Gambini Claudio, Conte Massimo, Bernini Gabriella, Angelini Paola, Pession Andrea, Paolucci Paolo, Donfrancesco Alberto, Veneselli Edvige, Mazzocco Katia, Tonini Gian Paolo, Raffaghello Lizzia, Dominici Carlo, Morando Adriana, Negri Francesca, Favre Anna, De Bernardi Bruno, Pistoia Vito
Service of Pathology, Giannina Gaslini Children's Hospital, Largo Gerolamo Gaslini 5, 16148, Genova, Italy.
Virchows Arch. 2003 Jun;442(6):555-62. doi: 10.1007/s00428-002-0747-1. Epub 2003 Apr 23.
The aim of this study was to investigate the histological, immunohistochemical and molecular features of a series of children with neuroblastic tumors (NTs) and opsoclonus-myoclonus syndrome (OMS). Of 1187 children (age 0-15 years) with previously untreated NTs registered between 1979 and 1995, 15 (1.3%) had OMS at presentation. The majority of patients showed favorable biological characteristics, such as lack of amplification of the neuroblastoma-associated avian myelocytomatosis homolog MYCN oncogene and aneuploid nuclear DNA content. Tumor histology was reviewed according to the International Neuroblastoma Pathology Classification. Histology of the 15 cases of NTs with OMS was ganglioneuroblastoma, intermixed, in 10 patients; ganglioneuroma, maturing, in 1; and neuroblastoma in 4. Of 15 tumors, 12 (10 ganglioneuroblastomas, 2 neuroblastomas) showed abundant interstitial or perivascular lymphoid infiltrates, the latter often organized in secondary lymphoid follicles. The three remaining cases had only minimal infiltrates. A review of 91 cases of age- and stage-matched neuroblastic tumors not associated with OMS tested as controls showed that the degree of lymphoid infiltration was significantly lower than that detected in OMS-related tumors. Furthermore, lymphoid follicles were always present in the latter tumors, whereas they were detected only in a few ganglioneuroma, intermixed tumors from the control group. In conclusion, ganglioneuroblastoma, intermixed subtype, lack of MYCN amplification, aneuploid DNA content and presence of lymphoid infiltrates may contribute to favorable prognosis in NTs associated with OMS.
本研究的目的是调查一系列患有神经母细胞瘤（NTs）和眼阵挛-肌阵挛综合征（OMS）的儿童的组织学、免疫组织化学和分子特征。在1979年至1995年间登记的1187例先前未经治疗的NTs儿童（年龄0 - 15岁）中，15例（1.3%）在初诊时有OMS。大多数患者表现出良好的生物学特征，如神经母细胞瘤相关的禽成髓细胞瘤病毒癌基因同源物MYCN癌基因无扩增以及非整倍体核DNA含量。根据国际神经母细胞瘤病理分类对肿瘤组织学进行了复查。15例伴有OMS的NTs病例中，组织学类型为混合型神经节神经母细胞瘤的有10例；成熟型神经节瘤的有1例；神经母细胞瘤的有4例。在15个肿瘤中，12个（10个混合型神经节神经母细胞瘤，2个神经母细胞瘤）显示有丰富的间质或血管周围淋巴浸润，后者常形成次级淋巴滤泡。其余3例仅有少量浸润。对91例年龄和分期匹配的、作为对照的与OMS无关的神经母细胞瘤进行复查发现，其淋巴浸润程度明显低于在与OMS相关的肿瘤中检测到的程度。此外，后一组肿瘤中总是存在淋巴滤泡，而在对照组的少数神经节瘤、混合型肿瘤中仅检测到淋巴滤泡。总之，混合型神经节神经母细胞瘤、无MYCN扩增、非整倍体DNA含量以及存在淋巴浸润可能有助于与OMS相关的NTs的良好预后。
