外周神经纤维瘤弥漫型的高频超声检查

目的探讨外周神经纤维瘤弥漫型的声像图特征.方法回顾性分析经病理证实的外周神经纤维瘤弥漫型患者7例,观察病变的位置、大小、形态、边界、回声特点、血流分布等.结果所有患者均表现为边界不清的皮下软组织增厚(7/7),多数病变区呈弥漫性回声增强伴多发条带状或结节状低回声(6/7),多数病变区内见大量血流信号(6/7).结论神经纤维瘤弥漫型的声像图表现具有一定特征性,结合临床表现超声容易做出正确诊断.     

Peripheral nerve sheath tumors: an update and review of diagnostic challenges

Peripheral nerve sheath tumors (PNSTs) are one of the more common soft tissue neoplasms encountered in the daily surgical pathology practice, most of which have classic histologic features. There are, however, some common diagnostic challenges encountered by surgical pathologists and neuropathologists, as well as controversies regarding classification and grading of PNSTs. As molecular studies advance and novel targeted therapies are developed, it has become imperative that we become familiar with the diagnostic criteria for these common neoplasms and their potential mimics.     

体表神经纤维瘤的手术治疗探讨

目的：探讨体表神经纤维瘤的切除及创面修复的方法。方法：24例患者均行手术,其中切除后直接缝合13例,皮瓣转移6例,皮片移植4例,1例行肿瘤切除术同时行截肢术。术中采用肿胀麻醉技术,控制性降压技术等治疗方法。结果：20例患者Ⅰ期愈合,4例部分伤口裂开,经换药而愈。有两例巨大神经纤维瘤术中予以输血,其余病人未予输血。结论：对体表神经纤维瘤行切除手术,术中采用合适技术,可显著减少术中出血,降低手术风险,创面修复应根据瘤体大小及部位选择不同的修复方法。     

Back to the future: proceedings from the 2010 NF Conference

The neurofibromatoses (NF) encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect 100,000 Americans; over 2 million persons worldwide; and are caused by mutation of tumor suppressor genes. Individuals with NF1 in particular may develop tumors anywhere in the nervous system; additional manifestations can include learning disabilities, bone dysplasia, cardiovascular defects, unmanageable pain, and physical disfigurement. Ultimately, the NFs can cause blindness, deafness, severe morbidity, and increased mortality and NF1 includes a risk of malignant cancer. Today there is no treatment for the NFs (other than symptomatic); however, research efforts to understand these genetic conditions have made tremendous strides in the past few years. Progress is being made on all fronts, from discovery studies-understanding the molecular signaling deficits that cause the manifestations of NF-to the growth of preclinical drug screening initiatives and the emergence of a number of clinical trials. An important element in fuelling this progress is the sharing of knowledge, and to this end, for over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share ideas and build collaborations. The 2010 NF Conference held in Baltimore, MD June 5-8, 2010 hosted over 300 NF researchers and clinicians. This paper provides a synthesis of the highlights presented at the Conference and as such, is a "state-of-the-field" for NF research in 2010.     

Phase 2 randomized,flexible crossover,double-blinded,placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas

Background

RAS is dysregulated in neurofibromatosis type 1 (NF1) related plexiform neurofibromas (PNs). The activity of tipifarnib, which blocks RAS signaling by inhibiting its farnesylation, was tested in children and young adults with NF1 and progressive PNs.

Methods

Patients aged 3–25 years with NF1-related PNs and imaging evidence of tumor progression were randomized in a double-blinded fashion to receive tipifarnib (200 mg/m² orally every 12 h) or placebo (phase A) and crossed over to the opposite treatment arm at the time of tumor progression (phase B). PN volumes were measured with MRI, and progression was defined as ≥20% volume increase. Time to progression (TTP) in phase A was the primary endpoint, and the trial was powered to detect whether tipifarnib doubled TTP compared with placebo. Toxicity, response, and quality of life were also monitored.

Results

Sixty-two patients were enrolled. Tipifarnib and placebo were well tolerated. On phase A, the median TTP was 10.6 months on the placebo arm and 19.2 months on the tipifarnib arm (P = .12; 1-sided). Quality of life improved significantly compared with baseline on the tipifarnib arm but not on the placebo arm. Volumetric tumor measurement detected tumor progression earlier than conventional 2-dimensional (WHO) and 1-dimensional (RECIST) methods.

Conclusions

Tipifarnib was well tolerated but did not significantly prolong TTP of PNs compared with placebo. The randomized, flexible crossover design and volumetric PN assessment provided a feasible and efficient means of assessing the efficacy of tipifarnib. The placebo arm serves as an historical control group for phase 2 single-arm trials directed at progressive PNs.     

Chest wall lesions

Chest wall lesions in childhood include a wide range of pathologies. Benign lesions include lipoma, neurofibroma, lymphangioma, haemangioma and mesenchymal hamartoma. Malignant lesions include neuroblastoma, rhabdomyosarcoma, Ewings sarcoma, Askin tumour and primitive neuroectodermal tumours. Manifestations of systemic diseases such as leukaemia, lymphoma, Langerhans cell histocytosis and infections such as tuberculosis and actinomycosis may also cause chest wall lesions. The imaging characteristics of the above are reviewed but only a minority of lesions show diagnostic imaging characteristics. Most lesions require biopsy and histopathological examination for definitive diagnosis. The role of different imaging modalities is discussed, with an emphasis on magnetic resonance imaging for demonstrating lesion morphology and local spread, with computed tomography and nuclear medicine being used mainly to assess remote disease.     

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome

Four unrelated patients having an unusual clinical phenotype, including multiple peripheral nerve sheath tumors, are reported. Their clinical features were not typical of any known familial tumor syndrome. The patients had multiple painful neurofibromas, including bilateral orbital plexiform neurofibromas, and spinal as well as mucosal neurofibromas. In addition, they exhibited a marfanoid habitus, shared similar facial features, and had enlarged corneal nerves as well as neuronal migration defects. Comprehensive NF1, NF2 and SMARCB1 mutation analyses revealed no mutation in blood lymphocytes and in schwann cells cultured from plexiform neurofibromas. Furthermore, no mutations in RET, PRKAR1A, PTEN and other RAS-pathway genes were found in blood leukocytes. Collectively, the clinical and pathological findings in these four cases fit no known syndrome and likely represent a new disorder.     

Natural course and characteristics of cutaneous neurofibromas in neurofibromatosis 1

Neurofibromatosis 1 (NF1) is characterized by cutaneous, neurological and osseous manifestations. Most NF1 patients develop cutaneous neurofibromas. However, time‐dependent change with aging and the predilection site of cutaneous neurofibromas remain unclear. To clarify the natural course and characteristics of cutaneous neurofibromas, a retrospective study was conducted for 57 NF1 patients who were treated at the Department of Dermatology of Tottori University Hospital between January 2007 and April 2016. For each patient, we investigated the time‐dependent changes and the numbers of cutaneous neurofibromas in four body surface regions. There was a positive correlation between age and number of cutaneous neurofibromas (r = 0.75, P < 0.001). Cutaneous neurofibromas were located on the trunk (60.2%), lower limbs (16.1%), upper limbs (14.4%), and head and neck (9.2%). There was no significant relationship between each body type (e.g. obese or thin) and cutaneous neurofibromas. With respect to the year‐to‐year percentage change in cutaneous neurofibromas, the average annual rate of increase was 0.21 (range, ?0.71 to 1.2). The number of cutaneous neurofibromas had increased in approximately 61% of the patients 1 year later. Our data will enable physicians to estimate the overall state of cutaneous neurofibromas in NF1 and will be useful for handling cutaneous manifestations before they become a serious condition.