胰腺囊性肿瘤病理诊断的最新进展

K. Jang
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摘要

胰腺囊性肿瘤是一种较为常见的疾病。然而,其病理诊断并不容易。与其他器官细胞学或活检材料相比,最常见的问题是低细胞性。考虑到手术过程和解剖学上的困难,在活检标本中观察到低细胞涂片或细胞稀少的情况并不罕见。在这种情况下,分子病理学测试,包括下一代测序,可能会有所帮助。如果病理学家能在细胞或囊性液体中发现一些突变,囊性肿瘤的鉴别诊断可能是可能的。这些分别是KRAS和GNAS, VHL和CTNNB1在粘液囊性肿瘤,导管内乳头状-粘液性肿瘤,浆液性囊性肿瘤和实性假乳头状肿瘤中的突变。下一代测序是一种新兴的分子检测,可以检测多种生物标志物用于诊断,包括胰腺囊性肿瘤。有报道称,下一代测序技术可用于胰腺囊性肿瘤的鉴别诊断。然而,这些分子病理学检查并不是全面的;需要在病理学家的质量控制下妥善管理。需要注意的是,即使经过质量控制,也可能出现30%左右的不合格率。尽管高技术分子方法取得了进展,但在胰腺囊性肿瘤的病理诊断中,最重要的是内窥镜医师的技术和病理学家的专业知识,以提供足够的标本和准确的诊断。
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Recent Update in Pathologic Diagnosis for Pancreatic Cystic Neoplasm
Pancreas cystic neoplasm is a relatively common disease. However, its’ pathologic diagnosis is not easy. The most frequent problem is low cellularity when compared to another organ cytology or biopsy material. Considering the procedure and anatomic difficulty, it is not uncommon to observe a low cellular smear or scanty volume of cells in the biopsy specimen. In this case, the molecular pathology test, including nextgeneration sequencing, may be helpful. If pathologist can identify some mutation in cells or cystic fluid, differential diagnosis of cystic neoplasm may be possible. These are KRAS and GNAS, VHL, and CTNNB1 mutation in mucinous cystic neoplasm, intraductal papillary-mucinous neoplasm, serous cystic neoplasm, and solid pseudopapillary neoplasm, respectively. The next-generation sequencing is an emerging molecular test that can detect multiple biomarkers for diagnosis, including pancreas cystic neoplasm. It has been reported that next-generation sequencing test can be applied for differential diagnosis of pancreas cystic neoplasm. However, these molecular pathology tests were not all-around; it needs to be properly managed with pathologist’s quality control. It should be remembered that even if it goes through quality control, it may show a failure rate of around 30%. Despite the advances in molecular methods of high techniques, it should be remembered that the most important thing in pathologic diagnosis of pancreas cystic neoplasm is an endoscopist’s skill and pathologist’s expertise those provide adequate specimen and accurate diagnosis.
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