Endoscopic ultrasound fine-needle biopsy to assess DAXX/ATRX expression and alternative lengthening of telomeres status in non-functional pancreatic neuroendocrine tumors

Mastrosimini, Maria Gaia; Manfrin, Erminia; Remo, Andrea; Bellis, Mario De; Parisi, Alice; Pedron, Serena; Luchini, Claudio; Brunelli, Matteo; Ammendola, Serena; Bernardoni, Laura; Bellocchi, Maria Cristina Conti; Gabbrielli, Armando; Facciorusso, Antonio; Pea, Antonio; Landoni, Luca; Scarpa, Aldo; Crinò, Stefano Francesco

doi:10.1016/j.pan.2023.05.002

Cited by 11 publications

(6 citation statements)

References 33 publications

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“…In recent years, EUS-FNB with end-cutting needles have revolutionized the practice of EUS-TA of solid lesions. Major changes included the possibility of abandoning ROSE, the retrieval of histological specimens for the diagnosis of rare conditions [14][15][16][17], and the reduction of needle passes. To this end, most endoscopists hold that, in most cases, a sufficient sample for diagnosis is retrieved after the first pass using an end-cutting needle.…”

Section: Discussionmentioning

confidence: 99%

Establishing the optimal number of passes during EUS-FNB for diagnosis of pancreatic solid lesions: Prospective multicenter study

Mangiavillano,

Facciorusso,

Di Matteo

et al. 2024

Endosc Int Open

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Background and study aims: The optimal number of needle passes during endoscopic ultrasound-guided fine-needle biopsy (EUS-FNB) is not yet established. We aimed to perform a per-pass analysis of the diagnostic accuracy of EUS-FNB of solid pancreatic lesions using a 22G Franseen needle. Patients and methods: Consecutive patients with solid pancreatic lesions referred to 11 Italian centers were prospectively enrolled. Three needle passes were performed; specimens were collected after each pass and processed individually as standard histology following macroscopic on-site evaluation (MOSE) by the endoscopist. The primary endpoint was diagnostic accuracy of each sequential pass. Final diagnosis was established on surgical pathology or based on clinical course of at least six months. Secondary endpoints were specimen adequacy, MOSE reliability, factors impacting diagnostic accuracy, and procedure-related adverse events. Results: 504 samples from 168 patients were evaluated. Diagnostic accuracy was 90.5% (85.0%-94.1%) after one pass and 97.6% (94.1%-99.3%) after two passes (p=0.01). Similarly, diagnostic sensitivity and sample adequacy were significantly higher adding the second needle pass (90.2%, 84.6%-94.3% vs 97.5%, 93.8%-99.3%, p=0.009 and 91.1%, 85.7%-94.9% vs 98.2%, 95.8%-99.3%, p=0.009, one pass vs two passes, respectively). Accuracy, sensitivity, and adequacy remained the same after the third pass. The concordance between MOSE and histological evaluation was 89.9%. The number of passes was the only factor associated with accuracy. One case of mild acute pancreatitis (0.6%) was managed conservatively. Conclusions: At least two passes should be performed for the diagnosis of solid pancreatic lesions. MOSE is a reliable tool to predict the histological adequacy of specimens.

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Section: Discussionmentioning

confidence: 99%

Establishing the optimal number of passes during EUS-FNB for diagnosis of pancreatic solid lesions: Prospective multicenter study

Mangiavillano,

Facciorusso,

Di Matteo

et al. 2024

Endosc Int Open

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“…Due to the rarity of the cystic appearance of pancreatic NET, however, to date, few data are available regarding the correct grading of cNET by TTNB, and the risk of misgrading due to the inhomogeneous expression of Ki67 in the cystic wall should be considered. In the future, it would be interesting to explore the possibility of performing the immunohistochemistry of new markers (i.e., DAXX/ATRX) that have demonstrated a strong correlation with histological features of aggressiveness [52]. Indeed, risk stratification is crucial also for the availability of less invasive locoregional treatments that could replace surgical resection in a limited subgroup of patients [53,54].…”

Section: Discussionmentioning

confidence: 99%

Rare Pancreatic/Peripancreatic Cystic Lesions Can Be Accurately Characterized by EUS with Through-the-Needle Biopsy—A Unique Pictorial Essay with Clinical and Histopathological Correlations

Conti Bellocchi,

Manfrin,

Brillo

et al. 2023

Diagnostics

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Due to their aspecific macroscopic appearance, uncommon pancreatic cystic lesions (PCLs) are often misdiagnosed as mucinous lesions and improperly resected. We aimed to evaluate the endoscopic ultrasound (EUS)-guided through-the-needle biopsy (TTNB) capacity of the preoperative diagnosis of uncommon PCLs. Overall, 136 patients with PCLs who underwent EUS-TTNB between 2016 and 2022 were retrospectively identified. Common histotypes (e.g., IPMN, serous cystadenoma, and mucinous cystadenoma) were excluded and 26 (19.1%) patients (15 female, mean age 52.9 ± 10.4) were analyzed. The EUS findings, adverse events (AEs), and TTNB outcomes in uncommon PCLs were evaluated. The cysts histotype was accurately diagnosed by TTNB in 24/26 (92.3%) cases (seven cystic neuroendocrine tumors, four squamoid cysts, three acinar cells cystadenomas, two lymphoepithelial cysts, two mucinous non-neoplastic cysts, two bronchogenic cysts, two cystic lymphangiomas, one solid-pseudopapillary neoplasm, and one schwannoma). In the remaining two cases, lymphangioma was eventually diagnosed after resection. Surgery was performed in 15/26 (57.7%) patients. The mean follow-up of non-surgical patients was 32.5 months. One severe acute case of pancreatitis (3.8%) that required surgery occurred after EUS-TTNB. Uncommon pancreatic/peripancreatic lesions represent the 19.1% of PCLs in our series, with mainly benign histotypes. TTNB demonstrated a high diagnostic performance with a low rate of AEs in this setting, representing a reliable tool with which to avoid useless surgery.

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“…A recent meta-analysis found that the grading concordance between preoperative EUS samples and surgical specimens was significantly better with EUS-FNB compared to EUS-FNA (84.2% vs. 79.5%) [ 94 ]. Detecting somatic mutations using next-generation sequencing (NGS) is an emerging technique to identify tumors with a propensity for aggressive behavior and metastasis [ 95 , 96 ]. Mutations in MEN1 (menin), DAXX (death domain associated protein), ATRX (thalassemia/mental retardation syndrome x-linked), and mTOR (mammalian target of rapamycin) have been shown to occur with varying frequency in sporadic PNETs.…”

Section: Role Of Endoscopy In the Diagnosis Staging And Management Of...mentioning

confidence: 99%

“…Both EUS-FNA and EUS-FNB can provide tissue for NGS to identify these mutations. However, EUS-FNB again has been shown to have a significantly higher yield [ 95 , 96 , 97 ]. EUS can also assess for potential resectability by evaluating multifocality and lymphovascular involvement.…”

Section: Role Of Endoscopy In the Diagnosis Staging And Management Of...mentioning

confidence: 99%

Role of Advanced Gastrointestinal Endoscopy in the Comprehensive Management of Neuroendocrine Neoplasms

Gopakumar,

Jahagirdar,

Koyi

et al. 2023

Cancers

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Neuroendocrine neoplasms (NENs), also called neuroendocrine tumors (NETs), are relatively uncommon, heterogenous tumors primarily originating in the gastrointestinal tract. With the improvement in technology and increasing use of cross-sectional imaging and endoscopy, they are being discovered with increasing frequency. Although traditionally considered indolent tumors with good prognoses, some NENs exhibit aggressive behavior. Timely diagnosis, risk stratification, and management can often be a challenge. In general, small NENs without local invasion or lymphovascular involvement can often be managed using minimally invasive advanced endoscopic techniques, while larger lesions and those with evidence of lymphovascular invasion require surgery, systemic therapy, or a combination thereof. Ideal management requires a comprehensive and accurate understanding of the stage and grade of the tumor. With the recent advancements, a therapeutic advanced endoscopist can play a pivotal role in diagnosing, staging, and managing this rare condition. High-definition white light imaging and digital image enhancing technologies like narrow band imaging (NBI) in the newer endoscopes have improved the diagnostic accuracy of traditional endoscopy. The refinement of endoscopic ultrasound (EUS) over the past decade has revolutionized the role of endoscopy in diagnosing and managing various pathologies, including NENs. In addition to EUS-directed diagnostic biopsies, it also offers the ability to precisely assess the depth of invasion and lymphovascular involvement and thus stage NENs accurately. EUS-directed locoregional ablative therapies are increasingly recognized as highly effective, minimally invasive treatment modalities for NENs, particularly pancreatic NENs. Advanced endoscopic resection techniques like endoscopic submucosal dissection (ESD), endoscopic submucosal resection (EMR), and endoscopic full-thickness resection (EFTR) have been increasingly used over the past decade with excellent results in achieving curative resection of various early-stage gastrointestinal luminal lesions including NENs. In this article, we aim to delineate NENs of the different segments of the gastrointestinal (GI) tract (esophagus, gastric, pancreatic, and small and large intestine) and their management with emphasis on the endoscopic management of these tumors.

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Endoscopic ultrasound fine-needle biopsy to assess DAXX/ATRX expression and alternative lengthening of telomeres status in non-functional pancreatic neuroendocrine tumors

Cited by 11 publications

References 33 publications

Establishing the optimal number of passes during EUS-FNB for diagnosis of pancreatic solid lesions: Prospective multicenter study

Establishing the optimal number of passes during EUS-FNB for diagnosis of pancreatic solid lesions: Prospective multicenter study

Rare Pancreatic/Peripancreatic Cystic Lesions Can Be Accurately Characterized by EUS with Through-the-Needle Biopsy—A Unique Pictorial Essay with Clinical and Histopathological Correlations

Role of Advanced Gastrointestinal Endoscopy in the Comprehensive Management of Neuroendocrine Neoplasms

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