PDF(Pubmed)
Abstract：
Primary hepatoid adenocarcinoma of the gallbladder is a relatively rare type of extrahepatic adenocarcinoma. The genetic changes involved in this type of adenocarcinoma were unexplained so far. We reported a rare case of primary hepatoid adenocarcinoma of gallbladder with Mab-21 domain containing 2 (MB21D2), polypeptide N-acetylgalactosaminyltransferase 12 (GALNT12), and AT-rich interaction domain 2 (ARID2) mutations, which was confirmed after surgical resection pathologically.
A 69-year-old female with distention of hypogastrium and constipation received enema treatment, but ineffectively. No abnormalities were found on relevant physical examination. Then, the CT and MRI demonstrated a 3.3-4-cm soft tissue mass shadow in the neck of the gallbladder. The primary lesions consisted of two components: high-grade intraepithelial neoplasia of glands and hepatoid glands microscopically after laparoscope cholecystectomy. Immunohistochemical staining showed the sameness and difference of the two areas. Furthermore, tumor mutational burden (TMB) shows that the MB21D2, GALNT12, and ARID2 genes were mutated.
This is the first report of primary hepatoid adenocarcinoma of the gallbladder with MB21D2, GALNT12, and ARID2 mutations. This will provide a theoretical basis for genetic changes in rare tumors.
A 69-year-old female with distention of hypogastrium and constipation received enema treatment, but ineffectively. No abnormalities were found on relevant physical examination. Then, the CT and MRI demonstrated a 3.3-4-cm soft tissue mass shadow in the neck of the gallbladder. The primary lesions consisted of two components: high-grade intraepithelial neoplasia of glands and hepatoid glands microscopically after laparoscope cholecystectomy. Immunohistochemical staining showed the sameness and difference of the two areas. Furthermore, tumor mutational burden (TMB) shows that the MB21D2, GALNT12, and ARID2 genes were mutated.
This is the first report of primary hepatoid adenocarcinoma of the gallbladder with MB21D2, GALNT12, and ARID2 mutations. This will provide a theoretical basis for genetic changes in rare tumors.
摘要：
原发性胆囊肝样腺癌是一种相对罕见的肝外腺癌。到目前为止，这种类型的腺癌所涉及的遗传变化尚未得到解释。我们报道了一例罕见的胆囊原发性肝样腺癌，其中Mab-21结构域含2（MB21D2），多肽N-乙酰氨基半乳糖转移酶12（GALNT12），和AT丰富的相互作用域2（ARID2）突变，经手术切除病理证实。
一名69岁女性患者因胃下扩张和便秘接受灌肠治疗，但无效。相关体格检查未发现异常。然后，CT和MRI显示胆囊颈部有一个3.3-4厘米的软组织肿块阴影。原发性病变由两个部分组成：腹腔镜胆囊切除术后显微镜检查的腺体高级别上皮内瘤变和肝样腺体。免疫组织化学染色显示两个区域的相同和差异。此外，肿瘤突变负荷(TMB)显示MB21D2,GALNT12和ARID2基因突变.
这是首次报道MB21D2、GALNT12和ARID2突变的原发性胆囊肝样腺癌。这将为罕见肿瘤的遗传改变提供理论依据。
一名69岁女性患者因胃下扩张和便秘接受灌肠治疗，但无效。相关体格检查未发现异常。然后，CT和MRI显示胆囊颈部有一个3.3-4厘米的软组织肿块阴影。原发性病变由两个部分组成：腹腔镜胆囊切除术后显微镜检查的腺体高级别上皮内瘤变和肝样腺体。免疫组织化学染色显示两个区域的相同和差异。此外，肿瘤突变负荷(TMB)显示MB21D2,GALNT12和ARID2基因突变.
这是首次报道MB21D2、GALNT12和ARID2突变的原发性胆囊肝样腺癌。这将为罕见肿瘤的遗传改变提供理论依据。
