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Fibrous hamartoma of infancy: a clinicopathologic study of 145 cases, including 2 with sarcomatous features.

包括2例伴肉瘤特征在内的145例婴儿纤维性错构瘤临床病理学研究

Al-Ibraheemi A,Martinez A,Weiss SW,Kozakewich HP,Perez-Atayde AR,Tran H,Parham DM,Sukov WR,Fritchie KJ,Folpe AL
阅读:1497 Modern PathologyApr 2017; 30 (4): 472 - 629:474-485 

Abstract

Fibrous hamartoma of infancy is a rare soft tissue lesion of infants and young children with characteristic triphasic morphology, which typically occurs in the axilla and less commonly in other locations. We reviewed 145 cases of fibrous hamartoma of infancy from our consultation archives. Cases occurred in 106 males and 39 females (mean age-15 months; range-birth to 14 years), and involved both typical sites (eg, axilla/back/upper arm) (n=69) and unusual locations (n=76). Six were congenital. The tumors presented as subcutaneous masses and ranged from 0.4 to 17 cm (mean 3 cm). All displayed triphasic morphology, but varied widely in the relative percentages of fat, fibroblastic fascicles, and primitive mesenchyme. Hyalinized zones with cracking artifact, mimicking giant cell fibroblastoma, were present in a 44 (30%) of cases; however FISH for PDGFB gene rearrangement was negative in five tested cases. In addition to classical fibrous hamartoma of infancy, two lesions contained large sarcomatous-appearing foci with high cellularity, high nuclear grade, and brisk mitotic activity. One occurred in a 10-month-old female as a new mass in a congenital fibrous hamartoma of infancy; the other occurred as a leg mass in a 6-year-old male. ETV6 gene rearrangement was negative in the tumor from the 10-month-old female. Genomic microarray (OncoScan) showed normal molecular karyotype in eight tested cases, whereas the two tumors with sarcomatous features showed a hyperdiploid/near tetraploid molecular karyotype with copy neutral loss of heterozygosity of chromosomes 1p and 11p, and loss of 10p, chromosome 14, and a large portion of chromosome 22q (22q11.23q13.33), respectively. Follow-up (52 patients; range: 1-208 months, median: 8 months) showed only two local recurrences and no metastases. Extensive local disease in the 10-month-old female with sarcomatous-appearing fibrous hamartoma of infancy necessitated forequarter amputation. In summary, our study confirms the classic clinicopathologic features, including the triphasic morphologic appearance of most cases. In contrast to earlier studies, our series illustrates a broader histologic spectrum than previously appreciated, including its close resemblance to giant cell fibroblastoma in one quarter of cases and the rare presence of 'sarcomatous' areas, the latter providing evidence that these are complex neoplasms rather than hamartomas.

摘要

婴儿纤维性错构瘤是婴儿和低龄儿童少见的软组织病变,具有特征性的三种形态学表现,通常发生在腋下,其他部位不常见。

我们复习存档的145例婴儿纤维性错构瘤病例,其中男性106例、女性39例(平均年龄15个月,年龄范围从出生到14岁),典型发病部位(如腋下、背部、上肢)69例、不常见部位76例。6例为先天性病例。肿瘤表现为皮下包块,大小为0.4cm至17cm(平均3cm)。 

所有病例均显示三种组织学形态,但脂肪、纤维组织和原始间叶组织的比例变化较大。44例(30%)存在裂隙样透明带结构,类似巨细胞纤维母细胞瘤,但5例通过FISH检测PDGFB基因均阴性。

除了典型的婴儿纤维性错构瘤形态,2例还出现肉瘤样形态,表现为局灶细胞密度高、高级别细胞核及核分裂象增多。1例为具有先天性婴儿纤维性错构瘤的10个月女婴,因出现新的包块而就诊;1例为6岁男童,肿块位于腿部。10个月女婴新出现包块检测ETV6基因重排阴性。

检测的病例中,基因芯片(OncoScan)显示8例为正常核型,具有肉瘤样特征的2例为超二倍体/近四倍体核型,分别为染色体1p 和11p杂合性缺失,10p、14号染色体及22q (22q11.23q13.33)大片段缺失。

随访的52例(随访时间为1-208个月,中位时间8个月)中仅2例局部复发且无转移。发生于10个月女婴的具有肉瘤样特征的婴儿纤维性错构瘤因广泛局灶病变需要进行上肢截肢术。总之,我们的研究证实大多数婴儿纤维性错构瘤具有包括三种形态学在内的典型临床病理特征。与早期的研究相比,我们的研究表明婴儿纤维性错构瘤具有更广的组织形态学谱,包括约四分之一的病例有与巨细胞纤维母细胞瘤相似的形态学和罕见的肉瘤样区域表现,后者表明这些病变不是错构瘤,而是复杂的肿瘤。  


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