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Mammary-type Myofibroblastoma: Clinicopathologic Characterization in a Series of 143 Cases.

乳腺型肌纤维母细胞瘤:143例病例的临床病理特征。

Abstract

Mammary-type myofibroblastoma (MTMF) is a benign mesenchymal neoplasm initially described to occur in the breast. MTMF is typically CD34 and desmin positive and genetically has rearrangement or deletion of 13q14, resulting in loss of Rb expression by immunohistochemistry (IHC). Although the wider anatomic distribution of MTMF is increasingly recognized, no large series with clinicopathologic information has been reported to date. Archival cases were retrieved, and the diagnosis of MTMF was confirmed. Hematoxylin and eosin-stained slides and IHC slides were reviewed when available (CD34, Desmin, Rb, SMA, S100, EMA, MDM2, CDK4). The patient age, sex, tumor anatomic location and size, preceding symptoms, and margin status were recorded when possible. Clinical follow-up data were requested for tumor recurrence, metastasis, and patient status at last follow-up. A total of 143 cases of MTMF comprised this study, affecting 94 (66%) male and 49 (34%) female individuals. Mean tumor size was 6.6 cm (range, 1 to 22 cm). Anatomic locations included: inguinal/groin region (65; 45%), breast (15; 10%), chest wall/axilla (7; 5%), trunk (17; 12%), lower (18; 13%) and upper (2; 1%) extremities, or intra-abdominal/retroperitoneal (14; 10%). MTMFs were characterized by spindle cells with relatively short, stubby nuclei and a variable adipocytic component. Hyalinization and myxoid stroma were common. Less common morphologic features included nuclear atypia, epithelioid tumor cell morphology, and neurilemmoma-type nuclear palisading. CD34 and desmin were positive in 89% and 91%, respectively, and were both negative in 3%. Rb expression was lost in 92% (57/62). No cases with follow-up data available had tumor recurrence, although 1 case was reportedly a recurrence itself. In summary, MTMF appears more common at extramammary sites than in the breast and can cause diagnostic difficulty when atypia or epithelioid morphology is present or when located in an unusual anatomic location. MTMF is frequently positive for CD34 and desmin by IHC; however, rare cases are negative for both. There is no evidence of any significant recurrence risk for MTMF, even in the presence of positive resection margins. The degree of morphologic overlap between spindle cell lipoma, cellular angiofibroma, and MTMF, in combination with shared genetics and slightly overlapping anatomic distribution, raises the question of whether or not these tumors are truly distinct entities or instead represent points along a single spectrum of genetically related tumors.

摘要

乳腺型肌纤维母细胞瘤(MTMF)是一种间叶来源的良性肿瘤,它最初是在乳腺中发现的。MTMF特征性地表达CD34和desim,并且在基因方面存在13q14基因的重排或缺失,因此在免疫组化中会出现Rb蛋白表达的缺失。尽管逐渐认识到MTMF存在更广泛的解剖分布,但是至今仍没有一个大病例的临床病理研究。我们检索了在档的病例,而且MTMF的诊断也是明确的。我们重新审阅了HE及CD34、Desmin、Rb、SMA、S100、EMA、MDM2、CDK4的免疫组化切片。我们尽可能地记录了患者的年龄、性别、肿瘤解剖位置和大小、前期症状以及边界情况。临床随访数据记录了肿瘤的复发、转移和病人最后一次随访的状况。这143例MTMF患者有94(66%)例男性和49(43%)例女性。肿瘤的平均大小为6.6cm(从1-22cm不等)。它们的解剖部位有:腹股沟/髂腹股沟区域(65;45%)、乳腺(15;10%)、胸壁/腋窝(7;5%)、躯干(17;12%)、下肢(18;13%)和上肢(14;10%)以及腹腔内/腹膜后(14;10%)。MTMF的特征为由有相对短粗细胞核的梭形细胞和不等量的脂肪细胞组成。透明样变和黏液样基质很常见。少见的形态学特征有细胞核的异型性、上皮样的肿瘤细胞和神经鞘瘤样栅栏状排列的细胞核。CD34和desmin阳性率分别是89%和91%,并且阴性率均为3%。Rb蛋白有92%(57/62)的表达缺失。据报道,尽管有1例病例复发,但是其他有随访数据的病例均无复发。总之,相比乳腺而言,MTMFA更容易发生在乳腺以外的部位,并且当出现非典型和上皮样的组织形态或者发生在不常见的解剖部位时会导致诊断困难。在免疫组化中MTMF常常会表达CD34和desmin;然而,少数病例两者会表达阴性。即使在切缘阳性的病例中,也没有找到MTMF任何可靠的复发因素。梭形细胞脂肪瘤、细胞性纤维血管瘤和MTMF在组织学上、基因学以及在解剖分布上的相似性向我们提出一个问题:这些肿瘤实际是一种肿瘤实体还是代表了一种基因相关肿瘤谱系?

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