Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature
Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature
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DOI：
10.1007/s11060-007-9339-x
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发表时间：
2007-08-01
影响因子：
3.9
通讯作者：
Rhodes, C. Harker
中科院分区：
文献类型：
--
作者：
Zarovnaya, Elena L.;Pallatroni, Henry F.;Rhodes, C. Harker
非典型畸胎样/横纹肌样肿瘤（AT/RTs）是一种罕见的恶性脑肿瘤，几乎只发生在婴儿和幼儿中。在医学文献中，只有17例成人AT/RT病例报告，这种肿瘤的罕见性使得成人诊断困难。我们描述的情况下，AT/RT的脊髓在成人。一位43岁女性，因颈部和左上肢疼痛就诊。MRI显示脊髓背侧从C4延伸到C6的肿块病变。患者接受了C3至C7椎板切除术。在与其他机构的高级病理学家协商后，病变最初被诊断为横纹肌样脑膜瘤。分子遗传学研究显示22号单体和22q11.2的INI 1基因表达缺失。随后，免疫组化研究显示，缺乏INI 1基因表达的恶性细胞，支持AT/RT的诊断。患者接受了三个额外的手术治疗复发性疾病继发于软脑膜扩散的肿瘤在整个神经轴。尽管积极的手术切除，辅助化疗和放射治疗，病人死于疾病的两年半后，她最初的介绍。进行了不受限制的尸检。据我们所知，这是第一例脊髓非典型畸胎瘤/横纹肌样肿瘤的成年人完全记录与分子，免疫组化，细胞遗传学和尸检结果。
Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, malignant brain tumors which occur almost exclusively in infants and young children. There have been only 17 cases of AT/RT in adults reported in the medical literature and the rarity of this tumor makes the diagnosis in adults difficult. We describe a case of an AT/RT of the spinal cord in an adult. A 43-year old woman presented with neck and left upper extremity pain. An MRI demonstrated a mass lesion in the dorsal spinal cord extending from C4 to C6. The patient underwent a C3 through C7 laminectomy. In consultation with senior pathologists at other institutions, the lesion was initially diagnosed as a rhabdoid meningioma. Molecular genetic studies revealed monosomy 22 and loss of expression of the INI1 gene in 22q11.2. Subsequently, immunohistochemical studies revealed the absence of INI1 gene expression in the malignant cells, supporting the diagnosis of AT/RT. The patient underwent three additional surgical procedures for recurrent disease throughout the neuraxis secondary to leptomeningeal spread of the tumor. Despite aggressive surgical resection, adjuvant chemotherapy and radiation therapy, the patient succumbed to the disease two and a half years after her initial presentation. An unrestricted autopsy was performed. To our knowledge, this is the first case of a spinal atypical teratoid/rhabdoid tumor in an adult fully documented with molecular, immunohistochemical, cytogenetic and autopsy findings.