临床

表现

好发于20～40岁成人，球血管瘤（glomangioma）多见于儿童。好发于肢体远端的动静脉吻合支，即正常血管球细胞所在处，故最好发部位为手指甲床下（女性多见），也常见于手掌、腕部、前臂和足的皮下或浅表软组织内。消化道以胃最常见，全身其他部位也可见。90%病例为孤立性，10%为多发性（多为儿童患者）。临床表现为发作性疼痛（冷刺激或触摸时引发），从患处向外放射。

大体形态

肿瘤体积小，多在2cm以下。肿瘤周界清晰，多无包膜，质软，灰红。

  组织

形态学

根据瘤细胞、血管结构和平滑肌组织的不同比例，分为三种类型：

①固有球瘤（glomus proper）：占75%，界限清楚，由形态一致的圆形细胞组成，呈片状分布在血管之间或呈环状围绕在血管周围，也可呈血管外皮瘤样排列。瘤细胞呈规则的圆形，胞质淡染透明或淡嗜伊红色，细胞边界清晰，PAS染色更明显。圆形核位于细胞中央，间质可伴玻璃样变或黏液样；

②球血管瘤（glomangioma）：界限不清，瘤内血管多为扩张的海绵状血管，血管周围的球细胞簇少而菲薄，血管腔内可有血栓或静脉石；

③球血管肌瘤（glomangiomyoma）: 除规则的圆形球细胞外，瘤内还含有平滑肌束，球细胞与平滑肌细胞相互之间有过度现象；

除上述经典形态外，部分病例瘤细胞胞质呈嗜酸性/上皮样，也称嗜酸细胞性血管球瘤（oncocytic glomus tumor）或上皮样血管球瘤（epithelioid glomus tumor）；

如瘤细胞的核因退变而具有明显的异型性时，称为共质体性或奇异性血管球瘤（symplastic or bizarre glomus tumor），但无核分裂象或坏死，类似于陈旧性神经鞘瘤或奇异性平滑肌瘤。

如见类似血管外皮瘤样的分支或鹿角状血管，瘤细胞可呈梭形，称为球周皮细胞瘤（glomangiopericytoma）；

 免疫

表型

瘤细胞表达a-SMA、calponin、vimentin和IV型胶原（鸡爪样）；

偶可表达CD34、NGFR和髓鞘相关糖蛋白；

一般不表达desmin（偶尔局灶阳性）、AE1/AE3和S100，偶可表达Syn，但不表达CgA，不要误诊为神经内分泌肿瘤。

 鉴别

诊断

① A cellular, epithelioid glomus tumor may occasionally be confused with a solid variant of nodular hidradenoma. In contrast to a glomus tumor, nodular hidradenoma is positive for keratins, EMA, and carcinoembryonic antigen.

② Unlike glomus tumors, intradermal melanocytic nevus (including

the pseudovascular variant) is composed of S-100 protein-positive cells.

③ A carcinoma can be excluded based on clinical findings, reactivity

for keratin and EMA, and negativity for smooth muscle actin.

④ Conventional cavernous hemangioma may superficially resemble

glomangioma. However, unlike conventional cavernous hemangioma,

glomangioma shows a thin rim of glomus cells situated around the

vascular spaces.

⑤ Glomus tumors showing a well-developed smooth muscle component

or prominent hemangiopericytoma-like features may be confused with

myofibroma, infantile myofibromatosis, or myopericytoma. This distinction is of little importance, however, because these entities are related, benign lesions that lie on a morphologic continuum (Box 6.12). 

分子遗传学

NOTCH gene rearrangements occur in approximately 60% of glomus

tumors. NOTCH2 rearrangements predominate and are identified in

most malignant glomus tumors, whereas NOTCH1 and NOTCH3

rearrangements are found in a small subset of predominantly benign

glomus tumors. MIR143 has been identified as a fusion partner with

NOTCH in some cases. BRAF V600E and KRAS mutations have been

reported in a few glomus tumor cases.

治疗及预后

局部切除，切除不净可局部复发。