Takaoka Kensuke, Venkataraman Ashwin, Morihara Clarke, Tan Arvin, Techasatian Witina
Internal Medicine, University of Hawaii at Manoa John A. Burns School of Medicine, Honolulu, USA.
Internal Medicine, Tripler Army Medical Center, Honolulu, USA.
Cureus. 2024 Jan 31;16(1):e53333. doi: 10.7759/cureus.53333. eCollection 2024 Jan.
Desmoplastic small round cell tumors (DSRCT) are very rare and aggressive diseases typically present with abdominal or retroperitoneal masses. We present a case of a young female who presented with ST-segment elevation myocardial infarction and cardiac tamponade and who was found to have DSRCT. The patient was coded at the emergency department. Left heart catheterization showed normal coronary arteries, and pericardiocentesis removed 1,260 mL of bloody pericardial effusions. The patient was stabilized, and a positron emission tomography scan revealed left intrahilar, hilar, and cardiophrenic masses with associated hypermetabolic right hilar, left hilar, subcarinal, costophrenic, aortopulmonary, paratracheal, and mediastinal lymphadenopathy. Cardiac magnetic resonance imaging showed multiple masses visualized in the pericardium, one mass anterior to the right ventricular outflow tract/pulmonary artery, and a second mass adjacent to the right ventricular apex. Computed tomography abdomen/pelvis showed no evidence of metastatic malignancy in the abdomen/pelvis. A biopsy of lung mass and lymph nodes showed desmoplastic small round cell tumors with sarcoma fusion gene detected (Ewing sarcoma RNA-binding protein 1-Wilms' tumor 1). We performed cycle 1 of chemotherapy, including doxorubicin, vincristine, and cyclophosphamide, and the patient was transferred to an oncology center for further care. This case suggested that one of the differential diagnoses of lung and pericardium masses at a young age can be desmoplastic small round cell tumors. This case also highlighted that ST-segment elevation myocardial infarction can be secondary to neoplasm, especially at a young age besides myocardial infarction.
促结缔组织增生性小圆细胞肿瘤（DSRCT）是非常罕见且侵袭性很强的疾病，通常表现为腹部或腹膜后肿块。我们报告一例年轻女性病例，该患者表现为ST段抬高型心肌梗死和心脏压塞，经检查发现患有DSRCT。患者在急诊科进行了编码。左心导管检查显示冠状动脉正常，心包穿刺抽出1260毫升血性心包积液。患者病情稳定后，正电子发射断层扫描显示左肺门内、肺门及心膈角有肿块，同时伴有右肺门、左肺门、隆突下、肋膈角、主肺动脉窗、气管旁及纵隔淋巴结代谢增高。心脏磁共振成像显示心包内有多个肿块，一个位于右心室流出道/肺动脉前方，另一个位于右心室心尖附近。腹部/盆腔计算机断层扫描未发现腹部/盆腔有转移性恶性肿瘤的迹象。肺肿块和淋巴结活检显示为促结缔组织增生性小圆细胞肿瘤，并检测到肉瘤融合基因（尤因肉瘤RNA结合蛋白1-威尔姆斯瘤1）。我们进行了第1周期化疗，包括多柔比星、长春新碱和环磷酰胺，随后患者被转至肿瘤中心接受进一步治疗。该病例提示，年轻患者肺和心包肿块的鉴别诊断之一可能是促结缔组织增生性小圆细胞肿瘤。该病例还强调，ST段抬高型心肌梗死可能继发于肿瘤，尤其是在年轻患者中，除心肌梗死外还需考虑肿瘤因素。
