Feasibility and yield of screening in relatives from familial pancreatic cancer families

Abstract

Objectives: Pancreatic adenocarcinoma is a lethal disease. Over 80% of patients are found to have metastatic disease at the time of diagnosis. Strategies to improve disease-specific outcome include identification and early detection of precursor lesions or early cancers in high-risk groups. In this study, we investigate whether screening at-risk relatives of familial pancreatic cancer (FPC) patients is safe and has significant yield.

Methods: We enrolled 309 asymptomatic at-risk relatives into our Familial Pancreatic Tumor Registry (FPTR) and offered them screening with magnetic resonance cholangiopancreaticogram (MRCP) followed by endoscopic ultrasound (EUS) with fine needle aspiration if indicated. Relatives with findings were referred for surgical evaluation.

Results: As of 1 August 2009, 109 relatives had completed at least one cycle of screening. Abnormal radiographic findings were present on initial screening in 18/109 patients (16.5%), 15 of whom underwent EUS. A significant abnormality was confirmed in 9 of 15 patients, 6 of whom ultimately had surgery for an overall diagnostic yield of 8.3% (9/109). Yield was greatest in relatives >65 years old (35%, 6/17) when compared with relatives 55-65 years (3%, 1/31) and relatives <55 years (3%, 2/61).

Conclusions: Screening at-risk relatives from FPC families has a significant diagnostic yield, particularly in relatives >65 years of age, confirming prior studies. MRCP as initial screening modality is safe and effective.

Figure 1

Figure 2

Figure 3

Figure 4

Patient 1 is a 73 year old woman with one FDR and one SDR (father diagnosed at age 70 and paternal grandmother at age 77). On initial MRCP, patient 1 was found to have a cystic pancreatic head lesion. Subsequent EUS showed two cystic lesions in the head and neck of the pancreas, communicating with branches of the PD. FNA of cyst fluid was performed, cytology from which was suspicious for malignant cells. Based on this, surgical resection was recommended, and the patient underwent a pylorus sparing pancreaticoduodenectomy. Pathology revealed multifocal IPMN of borderline malignant potential, predominately involving side branches. She recovered well from surgery and continues with surveillance of her remnant pancreas.

Figure 4

Patient 1 is a 73 year old woman with one FDR and one SDR (father diagnosed at age 70 and paternal grandmother at age 77). On initial MRCP, patient 1 was found to have a cystic pancreatic head lesion. Subsequent EUS showed two cystic lesions in the head and neck of the pancreas, communicating with branches of the PD. FNA of cyst fluid was performed, cytology from which was suspicious for malignant cells. Based on this, surgical resection was recommended, and the patient underwent a pylorus sparing pancreaticoduodenectomy. Pathology revealed multifocal IPMN of borderline malignant potential, predominately involving side branches. She recovered well from surgery and continues with surveillance of her remnant pancreas.

Figure 4

Patient 1 is a 73 year old woman with one FDR and one SDR (father diagnosed at age 70 and paternal grandmother at age 77). On initial MRCP, patient 1 was found to have a cystic pancreatic head lesion. Subsequent EUS showed two cystic lesions in the head and neck of the pancreas, communicating with branches of the PD. FNA of cyst fluid was performed, cytology from which was suspicious for malignant cells. Based on this, surgical resection was recommended, and the patient underwent a pylorus sparing pancreaticoduodenectomy. Pathology revealed multifocal IPMN of borderline malignant potential, predominately involving side branches. She recovered well from surgery and continues with surveillance of her remnant pancreas.