Clinically diagnosed glomus vagale tumour treated with external beam radiotherapy: A review of the published reports

The aim of the study was to present a case of clinically diagnosed glomus vagale in a 42‐year‐old Aboriginal woman treated with external beam radiotherapy and to carry out a review of the published work. The details of presentation, diagnosis, treatment and follow up of the patient are discussed. A review of the published work was carry out using MEDLINE database with respect to aetiology, clinical presentation, diagnosis, treatment and expected outcomes. Glomus vagale tumours are a subtype of paragangliomas of the head and neck derived from extra‐adrenal paraganglia of the autonomic nervous system. They are typically slow‐growing, benign masses that are often asymptomatic and rarely show signs of hypersecretion. Treatment options include embolization, surgical excision, radiotherapy or surveillance. Radiotherapy is often used for extensive lesions where surgery is considered prohibitively morbid. Following treatment relapse rates are low with the most patients achieving long‐term control. Our patient presented with an extensive lesion compressing the wall of the carotid artery and invading the jugular fossa to involve the clivus. Surgery was offered; however, the patient opted for external beam radiotherapy. A dose of 45 Gy in 25 fractions was delivered with 6‐MV photons employing a CT‐planned, wedge pair technique. Glomus vagale tumours are rare and should be managed in a multidisciplinary head and neck clinic with both surgical and radiation oncology opinions offered. The toxicities and outcomes of both methods should be discussed.     

Multidisciplinary approach in the treatment of malignant paraganglioma of the glomus vagale: a case report

Malignant paraganglioma of the glomus vagale is a rare tumor entity originating from paraganglia or glomus cells. It typically affects middle age. It differs from benign paraganglioma because of its rapid growth and more aggressive clinical behavior. We report the case of a 40-year-old man presenting with a 5 cm lesion in the upper right cervical region detected by computed tomography (CT) and magnetic resonance imaging (MRI), which also showed enlargement of ipsilateral spinal and jugulodigastric lymph nodes with contrast enhancement. Clinical manifestations at diagnosis included a partial neurological deficit involving the right cranial nerves X, XI and XII. Tumor vascularization was assessed by digital angiography. The tumor mass was entirely removed by a right cervical approach with en-bloc resection with the regional lymph nodes. Histopathological examination showed a paraganglioma with cellular pleomorphism, necrotic microfoci, perineural infiltration and angiogenesis. Massive metastases in two of three jugulodigastric and one spinal lymph nodes on the right side were also detected. Postoperative workup included MRI, positron emission tomography (PET)/CT, meta-iodine-benzyl-guanidine (MIBG) scan, liver ultrasound and chest radiography. Subsequently, the patient underwent conformal radiotherapy with concomitant cisplatin administration. At the last clinical and radiological follow-up examination 5 years after completion of treatment, the patient was free of tumor recurrence. The integrated treatment by surgery and chemoradiation was feasible and effective in the management of this rare case of malignant paraganglioma of the glomus vagale. Multicenter studies should be done to increase the knowledge of tumor presentation and natural history and to analyze the possible treatment options.     

Paragangliomas of the head and neck

Paragangliomas are uncommon vascular tumours of the head and neck. Eighteen such cases were treated during a six year period. Of the five patients having glomus tympanicum tumours, 3 required a tympanotomy, one a transmastoid excision while one needed a modified Fisch’s type A technique. Eight glomus jugulare tumours were excised by a modified Fisch’s type A approach. One of the four cases with carotid body tumours required carotid replacement by a saphenous vein graft. A glomus vagale tumour was excised transcervically by a median mandibulotomy. Three patients had bilateral tumours. Postoperatively lower cranial nerve palsy persisted in three cases. Two patients having residual intracranial disease received postoperative irradiation. Contrast enhanced CT in axial and coronal planes was found to obviate the need for angiography in all but jugulare tumours. There was no recurrence of symptoms in any case during 6 months to 6 years of followup.     

Chemodectoma of the head and neck: results of treatment in 84 patients.

Eighty-four patients with chemodectoma of the head and neck presented to the Royal Marsden Hospital between 1949 and 1985. For tumors arising at the skull base (glomus jugulare and glomus tympanicum) 46 were treated with radiotherapy alone resulting in an actuarial local control rate of 73% at 25 years; 13 were treated with surgery plus radiotherapy with no recurrences during a median follow-up of 9 years; 4 had surgery alone but all recurred by 7 years. For tumors of the soft tissues of the neck (carotid body and glomus vagale) 13 were treated with surgery alone with an actuarial control rate of 54% at 15 years; 4 were treated with radiotherapy which resulted in local control at 1, 2, 8 and 11 years; and one patient who received both surgery and radiotherapy remained controlled at 1 year. Although comparison between radiotherapy and surgery in terms of tumor control is not simple, the case is argued for more frequent use of radiotherapy at all sites. This case is strengthened by minimal morbidity from radiotherapy in doses which appear effective: in the range of 45-50 Gy in 25 daily fractions over 5 weeks.     

基于Orphanet数据库对国内肿瘤类罕见病的多维度分类的探讨

目的:利用Orphanet数据库筛选我国罕见病目录中的肿瘤类疾病,并对其进行学科分类,以期促进罕见病的多维度分类方法及数据库的建立.方法:以Orphanet数据库的分类方法为准,初步筛选出罕见肿瘤类疾病;通过权威期刊文献数据库检索其相关文献,整理学科分类数据,结合肿瘤类疾病的临床表现及症状进行分析.结果:共筛选出24种...     

有机稀土化合物对SOS反应的抑制作用①

本文应用ＳＯＳ显色法研究了三种有机稀土化合物及其相应鳌合剂的抗诱变作用。抗坏血酸稀土、柠檬酸稀土及乙二胺四乙酸稀土浓度分别在０．５～２．５ｍｇ／ｍｌ、１～２Ｏｍｇ／ｍｌ及５～４Ｏｍｇ／ｍｌ时，对已知致癌物亚硝基胍和３，４—苯并芘诱导的ＳＯＳ反应具有抑制作用，且有较好的剂量效应关系。而单纯的螫合剂抗坏血酸抗诱变效果很好，柠檬酸显示微弱的抗诱变性，乙二胺四乙酸二钠则无抗诱变作用。     

Current status and future outlook for patient-derived cancer models from a rare cancer research perspective

Rare cancers are a group of approximately 200 malignancies with extremely low incidences and with a wide variety of genotypes and phenotypes. Collectively, they are more common than any single malignancy. However, given the small numbers of individuals diagnosed with rare cancers, it is difficult to design clinical trials with sufficient patient numbers. Therefore, few effective anticancer drugs have been developed, and evidence-based medicine is not always feasible for rare cancers. Consequently, their clinical outcomes are generally poorer. Cancer research requires adequate models that faithfully recapitulate molecular features and reproduce treatment responses of the original tumors. Such models allow us to focus on more efficacious drugs in the clinical studies. For rare cancers, patient-derived cancer models are particularly important because the enrollment of sufficient patients is rarely attainable within a reasonable period of time. However, extremely few models are available for rare cancers. For example, cell lines and xenografts are available for only a limited number of histological subtypes of sarcomas; therefore, most sarcoma research is performed without such models, and a lack of adequate cancer models causes a lag in therapeutic development. The establishment of novel rare cancer models will dramatically facilitate rare cancer research and treatment development in the near future. This review focuses on the status of patient-derived rare cancer models and discusses their pivotal problems and possibilities, using sarcomas as a representative rare cancer type. Multi-institutional collaboration will help address the scarcity of patient-derived rare cancer models.     

Epidemiology of rare cancers and inequalities in oncologic outcomes

Rare cancers epidemiology is better known compared to the other rare diseases. Thanks to the long history of the European population-based cancer registries and to the EUROCARE huge database, the burden of rare cancers has been estimated the European (EU28) population. A considerable fraction of all cancers is represented by rare cancers (24%). They are a heterogeneous group of diseases, but they share similar problems: uncertainty of diagnosis, lack of therapies, poor research opportunities, difficulties in clinical trials, lack of expertise and of centres of reference. This paper analyses the major epidemiological indicators of frequency (incidence and prevalence) and outcome (5-year survival) of all rare cancers combined and of selected rare cancers that will be in depth treated in this monographic issue. Source of the results is the RARECAREnet search tool, a database publicly available. Disparities both in incidence and survival, and consequently in prevalence of rare cancers were reported across European countries. Major differences were shown in outcome: 5-year relative survival for all rare cancers together, adjusted by age and case-mix, varied from 55% or more (Italy, Germany, Belgium and Iceland) and less than 40% (Bulgaria, Lithuania and Slovakia). Similarly, for all the analyzed rare cancers, a large survival gap was observed between the Eastern and the Nordic and Central European regions. Dramatic geographical variations were assessed for curable cancers like testicular and non epithelial ovarian cancers. Geographical difference in the annual age-adjusted incidence rates for all rare cancers together varied between >140 per 100,000 (Italy, Scotland, France, Germany, and Switzerland) and <100 (Finland, Portugal, Malta, and Poland). Prevalence, the major indicator of public health resources needs, was about 7–8 times larger than incidence. Most of rare cancers require complex surgical treatment, thus a multidisciplinary approach is essential and treatment should be provided in centres of expertise and/or in networks including expert centres. Networking is the most appropriate answer to the issues pertaining to rare cancers. Actually, in Europe, an opportunity to improve outcome and reduce disparities is provided by the creation of the European Reference Networks for rare diseases (ERNs). The Joint Action of rare cancers (JARC) is a major European initiative aimed to support the mission of the ERNs. The role of population based cancer registries still remains crucial to describe rare cancers management and outcome in the real word and to evaluate progresses made at the country and at the European level.     

Metastatic mammary carcinoma of the middle ear

Malignancies of the middle ear and mastoid are rare and secondaries in the ear are extremely rare. A rare case of metastic adenocarcinoma from the breast is presented herewith.     

Myxoid solitary fibrous tumour of the ischiorectal fossa.

Myxoid solitary fibrous tumours are a rare morphological sub-type of the rare solitary fibrous tumours. This case report appears to be the first reported ischiorectal occurrence of this rare tumour.     

Current state of therapeutic development for rare cancers in Japan,and proposals for improvement

This article discusses current obstacles to the rapid development of safe and effective treatments for rare cancers, and considers measures required to overcome these challenges. In order to develop novel clinical options for rare cancers, which tend to remain left out of novel therapeutic development because of their paucity, efficient recruitment of eligible patients, who tend to be widely dispersed across the country and treated at different centers, is necessary. For this purpose, it is important to establish rare cancer registries that are linked with clinical studies, to organize a central pathological diagnosis system and biobanks for rare cancers, and to consolidate patients with rare cancers to facilities that can conduct clinical studies meeting international standards. Establishing an all‐Japan cooperative network is essential. Clinical studies of rare cancers have considerable limitations in study design and sample size as a result of paucity of eligible patients and, as a result, the level of confirmation of the efficacy and safety shown by the studies is relatively low. Therefore, measures to alleviate these weaknesses inherent to external conditions need to be explored. It is also important to reform the current research environment in order to develop world‐leading treatment for rare cancers, including promotion of basic research, collaboration between industry and academia, and improvement of the infrastructure for clinical studies. Collaboration among a wide range of stakeholders is required to promote the clinical development of treatment for rare cancers under a nationwide consensus.     

Synchronous Germ Cell Tumors of the Bilateral Testes: A Report of a Case and a Review of the Japanese Literature

Bilateral testicular germ cell tumor is a rare entity clinicallyand pathologically. However, simultaneous development of thetumor in the contralateral testis is not so rare in proportionas generally expected. Herein we report a case of a synchronouslyoccurring tumors of the bilateral testes and discuss the possiblepathogenesis of this rare condition.     

Lack of association of rare alleles in the HRAS variable number of tandem repeats (VNTR) region with adult glioma

HRAS rare alleles have been associated with the increased susceptibility to a variety of cancers. In the present study we examined the hypothesis that HRAS rare alleles are a risk factor for adult glioma in a population-based case-control study of adult glioma in six San Francisco Bay Area counties. We compared the prevalence of rare alleles in the variable number of tandem repeats region of HRAS in the germline DNA from 73 white adults who had gliomas with that of 65 controls. Overall, the prevalence of rare alleles in cases was not different from the prevalence of those in controls according to two definitions of rare alleles. We found that 25 of 73 (34%) of cases versus 25 of 65 (38%) of controls had at least one allele that was not 30, 46, 69, or 87 repeats; 4 of 73 (5%) of cases versus 6 of 65 (9%) of controls carried one or more alleles with 33, 39, 42, 53, 59, 63, 68, 105, or 114 repeats. The proportion of rare alleles was somewhat higher among subjects with anaplastic astrocytoma. Among women, cases were less likely than controls to have HRAS rare alleles, whereas among men, cases were slightly more likely to have HRAS rare alleles, but none of these results approach statistical significance. Our data do not suggest an excess of HRAS rare alleles among adult glioma cases.     

肺转移瘤的少见CT特征

 目的 分析肺转移瘤的少见CT表现。 方法 回顾分析17例资料完整的肺转移瘤的CT表现,探讨其中空洞性、钙化性、胸膜钙化性转移的少见CT表现与原发肿瘤的因果关系。 结果 17例肺转移瘤的少见表现中,空洞性肺转移瘤13例,钙化性肺转移瘤4例,胸膜钙化性转移瘤1例。 结论 肺转移瘤可以表现出多种不典型征象,认识这些征象对临床诊断有重要意义。     

European Journal of Cancer’s Biennial report on soft tissue and visceral sarcomas or the rapid evolution of treatment concepts in sarcomas

Soft tissue and visceral sarcoma gather a large group of rare to very rare cancers and locally aggressive connective tissue tumours. Novel concepts on histological and molecular classification, optimal management of patients, systemic adjuvant and neoadjuvant treatment have been emerging in the last 5 years. In the present publication, we review and summarise significant changes which impact on disease management in this group of rare cancers.     

Pathologic Rupture of the Spleen as the Presenting Symptom of Primary Splenic Non-Hodgkin Lymphoma

Pathologic splenic rupture is defined as the spontaneous rupture of a diseased spleen and is quite rare. It is usually associated with oncologic, infectious, and hematologic diseases and more seldom with other rare causes. Pathologic splenic rupture related to hematologic malignancy seems to be rare with only 136 cases reported from 1861 until 1996 and a few cases thereafter. Non-Hodgkin lymphoma and acute myeloid leukemia are most frequently reported followed by chronic myeloid leukemia and lymphoblastic acute leukemia. However, even in cases of non-Hodgkin lymphoma, pathologic splenic rupture as the presenting symptom of the disease is rare as is the presence of primary splenic lymphoma. Conservative treatment is not an option, while operative intervention and emergency splenectomy is the only feasible treatment. We present a very rare case of pathologic rupture of primary splenic lymphoma which was the presenting symptom of the disease.     

Rosai dorfman disease — an unusual presentation: A case report

Rosai Dorfman Disease (Sinus Histiocytosis with massive lymphadenopathy) is a rare self-limiting histiocytic disorder of unknown etiology usually presenting with cervical lymphadenopathy and haematological abnormalities. Extra-nodal presentation is rare . This ease is such a rare presentation of Rosai Dorfman Disease.     

Using real world data to support regulatory approval of drugs in rare diseases: A review of opportunities,limitations & a case example

Conducting clinical research in patients with rare diseases presents a variety of challenges. At the same time, rare diseases represent a large area of unmet medical need with a significant burden of morbidity throughout the world. One of the most common issues with designing clinical trials for rare disease populations is that the gold-standard randomized controlled trial design is often not feasible in these small and usually geographically dispersed populations. Real world data therefore has particular relevance in the rare disease setting, where it may be used as a comparator for single-arm treatment trials and in support of submissions to regulatory agencies for drugs to treat these conditions. In this report, we review the potential utility and limitations of external controls for regulatory approval of drugs in rare diseases and present a recent case example of the successful utilization of external controls in the Neurofibromatosis type 1 (NF1) population.