoma in adults without fertility desire.Since large-scale studies on such rare conditions are rather impossible,further case reports and systematic reviews could help optimize the treatment of primary,bulky cervical rhabdomyosarcoma in adults.

Embryonal rhabdomyosarcoma in the maxillary sinus with orbital involvement in a pediatric patient:Case report

This report presents a case of embryonal rhabdomyosarcoma(e RMS) located in the left maxillary sinus and invading the orbital cavity in a ten-year-old male patient who was treated at a referral hospital.The images provided from the computed tomography showed a heterogeneous mass with soft-tissue density,occupying part of the left half of the face inside the maxillary sinus,and infiltrating and destroying the bone structure of the maxillary sinus,left orbit,ethmoidal cells,nasal cavity,and sphenoid sinus.An analysis of the histological sections revealed an undifferentiated malignant neoplasm infiltrating the skeletal muscle tissue.The immunohistochemical analysis was positive for the antigens:MyoD 1,myogenin,desmin,and Ki67(100% positivity in neoplastic cells),allowing the identification of the tumour as an eR MS.The treatment protocol included initial chemotherapy followed by radiotherapy and finally surgery.The total time of the treatment was nine months,and in 18-mo of follow-up period did not show no local recurrences and a lack of visual impairment.

Current management of pediatric soft tissue sarcomas

Pediatric soft tissue sarcomas are a group of malignant neoplasms arising within embryonic mesenchymal tissues during the process of differentiation into muscle, fascia and fat. The tumors have a biphasic peak for age of incidence. Rhabdomyosarcoma(RMS) is diagnosed more frequently in younger children, whereas adult-type non-RMS soft tissue sarcoma is predominately observed in adolescents. The latter group comprises a variety of rare tumors for which diagnosis can be difficult and typically requires special studies, including immunohistochemistry and molecular genetic analysis. Current management for the majority of pediatric sarcomas is based on the data from large multi-institutional trials, which has led to great improvements in outcomes over recent decades. Although surgery remains the mainstay of treatment, the curative aim cannot be achieved without adjuvant treatment. Pre-treatment staging and risk classification are of prime importance in selecting an effective treatment protocol. Tumor resectability, the response to induction chemotherapy, and radiation generally determine the risk-group, and these factors are functions of tumor site, size and biology. Surgery provides the best choice of local control of small resectable tumors in a favorable site. Radiation therapy is added when surgery leaves residual disease or there is evidence of regional spread. Chemotherapy aims to reduce the risk of relapse and improve overall survival. In addition, upfront chemotherapy reduces the aggressiveness of the required surgery and helps preserve organ function in a number of cases. Long-term survival in low-risk sarcomas is feasible, and the intensity of treatment can be reduced. In high-risk sarcoma, current research is allowing more effective disease control.

Clinicopathological analysis of 719 pediatric and adolescents’ ocular tumors and tumor-like lesions:a retrospective study from 2000 to 2018 in China

AIM:To describe the clinicopathologic features and classification of pediatric and adolescent ocular tumors and tumor-like lesionsMETHODS:A total of 719 cases of pathologically confirmed ocular tumors and tumor-like lesions in a pediatric population from two academic institutions over an 18-year period were retrospectively analyzed.The main outcome measures were the clinical and pathological features of the cases.RESULTS:Benign tumors accounted for 92.1%of all cases while malignant tumors accounted for 7.9%.The most common ocular benign tumors were(epi-)dermoid cysts(19.8%),nevi(15.2%),corneal dermoid tumors(9.8%),and calcified epitheliomas(8.8%).The most common ocular malignant tumors were retinoblastoma(80.8%),and rhabdomyosarcoma(3.9%).Eyelid and ocular surface tumors comprised 73.3%of benign tumors while intraocular and orbital cavity comprised 94.2%of malignant tumors.For tumor site,the upper eyelid was up to 1.79 times more than lower eyelid(P<0.05).Age at surgery and sex also had an association with different lesions(P=0.006,P=0.035,respectively).CONCLUSION:Most ocular tumors and tumor-like lesions in children and adolescents are benign.Pediatric ocular tumors are distinct from those in adults in terms of histological origin.(Epi-)dermoid cysts are the most common benign tumors while retinoblastomas the most common malignant tumors.

Antisense Oligonucleotide Targeting TGF-β1 Abrogates Tumorigenicity of Rhabdomyosarcoma in vivo

OBJECTIVE Over-expression of transforming growth factor β1 （TGF-β1） has been observed in many advanced cancers. The present study was aimed at developing potential antisense oligonucleotides （ASONs） to repress TGF-β1 expression in rhabdomyosarcoma （RMS） RD cells, and to examine their effect on tumorigenicity of RD cells in vivo. METHODS ASONs targeting the region surrounding the start codon of TGF-β1 were synthesized and transferred into cells in the form of complexes with Lipofectamine 2000. The TGF-β1 protein was determined by immunofluorescence and ELISA. The cell viability and cell cycle were examined by MTT and flow cytometry. The RD cells, with or without TGF-β1ASON, in 50 μl of serum-free EMDM medium were injected subcutaneously into the right flank of nude mice. The tumors were then measured and weighed. RESULTS The ASON sequence targeting the first start site at bases 841-855 of the human TGF-β1 gene had the greatest effect on attenuating the expression of TGF-β1 （P 〈 0.05）. The ASONs induced a decrease in OD values after 6 d （P 〈 0.05）. Analysis of the cell cycle revealed that the ASON induced a significant decrease in cells in the S phase and an increase in cells in the G1 phase （P 〈 0,05）. In the nude mice model, the mean tumor volume, after 2 weeks of treatment with Lipofectamine or ASON, decreased to 88.5% or 55% respectively, compared to the control tumor size, resulting in a significant difference （P 〈 0.01）. CONCLUSION The sequence of the ASON, which targeted the start condon at the bases 841-855 of the human TGF-β1 gene, was demonstrated to be a useful agent for studying the regulation of TGF-β1 over-expression in RD cells, and has important therapeutic potential for suppressing the tumorigenicity of human RMS in vivo.

Primary rhabdomyosarcoma: An extremely rare and aggressive variant of male breast cancer

BACKGROUND Rhabdomyosarcoma(RMS)of the breast,a mesenchymal neoplasm with skeletal muscle differentiation,is an extremely rare tumour in males,with less than 30 cases published in English-language literature.We report on the first case of a male breast RMS,with an unusual ectomesenchymal/neuroectodermal component.CASE SUMMARY A 55-year-old,previously healthy male,underwent a radical left mastectomy for an ulcerated tumour mass,occupying the breast and left anterior thoracic wall.The biopsy specimen indicated the presence of a tumour with neural origins,namely a peripheral neuroectodermal tumour(PNET).The surgical specimens identified two components.The rhabdomyosarcomatous component(over 70%)was represented by large pleomorphic cells with positivity for desmin,sarcomeric actin and myogenin.The PNET-like ectomesenchymal component,which was admixed with the RMS cells,and was also revealed during the preoperative biopsy,consisted of small cells which expressed neurofilament,neuron specific enolase and CD99.The microscopic examination,along with the immunohistochemical profile,allowed the diagnosis of an RMS,with unusual ectomesenchymal differentiation.The patient refused the postoperative oncologic therapy and died three months after surgery.CONCLUSION In patients with RMS of the breast,the PNET-like ectomesenchymal component increases the diagnosis difficulty,especially in biopsy specimens.This differentiation can be immunohistochemically proven and might highlight the possible development of high-grade sarcoma of the breast from remnants of the embryological ectodermal layer.

Alveolar Rhabdomyosarcoma of the Laryngohypopharynx： A Case Report

Introduction Rhabdomyosarcoma is one of the most commonly seen soft-tissue sarcomas in children and teenagers, approximately accounting for half of all soft-tissue sarcomas. The tumor is usually found in head and neck, four limbs and urogenital system. However, the tumor orig- inating from the laryngohypopharynx is rare. In 2008, a patient with alveolar rhabdomyosarcoma of the laryngohypopharynx was admitted to our hospital. Clinical information of the disease was reported as follows, and clinicopathologic features and current therapeutic principle were discussed and summarized in combination with the review of literature, to facilitate the diagnosis and treatment of the patients with rhabdomyosarcoma of the laryngohypopharynx in future.

Pleomorphic rhabdomyosarcoma of the spermatic cord and a secondary hydrocele testis:A case report

BACKGROUND Pleomorphic rhabdomyosarcoma(RMS)of the spermatic cord is a group of rare neoplasms,and a secondary hydrocele testis occasionally occurs.The misdiagnosis of paratesticular mass may lead to a therapeutic delay.CASE SUMMARY A 79-year-old man presented to our clinic complaining of a 1-mo history of painless scrotal swelling.Physical examination revealed approximately a 15 cm×10 cm×5 cm inguinal mass with limited mobility.Contrast-enhanced magnetic resonance imaging showed a hydrocele testis,several enlarged inguinal lymph nodes,and a heterogeneously enhanced lesion with a relatively well-defined margin in the left inguinal region.Due to the imaging findings,he was diagnosed with pleomorphic RMS and received a wide resection of the mass,an inguinal incision with a high section of the left spermatic cord,and a left radical orchiectomy.He experienced local relapse 1 mo postoperatively and received radiotherapy and anlotinib hydrochloride-based immunotherapy as adjuvant therapy.The patient died 3 mo after the surgery.CONCLUSION The optimal interventions for advanced-stage pleomorphic RMS patients should be investigated by more preclinical studies and clinical trials.Physicians need to be aware of the occurrence of pleomorphic RMS in unusual locations,especially when accompanied by a hydrocele testis.

Successful Treatment of Adult Pleomorphic Rhabdomyosarcoma in the Posterior Left Femur: A Case Report

Introduction: Rhabdomyosarcoma (RMS) is the most common childhood soft tissue sarcoma, but it represents only a small portion of soft tissue sarcoma in adult population. There is a treatment protocol based on Intergroup Rhabdomyosarcoma Study (IRS) that provides satisfactory results in treating RMS in children, but there is only limited evidence regarding the outcome and prognosis in extrapolating the IRS protocol to treat RMS in adults. We report a case of adult pleomorphic RMS treated with multidisciplinary approach and the results we have obtained. Case presentation: A 48-year-old woman was admitted in February 2011 due to a painful mass on her left thigh. Diagnosis of pleomorphic rhabdomyosarcoma was made by histopathology and immunohistochemistry. After multimodal treatment that includes Trans-Arterial Chemotherapy Infusion, Cryosurgery, and wide excision surgery, our patient remains disease-free as of the latest annual follow up examination on June 2017. Conclusions: The pleomorphic type of Rhabdomyosarcoma is very rare in adults and is often associated with a poor prognosis. In our case, a multidisciplinary approach with multimodal treatment provides excellent result, even after a routine follow up spanning through six years.

Primary Pleural Rhabdomyosarcoma: Plain Film, CT and MRI Findings of This Extremely Rare Intrathoracic Tumor

Primary pleural rhabdomyosarcoma is an extremely rare intrathoracic malignancy. We present a case of a previously healthy 2-year-old male complaining of cough and shortness of breath. The plain film, CT and MRI descriptions of this pleural tumor are presented. This is a fast growing tumor that is indistinguishable radiographically from other large intrathoracic tumors such as pleuropulmonary blastoma.

儿童鼻腔鼻窦胚胎性横纹肌肉瘤1例

1 临床资料患儿,女,6 岁,因鼻塞伴双侧鼻腔流血水半个月,加重4天入院。患儿半月前无明显原因出现双侧鼻塞,睡眠时打鼾,伴有头部闷胀感和双侧鼻腔流血水。4天前就诊于外院,行电子鼻咽镜后诊断为:腺样体肥大,检查后鼻腔出血量变大和眼睛不适,家长诉视力下降,无复视。为求进一步诊治,遂来中国医科大学附属盛京医院耳鼻咽喉科就诊,门诊以"鼻腔鼻窦肿物"为诊断收入院。专科检查:鼻外形挤压膨隆,鼻中隔稍偏,右侧鼻腔可见红色新生肿物,少量渗血。

Our Experience with Embryonal Rhabdomyosarcoma Presenting as Aural Polyp

Aural polyps are a common clinical entity encountered by otorhinolaryngologist in daily practice. Polyps are frequently seen in paediatric patients, usually inflammatory in nature. In children rhabdomyosarcomas (RMS) can mimic all the cinical features of chronic suppurative otitis media which usually present as external auditory canal mass or polyp. Here we present a case where a male child presented with recurrence of polyp in left ear which was finally diagnosed as embryonal rhabdomyosarcoma which is a rare and invariably fatal disease in children. Through this article we intend to highlight the failures and delay committed in attaining diagnosis in this patient in spite of multispecialty evaluation involving repeated imaging and histopathological correlation. Our experience with embryonal rhabdomyosarcoma throws light on the high vigilance required in handling the aural polyps in pediatric population as early diagnosis and treatment are the key elements for successful outcomes.