Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
E-pub ahead of print

Molecular heterogeneity of pancreatic intraductal papillary mucinous neoplasms and implications for novel endoscopic tissue sampling strategies

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Prolonging fixation time of an alternative fixative to formalin for dermatological samples using standard laboratory protocols

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Predictive value of AZGP1 following radical prostatectomy for prostate cancer: a cohort study and meta-analysis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. JAK2-tree: a simple CBC-based decision rule to guide appropriate JAK2 V617F mutation testing

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Hypoxia-inducible factor 1α predicts recurrence in high-grade soft tissue sarcoma of extremities and trunk wall

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Pancreatic surgery during the COVID-19 pandemic 2020-2021: an observational cohort study from a third level referral center

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Letter to the Editor. Copenhagen grading of meningioma

    Publikation: Bidrag til tidsskriftLetterForskningpeer review

  3. Implementation of TERT promoter mutations improve prognostication of the WHO classification in meningioma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

AIMS: Intraductal papillary mucinous neoplasms (IPMNs) may be precursor lesions of pancreatic cancer. The path towards malignancy is associated with mutations in tumour suppressor-and oncogenes that may serve as biomarkers during diagnostic investigation. A novel micro forceps has made it possible to obtain biopsies from the cyst wall for analysis by next generation sequencing (NGS), providing an opportunity for early detection and intervention. However, the impact of spatial tumour heterogeneity on the representability of the biopsies has not been determined. The primary aim is to characterise the impact of molecular heterogeneity of the luminal cyst wall on tissue sampling strategies with small biopsies.

METHODS: We performed NGS and immunohistochemical phenotyping on 18 resected IPMNs with varying degrees of dysplasia and for a subset, concomitant carcinoma, using a commercially available NGS-panel of 51 oncogenes. We simulated endoscopic biopsies by performing punch biopsies (PBs) of the cyst wall from resected specimens.

RESULTS: In total, 127 NGS analyses were performed. Concomitant KRAS and GNAS was a common feature of the IPMNs. Mutations in KRAS and GNAS were associated with low-grade dysplasia whereas alterations in TP53, SMAD4, CDKN2A and PIK3CA were associated with high-grade dysplasia and/or carcinoma. The mutational analysis of the PBs from the cyst wall was compared with the whole lesion. No difference was detected between PBs and whole lesions when the cumulated mutational profile in increasing order of randomly performed PBs was compared.

CONCLUSIONS: Small IPMN biopsies from the cyst wall are adequate to yield a molecular diagnosis.

OriginalsprogEngelsk
TidsskriftJournal of Clinical Pathology
ISSN0021-9746
DOI
StatusE-pub ahead of print - 2022

Bibliografisk note

© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.

ID: 70950321