van Noesel M M, Hählen K, Hakvoort-Cammel F G, Egeler R M
Division of Pediatric Oncology, Sophia Children's Hospital, Rotterdam, The Netherlands.
Cancer. 1997 Sep 1;80(5):834-43.
Despite the excellent prognosis for neuroblastoma 4S (NBL 4S; with S indicating "special"), 10-25% of these patients nevertheless do not survive. Since the first description of this subgroup of disseminated neuroblastoma with a favorable natural outcome, treatment modalities have become milder. Current treatment strategies range from observation with supportive care to full cycles of chemotherapy, radiation therapy, and/or surgical removal of the primary tumor.
A recent case of NBL 4S seen at the Sophia Children's Hospital led the authors to review their patient charts from 1971 onward, as well as the literature, for the treatment modalities used and the outcome in treated versus nontreated patients.
In addition to the presented case and five additional cases from the authors' patient files, the literature contained 113 reported cases. Of a total of 119 cases, 33 patients died, 12 as a result of hepatomegaly with renal impairment and/or respiratory failure. All but 1 of these patients were diagnosed in the first 4 weeks of life. Of the 33 patients who died, 45% progressed to Stage 4 metastatic disease (15 of 33), a finding that appeared to be unrelated to age. N-myc amplification data were available in 30 cases. Seventeen patients had < or = 3 gene copies; 12% of these patients (2 of 17) died. In the N-myc-amplified group of patients with > 3 gene copies, 69% (9 of 13) died and another patient progressed to Stage 4 with short follow-up.
The data presented here suggest an important role for age as a prognostic factor. The very young NBL 4S patient (age < 4 weeks at diagnosis) was at high risk of dying of (respiratory) complications as a result of massive hepatomegaly. In contrast, disease progression to Stage 4 appears to be unrelated to age, but is strongly related to the presence of biologic markers in the tumor. The authors propose a therapeutic approach for very young patients and for those with unfavorable biology.
尽管神经母细胞瘤4S期（NBL 4S；S代表“特殊”）预后良好，但仍有10%-25%的此类患者无法存活。自首次描述这种具有良好自然转归的播散性神经母细胞瘤亚组以来，治疗方式已变得较为温和。当前的治疗策略包括观察并给予支持性治疗，以及进行全周期化疗、放射治疗和/或手术切除原发肿瘤。
索菲亚儿童医院近期收治的一例NBL 4S病例促使作者回顾了自1971年起的患者病历以及相关文献，以了解所采用的治疗方式以及接受治疗和未接受治疗患者的结局。
除了所呈现的病例以及作者患者档案中的另外5例病例外，文献中还报道了113例病例。在总共119例病例中，33例患者死亡，其中12例死于肝肿大伴肾功能损害和/或呼吸衰竭。这些患者中除1例之外均在出生后的前4周内被诊断出来。在33例死亡患者中，45%（33例中的15例）进展为4期转移性疾病，这一发现似乎与年龄无关。30例病例有N-myc扩增数据。17例患者的基因拷贝数≤3个；这些患者中有12%（17例中的2例）死亡。在N-myc扩增且基因拷贝数>3个的患者组中，69%（13例中的9例）死亡，另有1例患者在短期随访后进展为4期。
此处呈现的数据表明年龄作为一个预后因素具有重要作用。年龄非常小的NBL 4S患者（诊断时年龄<4周）因巨大肝肿大而死于（呼吸）并发症的风险很高。相比之下，疾病进展至4期似乎与年龄无关，但与肿瘤中生物标志物的存在密切相关。作者针对年龄非常小的患者以及生物学特性不良的患者提出了一种治疗方法。
