Abstract
Diffuse-type neurofibroma, an uncommon variant of neurofibroma, is associated with neurofibromatosis type 1 in ∼60% of cases. Typically presenting in young adults as ill-defined plaque-like dermal/subcutaneous thickening, most cases are located on the trunk or the head and neck region. Malignant transformation is extremely rare. Nine cases of malignant peripheral nerve sheath tumor (MPNST) arising in diffuse-type neurofibroma (identified in consult files) are described, including clinicopathologic features and follow-up. Five patients were male and 4 female, aged 31 to 59 years (median 49 y). All diffuse-type neurofibromas contained Meissner corpuscles, with tumor sizes ranging between 3.6 and 45 cm (median, 7.4 cm). Five patients had a clinical history of neurofibromatosis type 1, and 1 had Klippel-Trénaunay-Weber syndrome. Six tumors arose on the trunk and 1 each on the leg, arm, and scalp. Increased cellularity, nuclear atypia, and mitoses (range, 1 to 63/50 high-power fields) indicated transition to MPNST, classified as low grade in 5, intermediate to high grade in 1, and high grade in 3 cases, 1 of which exhibited heterologous angiosarcomatous differentiation. S-100 expression was quite strong and diffuse in the neurofibroma components and less extensive or weaker in MPNST. Follow-up, available for all patients (median, 80.5 mo, except 1 recent case), revealed that 1 patient developed local recurrence after 9 months; 1 with metastases at the time of initial diagnosis died 1 month after tumor resection. All other patients were alive without evidence of disease at 15 to 145 months (median, 83 mo). Diffuse-type neurofibroma may show transformation to MPNST in very rare instances. It is important to be aware of possible malignant change, requiring thorough sampling of resection specimens and long-term clinical follow-up of patients with unexcised lesions.
摘要
弥漫型神经纤维瘤,是神经纤维瘤一种不常见的亚型,约60%的病例与I型神经纤维瘤病有关。一般见于年轻成人,表现为真皮/皮下界限不清、斑块状增厚,大多位于躯干或头颈部。恶性转化很罕见。
该文章描述了9例源自弥漫型神经纤维瘤的恶性外周神经鞘膜瘤(经会诊证实),包括临床特征及其随访情况。其中男性5例,女性4例,年龄31—59岁(中位年龄49岁)。所有9例弥漫型神经纤维瘤均可见触觉小体,肿瘤大小3.6—45厘米(平均7.4厘米)。5例有I型神经纤维瘤病临床病史,1例有Klippel-Trénaunay-Weber综合征。6例发生于躯干,发生于腿、手臂和头皮各1例。细胞密集丰富、核非典型性及核分裂象(范围1—63/50HPF)提示向MPNST转化,5例为低级别,1例为中到高级别,3例为高级别,其中1例表现为异源性血管肉瘤样分化。S-100在神经纤维瘤成分中弥漫强阳性表达,在MPNST成分中表达较弱。对所有9例患者进行了随访(平均80.5个月,除了最近期的1例)。
弥漫型神经纤维瘤在极少数情况下可以发生向MPNST的转化。关键是要意识到弥漫型神经纤维瘤有可能恶性变,需要对切除的标本仔细取材,对未行切除的病变要长期临床随访。
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