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Fine-needle aspiration of lipoblastoma: Cytological, molecular, and clinical features.

脂母细胞瘤的细针穿刺细胞学、分子和临床特征

Ferreira J,Esteves G,Fonseca R,Martins C,André S,Lemos MM

Abstract

Lipoblastomas are rare, benign adipocytic tumors that present mostly during infancy. In about 70% of cases, these tumors carry abnormalities in chromosome 8, mainly leading to rearrangements of the PLAG1 gene.
We report a series of histologically proven lipoblastomas with previous fine-needle aspiration (FNA) cytology from 9 patients (n = 10 samples) and describe their clinical, cytological, and molecular features.
Our cohort included 5 boys and 4 girls (median age, 2.5 years [range, 10 months to 13 years]) who presented with soft tissue masses in the thorax (n = 3), abdomen (n = 2), axilla (n = 2), and thigh (n = 2). In 1 patient, the FNA diagnosis was inconclusive due to hypocellularity, and in another patient a diagnosis of benign lipomatous tumor was made. In the remaining 8 samples (one of which confirmed relapse), a correct preoperative FNA diagnosis was rendered. Smears were hypo- to moderately cellular and contained fragments of mature adipose tissue with thin branching vessels admixed with some lipoblasts in a myxoid matrix. Spindle cells and naked oval nuclei with no atypia were observed in the background. Of the 4 patients tested for PLAG1 rearrangement using FISH probes, 3 harbored this alteration (1 was made on a FNA smear and 1 was made in a tumor imprint). All the patients are alive and well, except for 1 patient with a retroperitoneal tumor who, after an initial incomplete excision, died of local disease progression.
FNA, especially if used together with molecular biology techniques (eg, PLAG1 FISH analysis), is a reliable and accurate diagnostic tool. Cancer Cytopathol 2017;125:934-9. ? 2017 American Cancer Society.

摘要

脂母细胞瘤是一种罕见的良性脂肪细胞肿瘤,主要发病于婴儿时期。大约70%的病例含有8号染色体的异常,主要导致PLAG1基因的重排。

我们报道了一系列组织学证实的9个病人(10个样本)脂母细胞瘤的细针穿刺细胞学,并描述了它们的临床、细胞学和分子的特征。

我们的病例系列包括5个男孩和4个女孩(平均年龄2.5岁,范围10个月到13岁),分别在胸腔(n=3)、腹部(n=2)、腋下(n=2)和大腿(n=2)出现软组织肿块。其中一个病人由于细胞量不足而无法诊断,而另一个病人诊断为良性脂肪瘤。剩余8例(其中一例证实复发)做出了正确的术前FNA诊断。涂片内见少到中等量的细胞量,含有成熟的脂肪组织碎片,伴薄的分支血管混合着黏液样基质中的一些脂母细胞。在背景中可见没有异形的梭形细胞和裸核卵圆形细胞。4个病人用FISH探针测试到PLAG1重排,3个含有该改变(一个在FNA涂片上,一个在肿瘤的印片上)。除了一例腹膜后肿瘤最初切除不彻底而死于局部疾病的进展外,其余均存活,情况良好。FNA、特别是与分子生物学技术(如PLAG1的FISH分析)一起使用,对该肿瘤而言是一个可靠而准确的诊断工具。

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