Grade Progression and Intrapatient Tumor Heterogeneity as Potential Contributors to Resistance in Gastroenteropancreatic Neuroendocrine Tumors

Varghese, Diana Grace; Rivero, Jaydira del; Bergsland, Emily K.

doi:10.3390/cancers15143712

Cited by 2 publications

(1 citation statement)

References 92 publications

(197 reference statements)

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“…Current studies based on next-generation sequencing (NGS) interpretation have shown that tumor variant burden (TMB) in synchronous and metachronous metastatic samples (liver and lymph nodes) is sometimes different from that of the primary tumor (pancreas). Analysis of the clonal and subclonal architecture and genetic pro le suggests that most metastatic subclones could be traced back to the initial tumor [21,22].…”

Section: Discussionmentioning

confidence: 99%

Follow-up study of a Colombian family with a novel MEN1 variant and rare ACTH-producing pancreatic neuroendocrine carcinoma

Riaño-Moreno,

González-Clavijo,

Torres-Jara

et al. 2023

Preprint

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Purpose This article reports on a 12-year follow-up of a Colombian family with a novel MEN1 gene variant (c.698dup, p.Met233IlefsTer4), identified through cascade genetic screening. The index case involved a rare type of tumor, an ACTH-secreting pancreatic neuroendocrine carcinoma.Methods The index case underwent MEN1 testing after presenting with pancreatic neuroendocrine tumors and hyperparathyroidism. Cascade genetic screening of relatives revealed four additional carriers. Biochemical and imaging surveillance was conducted as per clinical guidelines.Results All affected family members first showed signs of primary hyperparathyroidism (PHPT) in their 20s to 50s. Notably, the index case developed a rare type of tumor known as ACTH-secreting pancreatic neuroendocrine carcinoma, which, to our knowledge, is the first instance reported in a MEN1-affected family. Due to proactive screening, pituitary neuroendocrine tumors (PitNETs) were identified as microadenomas in two carriers.Conclusion This study demonstrates the value of cascade screening for early diagnosis and tailored management in MEN1 families. It also reports a unique ACTH-producing pancreatic neuroendocrine carcinoma in MEN1. Systematic documentation of cases is critical to elucidating geographical and phenotypic variation and devising genotype-based management approaches.

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Section: Discussionmentioning

confidence: 99%

Follow-up study of a Colombian family with a novel MEN1 variant and rare ACTH-producing pancreatic neuroendocrine carcinoma

Riaño-Moreno,

González-Clavijo,

Torres-Jara

et al. 2023

Preprint

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NEC versus NET G3—is there a grey zone? Case report of pancreatic NET G3 with rapid disease progression

Melhorn,

Raderer,

Mazal

et al. 2024

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Summary Introduction Patients with well-differentiated neuroendocrine tumors of grade 3 (NET G3) exhibit a significantly better survival than patients with poorly differentiated neuroendocrine carcinomas (NEC). However, some cases of NET G3 with high Ki-67 index present with highly aggressive clinical behavior, prompting the question whether there are selected tumors representing a biological continuum between NET G3 and NEC. Case presentation Here we report the case of a 49-year-old man with pancreatic NET G3 metastasized to the liver. Surgery was not indicated, and the patient was initially treated with cisplatin/etoposide on account of the high proliferation rate (Ki-67 index of 50%). Restaging showed immediate disease progression with new liver metastases, so therapy with capecitabine/temozolomide was initiated and continued until progressive disease after 7 cycles. Comprehensive diagnostic evaluation, including functional imaging and genetic analyses, revealed no potential therapeutic targets, and further treatment options were limited. The patient died shortly after a therapeutic attempt with streptozotocin/5-fluorouracil. Conclusion This case exemplifies the unfortunate course of a rapidly progressive NET G3 and highlights the limited number of effective therapies for some tumors within the relatively new cohort of NET G3 with a yet unsatisfactory understanding of its underlying tumor biology and behavioral spectrum.

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Grade Progression and Intrapatient Tumor Heterogeneity as Potential Contributors to Resistance in Gastroenteropancreatic Neuroendocrine Tumors

Cited by 2 publications

References 92 publications

Follow-up study of a Colombian family with a novel MEN1 variant and rare ACTH-producing pancreatic neuroendocrine carcinoma

Follow-up study of a Colombian family with a novel MEN1 variant and rare ACTH-producing pancreatic neuroendocrine carcinoma

NEC versus NET G3—is there a grey zone? Case report of pancreatic NET G3 with rapid disease progression

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