Bartelheim Kerstin, Sumerauer David, Behrends Uta, Kodetova Daniela, Kucera Filip, Leuschner Ivo, Neumayer Petra, Oyen Florian, Rübe Christian, Siebert Reiner, Schneppenheim Reinhard, Seeringer Angela, Vasovcak Peter, Frühwald Michael C
Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.
Department of Pediatric Hematology and Oncology, University Hospital Motol, Charles University, 2nd Medical School, Prague, Czech Republic.
Cancer Genet. 2014 Sep;207(9):379-83. doi: 10.1016/j.cancergen.2014.04.005. Epub 2014 Apr 21.
Rhabdoid tumors are rare but highly aggressive malignancies of infancy and early childhood with a generally unfavorable prognosis. Despite a wide variety of anatomic locations rhabdoid tumors share mutational inactivation of the SWI/SNF (SWItch/Sucrose NonFermentable) core component gene SMARCB1 (also known as INI1, hSNF5 or BAF47) in chromosome 22. As this inactivation usually results in loss of SMARCB1 expression, detectable by an antibody against the SMARCB1 protein, the accurate diagnosis of a rhabdoid tumor may be more distinctly and frequently made. Several reports on rhabdoid tumors presenting in various anatomic sites outside the kidneys and CNS are on record. We report two cases of rhabdoid tumors originating in the heart (cardiac tissue), which were entered into the European Rhabdoid Registry (EU-RHAB). The first case presented with intracardial and -cranial lesions as well as malignant ascites, while the second patient demonstrated an isolated cardiac tumor. This induced a different therapeutic approach and subsequently different clinical course (death 7 weeks after diagnosis in patient 1). Patient 2 presented with a bifocal intracardial tumor without metastases and remains in complete remission for 46 months since diagnosis following multimodal therapy. The second case demonstrates that even in a potentially futile clinical situation early and accurate diagnosis followed by prompt and intensive multimodal therapy may offer prolonged survival, potential cure and improved quality of life.
横纹肌肉瘤是婴幼儿期罕见但侵袭性很强的恶性肿瘤，预后通常不佳。尽管横纹肌肉瘤的解剖位置多种多样，但它们都存在22号染色体上SWI/SNF（开关/蔗糖非发酵）核心成分基因SMARCB1（也称为INI1、hSNF5或BAF47）的突变失活。由于这种失活通常会导致SMARCB1表达缺失，可通过抗SMARCB1蛋白的抗体检测到，因此横纹肌肉瘤的准确诊断可能会更明确、更频繁地做出。有几篇关于横纹肌肉瘤出现在肾脏和中枢神经系统以外各种解剖部位的报道。我们报告了两例起源于心脏（心脏组织）的横纹肌肉瘤病例，这两例病例已被录入欧洲横纹肌肉瘤登记处（EU-RHAB）。第一例患者表现为心内和颅内病变以及恶性腹水，而第二例患者表现为孤立性心脏肿瘤。这导致了不同的治疗方法，随后临床病程也不同（患者1在诊断后7周死亡）。患者2表现为双灶性心内肿瘤且无转移，自多模式治疗诊断后已完全缓解46个月。第二例病例表明，即使在潜在的无效临床情况下，早期准确诊断并随后进行及时、强化的多模式治疗也可能带来延长生存期、潜在治愈和改善生活质量的效果。
