scholarly journals Multiple Endocrine Neoplasia Type 1 (MEN1) and the Pancreas - Diagnosis and Treatment of Functioning and Non-Functioning Pancreatic and Duodenal Neuroendocrine Neoplasia within the MEN1 Syndrome – An International Consensus Statement

2020 ◽  
Author(s):  
Bruno Niederle ◽  
Andreas Selberherr ◽  
Detlef Bartsch ◽  
Maria Luisa Brandi ◽  
Gerard M. Doherty ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Consensus Statement ◽  
Multiple Endocrine Neoplasia Type ◽  
Diagnosis And Treatment ◽  
International Consensus ◽  
Men1 Syndrome ◽  
Neuroendocrine Neoplasia ◽  
Endocrine Neoplasia ◽  
International Consensus Statement

scholarly journals A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 and recurrent fibromyxoid sarcoma – a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Maja Radman ◽  
Tanja Milicevic
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Novel Mutation ◽  
Low Grade ◽  
Endocrine Tumors ◽  
Men1 Syndrome ◽  
Endocrine Neoplasia ◽  
Fibromyxoid Sarcoma

Abstract Background Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mutations have not been identified in patients with fibromyxoid sarcoma, so far. Case presentation We present a patient with a long-year endocrine follow-up due to multiple endocrine tumors. During his lifespan, he has been surgically treated for pancreatic gastrinoma, parathyroid hyperplasia, atypical pulmonary carcinoid, various benign mesenchymal, and several skin tumors (basocellular tumor, lipomas, and fibromas) which raised a high clinical suspicion of MEN1 syndrome but the patient refused genetic testing. Recently, he developed a novel malignant tumor – recurrent low-grade fibromyxoid sarcoma of the trunk and extremities with multiple subsequent operations. The patient eventually accepted the genetic testing which proved him to be a carrier of a novel mutation in the MEN1 gene. Conclusions Unlike some other syndromes where a genetic mutation can predict clinical course, there is no genotype-phenotype correlation in MEN1 syndrome. Therefore, these patients require lifelong and multidisciplinary surveillance, not only for typical endocrine and benign non-endocrine tumors but also for diverse and even more malignant forms. The atypical clinical presentation should pose suspicion about new gene mutation and serve as a warning in the further follow-up.

scholarly journals Genetic confirmation that ependymoma can arise as part of multiple endocrine neoplasia type 1 (MEN1) syndrome

2017 ◽  
Vol 133 (4) ◽  
pp. 661-663 ◽  
Author(s):  
Areli K. Cuevas-Ocampo ◽  
Andrew W. Bollen ◽  
Benjamin Goode ◽  
Kristian W. Pajtler ◽  
Lukas Chavez ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Men1 Syndrome ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals Challenges in diagnosing and treating pancreatic neuroendocrine tumours in patients with a multiple endocrine neoplasia type 1 (MEN1) syndrome

Oncoreview ◽  
2018 ◽  
Vol 8 (1) ◽  
pp. 42-47
Author(s):  
Natalia Rogozik ◽  
Agnieszka Kolasińska-Ćwikła ◽  
Jarosław B. Ćwikła ◽  
Andrzej Cichocki ◽  
Adam Przybyłkowski ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Neuroendocrine Tumours ◽  
Multiple Endocrine Neoplasia Type ◽  
Men1 Syndrome ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Pancreatic Neuroendocrine Tumours
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