Barisella Marta, Giannini Lorenzo, Piazza Cesare
Department of Diagnostic Pathology and Laboratory Medicine.
Department of Otorhinolaryngology, Maxillofacial and Thyroid Surgery, Fondazione IRCCS, National Cancer Institute of Milan.
Curr Opin Otolaryngol Head Neck Surg. 2020 Apr;28(2):136-143. doi: 10.1097/MOO.0000000000000608.
To overview the array of differential diagnoses among lipomatous tumours of the head and neck with special focus on their evaluation, three-dimensional assessment, and their available treatments.
The head and neck is an infrequent localization for lipomatous tumours, even though they represent the most common mesenchymal lesions. Lipoma, spindle cell/pleomorphic lipoma (SC/PL), atypical lipomatous tumour/well differentiated liposarcoma (ALT/WDLPS), de-differentiated liposarcoma (DDLPS), myxoid liposarcoma (MLPS), and pleomorphic liposarcoma (PLPS) are the most distinctive histotypes. Lipoma and SC/PL present alterations of chromosomes 12 and 13, ALT/WDLPS and DDLPS both show the Mouse Double Minute 2 amplification, whereas MLPS presents a CHOP gene fusion. Diagnosis of PLPS is purely morphological as there is no pathognomonic genetic alteration identified to date. Radiological assessment can be challenging for the presence of nonadipose components within the lesion. Surgery is the mainstay of treatment, even though achieving true radicality in terms of a large cuff of healthy tissue surrounding the tumour is not always realistic in the head and neck. Adjuvant radiation, eventually in combination with systemic chemotherapy, has been shown to improve overall survival in patients with positive margins, high-grade, deep, and more than 5 cm lesions. Further studies should be aimed at the evaluation of the role of hadron therapy, as well as targeted drugs against overexpressed proteins.
Adequate differential diagnosis of the histotypes collected under the umbrella term of head and neck lipomatous tumours plays a fundamental role in treatment and follow-up of these lesions and requires specific expertise with referral to high-volume centres.
概述头颈部脂肪瘤样肿瘤的一系列鉴别诊断,特别关注其评估、三维评估及可用治疗方法。
头颈部是脂肪瘤样肿瘤的罕见发病部位,尽管它们是最常见的间叶性病变。脂肪瘤、梭形细胞/多形性脂肪瘤(SC/PL)、非典型脂肪瘤性肿瘤/高分化脂肪肉瘤(ALT/WDLPS)、去分化脂肪肉瘤(DDLPS)、黏液样脂肪肉瘤(MLPS)和多形性脂肪肉瘤(PLPS)是最具特征性的组织学类型。脂肪瘤和SC/PL存在12号和13号染色体改变,ALT/WDLPS和DDLPS均显示小鼠双微体2扩增,而MLPS存在CHOP基因融合。PLPS的诊断完全基于形态学,因为迄今为止尚未发现特征性的基因改变。由于病变内存在非脂肪成分,放射学评估可能具有挑战性。手术是主要治疗方法,尽管在头颈部围绕肿瘤获得一大圈健康组织的真正根治性切除并不总是现实的。辅助放疗,最终联合全身化疗,已被证明可提高切缘阳性、高级别、深部及直径大于5厘米病变患者的总生存率。进一步的研究应旨在评估强子治疗的作用以及针对过表达蛋白的靶向药物。
对头颈部脂肪瘤样肿瘤这一统称下所涵盖的组织学类型进行充分的鉴别诊断,在这些病变的治疗和随访中起着至关重要的作用,并且需要具备特定专业知识并转诊至高容量中心。