a Internal Medicine Department , McLaren Regional Medical Center , Flint , MI , USA.
Cancer Biol Ther. 2019;20(5):593-596. doi: 10.1080/15384047.2018.1539291. Epub 2018 Nov 2.
A 65-year-old Caucasian female presented with abdominal symptoms and obstructive jaundice. She reported a significant pancreatic cancer history in her family. Her CT of the abdomen and pelvis showed 3.9 × 3.5 cm centrally necrotic mass within the pancreatic head, occluding the superior mesenteric and splenic veins; peripancreatic lymph nodes were enlarged, and there were many hepatic lesions. She underwent biopsy of the hepatic lesions showing metastatic tumor cells, arranged in the form of nests, with enlarged and hyperchromatic irregular nuclei with some nucleoli and moderate eosinophilic cytoplasm. Immunohistochemical staining on cancer cells was positive for CK7, P40, GATA3. These findings were concerning for poorly differentiated metastatic squamous cell carcinoma (SCC). PET-CT showed no other hypermetabolic lesions, suggestive of another primary except pancreatic head with SUV of 17.8, hepatic metastasis and 1 cm right retroperitoneal lymph node. The patient was diagnosed with metastatic SCC of the pancreas. Contrary to the well-known genetic mutations of pancreatic adenocarcinoma, the data on pancreatic SCC-related mutations is limited; however, one such mutation is BRCA-2 exon 15 germline mutation reported in a locally advanced SCC of the pancreas. The index patient is one of those rare cases in which a significant family history of pancreatic cancer was reported. We believe that some familial mutation could be responsible for this finding, i.e., occurrence of pancreatic cancer in multiple family members. Further research is necessary to explore such association.
一位 65 岁的白种女性因腹部症状和阻塞性黄疸就诊。她报告家族中有胰腺癌病史。她的腹部和骨盆 CT 显示胰头内有 3.9×3.5cm 的中央坏死肿块,阻塞了肠系膜上静脉和脾静脉;胰周淋巴结肿大,有许多肝病变。她对肝病变进行了活检,显示转移性肿瘤细胞排列呈巢状,细胞核增大、深染,形状不规则,有一些核仁,细胞质中度嗜酸性。癌细胞的免疫组织化学染色 CK7、P40、GATA3 阳性。这些发现提示为分化差的转移性鳞状细胞癌(SCC)。PET-CT 未显示其他高代谢病变,除胰头 SUV 为 17.8、肝转移和 1cm 右侧腹膜后淋巴结外,提示为另一个原发性病变。患者被诊断为胰腺转移性 SCC。与众所周知的胰腺腺癌基因突变相反,有关胰腺 SCC 相关突变的数据有限;然而,在局部晚期胰腺 SCC 中报告了一种这样的突变,即 BRCA-2 外显子 15 种系突变。该患者是报告有胰腺癌家族史的罕见病例之一。我们认为,某些家族性突变可能是导致这种情况的原因,即在多个家族成员中发生胰腺癌。需要进一步研究来探讨这种关联。