Mohiuddin Sana, Maraka Stefania, Usman Baig Muhammad, Gupta Sumit, Muzzafar Tariq, Valyi-Nagy Tibor, Lindsay Holly, Moody Karen, Razvi Shehla, Paulino Arnold, Slavin Konstantin, Gondi Vinai, McCutcheon Ian, Zaky Wafik, Khatua Soumen
Department of Pediatrics Patient Care, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Department of Neurology and Rehabilitation, University of Illinois at Chicago, Chicago, IL, USA; Department of Neuro-oncology, The University of Texas, MD Anderson Cancer Center, Houston, TX, USA.
J Clin Neurosci. 2021 Jul;89:405-411. doi: 10.1016/j.jocn.2021.05.033. Epub 2021 May 27.
H3K27M and H3.3G34R/V mutations have been identified in pediatric high-grade gliomas (pHGG), though extraneural metastases are rarely reported and poorly characterized. Three pHGG patients from two institutions were identified with extraneural metastasis, harboring histone mutations. Their clinical, imaging and molecular characteristics are reported here. A 17-year old female presented with supratentorial H3.3G34R-mutant glioma with metastatic osseous lesions in the spine, pelvis, bone marrow, pleural effusion and soft tissue of pelvis. Bone marrow biopsy and soft tissue of pelvis biopsy showed neoplastic cells positive for P53. A 20-year old female was diagnosed with H3F3A H3K27M-mutant thalamic glioma. She developed diffuse sclerotic osseous lesions. Biopsy of an osseous lesion was non-diagnostic. A 17-year old female presented with a H3F3A H3K27M-mutant diffuse midline glioma with diffuse spinal cord metastasis. She further developed multifocal chest lymphadenopathy, pleural effusions, and a soft tissue mass in the abdominal wall. The latter was positive for H3K27M mutation. We present the first case series of pHGG with H3F3A mutation and diffuse extraneural dissemination, describing their clinical and molecular profile.
H3K27M和H3.3G34R/V突变已在儿童高级别胶质瘤(pHGG)中被鉴定出来,尽管神经外转移很少被报道且特征描述不足。来自两个机构的三名pHGG患者被鉴定为发生神经外转移,并携带组蛋白突变。本文报告了他们的临床、影像学和分子特征。一名17岁女性表现为幕上H3.3G34R突变型胶质瘤,伴有脊柱、骨盆、骨髓、胸腔积液和骨盆软组织的转移性骨病变。骨髓活检和骨盆软组织活检显示肿瘤细胞P53呈阳性。一名20岁女性被诊断为H3F3A H3K27M突变型丘脑胶质瘤。她出现了弥漫性硬化性骨病变。骨病变活检未明确诊断。一名17岁女性表现为H3F3A H3K27M突变型弥漫性中线胶质瘤,伴有弥漫性脊髓转移。她进一步出现多灶性胸部淋巴结病、胸腔积液和腹壁软组织肿块。后者H3K27M突变呈阳性。我们报告了首例伴有H3F3A突变和弥漫性神经外播散的pHGG病例系列,描述了它们的临床和分子特征。