Quezado M M, Middleton L P, Bryant B, Lane K, Weiss S W, Merino M J
Laboratory of Pathology, Surgical Pathology Section, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Hum Pathol. 1998 Jun;29(6):604-8. doi: 10.1016/s0046-8177(98)80010-5.
Epithelioid sarcomas are soft tissue tumors with an indolent, but potentially aggressive, clinical behavior. Distinction from other benign and malignant entities may be a diagnostic dilemma. In this study, we evaluate the presence of loss of heterozygosity (LOH) of chromosome 22q in tumor DNA from 13 epithelioid sarcomas, four epithelioid angiosarcomas, and two epithelioid hemangioendotheliomas, and investigate its possible role in diagnosis. LOH was detected in 6 of 10 (60%) of the informative epithelioid sarcomas. No allele loss was detected in the informative vascular tumors, three angiosarcomas, and two hemangioendotheliomas. Chromosome 22q carries the locus of a tumor suppressor gene, the neurofibromatosis 2 (NF2) gene, which has been shown to be lost or mutated in some NF2-related tumors, sporadic meningiomas, and vestibular schwannomas, as well as a few other tumors. Our data suggest that a region of chromosome 22q may be the locus of a tumor suppressor gene involved in the tumorigenesis of these neoplasms. Genetic alterations of yet-unknown tumor suppressor genes in this region, or even the NF2 tumor suppressor gene, may play a role in epithelioid sarcomas tumorigenesis. The fact that LOH was only detected in epithelioid sarcomas and not in the vascular tumors studied suggests a possible role for this marker in diagnosis.
上皮样肉瘤是一种软组织肿瘤，临床行为惰性，但具有潜在侵袭性。与其他良性和恶性实体进行区分可能是一个诊断难题。在本研究中，我们评估了13例上皮样肉瘤、4例上皮样血管肉瘤和2例上皮样血管内皮瘤的肿瘤DNA中22号染色体长臂杂合性缺失（LOH）的情况，并研究其在诊断中的可能作用。在10例信息充分的上皮样肉瘤中有6例（60%）检测到LOH。在信息充分的血管肿瘤（3例血管肉瘤和2例血管内皮瘤）中未检测到等位基因缺失。22号染色体长臂携带肿瘤抑制基因神经纤维瘤病2（NF2）基因的位点，该基因已被证明在一些与NF2相关的肿瘤、散发性脑膜瘤和前庭神经鞘瘤以及其他一些肿瘤中丢失或发生突变。我们的数据表明，22号染色体长臂的一个区域可能是参与这些肿瘤发生的肿瘤抑制基因的位点。该区域尚未明确的肿瘤抑制基因甚至NF2肿瘤抑制基因的遗传改变可能在上皮样肉瘤的发生中起作用。仅在上皮样肉瘤中检测到LOH而在所研究的血管肿瘤中未检测到这一事实表明该标志物在诊断中可能具有作用。
