Røe Oluf Dimitri, Wahl Sissel Gyrid Freim
Cancer Clinic, Department of Surgery, Levanger Hospital, Nord-Trøndelag Hospital Trust, Kirkegata 2, N-7600, Levanger, Norway.
Department of Cancer Research and Molecular Medicine, Faculty of Medicine, Norwegian University of Science and Technology (NTNU), Prinsesse Kristinsgt. 1, N-7491, Trondheim, Norway.
J Med Case Rep. 2017 Mar 27;11(1):82. doi: 10.1186/s13256-017-1238-y.
Cancer of unknown primary site is still a demanding condition as it is per definition metastatic, with heterogeneous biological behavior, and it is often resistant to therapy. Cancer of unknown primary site accounts for approximately 1 to 5 % of all cancers, but is currently among the top six causes of cancer deaths in Western countries. To correctly identify the biological origin of the tumor, a large spectrum of differential diagnoses must be considered and scrutinized. At progression, re-biopsy might be necessary to reveal the true origin of the tumor or actionable targets.
A 62-year-old Norwegian woman, with a fast growing lump in her left groin, was primarily diagnosed as having undifferentiated carcinoma that was BRAF V600 positive. There was complete response with paclitaxel-carboplatin and she was recurrence-free for 18 months. She had recurrence in both lungs and subcutaneously in her left groin and thigh; a re-biopsy revealed transformation to a malignant melanoma. She was resistant to BRAF inhibitors, then treated with ipilimumab and is currently a long-term survivor of 4 years and 4 months since the first diagnosis, with no clinical or radiological evidence of recurrence.
A biopsy from patients with metastasis of unknown primary should be analyzed thoroughly to identify organ of origin, molecular make-up, and possible molecular targets. Re-biopsy of cancer of unknown primary site at progression can reveal the true cellular origin of the tumor as well as provide novel therapeutic opportunities, including immunotherapy.
原发部位不明的癌症仍然是一种棘手的病症，因为根据定义它是转移性的，具有异质性生物学行为，并且常常对治疗耐药。原发部位不明的癌症约占所有癌症的1%至5%，但目前是西方国家癌症死亡的六大主要原因之一。为了正确识别肿瘤的生物学起源，必须考虑并仔细审查大量的鉴别诊断。在疾病进展时，可能需要再次活检以揭示肿瘤的真正起源或可操作的靶点。
一名62岁的挪威女性，左腹股沟有一个快速生长的肿块，最初被诊断为BRAF V600阳性的未分化癌。使用紫杉醇-卡铂治疗后完全缓解，并且18个月无复发。她肺部及左腹股沟和大腿皮下出现复发；再次活检显示已转变为恶性黑色素瘤。她对BRAF抑制剂耐药，随后接受伊匹单抗治疗，自首次诊断以来目前已存活4年零4个月，无临床或影像学复发证据。
对原发部位不明的转移患者的活检应进行全面分析，以确定起源器官、分子组成和可能的分子靶点。在疾病进展时对原发部位不明的癌症进行再次活检可以揭示肿瘤的真正细胞起源，并提供新的治疗机会，包括免疫治疗。
