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

Autor(es):Mostrar menos -

Goncalves, Tatiana D. ^{[1, 2]} ; Toledo, Rodrigo A. ^{[1, 2]} ; Sekiya, Tomoko ^{[1, 2]} ; Matuguma, Sergio E. ^[3] ; Maluf Filho, Fauze ^[3] ; Rocha, Manoel S. ^[4] ; Siqueira, Sheila A. C. ^[5] ; Glezer, Andrea ^[1] ; Bronstein, Marcelo D. ^[1] ; Pereira, Maria A. A. ^[1] ; Jureidini, Ricardo ^[6] ; Bacchella, Telesforo ^{[7, 6]} ; Machado, Marcel C. C. ^[7] ; Toledo, Sergio P. A. ^{[1, 2]} ; Lourenco, Jr., Delmar M. ^{[1, 2, 8]}

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Sch Med, Hosp Clin, Div Endocrinol, BR-01246903 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Sch Med, Hosp Clin, Endocrine Genet Unit LIM25, BR-01246903 Sao Paulo - Brazil

^[3] Univ Sao Paulo, Sch Med, Hosp Clin, Endoscopy Div, BR-01246903 Sao Paulo - Brazil

^[4] Univ Sao Paulo, Sch Med, Hosp Clin, Div Radiol, BR-01246903 Sao Paulo - Brazil

^[5] Univ Sao Paulo, Sch Med, Hosp Clin, Div Pathol, BR-01246903 Sao Paulo - Brazil

^[6] Canc Inst Sao Paulo, Div Surg, Dept Gastroenterol, BR-01246000 Sao Paulo - Brazil

^[7] Univ Sao Paulo, Sch Med, Hosp Clin, Div Surg, Dept Gastroenterol, BR-01246903 Sao Paulo - Brazil

^[8] Canc Inst Sao Paulo, Endocrine Oncol Div, BR-01246000 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; v. 99, n. 1, p. E89-E96, JAN 2014.
• Citações Web of Science: 28

Resumo

Context: Data are scarce on the penetrance of multiple endocrine neoplasia type 1 (MEN1)-related nonfunctioning pancreatic neuroendocrine tumors (NF-PETs) and insulinomas in young MEN1 patients. Apotential positive correlation between tumor size and malignancy (2-3 cm, 18%; >3 cm, 43%) has greatly influenced the management of MEN1 adults with NF-PETs. Objective: The aim of the study was to estimate the penetrance of NF-PETs, insulinomas, and gastrinomas in young MEN1 carriers. Design: The data were obtained from a screening program (1996-2012) involving 113 MEN1 patients in a tertiary academic reference center. Patients: Nineteen MEN1 patients (aged 12-20 y; 16 patients aged 15-20 y and 3 patients aged 12-14 y) were screened for NF-PETs, insulinomas, and gastrinomas. Methods: Magnetic resonance imaging/computed tomography and endoscopic ultrasound (EUS) were performed on 10 MEN1 carriers, magnetic resonance imaging/computed tomography was performed on five patients, and four other patients underwent an EUS. Results: The overall penetrance of PETs during the second decade of life was42%(8 of 19). All eight PET patients had NF-PETs, and half of those tumors were multicentric. One-fifth of the screened patients (21%; 4 of 19) harbored at least one large tumor (>2.0 cm). Insulinoma was detected in two NF-PET patients (11%) at the initial screening; gastrinoma was not present in any cases. Six of the 11 (54%) screened patients aged 15-20 years who underwent an EUS had NF-PETs. Potential false-positive EUS results were excluded based on EUS-guided biopsy results, the reproducibility of the NF-PET findings, or the observation of increased tumor size during follow-up. Distal pancreatectomy and the nodule enucleation of pancreatic head tumors were conducted on three patients with large tumors (>2.0 cm; T2N0M0) that were classified as grade 1 neuroendocrine tumors (Ki-67 < 2%). Conclusions: Our data demonstrated high penetrance of NF-PETs in 15- to 20-year-old MEN1 patients. The high percentage of the patients presenting consensus criteria for surgery for NF-PET alone or NF-PET/insulinoma suggests a potential benefit for the periodic surveillance of these tumors in this age group. (AU)

• Processo FAPESP: 09/15386-6 - Análise dos genes CDKN1A, CDKN1B, CDKN2B e CDKN2C, nas neoplasias endócrinas múltiplas tipo 1 e 2.
• Beneficiário: Rodrigo de Almeida Toledo
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado
• Processo FAPESP: 09/11942-1 - Análise do gene CDKN1B/p27kip1 em pacientes com Neoplasia Endócrina Múltipla Tipo 2
• Beneficiário: Tomoko Sekiya
• Modalidade de apoio: Bolsas no Brasil - Doutorado Direto
• Processo FAPESP: 08/58552-0 - Neoplasia endócrina múltipla tipo 1 (NEM1): análises de mutações germinativas nos genes supressores de tumor MEN1, CDKN1B/p27Kip1 e AIP; estudo de expressão gênica e proteica e; caracterização clínica
• Beneficiário: Delmar Muniz Lourenço Jr
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado