Neurofibromatosis Type 1

Gauci, Julia; Azzopardi, Neville; Babić, Darko; Cortis, Kelvin; Axisa, Benedict

doi:10.1097/mpa.0000000000002068

Cited by 5 publications

(5 citation statements)

References 21 publications

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“…It has to be remembered that the most common NEN arises as a novo tumor. However, it can be related to some genetically based disorders like neurofibromatosis (NF), MEN-1 syndrome (MEN-1), von Hippel-Lindau (VHL) syndrome, or tuberous sclerosis complex (TSC) [45][46][47][48][49].…”

Section: Discussionmentioning

confidence: 99%

Epidemiology of Neuroendocrine Neoplasms and Results of Their Treatment with [177Lu]Lu-DOTA-TATE or [177Lu]Lu-DOTA-TATE and [90Y]Y-DOTA-TATE—A Six-Year Experience in High-Reference Polish Neuroendocrine Neoplasm Center

Durma,

Saracyn,

Kołodziej

et al. 2023

Cancers

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Neuroendocrine neoplasms (NENs) are a group of neoplasms arising from neuroendocrine cells. The worldwide incidence and prevalence of the NENs are estimated to be 6/100,000 and 35/100,000, respectively. Those numbers are increasing every decade, requiring higher and higher diagnosis and treatment costs. Radioligand therapy (RLT) using beta-emitting radioisotopes is an efficient and relatively safe method of treatment, typically used as a second-line treatment. RLT tolerability is higher than other available pharmacotherapies (chemotherapy or tyrosine kinase inhibitors). Recent studies show an increase in overall survival among patients treated with RLT. The present study aimed to learn the epidemiology of NENs in Poland and assess the effectiveness of RLT in a high-reference center. A prospective analysis of 167 patients treated with RLT in one of Poland’s highest-reference NEN centers was performed. The analysis covered 66 months of observation (1 December 2017–30 May 2023), during which 479 RLT single administrations of radioisotope were given. The standard procedure was to give four courses of [177Lu]Lu-DOTA-TATE alone, or tandem therapy—[177Lu]Lu-DOTA-TATE and [90Y]Y-DOTA-TATE. Grading analysis showed that most patients had non-functioning G2 NEN with a mean Ki-67 of 6.05% (SD ± 6.41). The most common primary tumor location was the pancreas. Over two-thirds of patients did undergo surgery due to primary tumors or distant metastases. The majority of patients were using lanreotide as a chronically injected somatostatin analog. Median progression-free survival (PFS) on somatostatin analogs was 21.0 (IQR = 29.0) months. Directly after the last course of RLT, disease stabilization was noted in 69.46% of patients, partial regression was noted in 20.36% of patients, complete regression was noted in 0.60% of patients, and progression was noted in 9.58% of patients. In long-term follow-up, the median observation time among patients who underwent four treatment cycles (n = 108) was 29.8 (IQR = 23.9) months. Stabilization of the disease was observed in 55.56% of the patients and progression was observed in 26.85% of the patients, while 17.59% of patients died. Median PFS was 29.3 (IQR 23.9), and the median OS was 34.0 months (IQR 16.0). The mean age of NEN diagnosis is the sixth decade of life. It takes almost three years from NEN diagnosis to the start of RLT. In long-term observation, RLT leads to disease stabilization in over half of the patients with progressive disease. No differences in PFS or OS depend on the radioisotope used for RLT. In Poland, organized coordination of NEN treatment in high-reference centers ensures the continuity of patient care.

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Section: Discussionmentioning

confidence: 99%

Epidemiology of Neuroendocrine Neoplasms and Results of Their Treatment with [177Lu]Lu-DOTA-TATE or [177Lu]Lu-DOTA-TATE and [90Y]Y-DOTA-TATE—A Six-Year Experience in High-Reference Polish Neuroendocrine Neoplasm Center

Durma,

Saracyn,

Kołodziej

et al. 2023

Cancers

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“…Regional lymph node or liver metastases are observed in 30% of cases [ 120 ]. In addition, some rare case reports of nonfunctioning PanNETs, gastrinomas, and insulinomas have also been described in patients with NF1 [ 2 , 121 ]. A case of a 52-year-old female patient with NF1 and the ZES syndrome with a metastatic pancreatic gastrinoma has recently been reported [ 121 ].…”

Section: Neurofibromatosis Type 1 (Nf1)mentioning

confidence: 99%

Hereditary Syndromes Associated with Pancreatic and Lung Neuroendocrine Tumors

Papadopoulou-Marketou,

Tsoli,

Chatzellis

et al. 2024

Cancers

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Pancreatic neuroendocrine tumors (PanNETs) and lung NETs (LNETs) represent a rare but clinically significant subgroup of neoplasms. While the majority is sporadic, approximately 17% of PanNETs and a subset of LNETs develop in the context of monogenic familial tumor syndromes, especially multiple endocrine neoplasia type 1 (MEN1) syndrome. Other inherited syndromes associated with PanNETs include MEN4, von Hippel–Lindau (VHL) syndrome, neurofibromatosis type 1 (NF1), and tuberous sclerosis complex (TSC). These syndromes are highly penetrant and their clinical manifestations may vary even among members of the same family. They are attributed to genetic mutations involving key molecular pathways regulating cell growth, differentiation, and angiogenesis. Pancreatic NETs in hereditary syndromes are often multiple, develop at a younger age compared to sporadic tumors, and are associated with endocrine and nonendocrine tumors derived from multiple organs. Lung NETs are not as common as PanNETs and are mostly encountered in MEN1 syndrome and include typical and atypical lung carcinoids. Early detection of PanNETs and LNETs related to inherited syndromes is crucial, and specific follow-up protocols need to be employed to optimize diagnosis and management. Genetic screening is recommended in childhood, and diagnostic screening starts often in adolescence, even in asymptomatic mutation carriers. Optimal management and therapeutic decisions should be made in the context of a multidisciplinary team in specialized centers, whereas specific biomarkers aiming to identify patients denoted to follow a more aggressive course need to be developed.

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“…NF1-associated sporadic cancers include glioblastoma, neuroblastoma, AML, lung cancer, ovarian cancer, and breast cancer [81]. In the NF1 familial syndrome, patients with neurofibromatosis will present with benign cutaneous neurofibromas and are predisposed to breast, gastric, and pancreatic neuroendocrine tumors [17,82]. Despite the significant importance of NF1 in PNET regulation, there is currently no reported information concerning the DNA methylation of NF1 in the progression of PNETs.…”

Section: Ras-mapk-nf1mentioning

confidence: 99%

Pancreatic Neuroendocrine Tumors: Signaling Pathways and Epigenetic Regulation

Saleh,

Moccia,

Ladd

et al. 2024

IJMS

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Pancreatic neuroendocrine tumors (PNETs) are characterized by dysregulated signaling pathways that are crucial for tumor formation and progression. The efficacy of traditional therapies is limited, particularly in the treatment of PNETs at an advanced stage. Epigenetic alterations profoundly impact the activity of signaling pathways in cancer development, offering potential opportunities for drug development. There is currently a lack of extensive research on epigenetic regulation in PNETs. To fill this gap, we first summarize major signaling events that are involved in PNET development. Then, we discuss the epigenetic regulation of these signaling pathways in the context of both PNETs and commonly occurring—and therefore more extensively studied—malignancies. Finally, we will offer a perspective on the future research direction of the PNET epigenome and its potential applications in patient care.

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Neurofibromatosis Type 1

Cited by 5 publications

References 21 publications

Epidemiology of Neuroendocrine Neoplasms and Results of Their Treatment with [177Lu]Lu-DOTA-TATE or [177Lu]Lu-DOTA-TATE and [90Y]Y-DOTA-TATE—A Six-Year Experience in High-Reference Polish Neuroendocrine Neoplasm Center

Epidemiology of Neuroendocrine Neoplasms and Results of Their Treatment with [177Lu]Lu-DOTA-TATE or [177Lu]Lu-DOTA-TATE and [90Y]Y-DOTA-TATE—A Six-Year Experience in High-Reference Polish Neuroendocrine Neoplasm Center

Hereditary Syndromes Associated with Pancreatic and Lung Neuroendocrine Tumors

Pancreatic Neuroendocrine Tumors: Signaling Pathways and Epigenetic Regulation

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