Pancreatic neuroendocrine tumours in patients with von Hippel-Lindau disease

Zwolak, Agnieszka; Tywanek, Ewa; Dudzińska, Marta; Tarach, Jerzy S.; Matyjaszek‐Matuszek, Beata

doi:10.5603/ep.a2020.0027

Cited by 8 publications

(7 citation statements)

References 34 publications

(75 reference statements)

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“…In a retrospective study, Zwolak et al ( 16 ) found that in the general population, PNETs in VHL have an estimated incidence of approximately 5–18%. However, PNETs comprise only 5% of pancreatic cancers and the association between PNETs and VHL is less than 0.5%.…”

Section: Resultsmentioning

confidence: 99%

Von Hippel-Lindau Syndrome: Medical Syndrome or Surgical Syndrome? A Surgical Perspective

Coco

Leanza

2021

jkcvhl

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Von Hippel-Lindau syndrome (VHL) is an autosomal dominant disease caused by a genetic aberration of the tumor suppressor gene VHL and characterized by multi-organ tumors. The most common neoplasm is retinal or cerebral hemangioblastoma, although spinal hemangio-blastomas, Renal Clear Cell Carcinoma (RCCC), pheochromocytomas (Pheo), paragangliomas, Pancreatic Neuroendocrine Tumors (PNETs), cystadenomas of the epididymis, and tumors of the lymphatic sac can also be found. Neurological complications from retinal or CNS hemangio-blastoma and metastases of RCCC are the most common causes of death. There is a strong association between pheochromocytoma and VHL syndrome, and pheochromocytoma is often a classic manifestation of the syndrome. RCCCs are often incidental and identified during other tests. Between 35 and 70% of patients with VHL have pancreatic cysts. These can manifest as simple cysts, serous cystoadenomas, or PNETs with a risk of malignant degeneration or metastasis of no more than 8%. The objective of this retrospective study is to analyze abdominal manifestations of VHL from a surgical point of view.

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Section: Resultsmentioning

confidence: 99%

Von Hippel-Lindau Syndrome: Medical Syndrome or Surgical Syndrome? A Surgical Perspective

Coco

Leanza

2021

jkcvhl

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“…Patients therefore require lifelong monitoring and management, which often includes multiple surgeries throughout their lives. Patients who undergo pancreatic surgery are at risk for several complications, including perioperative infections, development of diabetes mellitus, loss of exocrine function, and pancreatic fistulas ( 13 ).…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, 9% to 17% of patients with VHL disease will develop pNETs ( 3, 12 ). The prognosis for VHL disease–associated pNETs is generally favorable because pNETs are always nonfunctional and mostly asymptomatic ( 13–15 ). However, larger tumors have metastatic potential ( 16 ).…”

Section: Introductionmentioning

confidence: 99%

Belzutifan for von Hippel–Lindau Disease: Pancreatic Lesion Population of the Phase 2 LITESPARK-004 Study

Else,

Jonasch,

Iliopoulos

et al. 2024

Clinical Cancer Research

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Purpose: Primary analysis of the ongoing, single-arm, phase 2 LITESPARK-004 study (NCT03401788) showed clinically meaningful antitumor activity in von Hippel-Lindau (VHL) disease–associated renal cell carcinoma (RCC) and other neoplasms with belzutifan treatment. We describe results of belzutifan treatment for VHL disease-associated pancreatic lesions (pancreatic neuroendocrine tumors [pNETs] and serous cystadenomas). Patients and Methods: Adults with VHL diagnosis based on germline VHL alteration, ≥1 measurable RCC tumor, no renal tumor >3 cm or other VHL neoplasm requiring immediate surgery, Eastern Cooperative Oncology Group performance status of 0 or 1, and no prior systemic anticancer treatment received belzutifan 120 mg once daily. End points included objective response rate (ORR), duration of response (DOR), progression-free survival (PFS), and linear growth rate (LGR) in all pancreatic lesions and pNETs per Response Evaluation Criteria in Solid Tumors version 1.1 by independent review committee, and safety. Results: All 61 enrolled patients (100%) had ≥1 pancreatic lesion and 22 (36%) had ≥1 pNET measurable at baseline. Median follow-up was 37.8 months (range, 36.1–46.1). ORR was 84% (51/61; 17 complete responses) in pancreatic lesions and 91% (20/22; 7 complete responses) in pNETs. Median DOR and median PFS were not reached in pancreatic lesions or pNETs. After starting treatment, median LGR for pNETs was –4.2 mm per year (range, –7.9 to –0.8). Eleven patients (18%) had ≥1 grade 3 treatment-related adverse event (AE). No grade 4 or 5 treatment-related AEs occurred. Conclusions: Belzutifan continued to show robust activity and manageable safety in VHL disease–associated pNETs.

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“…DFI enabled the identification of small hypervascular lesions within 10 mm, which was unexpected (Figure 4c, 4d). The frame rate of DFI is higher than those of B-mode and eFLOW; thus, DFI can be used as a screening evaluation for patients with Multiple Endocrine Neoplasia type 1 or von Hippel-Lindau disease [39,40]. Hypersensitivity to vascular structures aided the avoidance of thick vessels during the EUS fine-needle biopsy (EUS-FNB) procedure (Figure 5).…”

Section: Discussionmentioning

confidence: 99%

Differential Diagnosis of Solid Pancreatic Lesions Using Detective Flow Imaging Endoscopic Ultrasonography

Miwa,

Sugimori,

Yonei

et al. 2024

Preprint

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Differential diagnosis of solid pancreatic lesions (SPLs) using B-mode endoscopic ultrasonography (EUS) is challenging. Detective flow imaging (DFI) offers the potential for detecting low-flow vessels in the pancreas, thus enhancing diagnostic accuracy. This study aimed to investigate DFI-EUS findings of SPLs and analyze their differential diagnostic accuracy for pancreatic cancer. This retrospective study included patients with pathologically confirmed SPLs who underwent EUS between April 2021 and June 2023. Expert endosonographers, blinded to the patients’ clinical data, evaluated images obtained through B-mode, eFLOW, and DFI-EUS. Frame rate and vessel detection sensitivity between eFLOW and DFI were compared, and diagnostic criteria for pancreatic cancer were established. This study included 104 patients, most diagnosed with pancreatic cancer. DFI-EUS demonstrated a significantly higher vessel visualization rate (96%) in SPLs compared to eFLOW (27%). Additionally, DFI showed a superior frame rate, sensitivity (99%), and accuracy (88%) in detecting pancreatic cancer, although with a modest specificity (43%). On DFI-EUS, characteristics such as hypovascular, peritumoral, or spotty vessel findings were suggestive of pancreatic cancer. DFI-EUS significantly improved the visualization of vascular structures within the SPLs, highlighting its efficacy as a diagnostic modality for pancreatic cancer.

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Pancreatic neuroendocrine tumours in patients with von Hippel-Lindau disease

Cited by 8 publications

References 34 publications

Von Hippel-Lindau Syndrome: Medical Syndrome or Surgical Syndrome? A Surgical Perspective

Von Hippel-Lindau Syndrome: Medical Syndrome or Surgical Syndrome? A Surgical Perspective

Belzutifan for von Hippel–Lindau Disease: Pancreatic Lesion Population of the Phase 2 LITESPARK-004 Study

Differential Diagnosis of Solid Pancreatic Lesions Using Detective Flow Imaging Endoscopic Ultrasonography

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