Anatomic Pathology - Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street, SW, Rochester, MN, 55905, USA.
Head Neck Pathol. 2020 Dec;14(4):974-981. doi: 10.1007/s12105-020-01171-x. Epub 2020 May 14.
Well-differentiated (WDL) and dedifferentiated liposarcomas (DL) of the pharynx, larynx and oral cavity are rare, often mimicking benign lipomatous neoplasms or non-lipogenic mesenchymal tumors. Cases of WDL/DL arising in the upper aerodigestive tract, exclusive of the cervical esophagus, were reviewed. Morphologic features, ancillary studies, including fluorescence in situ hybridization (FISH) studies for CPM/MDM2, and clinical data was catalogued. Eight WDL/DL (4 WDL, 4 DL); were identified in patients ranging from 32 to 77 years (median 52.5 years; 6 males, 2 females) with sites of origin including hypopharynx (5 cases), larynx (2 cases) and oral cavity (1 case). Six of the 8 cases were received for expert consultation, and the remaining 2 cases were initially misdiagnosed as benign lymphangiomatous or fibroepithelial polyps. Morphologically, 4 tumors had areas mimicking various non-lipomatous soft tissue tumors including nodular fasciitis, mammary-type myofibroblastoma, low-grade myofibroblastic sarcoma and undifferentiated pleomorphic sarcoma, 2 cases simulated benign hypopharyngeal polyps, and 1 lesion was notable for a dense lymphoplasmacytic infiltrate suggestive of hematolymphoid neoplasm or IgG4-related sclerosing disease. FISH showed amplification of CPM/MDM2 (8/8 cases). All cases (4/4) with longer than 1-year of follow-up recurred (45-118 months) with 1 tumor showing progression to DL. WDL/DL presenting in the upper aerodigestive tract are rare and diagnostically challenging. Awareness of the morphologic spectrum of WDL/DL coupled with appropriate use of MDM2 FISH is essential for accurate classification and management, as these tumors appear to have a high risk for local recurrence and eventual dedifferentiation in these anatomical locations.
咽、喉和口腔的高分化(WD)和去分化脂肪肉瘤(DL)很少见,常类似于良性脂肪性肿瘤或非脂源性间叶肿瘤。回顾了发生在上呼吸道的 WD/DL 病例,不包括颈段食管。对患者的形态学特征、辅助研究(包括 CPM/MDM2 的荧光原位杂交(FISH)研究)和临床数据进行了编目。8 例 WD/DL(4 例 WD,4 例 DL)患者年龄为 32-77 岁(中位数 52.5 岁;6 例男性,2 例女性),起源部位包括下咽(5 例)、喉(2 例)和口腔(1 例)。8 例中有 6 例为专家会诊病例,其余 2 例最初误诊为良性淋巴管瘤样或纤维上皮性息肉。形态上,4 例肿瘤有类似于各种非脂肪性软组织肿瘤的区域,包括结节性筋膜炎、乳腺型肌纤维母细胞瘤、低度肌纤维母细胞肉瘤和未分化多形性肉瘤,2 例模拟良性下咽息肉,1 例病变以密集的淋巴浆细胞浸润为特征,提示血液淋巴肿瘤或 IgG4 相关硬化性疾病。FISH 显示 CPM/MDM2 扩增(8/8 例)。所有(4/4)随访时间超过 1 年的病例均复发(45-118 个月),其中 1 例肿瘤进展为 DL。上呼吸道的 WD/DL 很少见,诊断具有挑战性。了解 WD/DL 的形态学谱,并适当使用 MDM2 FISH,对于准确分类和管理至关重要,因为这些肿瘤在这些解剖部位似乎有很高的局部复发和最终去分化的风险。