Al-Hussaini Maysa, Dissi Noreen, Al-Jumaily Usama, Swaidan Maisa
Departments of Pathology and Laboratory Medicine, King Hussein Cancer Center, AMMAN, JORDAN.
Turk Patoloji Derg. 2014;30(1):43-54. doi: 10.5146/tjpath.2013.01213.
Atypical teratoid rhabdoid tumor is a rare neoplasm with a distinct cytogenetic profile that predominates in infancy. Many cases show predominance of small cells with scanty rhabdoid cells, making recognition of this tumor difficult. We aim at describing our experience with atypical teratoid rhabdoid tumor cases diagnosed over a 6-year period.
Clinicopathologic features and immunohistochemical staining of atypical teratoid rhabdoid tumor cases diagnosed between 2006 and 2011 are presented.
Fifteen cases were identified including 9 males with a median age of 26 months. The most common presenting symptom was recurrent vomiting with a mean duration of 6 weeks. Nine cases (60%) were infratentorial and cerebrospinal fluid was positive in 2 cases (13.3%) at time of diagnosis. The median overall survival of the group was 9.5 months. All cases except one showed admixture of rhabdoid and/or small round blue cells in variable proportions. Only 5 out of fourteen referred cases (35.7%) were correctly diagnosed. Three cases showed unusual growth patterns. In 2 cases, nodular medulloblastoma-like growth pattern predominated, with loss of INI-1/BAF47 staining both within the nodules and the inter-nodular areas. The third case contained scattered individual and small groups of large cells with abundant acidophilic cytoplasm and eccentric nuclei, reminiscent of rhabdomyoblasts that were positive for GFAP and desmin, and retained nuclear staining for INI-1/BAF47, consistent with reactive gemistocytes.
Pathologists should be aware of the various, and unusual histopathologic patterns of atypical teratoid rhabdoid tumor. INI-1/ BAF47 immunostain should be performed on all central nervous system embryonal tumors, especially in infants and young children.
非典型畸胎样横纹肌样瘤是一种罕见肿瘤，具有独特的细胞遗传学特征，在婴儿期最为常见。许多病例以小细胞为主，横纹肌样细胞稀少，这使得识别这种肿瘤变得困难。我们旨在描述我们在6年期间诊断非典型畸胎样横纹肌样瘤病例的经验。
介绍了2006年至2011年期间诊断的非典型畸胎样横纹肌样瘤病例的临床病理特征和免疫组化染色情况。
共确诊15例，其中男性9例，中位年龄26个月。最常见的首发症状是反复呕吐，平均持续时间为6周。9例（60%）位于幕下，诊断时2例（13.3%）脑脊液呈阳性。该组患者的中位总生存期为9.5个月。除1例病例外，所有病例均显示横纹肌样细胞和/或小圆形蓝色细胞以不同比例混合。在转诊的14例病例中，只有5例（35.7%）被正确诊断。3例表现出不寻常的生长模式。2例中，以结节性髓母细胞瘤样生长模式为主，结节内和结节间区域INI-1/BAF47染色均缺失。第三例包含散在的单个和小群大细胞，胞质丰富嗜酸性，核偏位，让人联想到横纹肌母细胞；这些细胞GFAP和结蛋白染色阳性，INI-1/BAF47核染色保留，符合反应性肥胖型星形细胞。
病理学家应了解非典型畸胎样横纹肌样瘤的各种不寻常组织病理学模式。所有中枢神经系统胚胎性肿瘤均应进行INI-1/BAF47免疫染色，尤其是在婴幼儿中。
