髓样肉瘤(MS)是一种起源于骨髓的恶性肿瘤。这项研究报告了一名11岁维吾尔族女孩的治疗,该女孩有15天的发烧和阵发性咳嗽史,伴有右髋部疼痛。治疗期间,疲劳和贫血发展,体力下降,下肢有一些瘀点。颈部可触及多个肿大淋巴结,咽部有轻微充血.血常规筛查显示三种主要髓系异常。病理检查显示存在CD10(-),CD99(+),CD20(+),CD3(-),CD117(弱+),CD34(位置不清楚),TdT(-),Pax5(-),Ki-67(50%+),MPO(-),和CD43(+)。该患者最终被诊断为孤立的MS。化疗后,骨髓形态未见小颗粒。通过流式细胞术检测微小残留病证实完全缓解。对基因组DNA进行236个基因组的靶向测序,以检测体细胞突变和MSH6c.3953_3954insAAp.R1318fs种系突变。不幸的是,患者随后失访.据我们所知,MSH6种系突变以前从未在患有MS的儿童中报道过,我们推测MSH6种系突变导致基因组不稳定,在多个基因中引发体细胞突变,并最终导致该患者MS的发展。建议罕见的碱基异常可能与孤立的骨髓肉瘤(IMS)的发展有关。
Myeloid sarcoma (MS) is a type of malignant tumor that originates in the bone marrow. This study
reports on the treatment of an 11-year-old Uygur girl with a 15-day history of fever and paroxysmal cough, accompanied by right hip pain. During treatment, fatigue and anemia developed, physical strength decreased, and a few petechiae were seen in the lower extremities. Multiple enlarged lymph nodes were palpable in the neck, with slight congestion in the pharynx. Routine blood screening showed three major myeloid lineage abnormalities. Pathological examination revealed the presence of CD10 (-), CD99 (+), CD20 (+), CD3 (-), CD117 (weak+), CD34 (unclear location), TdT (-), Pax5 (-), Ki-67 (50%+), MPO (-), and CD43 (+). The patient was eventually diagnosed with isolated MS. After chemotherapy, no small particles were observed in bone marrow morphology. Complete remission was confirmed by flow cytometric detection of minimal residual disease. Genomic DNA was subjected to targeted sequencing of 236 gene panels to detect somatic mutations and the MSH6 c.3953_3954insAA p.R1318fs germline mutation. Unfortunately, the patient was subsequently lost to follow-up. To our knowledge, an MSH6 germline mutation had not previously been reported in children with MS, and we speculated that an MSH6 germline mutation led to genomic instability, triggering a somatic mutation in multiple genes and ultimately led to the development of MS in this patient. It is suggested that rare base abnormalities may be involved in the development of isolated myeloid sarcomas (IMS).