scholarly journals Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series

Endocrine ◽  
2021 ◽  
Author(s):  
Medard F. M. van den Broek ◽  
Ester B. G. Rijks ◽  
Peter G. J. Nikkels ◽  
Victorien M. Wolters ◽  
Robert J. J. van Es ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Thyroid Surgery ◽  
Multiple Endocrine Neoplasia ◽  
Early Recognition ◽  
Case Series ◽  
Timely Diagnosis ◽  
Endocrine Neoplasia ◽  
Gi Symptoms ◽  
Intestinal Ganglioneuromatosis ◽  
Endocrine Features

Abstract Background Medullary thyroid carcinoma (MTC) in childhood is rare and has an unfavorable prognosis. To improve outcome, early diagnosis is essential. In patients with multiple endocrine neoplasia type 2B (MEN2B), MTC can occur already before the age of 1 year. Recognition of non-endocrine features of MEN2B may lead to timely diagnosis. Purpose To describe how early recognition of non-endocrine features can lead to a timely diagnosis of MEN2B as well as the effect of recognition of premonitory symptoms on prognosis. Methods A retrospective case series from the University Medical Center Utrecht/Wilhelmina Children’s Hospital, a Dutch national expertise center for MEN patients. All eight MEN2B patients in follow-up between 1976 and 2020 were included and medical records reviewed. Results Intestinal ganglioneuromatosis (IGN) as the cause of gastrointestinal (GI) symptoms was detected in seven patients. In three of them within months after birth. This led to early diagnosis of MEN2B, which allowed subsequent curative thyroid surgery. On the contrary, a MEN2B diagnosis later in childhood—in three patients (also) triggered by oral neuromas/neurofibromas—led to recurrent, persistent, and/or progressive MTC in five patients. Conclusions Neonatal GI manifestations offer the most important window of opportunity for early detection of MEN2B. By accurate evaluation of rectal biopsies in patients with early onset severe constipation, IGN can be timely detected, while ruling out Hirschsprung’s disease. MEN2B gene analysis should follow detection of IGN and—when confirmed—should prompt possibly still curative thyroid surgery.

Multiple endocrine neoplasia: A case series of 7 families

2020 ◽  
Author(s):  
Vitória Duarte ◽  
Catarina Ivo ◽  
David Veríssimo ◽  
Mafalda Marcelino ◽  
Luiz Henrique Vara ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Case Series ◽  
Endocrine Neoplasia

scholarly journals Active Surveillance in RET Gene Carriers Belonging to Families with Multiple Endocrine Neoplasia

Cancers ◽  
2021 ◽  
Vol 13 (21) ◽  
pp. 5554
Author(s):  
Alessandro Prete ◽  
Antonio Matrone ◽  
Carla Gambale ◽  
Valeria Bottici ◽  
Virginia Cappagli ◽  
...  
Keyword(s):  
Active Surveillance ◽  
Thyroid Surgery ◽  
Multiple Endocrine Neoplasia ◽  
Ret Gene ◽  
Ret Mutation ◽  
Gene Carriers ◽  
Endocrine Neoplasia ◽  
Group A ◽  
Group B

Multiple Endocrine Neoplasia 2 (MEN2) is a hereditary cancer syndrome for developing medullary thyroid cancer (MTC) due to germline mutations of RET gene. Subjects harboring a germline RET mutation without any clinical signs of MTC are defined as gene carriers (GCs), for whom guidelines propose a prophylactic thyroid surgery. We evaluate if active surveillance of GCs, pursuing early thyroid surgery, can be safely proposed and if it allows safely delaying thyroid surgery in children until adolescence/adulthood. We prospectively followed 189 GCs with moderate or high risk germline RET mutation. Surgery was planned in case of: elevated basal calcitonin (bCT) and/or stimulated CT (sCT); surgery preference of subjects (or parents, if subject less than 18 years old); other reasons for thyroid surgery. Accordingly, at RET screening, we sub-grouped GCs in subjects who promptly were submitted to thyroid surgery (Group A, n = 67) and who were not (Group B, n = 122). Group B was further sub-grouped in subjects who were submitted to surgery during their active surveillance (Group B1, n = 22) and who are still in follow-up (Group B2, n = 100). Group A subjects presented significantly more advanced age, bCT and sCT compared to Group B. Mutation RETV804M was the most common variant in both groups but it was significantly less frequent in Group A than B. Analyzing age, bCT, sCT and genetic landscape, Group B1 subjects differed from Group B2 only for sCT at last evaluation. Group A subjects presented more frequently MTC foci than Group B1. Moreover, Group A MTCs presented more aggressive features (size, T and N) than Group B1. Accordingly, at the end of follow-up, all Group B1 subjects presented clinical remission, while 6 and 12 Group A MTC patients had structural and biochemical persistent disease, respectively. Thank to active surveillance, only 13/63 subjects younger than 18 years at RET screening have been operated on during childhood and/or adolescence. In Group B1, three patients, while actively surveilled, had the possibility to reach the age of 18 (or older) and two patients the age of 15, before being submitted to thyroid surgery. In Group B2, 12 patients become older than 18 years and 17 older than 15 years. In conclusion, we demonstrated that an active surveillance pursuing an early thyroid surgery could be safely recommended in GCs. This patient-centered approach permits postponing thyroid surgery in children until their adolescence/adulthood. At the same time, we confirmed that genetic screening allows finding hidden MTC cases that otherwise would be diagnosed much later.

scholarly journals Una patología muy infrecuente: ganglioneuromatosis intestinal. Reporte de un caso

2020 ◽  
Vol 50 (2) ◽  
Author(s):  
Marcos Leites ◽  
Alejandra Arriola ◽  
Yéssica Pontét ◽  
Iván Trochansky ◽  
Marta Otero ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Clinical Manifestations ◽  
Syndrome Type ◽  
Nerve Fibres ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Syndrome ◽  
Partial Colectomy ◽  
Von Recklinghausen ◽  
Intestinal Ganglioneuromatosis

Intestinal ganglioneuromatosis is an unusual pathology, especially in adults. It is associated with multiple endocrine neoplasia type IIb and Von Recklinghausen´s neurofibromatosis. Histologically, it is characterized by hyperplasia of the intramural plexuses of the gastrointestinal tract and enteric nerve fibres. Clinical manifestations include abdominal pain, distension and changes in bowel habits. We report the case of a 38-year-old patient, with a multiple endocrine neoplasia syndrome type IIb, presenting with repeated partial or complete intestinal obstruction that requires partial colectomy. Pathology of the resected colon revealed intestinal ganglioneuromatosis.

Disseminated Medullary Thyroid Carcinoma Despite Early Thyroid Surgery in the Multiple Endocrine Neoplasia-2A Syndrome

Thyroid ◽  
2005 ◽  
Vol 15 (5) ◽  
pp. 485-488 ◽  
Author(s):  
H.M. van Santen ◽  
D.C. Aronson ◽  
A.S.P. van Trotsenburg ◽  
F.J.W. ten Kate ◽  
M.D. van de Wetering ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Thyroid Surgery ◽  
Multiple Endocrine Neoplasia ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia 2A

The thyroid

2019 ◽  
pp. 293-305
Author(s):  
Rogan Corbridge ◽  
Nicholas Steventon
Keyword(s):  
Thyroid Gland ◽  
Thyroid Surgery ◽  
Multiple Endocrine Neoplasia ◽  
Thyroid Disorders ◽  
Endocrine Neoplasia

This chapter describes the embryology and anatomy of the thyroid gland. Investigation and treatment of thyroid disorders, including neoplastic conditions, are outlined. Multiple endocrine neoplasia (MEN) syndromes and their features are tabulated. Risks and complications of thyroid surgery are discussed.

scholarly journals The Early Diagnosis of Medullary Carcinoma of the Thyroid Gland in Patients with Multiple Endocrine Neoplasia Type II

1975 ◽  
Vol 182 (4) ◽  
pp. 362-370 ◽  
Author(s):  
SAMUEL A. WELLS ◽  
DAVID A. CONTJES ◽  
CARY W. COOPER ◽  
JOHN F. HENNESSY ◽  
GEORGE J. ELLIS ◽  
...  
Keyword(s):  
Thyroid Gland ◽  
Early Diagnosis ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Medullary Carcinoma ◽  
Type Ii ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type
Sign in / Sign up

Export Citation Format

Share Document