دورية أكاديمية
Molecular heterogeneity of pancreatic intraductal papillary mucinous neoplasms and implications for novel endoscopic tissue sampling strategies.
العنوان: | Molecular heterogeneity of pancreatic intraductal papillary mucinous neoplasms and implications for novel endoscopic tissue sampling strategies. |
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المؤلفون: | Rift CV; Department of Pathology, Rigshospitalet, Copenhagen, Denmark charlotte.vestrup.rift@regionh.dk., Melchior LC; Department of Pathology, Rigshospitalet, Copenhagen, Denmark., Scheie D; Department of Pathology, Rigshospitalet, Copenhagen, Denmark., Hansen CP; Department of Surgery, Rigshospitalet, Copenhagen, Denmark., Lund EL; Department of Pathology, Rigshospitalet, Copenhagen, Denmark., Hasselby JP; Department of Pathology, Rigshospitalet, Copenhagen, Denmark. |
المصدر: | Journal of clinical pathology [J Clin Pathol] 2021 May 26. Date of Electronic Publication: 2021 May 26. |
Publication Model: | Ahead of Print |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0376601 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-4146 (Electronic) Linking ISSN: 00219746 NLM ISO Abbreviation: J Clin Pathol Subsets: MEDLINE |
أسماء مطبوعة: | Publication: London : BMJ Pub. Group Original Publication: London : British Medical Association |
مستخلص: | 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. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.) |
فهرسة مساهمة: | Keywords: diagnostic techniques and procedures; molecular; pancreas; pancreatic neoplasms; pathology |
تواريخ الأحداث: | Date Created: 20210527 Latest Revision: 20240222 |
رمز التحديث: | 20240223 |
DOI: | 10.1136/jclinpath-2021-207598 |
PMID: | 34039665 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1472-4146 |
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DOI: | 10.1136/jclinpath-2021-207598 |