Chen Ing, Liao Jia-Bin, Lin Jung-Chia, Hsieh Pin-Pen, Hsieh Ming-Yun
Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung.
Department of Pathology and Laboratory Medicine, Kaohsiung Veterans General Hospital, Kaohsiung.
Clin Pathol. 2022 Sep 13;15:2632010X221123539. doi: 10.1177/2632010X221123539. eCollection 2022 Jan-Dec.
Mastocytosis is a rare disorder affecting both children and adults by gathering of functionally defective mast cells in the body's tissues. The World Health Organization (WHO) classified mastocytosis into cutaneous mastocytosis, systemic mastocytosis (SM), and mast cell sarcoma (MCS). We hereby present a case of retroperitoneal MCS with concurrent systemic mastocytosis and an undisclosed associated hematological neoplasm (SM-undisclosed AHN). The diagnosis of MCS and SM was made after the second biopsy over retroperitoneal mass, lymph node, and ovary for rapidly progressive disease with the presentation of unexplained recurrent flushing, palpitation, and shock, in addition to abdominal pain. A clonal myeloid neoplasm was also suspected by the karyotype and hemogram data. Unfortunately, the patient succumbed to the disease quickly. Apart from this unique case, the previously reported cases of SM with MCS in the literature were also reviewed.
肥大细胞增多症是一种罕见的疾病，通过体内组织中功能缺陷性肥大细胞的聚集影响儿童和成人。世界卫生组织（WHO）将肥大细胞增多症分为皮肤肥大细胞增多症、系统性肥大细胞增多症（SM）和肥大细胞肉瘤（MCS）。我们在此报告一例腹膜后MCS合并系统性肥大细胞增多症及未公开的相关血液肿瘤（SM-未公开AHN）的病例。在对腹膜后肿块、淋巴结和卵巢进行第二次活检后，诊断为MCS和SM，该疾病进展迅速，表现为无法解释的反复潮红、心悸、休克以及腹痛。核型和血常规数据还怀疑存在克隆性髓系肿瘤。不幸的是，患者很快死于该疾病。除了这个独特的病例外，还对文献中先前报道的SM合并MCS的病例进行了回顾。
