原发性食管恶性黑色素瘤伴十二指肠转移一例

2019-08-21 不详 消化科空间

原发性食管恶性黑色素瘤是一种极为罕见的疾病,预后较差。现报道一例原发性食管恶性黑色素瘤并伴有十二指肠转移,通过内镜检查及病理确诊,为临床提供参考。

摘要

原发性食管恶性黑色素瘤是一种极为罕见的疾病,预后较差。现报道一例原发性食管恶性黑色素瘤并伴有十二指肠转移,通过内镜检查及病理确诊,为临床提供参考。

患者男,72岁,因"进行性吞咽困难半个月"入院。自起病以来反复出现吞咽困难,以进食固体食物明显,呈进行性加重,伴餐后烧心、反酸、呃逆。患者既往身体健康,否认慢性病史及传染病史。体检:生命体征平稳,皮肤黏膜未见异常,心肺腹查体无特殊。胸腹部CT示食管上段扩张,食管中段壁不规则增厚,考虑为食管癌,伴双肺及纵隔淋巴结转移,肝囊肿,腹腔淋巴结未肿大。镜检查:(1)距门齿22~40 cm食管壁一长约18 cm环形肿物向食管腔内生长,表面有灰褐色色素沉着,并呈结节样隆起,质腐(图1A),病理诊断为食管恶性黑色素瘤(图1B),免疫组织化学AE1/AE3(-)、P63(-)、HMB-45(+)(图1C)、S-100(+)(图1D)、Ki-67(10%+);(2)十二指肠球部大弯偏后壁黏膜见一大小约3.0 cm×2.5 cm巨大溃疡,底部不平,表面覆白苔,周围黏膜色泽灰暗,质地中等(图2A),病理诊断为小肠黏膜固有层内见恶性黑色素瘤浸润(考虑为继发性)(图2B)。初步诊断为:原发性食管恶性黑色素瘤伴十二指肠转移。





讨论

恶性黑色素瘤是一种恶性肿瘤,占肠道恶性肿瘤的1%~3%,分为原发性和转移性。原发性消化道黑色素瘤最常见于直肠肛门,其次是食管,并且原发性食管黑色素瘤好发于食管远端2/3。消化道黑色素瘤临床症状不典型,包括:(1)食管黑色素瘤表现为胸骨后或胸背部痛,其他部位则表现为腹痛;(2)食管黑色素瘤大多伴有吞咽困难症状;(3)食管黑色素瘤表现为呕血或解黑便,直肠、肛门黑色素瘤表现为便血;(4)小肠黑色素瘤可出现肠套叠及肠梗阻症状;(5)乏力、贫血、体重减轻等全身表现。

消化道黑色素瘤的诊断方法包括内镜检查及组织活检、CT等。原发性食管黑色素瘤主要依靠内镜检查及活检,内镜下表现为边界清、伴有色素沉着的隆起,部分可被覆正常的黏膜,很少伴有溃疡;隆起以黑色为主,但也表现为灰白色或其他彩色。小肠黑色素瘤的诊断主要依靠腹部CT、PET-CT影像学检查及胶囊内镜检查。消化道黑色素瘤病理学检查在镜下可见大小不一的黑色素瘤细胞,细胞呈多边形或梭形,瘤细胞呈巢状、条索状排列,细胞质内可见黑色素颗粒,可侵入黏膜下层。免疫组化是鉴别黑色素瘤的主要手段,S-100蛋白、HMB-45和波形蛋白(Vimentin)三个指标对恶性黑色素瘤诊断具有特异性。

一般情况下,恶性黑色素瘤首先发生局部淋巴结转移,晚期出现血行转移,常见的转移器官为肝、肺、皮肤等。其中,由于小肠具有丰富的血液供应及淋巴结,所以小肠是消化道中黑色素瘤转移的常见部位。转移病灶的诊断则依靠CT、MRI、FDG-PET、胶囊内镜。胶囊内镜在检测和定位小肠转移瘤方面更准确;FDG-PET是被认为是探索黑素色素瘤转移病灶的最准确技术,Crippa等研究发现当肿瘤直径大于10 mm时,FDG-PET能100%发现病灶,直径6~10 mm时为83%,直径小于5 mm时为23%。

消化道黑色素瘤治疗首选手术,对于侵入黏膜下层或深层的病例应行根治性手术及辅助化疗治疗。在手术切除同时行前哨淋巴结清扫,当前哨淋巴结阳性或有淋巴结转移时,应行区域淋巴结清扫,辅助化疗主要是以TMZ(替莫唑胺)/DTIC(达卡巴嗪)为主4~6次。对于晚期患者,一般给予综合治疗,包括化疗、靶向治疗、KIT抑制剂等治疗。该病恶性程度高,预后差,患者生存时间随着原发病灶的大小、浸润程度增加而逐渐减少。本例患者因吞咽困难入院,在胃镜下发现食管、十二指肠球部病变,经病理及免疫组化确诊,行CT检查发现肺部及纵隔淋巴结转移,而腹腔脏器未见确切转移灶,腹腔淋巴结无肿大。但由于医疗条件受限,患者未行PET-CT检查。将患者病情与上述相关知识结合,考虑为原发性食管黑色素瘤并伴有十二指肠、肺部转移。患者由于年龄大、经济条件差等诸多因素影响,在确诊后,自动出院。后进行随访,患者出院后未再行系统治疗,5个月后死亡。

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    2019-08-26 sunylz
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    2019-08-23 zhouqu_8
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