Kamaludin Siti Nurhazwani, Yusuf Marlina, Nicholas Warren Erwin, Paul Aaron, Teh Yong Guang
Department of Radiology, Sabah Women and Children's Hospital, Kota Kinabalu, 88400, Malaysia.
Department of Orthopedics, Sabah Women and Children's Hospital, Kota Kinabalu, 88400, Malaysia.
Radiol Case Rep. 2022 May 6;17(7):2388-2393. doi: 10.1016/j.radcr.2022.03.111. eCollection 2022 Jul.
Malignant peripheral nerve sheath tumors (MPNSTs) are rare but aggressive neoplasms associated with neurofibromatosis type 1. Specifically, children with deep plexiform neurofibromas are 18 times more likely to develop MPNSTs compared to the general population. However, there is currently no standard surveillance imaging protocol for children diagnosed with deep plexiform neurofibromatosis. We present a case of a boy with neurofibromatosis type 1 and scoliosis, who later developed MPNST. This case highlights the need for more frequent surveillance imaging and the challenges of diagnosing MPNST in a patient with scoliosis. In order to facilitate early detection of malignant transformation, we suggest annual surveillance MR imaging for patients known to have deep plexiform neurofibromatosis.
恶性外周神经鞘瘤（MPNSTs）虽罕见但具有侵袭性，与1型神经纤维瘤病相关。具体而言，患有深部丛状神经纤维瘤的儿童发生MPNSTs的可能性是普通人群的18倍。然而，目前对于诊断为深部丛状神经纤维瘤病的儿童尚无标准的监测成像方案。我们报告一例患有1型神经纤维瘤病和脊柱侧弯的男孩，其后来发展为MPNST。该病例凸显了更频繁进行监测成像的必要性以及在脊柱侧弯患者中诊断MPNST的挑战。为便于早期发现恶性转化，我们建议对已知患有深部丛状神经纤维瘤病的患者每年进行监测性磁共振成像检查。
