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Abstract：
BACKGROUND: Gliomas with 1p/19q-codeletion as well as mutation of isocitrate dehydrogenase (IDH) 1 are typically characterized as oligodendrogliomas with comparatively good response to treatment with radiation and chemotherapy.
METHODS: We present the case of a 28-year-old man with an IDH1 and TP53 mutant high grade glioma with abnormalities in chromosomes 1 and 19 suggestive of anaplastic oligodendroglioma that rapidly progressed to widespread metastatic disease. Biopsy of a liver lesion confirmed metastasis of the patient\'s known brain primary and chemotherapy with temozolomide was initiated. The patient\'s rapidly growing tumor burden with fulminant liver failure and tumor lysis led to multisystem failure of which the patient died. Further molecular testing illustrated features more consistent with glioblastoma: multiple large chromosomal aberrations including loss of whole chromosome 1 and 2q; gain/amplification of MYCN, MET, and CDK4; loss of CDKN2A/B; and an ATRX mutation.
CONCLUSIONS: This case illustrates the importance of higher level molecular diagnostic testing for patients with particularly aggressive disease progression that is not concordant with standard prognoses. Additional data on cases with atypical alterations of 1p and 19q are needed to better understand the distinct biology of these cancers so that appropriate therapies can be developed.
METHODS: We present the case of a 28-year-old man with an IDH1 and TP53 mutant high grade glioma with abnormalities in chromosomes 1 and 19 suggestive of anaplastic oligodendroglioma that rapidly progressed to widespread metastatic disease. Biopsy of a liver lesion confirmed metastasis of the patient\'s known brain primary and chemotherapy with temozolomide was initiated. The patient\'s rapidly growing tumor burden with fulminant liver failure and tumor lysis led to multisystem failure of which the patient died. Further molecular testing illustrated features more consistent with glioblastoma: multiple large chromosomal aberrations including loss of whole chromosome 1 and 2q; gain/amplification of MYCN, MET, and CDK4; loss of CDKN2A/B; and an ATRX mutation.
CONCLUSIONS: This case illustrates the importance of higher level molecular diagnostic testing for patients with particularly aggressive disease progression that is not concordant with standard prognoses. Additional data on cases with atypical alterations of 1p and 19q are needed to better understand the distinct biology of these cancers so that appropriate therapies can be developed.
摘要：
背景：具有1p/19q-共缺失以及异柠檬酸脱氢酶（IDH）1突变的胶质瘤通常被表征为对放疗和化疗治疗具有相对良好反应的少突胶质细胞瘤。
方法：我们介绍了一例28岁男性，患有IDH1和TP53突变型高级别神经胶质瘤，染色体1和19异常，提示为间变性少突胶质细胞瘤迅速发展为广泛的转移性疾病。肝病灶活检证实患者已知的脑原发性转移，并开始替莫唑胺化疗。患者因暴发性肝衰竭和肿瘤溶解而迅速增加的肿瘤负担导致多系统衰竭，患者死亡。进一步的分子测试显示了与胶质母细胞瘤更一致的特征：多个大的染色体畸变，包括完整染色体1和2q的丢失；MYCN的增益/扩增，MET,和CDK4;CDKN2A/B缺失;和ATRX突变。
结论：本案例说明了对疾病进展特别严重且与标准预后不一致的患者进行更高水平的分子诊断检测的重要性。需要有关1p和19q非典型改变的病例的其他数据，以更好地了解这些癌症的独特生物学，以便可以开发适当的治疗方法。
方法：我们介绍了一例28岁男性，患有IDH1和TP53突变型高级别神经胶质瘤，染色体1和19异常，提示为间变性少突胶质细胞瘤迅速发展为广泛的转移性疾病。肝病灶活检证实患者已知的脑原发性转移，并开始替莫唑胺化疗。患者因暴发性肝衰竭和肿瘤溶解而迅速增加的肿瘤负担导致多系统衰竭，患者死亡。进一步的分子测试显示了与胶质母细胞瘤更一致的特征：多个大的染色体畸变，包括完整染色体1和2q的丢失；MYCN的增益/扩增，MET,和CDK4;CDKN2A/B缺失;和ATRX突变。
结论：本案例说明了对疾病进展特别严重且与标准预后不一致的患者进行更高水平的分子诊断检测的重要性。需要有关1p和19q非典型改变的病例的其他数据，以更好地了解这些癌症的独特生物学，以便可以开发适当的治疗方法。
