目的:混合性周围神经鞘瘤(HPNST)是一类新认识的周围神经鞘瘤,由至少两个神经鞘瘤特征性区域组成,神经鞘瘤,或者神经纤维瘤.文献仅由病例报告和小系列组成;因此,我们提供了一个说明性病例,并对文献中所有报道的具有神经鞘瘤成分的HPNST病例进行了分析.
方法:对文献进行系统检索,以确定世界文献中所有报道的混合神经鞘瘤-神经鞘瘤或神经鞘瘤-神经纤维瘤病例。对个别病例进行人口统计学分析,临床特征,成像,和结果。
结果:在41项研究中,共发现159例病例。杂种肿瘤倾向于出现在成年中期(中位数38.5年),主要受影响的女性(57%,89/156),作为无痛(63%,63/100)质量,或肿胀。10例患者(10/74,14%)有1例神经纤维瘤病病史,2例患者有2例神经纤维瘤病病史(2/74,3%)。大多数(78%,122/157)的案件发生在表面,最常见于下肢(25%,39/157)。神经鞘瘤-神经鞘瘤是最多的报道(86%,137/159)病理诊断,3例表现为恶性特征。2例切除后复发。
结论:HPNST往往发生在成年中期,并表现为缓慢进展,无痛,浅层质量,在成像上具有异质外观。这些实体构成了独特的诊断挑战,并且可能在文献和当前的临床实践中仍未得到充分认可。它们构成低复发或恶性转化的风险,和未来的工作有关与神经纤维瘤病和基因图谱的关联是需要的。
Hybrid peripheral nerve sheath tumors (HPNST) are a newly recognized class of peripheral nerve sheath tumor, composed of at least two areas characteristic of perineurioma, schwannoma, or neurofibroma. The literature consists only of case reports and small series; therefore, we present an illustrative case and an analysis of all reported cases of HPNST with a perineurioma component in the literature.
A systematic search of the literature was performed to identify all reported cases of hybrid perineurioma-schwannoma or perineurioma-neurofibroma in the world\'s literature. Individual cases were analyzed for demographics, clinical features, imaging, and outcomes.
A total of 159 cases were identified across 41 studies. Hybrid tumors tended to present in mid-adulthood (median 38.5 years), predominantly affected females (57%, 89/156), as a painless (63%, 63/100) mass, or swelling. Ten patients (10/74, 14%) had a history of neurofibromatosis 1, and 2 patients a history of neurofibromatosis 2 (2/74, 3%). The majority (78%, 122/157) of cases occurred superficially, most commonly in the lower extremity (25%, 39/157). Perineurioma-schwannoma was the most reported (86%, 137/159) pathologic diagnosis, with 3 cases presenting with malignant features. Two cases reocurred after resection.
HPNST tend to occur in mid-adulthood and present as slowly progressive, painless, superficial masses, with a heterogeneous appearance on imaging. These entities pose a unique diagnostic challenge and likely remain under-recognized in the literature and current clinical practice. They pose low risk of recurrence or malignant transformation, and future work regarding the association with neurofibromatosis and genetic profiles is needed.