Maher Ossama M, Khatua Soumen, Mukherjee Devashis, Olar Adriana, Lazar Alexander, Luthra Raja, Liu Diane, Wu Jimin, Ketonen Leena, Zaky Wafik
Department of Pediatrics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Unit 87, Houston, TX, 77030, USA.
Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
J Neurooncol. 2016 Mar;127(1):155-63. doi: 10.1007/s11060-015-2027-3. Epub 2015 Dec 30.
There is a paucity of literature reporting the outcome of intracranial sarcomas (IS) in children, adolescents, and young adults (CAYA). A multimodal therapeutic approach is commonly used, with no well-established treatment consensus. We conducted a retrospective review of CAYA with IS, treated at our institution, to determine their clinical findings, treatments, and outcomes. Immunohistochemistry (PDGFRA and EGFR) and DNA sequencing were performed on 5 tumor samples. A literature review of IS was also conducted. We reviewed 13 patients (median age, 7 years) with a primary diagnosis of IS between 1990 and 2015. Diagnoses included unclassified sarcoma (n = 9), chondrosarcoma (n = 2), and rhabdomyosarcoma (n = 2). Five patients underwent upfront gross total resection (GTR) of the tumor. The 5-drug regimen (vincristine, doxorubicin, cyclophosphamide, etoposide, and ifosfamide) was the most common treatment used. Nine patients died due to progression or recurrence (n = 8) or secondary malignancy (n = 1). The median follow-up period of the 4 surviving patients was 1.69 years (range 1.44-5.17 years). The 5-year progression-free survival and overall survival rates were 21 and 44 %, respectively. BRAF, TP53, KRAS, KIT, ERBB2, MET, RET, ATM, and EGFR mutations were detected in 4 of the 5 tissue samples. All 5 samples were immunopositive for PDGFRA, and only 2 were positive for EGFR. IS remain a therapeutic challenge due to high progression and recurrence rates. Collaborative multi-institutional studies are warranted to delineate a treatment consensus and investigate tumor biology to improve the disease outcome.
关于儿童、青少年和青年(CAYA)颅内肉瘤(IS)治疗结果的文献报道较少。目前通常采用多模式治疗方法,但尚未形成成熟的治疗共识。我们对在本机构接受治疗的CAYA患者的IS进行了回顾性研究,以确定其临床特征、治疗方法和治疗结果。对5份肿瘤样本进行了免疫组织化学(PDGFRA和EGFR)检测及DNA测序。同时,我们还对IS的相关文献进行了综述。我们回顾了1990年至2015年间13例初诊为IS的患者(中位年龄7岁)。诊断包括未分类肉瘤(n = 9)、软骨肉瘤(n = 2)和横纹肌肉瘤(n = 2)。5例患者接受了肿瘤的 upfront 全切除(GTR)。最常用的治疗方案是5种药物联合使用(长春新碱、阿霉素、环磷酰胺、依托泊苷和异环磷酰胺)。9例患者因病情进展或复发(n = 8)或继发恶性肿瘤(n = 1)死亡。4例存活患者的中位随访期为1.69年(范围1.44 - 5.17年)。5年无进展生存率和总生存率分别为21%和44%。在5份组织样本中的4份检测到BRAF、TP53、KRAS、KIT、ERBB2、MET、RET、ATM和EGFR突变。所有5份样本的PDGFRA免疫染色均为阳性,只有2份样本的EGFR为阳性。由于IS的进展和复发率较高,其治疗仍然是一项挑战。有必要开展多机构合作研究,以明确治疗共识并研究肿瘤生物学,从而改善疾病的治疗效果。