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一名9岁女性的脂肪母细胞瘤相关肠扭转

Lipoblastoma-Related Volvulus in a Nine-Year-Old Female.

作者信息

Gingell Luke, Sharrak Aryana, Hawes Kristen, Schlatter Marc

机构信息

Medicine, Michigan State University College of Human Medicine, Grand Rapids, USA.

General Surgery, Michigan State University College of Human Medicine, Grand Rapids, USA.

出版信息

Cureus. 2024 Jun 15;16(6):e62430. doi: 10.7759/cureus.62430. eCollection 2024 Jun.

Abstract

Lipoblastomas are benign neoplasms that arise from embryonal adipocytes. They predominantly impact the pediatric population, with most cases occurring in the first few years of life. These tumors typically present as a soft, palpable, painless mass and tend to involve the mesenchymal tissues of the extremities and trunk. Intraabdominal involvement and intraabdominal complications secondary to lipoblastoma are incredibly rare. Here, we present the case of a nine-year-old female who presented to the emergency department (ED) with one week of intermittent lower abdominal pain. The CT abdomen/pelvis demonstrated a well-circumscribed hypodense omental mass measuring 10.1 cm x 4.7 cm x 13.4 cm with minimal mass effect or bowel displacement. At that time, the patient's abdomen was soft without tenderness, distention, or rigidity. Her initial laboratory studies and vital signs were within normal limits. She was evaluated by pediatric surgery, who, given her clinical stability, planned for an anticipated elective resection. Thirteen days after her initial ED visit, the patient returned to the ED with nausea, vomiting, and diffuse abdominal pain. Repeat CT abdomen/pelvis revealed shifting of the omental mass from the left hemi-abdomen to the right hemi-abdomen with associated mesenteric 'swirl sign' and dilated loops of small bowel consistent with small bowel obstruction. Given the patient's CT findings and signs of peritonitis on a physical exam, she was emergently taken to the operating room, where the mass along with 20 cm of small bowel intimately associated with the mass was resected. The proximal end of the involved bowel was found to be twisted and necrotic, consistent with volvulus. A specimen was sent for cytogenetics and found to be positive for FLAG1, ultimately revealing a diagnosis of lipoblastoma. The majority of lipoblastoma development is underpinned by gene rearrangements in the zinc-finger transcription factor PLAG1. Although benign, these tumors can exhibit rapid proliferation and have high recurrence rates. Patients should be monitored long-term with ultrasound (US) or MRI following surgery to assess for recurrence.

摘要

脂肪母细胞瘤是一种起源于胚胎脂肪细胞的良性肿瘤。它们主要影响儿童群体,大多数病例发生在生命的最初几年。这些肿瘤通常表现为柔软、可触及、无痛的肿块,且往往累及四肢和躯干的间充质组织。脂肪母细胞瘤继发的腹腔内累及和腹腔内并发症极其罕见。在此,我们报告一例9岁女性病例,该患者因间歇性下腹痛一周就诊于急诊科。腹部/盆腔CT显示一个边界清晰的低密度网膜肿块,大小为10.1 cm×4.7 cm×13.4 cm,肿块效应和肠管移位极小。当时,患者腹部柔软,无压痛、腹胀或僵硬。她最初的实验室检查和生命体征均在正常范围内。小儿外科对她进行了评估,鉴于其临床稳定,计划进行择期切除。在她首次就诊于急诊科13天后,该患者因恶心、呕吐和弥漫性腹痛再次返回急诊科。复查腹部/盆腔CT显示网膜肿块从左半腹移至右半腹,并伴有肠系膜“漩涡征”以及与小肠梗阻相符的小肠肠袢扩张。鉴于患者的CT表现和体格检查中的腹膜炎体征,她被紧急送往手术室,术中切除了肿块以及与肿块紧密相连的20 cm小肠。发现受累肠管近端扭曲坏死,符合肠扭转。送检标本进行细胞遗传学检查,结果显示FLAG1阳性,最终确诊为脂肪母细胞瘤。大多数脂肪母细胞瘤的发生是由锌指转录因子PLAG1中的基因重排所支撑。这些肿瘤虽然是良性的,但可表现出快速增殖且复发率高。术后应长期通过超声(US)或磁共振成像(MRI)对患者进行监测,以评估是否复发。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a1f/11249053/e897b0466133/cureus-0016-00000062430-i01.jpg

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