Penetrance of Functioning and Nonfunctioning Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 in the Second Decade of Life

Gonçalves, Tatiana; Toledo, Rodrigo A.; Sekiya, Tomoko; Matuguma, Sérgio E.; Filho, Fauze Maluf; Rocha, Manoel de Souza; Siqueira, Sheila Aparecida Coelho; Glezer, Andréa; Bronstein, Marcelo D.; Pereira, Maria Adelaide Albergaria; Jureidini, Ricardo; Bacchella, Telésforo; Machado, Marcel Cerqueira César; Toledo, S. P. A.; Lourenço, Delmar M.

doi:10.1210/jc.2013-1768

Cited by 64 publications

(61 citation statements)

References 25 publications

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“…Data of Gonçalves et al [15] seemed to confirm our evidence on nonfunctioning pNETs, showing a higher penetrance of nonfunctioning pNETs (42%) than insulinomas (11%) in MEN1 patients from age 12 to 20. The higher frequency of nonfunctioning pNET reported by Gonçalves et al [15] with respect to Goudet et al could be partly due to the systematic use of endoscopic ultrasound (EUS) to monitor young MEN1 patients, as EUS is more sensitive than MRI or CT and can reveal pancreatic tumors <1 cm in size in asymptomatic patients.…”

Section: Discussionsupporting

confidence: 82%

“…Consequently, as patients are asymptomatic, imaging screening is fundamental for a timely diagnosis. Literature highlights the high frequency of nonfunctioning pNETs in young patients with MEN1 [15], the uncertainty of their biological behavior, and the need for a careful radiological monitoring of young MEN1 patients [12]. Two clinical cases of young girls with asymptomatic nonfunctioning pNETs with uncertain malignant potential were described by Newey et al [12] (cases 12 and 13, Table 3).…”

Section: Discussionmentioning

confidence: 99%

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MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors

et al. 2017

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Purpose To retrospectively evaluate the age of onset of MEN1-associated lesions in a group of affected children and adolescents and to compare the clinical features of our series with the evidence derived from the literature. Methods The study population consisted of 22 Italian children and adolescents (age 6-31 years at the time of the inclusion in this study) all with a clinical and/or a genetic diagnosis of MEN1 performed before the age of 16 who have been followed-up regularly from 1998 to 2016 at the Regional Referral Center for Hereditary Endocrine Tumors. Clinical, biochemical, imaging and genetic data have been collected for each patient. Results Ten subjects (45.5%) have not yet presented any clinical/biochemical/radiological manifestation of MEN1 disease, whereas 12 patients (54.5%) developed at least one MEN1-associated endocrine manifestation. The second group of patients was significantly older than the first one. The most frequent manifestation was primary hyperparathyroidism (50%), followed by pituitary tumors (prolactinomas) (31.8%) and nonfunctioning pancreatic neuroendocrine tumors (9%). The earliest cases of primary hyperparathyroidism and prolactinoma were a 12-year-old girl and a 13-year-old boy, respectively. Conclusions MEN1 disease seems to present with different features in children and adolescents from those in adults.Our study confirms the fundamental importance of screening for tumors in young MEN1 patients beginning in early childhood, in order to avoid diagnostic and therapeutic delays.

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Section: Discussionsupporting

confidence: 82%

Section: Discussionmentioning

confidence: 99%

MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors

et al. 2017

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“…The age-dependent penetrance for the clinical features rises above 50% by age 20 years and more than 95% by age 40 years (3,4). In a recent study, a high penetrance of nonfunctioning pancreatic neuroendocrine tumors in 15-to 20-year-old MEN1 patients has been demonstrated, suggesting that a periodic surveillance is advised in this group of subjects (5). Approximately one third of deaths in MEN1 patients are caused by the malignant behavior of NETs for which a preventive surgical treatment is not advisable (except for prophylactic thymectomy for thymic carcinoid during parathyroid surgery) (6).…”

Section: Introductionmentioning

confidence: 96%

The LARO-MEN1 study: a longitudinal clinical experience with octreotide Long-Acting Release in patients with Multiple Endocrine Neoplasia type 1 Syndrome

Cioppi

Cianferotti

Masi

et al. 2017

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SummaryMultiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumoral syndrome, featured by a combination of neoplasms of various endocrine and nonendocrine tissues. Approximately 33% of MEN1-related deaths are due to the malignant behaviour of well-differentiated neuroendocrine tumors (NETs), for which a preventive surgical treatment is not feasible. Somatostatin analogues (SSA) have been employed in the treatment of NETs in the stage of advanced or metastatic disease, in order to control the growth and secretion of tumor lesions. A longitudinal, open label study named "LARO-MEN1" was undertaken in order to assess whether early medical treatment with long-acting SSA could act as a preventive approach in small MEN1-related gastroenteropancreatic (GEP) NETs. Thirty consecutive patients affected by MEN1 were screened and 8 patients with small (<2 cm) NETs and abnormal laboratory values of at least one of the GEP hormones were administered octreotide acetate slow-release formulation (LAR) (10 mg i.m. every 28 days). Octreotide LAR was effective in decreasing GEP hormones and overall safe in the majority of patients up to six years of treatment, maintaining the disease stable also in terms of tumor size. The positive outcomes of this study in MEN1 patients reinforce the results obtained in advanced NETs on the use of SSA, opening to the opportunity for preventive use of octreotide LAR, aimed to delay or even avoid surgery in these patients.

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“…According to the current expert practice guidelines, genetic testing is recommended at the age of 5 years (Thakker et al 2012). This recommendation, however, is still a matter of debate, as some experts claim that genetic testing should be postponed until the second decade of life to prevent psychological distress associated with a positive gene test and unnecessary examinations in asymptomatic children (Gonçalves et al 2014, Goroshi et al 2016. This holds especially true, since there is yet no role for prophylactic medical treatment or surgery in asymptomatic young MEN1 patients.…”

Section: Genetic Testingmentioning

confidence: 99%

The future: diagnostic and imaging advances in MEN1 therapeutic approaches and management strategies

Manoharan¹,

Albers²,

Bartsch³

2017

Endocrine-Related Cancer

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Prospective randomized data are lacking, but current clinical expert guidelines recommend annual screening examinations, including laboratory assessments and various imaging modalities (e.g. CT, MRI, scintigraphy and EUS) for patients with multiple endocrine neoplasia type 1 (MEN1). Routine screening is proposed to detect and localize neuroendocrine manifestations as early as possible. The goal is timely intervention to improve quality of life and to increase life expectancy by preventing the development of life-threatening hormonal syndromes and/or metastatic disease. In recent years, some studies compared different and new imaging methods regarding their sensitivity and utility in MEN1 patients. This present article reviews the proposed diagnostic tools for MEN1 screening as well as potential future perspectives.

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Penetrance of Functioning and Nonfunctioning Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 in the Second Decade of Life

Cited by 64 publications

References 25 publications

MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors

MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors

The LARO-MEN1 study: a longitudinal clinical experience with octreotide Long-Acting Release in patients with Multiple Endocrine Neoplasia type 1 Syndrome

The future: diagnostic and imaging advances in MEN1 therapeutic approaches and management strategies

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