Massimino Maura, Barretta Francesco, Dossena Chiara, Minasi Simone, Buttarelli Francesca Romana, Biassoni Veronica, Oriani Matilde, Schiavello Elisabetta, Ficorilli Marica, Nigro Olga, Pollo Bianca, Antonelli Manila, Donofrio Vittoria, Maggioni Marco, Kool Marcel, Pecori Emilia, Vennarini Sabina, Giangaspero Felice, Gianno Francesca, Erbetta Alessandra, Chiapparini Luisa, Luksch Roberto, Barzanò Elena, Meazza Cristina, Podda Marta, Spreafico Filippo, Terenziani Monica, Bergamaschi Luca, Ferrari Andrea, Casanova Michela, Chiaravalli Stefano, Gattuso Giovanna, Modena Piergiorgio, Bailey Simon, De Cecco Loris
Pediatric Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.
Department of Clinical Epidemiology and Trial Organization, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.
Neuro Oncol. 2025 Jan 12;27(1):209-218. doi: 10.1093/neuonc/noae189.
We applied the strategy for M+ medulloblastoma across all high-risk subgroups, including LC/A histology, TP53 mutations, and MYC/MYCN amplification.
Patients over 3 years old received, after surgery, staging and histo-biological analysis, sequential high-dose-methotrexate(HD-MTX), high-dose-etoposide(HD-VP16), high-dose-cyclophosphamide(HD-Cyclo), and high-dose-carboplatin(HD-Carbo). Hyperfractionated-accelerated-radiotherapy-craniospinal(HART-CSI), administered twice daily 1.3 Gy-fractions reached a total dose tailored to the patients' age and pre-radiation response to chemotherapy(CT): 31.2 Gy if under 10-years-old and complete response(CR) or partial response(PR) obtained or absence of metastatic disease, 39 Gy in other/older patients. Boosts to posterior fossa/residual metastatic(M+) deposits were given up to a total dose of 60 Gy/9 Gy, respectively, but avoided if metastatic nodules were very big or patients were very young. Two courses of high-dose-thiotepa were delivered in case of not CR/PR after the pre-radiotherapy (RT) phase and in all M0 patients either-pre/post-HART. Subgrouping was performed where the tissue was available.
Eighty-nine patients were enrolled, with a median age of 8.8 years, and a median follow-up of 136 months. Overall survival (OS) and event-free survival (EFS) at 5/15 years were 75.9/66.5% and 68.2/65.3%, respectively; 5/28 fatal events were not related to relapse(3 developed secondary malignancies). Sex, age less than 10 years, histological subtype, presence of MYC/MYCN amplification, reduction in CSI dose, omission of RT-boosts, implementation of myeloablative therapy, presence-absence of metastases did not impact prognosis.Patients progressing after pre-HART CT(14/89) and stable-disease(SD)+PD after HART(10/89) negatively affected outcome(P < .001).Subgrouping in 66/89 patients' samples demonstrated a significantly worse EFS for patients with Sonic Hedgehog(SHH)-tumors(#15, 2 with constitutional TP53-mutations) versus groups 3 and 4(15 and 29 patients, respectively, group3/4 in 7).Patients younger than 10 received lower CSI doses if stratified according to CT response.
This strategy, partly adopted in the ongoing SIOPE protocol, confirmed improved EFS and OS over previously reported outcomes in all high-risk categories; SHH tumors appeared the most aggressive.
我们将M+型髓母细胞瘤的治疗策略应用于所有高危亚组,包括LC/A组织学类型、TP53突变以及MYC/MYCN扩增。
3岁以上患者术后接受分期及组织生物学分析,随后依次接受大剂量甲氨蝶呤(HD-MTX)、大剂量依托泊苷(HD-VP16)、大剂量环磷酰胺(HD-Cyclo)和大剂量卡铂(HD-Carbo)治疗。超分割加速放疗-全脑全脊髓(HART-CSI),每天两次,每次1.3 Gy,总剂量根据患者年龄和放疗前对化疗(CT)的反应进行调整:10岁以下且获得完全缓解(CR)或部分缓解(PR)或无转移疾病者为31.2 Gy,其他/年龄较大患者为39 Gy。对后颅窝/残留转移(M+)病灶进行加量放疗,总剂量分别达60 Gy/9 Gy,但如果转移结节非常大或患者非常年轻则避免加量。放疗前(RT)阶段未达到CR/PR的患者以及所有M0患者在HART前后均给予两个疗程的大剂量噻替派。在有组织样本的情况下进行亚组分析。
共纳入89例患者,中位年龄8.8岁,中位随访136个月。5/15年的总生存期(OS)和无事件生存期(EFS)分别为75.9/66.5%和68.2/65.3%;5/28例致命事件与复发无关(3例发生继发性恶性肿瘤)。性别、年龄小于10岁、组织学亚型、MYC/MYCN扩增的存在、全脑全脊髓放疗剂量的降低、放疗加量的省略、清髓性治疗的实施、有无转移均不影响预后。放疗前CT后进展的患者(14/89)以及放疗后疾病稳定(SD)+疾病进展(PD)的患者(10/89)对预后有负面影响(P <.001)。对66/89例患者的样本进行亚组分析显示,与3组和4组(分别为15例和29例患者,7例为3/4组)相比, Sonic Hedgehog(SHH)肿瘤患者(#15,2例有胚系TP5突变)的EFS明显更差。根据CT反应分层,10岁以下患者接受的全脑全脊髓放疗剂量较低。
正在进行的SIOPE方案部分采用了该策略,证实与先前报道的所有高危类别结果相比,EFS和OS有所改善;SHH肿瘤似乎最具侵袭性。