Departments of Visceral, Thoracic and Vascular Surgery, Philipps University Marburg, Baldingerstrasse, 35043, Marburg, Germany.
Gastroenterology and Endocrinology, University Hospital Marburg, Marburg, Germany.
Fam Cancer. 2023 Jul;22(3):323-330. doi: 10.1007/s10689-023-00328-1. Epub 2023 Jan 31.
Familial pancreatic cancer (FPC) is a rare hereditary tumor entity with broad phenotypic heterogeneity, including colorectal carcinoma (CRC) in some families. The underlying factors for this co-occurrence are still not well evaluated. FPC families in the National Case Collection of Familial Pancreatic Cancer with an additional occurrence of CRC were analyzed regarding the phenotype, genotype and recommendation for a clinical screening program. The total cohort of 272 FPC families included 30 (11%) families with at least one CRC case. The proportion of affected family members with PDAC was 16.1% (73/451) compared to 9.3% of family members with CRC (42/451, p < 0.01). Females were affected with PDAC in 49% (36/73) and CRC in 38% (16/42). The median age of PDAC was 63 compared to 66 years in CRC, whereas 8 (26.6%) of families had an early onset of PDAC and 2 (6.7%) of CRC. Seventeen families had 2 or more affected generations with PDAC and 6 families with CRC. Eleven (9.6%) of affected patients had both PDAC and CRC. Potentially causative germline mutations (2 ATM, 1 CDKN2a, 1 MLH1, 1 PALB2) were detected in 5 of 18 (27.7%) analyzed cases. These findings provide a step forward to include the phenotypic and genotypic characteristics of FPC-CRC families for the genetic counseling and management of these families. Nevertheless, results need to be verified in a larger patient cohort beforehand.
家族性胰腺癌（FPC）是一种罕见的遗传性肿瘤实体，具有广泛的表型异质性，包括一些家族中的结直肠癌（CRC）。这种共同发生的潜在因素仍未得到很好的评估。对国家家族性胰腺癌病例收集中出现 CRC 的 FPC 家族的表型、基因型和临床筛查计划建议进行了分析。总共 272 个 FPC 家族的队列包括 30 个（11%）至少有一个 CRC 病例的家族。PDAC 受影响家庭成员的比例为 16.1%（73/451），而 CRC 受影响家庭成员的比例为 9.3%（42/451，p<0.01）。女性患 PDAC 的比例为 49%（36/73），患 CRC 的比例为 38%（16/42）。PDAC 的中位年龄为 63 岁，而 CRC 为 66 岁，8 个（26.6%）家族的 PDAC 发病较早，2 个（6.7%）CRC 发病较早。17 个家族有 2 个或更多代的 PDAC 受影响，6 个家族有 CRC 受影响。11 名（9.6%）受影响的患者同时患有 PDAC 和 CRC。在分析的 18 例中，有 5 例（27.7%）检测到潜在致病种系突变（2 例 ATM、1 例 CDKN2a、1 例 MLH1、1 例 PALB2）。这些发现为遗传咨询和管理这些家族提供了一个步骤，以包括 FPC-CRC 家族的表型和基因型特征。然而，在此之前，结果需要在更大的患者队列中进行验证。
