Presence of C11orf95-MKL2 fusion is a consistent finding in chondroid lipomas: a study of eight cases
Presence of C11orf95-MKL2 fusion is a consistent finding in chondroid lipomas: a study of eight cases
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DOI：
10.1111/his.12100
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发表时间：
2013-05-01
期刊：
影响因子：
6.4
通讯作者：
Mentzel, Thomas
中科院分区：
文献类型：
--
作者：
Flucke, Uta;Tops, Bastiaan B. J.;Mentzel, Thomas
目的软骨样脂肪瘤是一种良性脂肪组织肿瘤。它们的罕见和特殊的形态可能会导致误解，特别是在小的活检组织中。根据反复易位t(11；16)(q13；p13)，在少数病例中发现了C11orf95MKL2融合基因。因此，在更大的队列中寻找这种融合基因似乎是合适的。方法和结果我们描述了另外8例，女性4例，男性4例，年龄范围为2181岁(中位数49岁)。肿瘤位于小臂(3例)、小腿(2例)、大腿(1例)、背部(1例)和头部(1例)；7例位于深层，1例位于皮下。大小3~12 cm(中位数6.3 cm)。所有患者都接受了简单的切除治疗，6名患者(范围2个月至12年；中位数15个月)进行了随访，其中1例复发。组织学上，边界分叶的肿瘤表现为不同成分的脂肪细胞、脂肪母细胞、冬眠瘤样细胞和软骨母细胞样细胞嵌入在软骨基质中。4例进行免疫组织化学检查，S-100和泛角蛋白在3例肿瘤中的2例均呈阳性。RT-PCR检测8例中有7例为C11orf95MKL2融合基因。结论分子分析可用于软骨样脂肪瘤的诊断，特别是在小样本中。当鉴别诊断包括恶性病变时，这可能有助于计划治疗。
Aims Chondroid lipomas are benign adipose tissue tumours. Their rarity and peculiar morphology can lead to misinterpretation, especially in small biopsies. Based on a recurrent translocation t(11;16)(q13;p13), the C11orf95MKL2 fusion gene has been found in a few cases. Therefore, it seemed appropriate to look for this fusion gene in a larger cohort. Methods and results We describe eight further cases from four females and four males with an age range of 2181years (median 49years). The tumours were situated in the lower arm (three), lower leg (two), thigh (one), back (one) and head (one); seven lesions were deep-seated and one was located subcutaneously. Sizes ranged from 3 to 12cm (median 6.3cm). All patients were treated by simple excision, and follow-up, available for six patients (range 2months12years; median 15months), demonstrated recurrence in one case. Histologically, the circumscribed and lobulated tumours showed a variable composition of adipocytes, lipoblasts, hibernoma-like cells and chondroblast-like cells embedded in a chondroid matrix. Immunohistochemistry, performed in four cases, revealed positivity for S-100 and pancytokeratin in two of three neoplasms stained for each marker. A C11orf95MKL2 fusion gene was shown by RT-PCR analysis in seven of the eight cases. Conclusions Molecular analysis can be used to support the diagnosis of chondroid lipoma, especially in small samples. This may be helpful in planning treatment when the differential diagnosis includes malignant lesions.