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同步性黑色素瘤和胰腺恶性肿瘤促使在一名无已知家族病史的患者中发现CDKN2A突变。

Synchronous Melanoma and Pancreas Malignancies Leading to a Discovery of a CDKN2A Mutation in a Patient with No Known Family History.

作者信息

O'Reilly Mary, Keane Fergus, Mc Dermott Ray

机构信息

St Vincent's University Hospital, Dublin, Ireland.

出版信息

Case Rep Oncol. 2021 Mar 3;14(1):333-337. doi: 10.1159/000512999. eCollection 2021 Jan-Apr.

Abstract

We report a case of a 60-year-old male with metachronous primary malignancies, pancreatic cancer and malignant melanoma which recurred simultaneously. Both cancers were challenging to diagnose and throughout the case at different times, the presence of two active malignancies obscured the clinical picture. A bleeding gastric lesion found in the stomach 6 months after a distal pancreatectomy for pancreatic adenocarcinoma revealed metastatic melanoma, presumed secondary from a melanoma excised from the patient's back 2 years previously. During surgery intended to resect the gastric lesion, peritoneal nodularity was identified, with histology confirming metastatic pancreas cancer. This case highlights two main points of interest. Firstly it emphasises the role for consideration of a genetic predisposition in young patients with more than one primary malignancy. The man in this case was not informed of his family history as he was adopted. If he had knowledge of previous family history, he may have been able to provide information to expedite arrival at the diagnosis of a CDKN2A mutation (melanoma-pancreatic carcinoma syndrome). In addition, this case also raises the issue of the challenges we face when treating synchronous primary malignancies. The two malignancies here behaved equally aggressively and posed obstacles for treatment as there is no mutual method of carcinogenesis that could be targeted with treatment; therefore, treatment modalities had to be chosen to treat each malignancy separately. To date, studies evaluating the role for targeted therapy in the setting of CDKN2A mutations have not conclusively provided meaningful benefits to patients.

摘要

我们报告一例60岁男性患者,患有异时性原发性恶性肿瘤,胰腺癌和恶性黑色素瘤同时复发。两种癌症的诊断都颇具挑战性,在整个病程的不同阶段,两种活跃的恶性肿瘤使临床表现变得模糊不清。在因胰腺腺癌行远端胰腺切除术后6个月,在胃内发现一个出血性胃病变,病理显示为转移性黑色素瘤,推测继发于2年前从患者背部切除的黑色素瘤。在打算切除胃病变的手术过程中,发现了腹膜结节,组织学检查证实为转移性胰腺癌。本病例突出了两个主要关注点。首先,它强调了在患有不止一种原发性恶性肿瘤的年轻患者中考虑遗传易感性的作用。该病例中的男子由于是养子,未被告知其家族病史。如果他了解家族病史,可能就能提供信息,加快对CDKN2A突变(黑色素瘤-胰腺癌综合征)的诊断。此外,该病例还提出了我们在治疗同步原发性恶性肿瘤时所面临的挑战问题。这里的两种恶性肿瘤侵袭性相当,给治疗带来了障碍,因为不存在可针对治疗的共同致癌机制;因此,必须选择分别针对每种恶性肿瘤的治疗方式。迄今为止,评估靶向治疗在CDKN2A突变情况下作用的研究尚未确凿地为患者带来有意义的益处。

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Second malignant neoplasms: assessment and strategies for risk reduction.第二恶性肿瘤:评估与降低风险策略。
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Pancreatic cancer and the FAMMM syndrome.胰腺癌与家族性非典型性多发痣黑素瘤综合征
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