Al-Attar Mohammad, Jnawali Anup, Yang Michelle
University of Massachusetts Memorial Health Care, UMass Chan Medical School, Worcester, MA 01605, USA.
Case Rep Pathol. 2023 Jun 27;2023:8040232. doi: 10.1155/2023/8040232. eCollection 2023.
Pleomorphic liposarcoma (PLS) is typically found in the lower and upper extremities. PLS arising in the gastrointestinal (GI) tract is extremely rare. Here, we reported a case of a 71-year-old female with a history of rectal adenocarcinoma presenting with small bowel obstruction. Small bowel resection was performed and revealed a 7.8 cm transmural mass in the jejunum. Histology reviewed a heterogenous epithelioid malignant tumor with intracytoplasmic fatty droplets scalloping the nucleus consistent with lipoblasts in some cells and others with numerous PAS/diastase+intracytoplasmic eosinophilic globules. Scattered multinucleated giant cells were also present. Mitotic count was up to 80/10 HPFs including some bizarre mitotic figures, and Ki67 proliferation index was approximately 60%. Immunohistochemistry demonstrated that the malignant cells were negative for pancytokeratin, CD117, DOG1, SMA, desmin, MyoD1, ERG1, CD34, CD31, SOX10, Melan A, and S100. INI1 was retained. Beta-catenin showed normal membranous staining. P53 was diffusely positive suggestive of mutant phenotype. Fluorescence in situ hybridization (FISH) assay was negative for MDM2 amplification and DDIT3 rearrangement. The overall morphologic and immunohistochemical features supported a diagnosis of high-grade pleomorphic liposarcoma. Diagnosis of PLS can be challenging due to its rarity in GI tract and lack of specific biomarkers, and histomorphology with identification of lipoblasts remains the gold standard.
多形性脂肪肉瘤(PLS)通常发生于下肢和上肢。发生于胃肠道(GI)的PLS极为罕见。在此,我们报告一例71岁女性,有直肠腺癌病史,表现为小肠梗阻。行小肠切除术,在空肠发现一个7.8厘米的透壁肿物。组织学检查显示为一种异质性上皮样恶性肿瘤,部分细胞内可见胞质内脂肪滴环绕细胞核,符合脂母细胞表现,其他细胞可见大量PAS/淀粉酶阳性的胞质嗜酸性小球。也可见散在的多核巨细胞。有丝分裂计数高达80/10个高倍视野,包括一些怪异的有丝分裂象,Ki67增殖指数约为60%。免疫组化显示恶性细胞对全细胞角蛋白、CD117、DOG1、平滑肌肌动蛋白、结蛋白、MyoD1、ERG1、CD34、CD31、SOX10、Melan A和S100均为阴性。INI1保留。β-连环蛋白显示正常的膜染色。P53弥漫阳性,提示突变表型。荧光原位杂交(FISH)检测MDM2扩增和DDIT3重排均为阴性。整体形态学和免疫组化特征支持高级别多形性脂肪肉瘤的诊断。由于PLS在胃肠道罕见且缺乏特异性生物标志物,其诊断具有挑战性,识别脂母细胞的组织形态学仍是金标准。