Stage IV primitive-appearing sinus and orbital rhabdomyosarcoma presenting in a 68-year-old female previously treated for breast cancer

A 68-year-old female who had undergone treatment several years previously for breast cancer presented with diplopia and unilateral proptosis and exposure keratopathy related to biopsy-proven rhabdomyosarcoma of the sinus and orbit. Further evaluation revealed multiple metastatic lesions felt to have originated from the primary sinus and orbital tumor. Histopathologic examination showed primitive-appearing rhabdomyosarcoma with some features suggestive of the alveolar subtype. Orbital or sinus rhabdomyosarcoma is seen almost exclusively in the pediatric population, but may very rarely occur in adults. There are several genetic mutations that appear to play a role in both rhabdomyosarcoma and certain breast tumors. There is also increasing evidence that even low doses of radiation may contribute to the future development of cancer, particularly in susceptible individuals. In our patient with atypical demographics for rhabdomyosarcoma, the previous neoplasm and treatment thereof may have predisposed to the development of this rare tumor.     

眼眶横纹肌肉瘤治疗的研究进展

横纹肌肉瘤是儿童时期最常见的一种软组织肉瘤.横纹肌肉瘤的治疗经历了一个发展过程.近年来随着肿瘤综合治疗观念的日臻完善,眼眶横纹肌肉瘤的治疗也发生了跨越性的进步,特别是先进的放射治疗技术和化疗方案的改进给横纹肌肉瘤患儿带来福音,使众多的眼眶横纹肌肉瘤患儿免受毁容之苦,本文就眼眶横纹肌肉瘤的治疗进行综述.     

Rhabdomyosarcoma: Review for the Ophthalmologist**

Rhabdomyosarcoma is a malignant neoplasm that is composed of cells with histopathologic features of striated muscle in various stages of embryogenesis. It can occur in several sites in the body, including the ocular region. Ocular rhabdomyosarcoma is defined as the occurrence of this tumor in the area of the eye. Most ocular rhabdomyosarcomas arise in the soft tissues of the orbit but they can rarely occur in the other ocular adnexal structures and even within the eye. The purpose of this review is to provide a brief overview of rhabdomyosarcoma and a more detailed review of orbital rhabdomyosarcoma, with emphasis on changing concepts in the diagnosis and management of this ophthalmic neoplasm.     

P-糖蛋白及多药耐药相关蛋白在眼眶横纹肌肉瘤中的表达及意义

目的　研究P 糖蛋白(P gp)、多药耐药相关蛋白 (MRP)在眼眶横纹肌肉瘤中的表达及临床意义。 方法　免疫组织化学法检测 42例眼眶横纹肌肉瘤和 10例正常眼眶组织中P gp、MRP的表达。 结果　P gp、MRP在眼眶横纹肌肉瘤组织中的表达阳性率分别为 38 10%和 54 76%,显著高于正常眼眶组织 (P<0 05 );P gp、MRP表达与年龄、性别、组织学类型、分期无关;复发组P gp和MRP的阳性表达率显著高于初发组(P<0 05);两蛋白间未见相关性。 结论　眼眶横纹肌肉瘤组织的多药耐药与P gp、MRP过表达有关,检测P gp、MRP的表达对判断预后有参考价值。     

Ophthalmic striated muscle neoplasms

Rhabdomyosarcoma, the most common primary malignant childhood orbital tumor, is composed of neoplastic striated muscle cells (rhabdomyoblasts) in various stages of differentiation and in patterns suggestive of neoplastic analogs of normal muscle embryogenesis. Orbital rhabdomyosarcoma is most commonly seen in children and adolescents, the average age of onset of symptoms being 7.8 years. The tumor usually presents as a rapidly evolving exophthalmos, often associated with drooping of the upper eyelid. A mass is palpable in only 25% of cases, loss of central vision at the time of presentation is uncommon, and laboratory studies are often of little help in diagnosis. The best diagnostic aid is a high index of suspicion whenever one sees a rapidly progressive exophthalamos in a child. Orbital rhabdomyosarcoma is almost always of the embryonal type, believed to originate in the orbital soft tissues from undifferentiated pluripotential embryonic mesenchyme. In the past, orbital exenteration has been the primary therapy. Review of 162 literature cases of orbital rhabdomyosarcoma, generally treated by unassisted surgery, revealed that only 25% of the patients suvived 3 or more years. Recently, it has been shown that radiation therapy, alone or combined with chemotherapy, can be successful. A multidisciplinary approach, utilizing surgery, radiation therapy and chemotherapy has also been advocated. Both approaches appear to offer greater survival than unassisted orbital exenteration. The possibility of primary radiation therapy is extremely promising; if it becomes increasingly effective, a mutilating surgical procedure may become obsolete.     

Enophthalmos associated with primary breast carcinoma

BACKGROUND AND OBJECTIVE The most common source of metastases to the orbit is from breast carcinoma.The orbital presentation can be the presenting sign of the cancer. Proptosis or exophthalmos is the more usual way metastases present, associated with ocular motility problems or diplopia. We present a case of enophthalmos associated with breast carcinoma whereby there is as yet no radiological evidence of an actual orbital metastatic lesion. PATIENTS AND METHODS A 51-year-old Caucasian woman with a known history of breast cancer presented with a 10-month history of vertical diplopia, particularly on upgaze. She noted that her left eye was becoming more “sunken” and examination confirmed an 8-mm enophthalmos on that side with restricted vertical eye movements and abduction. RESULTS A provisional diagnosis of metastatic breast cancer was made. CT and MRI scans were performed.The main feature noted was that of orbital fat atrophy with no evidence of an orbital mass. She has been followed up for a period of 21/2 years with 6-monthly scans.There has been no progression of her clinical signs and no orbital lesion found so far.We are continuing to review her. CONCLUSION Although no actual orbital mass has been found yet, we are treating her case as enophthalmos associated with scirrhosing breast carcinoma; she may, however, have spontaneous orbital fat atrophy, triggered by the cancer.     

A case of alveolar rhabdomyosarcoma of the ethmoid sinus invading the orbit in an adult

PURPOSE: A case study and literature review of alveolar rhabdomyosarcoma (RMS) in an adult. METHODS: A 48-year-old male patient presented at our clinic complaining of proptosis that had persisted for 2 weeks in his left eye. A computed tomography (CT) scan revealed a destructive soft-tissue mass in the left ethmoid sinus with invasion of the left orbit and compression of the medial rectus muscle. Endoscopic intranasal biopsy revealed alveolar RMS. Conservative debulking and orbital wall decompression were performed. RESULTS: Immunohistochemical testing was positive for desmin, S-100, and smooth muscle actin (SMA), supporting the diagnosis of RMS. Since ipsilateral cervical and spinal metastasis was detected, systemic treatment was administered simultaneously. CONCLUSIONS: Although rarely found in adults, RMS should be considered in the differential diagnosis of orbital tumors. Immunohistochemical analysis plays an important role in the definitive diagnosis of RMS.     

Adult Rhabdomyosarcoma of the Maxillary Sinus with Orbital Extension

Abstract

A 40-year-old male presented with 2 weeks of left facial pain, nasal congestion, dysphonia, and epistaxis along with left-sided epiphora. CT showed a large infiltrative mass centered in the left maxillary sinus with extension into the left orbit, bilateral paranasal sinuses, nasal cavity, and bilateral enlarged cervical lymph nodes. Biopsy results confirmed adult alveolar rhabdomyosarcoma (RMS). Systemic workup confirmed bilateral cervical lymph node metastasis. Currently the patient is undergoing chemotherapy. We describe a rare case of adult paranasal sinus RMS with orbital invasion.     

眼眶横纹肌肉瘤细胞凋亡及凋亡相关基因Bcl-2,Bax,p53的蛋白表达

目的 分析眼眶横纹肌肉瘤中的细胞凋亡及凋亡相关基因Bcl-2，Bax和p53的表达状态。方法 对31例标本，利用TUNEL技术显示凋亡细胞，用免疫组织化学方法检测Bcl-2，Bax及p53蛋白表达。结果 凋亡细胞检测率90．3％，肿瘤增生活跃区多见。Bcl－2阳性率29％，Bax阳性率54．5％，p53阳性率64．5％。Bcl-2与Bax表达呈正相关（P＜0．01）。Bcl-2阳性细胞与凋亡细胞分布区域明显不同。Bax与p53表达与细胞凋亡无相关关系（P＞0．05）。结论 眼眶横纹瘤中存在细胞凋亡与肿瘤增生有关。Bcl－2抑制Bax的功能进而抑制肿瘤细胞凋亡。p53在该肿瘤中可能不是调控细胞凋亡的主要因素。     

Endodermal sinus tumor (yolk sac tumor) of the orbit

The endodermal sinus tumor is a malignant germ cell neoplasm that usually arises in gonads, but on rare occasion occurs in extragonadal locations. Five tumors of the orbit, which by light microscopy displayed features characteristic of gonadal endodermal sinus tumor, were tested for the presence of alpha fetoprotein using paraffin-embedded tissue and an immunoperoxidase technique. Each tumor contained intracytoplasmic alpha fetoprotein. Review of the clinical histories revealed that orbital endodermal sinus tumors differ from other extragonadal endodermal sinus tumors in that they occur at a younger age and when treated aggressively can result in long-term survival. In children with rapidly progressive proptosis the distinction between endodermal sinus tumor and rhabdomyosarcoma poses diagnostic difficulties for both the clinician and the pathologist. When considering the diagnosis of endodermal sinus tumor, the use of immunohistochemical testing for alpha fetoprotein can be helpful.     

Multidisciplinary Management of Adult Orbital Rhabdomyosarcoma*

ABSTRACT

We report the case of a 52-year-old man who presented with a 10-day history of right eye and eyelid inflammation and intermittent diplopia following blunt trauma to the right eyebrow.

The CT and MRI scans revealed an extraconal soft tissue mass on the orbital floor with maxillary and ethmoid sinus wall destruction, which on orbital biopsy was proven to be an Alveolar Rhabdomyosarcoma. The patient had a central retinal vein occlusion due to mass effect that resulted in total visual loss at 2 months. He was referred to oncologists who treated him according to the paediatric RMS protocol and is still in remission at 2-year follow-up. Rhabdomyosarcoma is a rare tumour in adults which requires multi-disciplinary management. This highlights the necessity of considering rhabdomyosarcoma in the differential diagnosis of orbital tumours in any age group.     

Osteogenic sarcoma after orbital radiation rhabdomyosarcoma

PURPOSE: We describe the occurrence of maxillary and orbital osteogenic sarcoma in a child after treatment of contralateral orbital rhabdomyosarcoma with external beam radiation and chemotherapy. DESIGN: Interventional case report. INTERVENTION: Treatment of a maxillary and orbital rhabdomyosarcoma with surgical resection, systemic chemotherapy, and local radiation. MAIN OUTCOME MEASURES: Occurrence and histology of secondary malignancy after orbital radiation. RESULTS: An eleven year-old male presented for evaluation of left facial swelling, occurring ten years after successful treatment of a right orbital embryonal rhabdomyosarcoma with chemotherapy and 5040 cGY of external beam radiation. Computerized tomography demonstrated a mass involving the left maxillary sinus and orbital floor. Biopsy demonstrated osteogenic sarcoma. Despite attempted total excision with radical maxillectomy, resection margins were found to have microscopic extension of the tumor. Postoperatively he was treated with systemic chemotherapy and local radiation. Eight months postoperatively he remains alive despite local progression. CONCLUSIONS: Osteogenic sarcoma can occur as a secondary malignancy years after the successful treatment of orbital rhabdomyosarcoma with external beam radiation and chemotherapy. After orbital radiation, subjects should undergo routine lifelong examinations.     

Rhabdomyosarcoma and Late Malignant Melanoma of the Orbit

Forty-five years following surgical excision and radiation for a childhood rhabdomyosarcoma of the left orbit, a patient with primary lymphedema developed an ipsilateral malignant melanoma of the anterior orbital tissue. This was excised, but a metastasis of the melanoma occurred in the contralateral upper lid. This is the first case report of treated rhabdomyosarcoma of the orbit followed by a second primary tumor occurring in the field of radiation.     

Ophthalmic involvement as a presenting feature of nonorbital childhood parameningeal embryonal rhabdomyosarcoma

OBJECTIVE: To describe presenting ophthalmic signs and symptoms in children with parameningeal rhabdomyosarcoma. DESIGN: Retrospective, noncomparative case series. PARTICIPANTS: Twenty-three children with parameningeal rhabdomyosarcoma treated from 1978 through 1998. MAIN OUTCOME MEASURES: Each patient's presenting symptoms and history, the ophthalmic signs at presentation, the location of the tumor on computed tomographic scanning, the pathologic diagnosis after tumor biopsy, and the child's outcome after chemotherapy and radiotherapy. RESULTS: Eight of 23 patients with parameningeal rhabdomyosarcoma had ophthalmologic signs at presentation. All patients had sixth nerve palsies, and four had additional third nerve palsies. Fifth and seventh nerve involvement was seen in three children each, and two manifested additional fourth nerve palsies. In two patients, invasion of the optic canals and posterior orbit resulted in unilateral blindness in one and marked unilateral visual loss in the other. In no patient was the symptomatic history longer than 12 weeks. Seven of eight patients were treated with a combination of surgery, chemotherapy, and radiotherapy. The mean survival time for five patients who died from parameningeal rhabdomyosarcoma associated with ophthalmic signs was 27.2 months. Three patients are currently alive, with a mean survival time of 33.7 months after diagnosis. The survival time of 12 patients with parameningeal rhabdomyosarcoma and without ophthalmologic signs at presentation was better, in that nine are alive, with a mean survival time of 54 months. CONCLUSIONS: Advanced parameningeal rhabdomyosarcoma with skull base invasion may present with ophthalmic signs. These patients sought treatment late and had advanced tumors because their initial signs and symptoms were often attributed to more common ailments. Usually, the onset of the cranial nerve palsy initiated referral to the tertiary care center. The sixth nerve was the most vulnerable. Further invasion of the skull base or cavernous sinus may cause additional third, fourth, and fifth nerve palsies. The optic nerve was involved when the optic canals and orbit were encroached on by the tumor. The prognosis for survival was poor when these tumors were accompanied by ophthalmic signs.     

Abordaje multidisciplinario de un rabdomiosarcoma embrionario orbitario: a propósito de un caso

Of the head and neck tumoral lesions in children and adolescents, 5 to 10% are primary malignant tumors. Among these tumors, orbital rhabdomyosarcoma stands out, which is the most common primary soft tissue sarcoma in children. Its diagnosis requires a high degree of clinical suspicion, and it can be corroborated with a series of examinations, in order to stage it and carry out the appropriate treatment. Currently, surgery and chemotherapy are the primary treatments, and the use of conventional radiotherapy is limited to cases where previous treatments fail or there is a risk of recurrence. The following case report aims to expose the clinical picture, diagnosis, staging and integral treatment of orbital rhabdomyosarcoma, as well as the interdisciplinary management that was performed to improve the patient's prognosis.     

眼眶横纹肌肉瘤rasp21,p53蛋白表达及其与预后的关系

目的 研究ｒａｓｐ２１，ｐ５３癌基因蛋白产物在眼眶横纹肌肉瘤中的表达及其与预后的关系。方法 对确诊的２１例眼眶ＲＭＳ用免疫组化ＡＢＣ法标记ｒａｓｐ２１，ｐ５３蛋白。结果 发现ｒａｓｐ２１，ｐ５３在眼眶ＲＭＳ的阳性率分别为４２．９％和７６．２％。随访的１３例患者中，ｐ５３阳性表达组１００％预后不好，ｒａｓｐ２１／ｐ５３阳性表达组８０％预后不好，ｒａｓｐ２１／ｐ５３阴性组２５％预后不好。     

^125I粒子植入放疗在儿童眼眶横纹肌肉瘤综合治疗中的应用

目的:观察 ^125I粒子植入放疗在儿童眼眶横纹肌肉瘤综合治疗中的效果与并发症。 方法:回顾性系列病例研究。收集2013年1月至2017年1月在郑州大学第一附属医院收治的8例儿童眼眶横纹肌肉瘤患儿的临床资料。所有患儿均经手术切除和病理检查确诊,根据WHO制定的病理组织学分型标准分为胚胎型6例,腺泡型2例。根据美国横纹肌肉瘤研究协作组(IRSG)分期标准分为Ⅰ期1例,Ⅱ期3例,Ⅲ期4例。所有患儿均在儿科规范化疗,计划在肿瘤切除术后1个月行 ^125I粒子植入放疗。随访项目包括肿瘤控制情况和放疗并发症情况。 结果:4例手术中肉眼切除干净,另4例因边界欠清晰未切除干净。7例患者按照各自预定方案完成了化疗,1例未完成化疗并放弃后续治疗。完成综合性治疗的7例患儿4年无瘤生存率为100%,中位随访时间48(37~66)个月。未完成综合治疗方案者1例,因脑转移死亡(眼眶部位稳定控制)。穿刺并发症:1例穿刺道出血。放疗并发症:早期(≤6个月)有角膜刺激征5例,睫毛眉毛脱失5例,局部皮肤色素沉着2例;晚期(>6个月)有视力下降5例,眼表新生血管性病变5例,局部皮肤色素沉着5例,皮下组织萎缩、硬化4例,角膜刺激征3例,睫毛眉毛脱失2例,新生血管性青光眼2例(其中角膜溃疡、穿孔并摘除眼球1例)。所有患儿均无眼眶及面骨发育异常,存活的7例患儿中有6例完整保留眼球,3例视力无影响。结论:包含 ^125I粒子植入内照射的综合治疗可较好地治疗儿童局限于眼眶内的横纹肌肉瘤,但粒子特有的并发症需要进一步观察。     

眼附属器横纹肌肉瘤的临床病理分析

12例原发于眼附属器的横纹肌肉瘤,男11例,女1例。最大年龄9岁,最小年龄3个月,平均4.6岁。12例均为单侧,其中眼眶9例,眼睑2例,球结膜1例。12例组织病理学分型:胚胎型8例,腺泡状型2例,多形性型2例。8例作免疫组化检查:肌红蛋白(Myoglobin)5例阳性,3例可疑阳性;结蛋白(Desmin)8例均阳性。免疫组化检验对诊断及鉴别诊断有重要意义。本组术后随访10例,除2例化疗1疗程后失访外,其余8例2例复发,3例在放疗及或化疗过程中病情不能控制而放弃治疗,2例放疗后半年因复发死亡,1例放疗后8个月健在。本组病例疗效差,除肿瘤恶性程度高外,起病年龄低,治疗不及时及治疗经验不足也是重要因素。本文尚讨论其临床病理诊断及鉴别诊断。     

Aeolus Press awards first OPG medal to Dr. Marcelle Jay

In 1972, the Intergroup Rhabdomyosarcoma Study standardized the classification and treatment of orbital rhabdomyosarcoma. It established chemotherapy with external beam radiotherapy as the standard of treatment, yet there was no comparison to treatment with external beam radiotherapy alone. We retrospectively examined the charts of patients with orbital rhabdomyosarcoma treated solely with external beam radiotherapy for the following data: age at diagnosis, gender, tumor recurrence, and tumor-related mortality. We followed 24 patients (mean follow-up 7·9 years) treated with external beam radiotherapy alone. The average age at diagnosis was 5·5 years; there were 15 males and 9 females. Three patients (12.5%) suffered tumor recurrence and there was one (4.2%) tumor-related death. When compared to the Intergroup Rhabdomyosarcoma Study, results suggest that chemotherapy with external beam radiotherapy may offer no advantage to external beam radiotherapy alone for the treatment of orbital rhabdomyosarcoma.     

Long-term follow-up and prognosis of orbital apex syndrome resulting from nasopharyngeal rhabdomyosarcoma

PURPOSE: Nasopharyngeal rhabdomyosarcoma may present with a variety of ophthalmic symptoms. Direct extension of the tumor into the orbital apex can lead to ophthalmoplegia and loss of vision. The prognosis for recovery of vision and ocular motility in patients with an orbital apex syndrome due to nasopharyngeal rhabdomyosarcoma is examined. DESIGN: Retrospective case series. METHODS: Six eyes from four patients with nasopharyngeal rhabdomyosarcoma who presented to the Children';s Hospital of Philadelphia with a clinical orbital apex syndrome were identified. Complete ophthalmic examination, including visual acuity and extraocular motility at the time of presentation, was reviewed. Tumor extension into the orbital apex was confirmed radiographically. Follow-up ophthalmic evaluations were reviewed for all patients with an average follow-up of 5.5 +/- 3.1 years (range 1 to 8 years). RESULTS: Six eyes of four patients had limited ocular ductions along with marked loss of vision at presentation. All patients were treated with chemotherapy and radiation, with reduction of tumor mass. Ocular motility recovered in all patients, occurring by an average of 2.2 +/- 1.8 months after initiation of therapy. Four of six eyes had little or no recovery of visual acuity detected at long-term follow-up. CONCLUSIONS: Patients with ocular motor deficits in orbital apex syndromes caused by extension of nasopharyngeal rhabdomyosarcoma have an excellent prognosis for recovery after treatment of the tumor. The long-term prognosis for visual recovery, however, is poor.