硬化性髓外造血系统肿瘤(SEMHT)是一种罕见的疾病,最初被称为纤维性造血系统肿瘤或骨髓硬化。该过程通常发生在有慢性骨髓增生性疾病病史的患者中,可能会影响皮肤,肺,乳房,胃肠道,乳房,肾,淋巴结,和甲状腺。在这篇文章中,我们报道一例37岁女性,有5年以上急性B淋巴细胞白血病病史,表现为右上腹疼痛和压痛.计算机断层扫描显示左右肝叶内有多个新的环形增强低密度病变。对其中一个新的肝脏病变进行了计算机断层扫描引导的肝核心活检,并显示髓外造血与非典型巨核细胞和正弦毛细血管化以及相关的成纤维细胞增殖。许多非典型巨核细胞散布在随意胶原蛋白沉积的背景中。没有发现明显的母细胞或白血病过程。骨髓穿刺活检显示广泛的网织蛋白纤维化(MF-3),三系发育不良,爆炸增加(10%至19%),和细胞过多(接近100%),与MDS-EB-2一致。细胞遗传学报告如下:44~46,XX,-3,添加(3)(p13),-5,-6,-7,17,del(17)(p12),+1~5mar[cp9]/46,XX.分子分析对JAK2V617F和CALR外显子9激活突变均为阴性。总之,我们提供了一个新的SEMHT诊断病例,其同步表现与7号染色体缺失和完整的JAK2和CALR外显子9相关的临床进化较差.诊断有血液病史的腹内和腹膜后软组织肿块时应格外小心。
Sclerosing extramedullary hematopoietic tumor (SEMHT) is a rare disease that was originally named fibrous hematopoietic tumor or myelosclerosis. The process typically occurs in patients with a history of chronic myeloproliferative disorders and may afflict the skin, lung, breast, gastrointestinal tract, breast, kidney, lymph node, and thyroid gland. In this article, we report the
case of a 37-year-old female with more than 5 years history of acute B-cell lymphoblastic leukemia who presented with right upper quadrant pain and tenderness. Computed tomography scan showed multiple new ring-enhancing low-density lesions within the right and left hepatic lobes. A computed tomography-guided liver core biopsy was performed on one of the new liver lesions and showed extramedullary hematopoiesis with atypical megakaryocytes and sinusoidal capillarization with associated fibroblastic proliferation. Numerous atypical megakaryocytes were scattered in the background of haphazard collagen deposition. No significant blasts or a leukemic process were identified. Bone marrow aspiration and biopsy showed extensive reticulin fibrosis (MF-3), trilineage dysplasia, increased blasts (10% to 19%), and hypercellularity (close to 100%), which was consistent with MDS-EB-2. Cytogenetics was reported as follows: 44~46,XX,-3,add(3)(p13),-5,-6,-7,17,del(17)(p12),+1~5mar[cp9]/46,XX. Molecular analysis was negative for both JAK2 V617F and CALR exon 9 activating mutations. In summary, we contributed a new
case of SEMHT diagnosis in a synchronous presentation with poor clinical evolution associated chromosome 7 deletion and intact JAK2 and CALR exon 9. Care should be taken when diagnosing intraabdominal and retroperitoneal soft tissue masses with the history of hematological disorders.