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

Broek, Medard F M van den; Rijks, Ester B.G.; Nikkels, Peter G. J.; Wolters, Victorien M.; Santen, Hanneke M van; Nesselrooij, Bernadette P.M. van; Vriens, Menno R.; Leeuwaarde, Rachel S van; Valk, Gerlof D.; Stuart, A. A. Verrijn

doi:10.1007/s12020-021-02607-2

Cited by 8 publications

(3 citation statements)

References 36 publications

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“…Patients >18 years more often presented with advanced disease, which may reflect late diagnosis in non-familiar or not-yet-recognized familiar cases. Genetic syndromes harboring an increased risk for MTC may be difficult to recognize, contributing to the delay in diagnosis of MTC [31].…”

Section: Medullary Thyroid Carcinoma (Mtc)mentioning

confidence: 99%

Opposite Incidence Trends for Differentiated and Medullary Thyroid Cancer in Young Dutch Patients over a 30-Year Time Span

Lebbink

Broek

Kwast

et al. 2021

Cancers

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Thyroid cancer is the most common endocrine malignancy in children. A rising incidence has been reported worldwide. Possible explanations include the increased use of enhanced imaging (leading to incidentalomas) and an increased prevalence of risk factors. We aimed to evaluate the incidence and survival trends of thyroid cancer in Dutch children, adolescents, and young adults (0–24 years) between 1990 and 2019. The age-standardized incidence rates of differentiated thyroid cancer (DTC, including papillary and follicular thyroid cancer (PTC and FTC, respectively)) and medullary thyroid cancer (MTC), the average annual percentage changes (AAPC) in incidence rates, and 10-year overall survival (OS) were calculated based on data obtained from the nationwide cancer registry (Netherlands Cancer Registry). A total of 839 patients aged 0–24 years had been diagnosed with thyroid carcinoma (PTC: 594 (71%), FTC: 128 (15%), MTC: 114 (14%)) between 1990 and 2019. The incidence of PTC increased significantly over time (AAPC +3.6%; 95%CI +2.3 to +4.8), the incidence rate of FTC showed a stable trend ((AAPC −1.1%; 95%CI −3.4 to +1.1), while the incidence of MTC decreased significantly (AAPC: −4.4% (95%CI −7.3 to −1.5). The 10-year OS was 99.5% (1990–1999) and 98.6% (2000–2009) in patients with DTC and 92.4% (1990–1999) and 96.0% (2000–2009) in patients with MTC. In this nationwide study, a rising incidence of PTC and decreasing incidence of MTC were observed. For both groups, in spite of the high proportion of patients with lymph node involvement at diagnosis for DTC and the limited treatment options for MTC, 10-year OS was high.

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Section: Medullary Thyroid Carcinoma (Mtc)mentioning

confidence: 99%

Opposite Incidence Trends for Differentiated and Medullary Thyroid Cancer in Young Dutch Patients over a 30-Year Time Span

Lebbink

Broek

Kwast

et al. 2021

Cancers

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“…All variants of MEN 2 show a high penetrance for MTC [11]. MEN 2B is characterized by MTC and pheochromocytoma, plus decreased upper/lower body ratio, a marfanoid habitus, and the presence of mucosal neuromas and intestinal ganglioneuromatosis [12,13]. In the PubMed database, there are more than 900 articles related to MEN 2B, among which mucosal neuroma and Marfan-like habitus were observed in 99% of MEN 2B patients, 95% had MTC, and 50% of patients had pheochromocytoma [10].…”

Section: Discussionmentioning

confidence: 99%

Ganglioneuromatous polyposis associated with type 2 B multiple endocrine neoplasia (MEN 2B) – case report

Rycyk-Bojarzyńska,

Kasztelan-Szczerbińska,

Cichoż-Lach

et al. 2023

Ann Agric Environ Med.

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Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant hereditary cancer syndrome which is characterized by the appearance of medullary thyroid carcinoma (MTC), pheochromocytoma, parathyroid adenomas, ganglioneuromas of the digestive tract, and musculoskeletal abnormalities. The case is presented of a 31-year-old male patient with numerous polyps in the colon described as ganglioneuromas which are ectodermal neoplasms emerging from a proliferation of ganglionic cells of the sympathetic nervous system. The results show elevated levels of normetanephrine, which is an endogenous catecholamine metabolite, and has high diagnostic sensitivity as well as specificity in pheochromocytoma detection. The patient underwent partial thyreoidectomy due to a nodular goiter. He was admitted to the Department of Gastroenterology to lead a diagnostic pathway towards MEN 2B.

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“… 8 , 9 More specifically, reported signs that should call for alert are intestinal ganglioneuromatosis, mucosal neuromas/neurofibromas, alacrima and a ‘marfanoid’ body habitus. 8 , 9 , 10 …”

Section: Introductionmentioning

confidence: 99%

Children with multiple endocrine neoplasia type 2B: Not tall and marfanoid, but short with normal body proportions

Broek

Santen

Valk

et al. 2021

Clinical Endocrinology

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Objective: Multiple endocrine neoplasia 2B (MEN2B) is characterised by earlyonset medullary thyroid carcinoma (MTC), pheochromocytoma and several nonendocrine manifestations. Unfortunately, MEN2B is often diagnosed late, after the development of clinically significant MTC. Marfanoid habitus is considered an important related feature, which may lead to the assumption that patients with MEN2B have tall stature. Here, we describe the longitudinal growth and body proportions of eight MEN2B patients during childhood. Design: It is a retrospective case series. Methods: Patients were under the care of a Dutch MEN expertise centre. Growth patterns were assessed and interpreted in relation to body mass index (BMI), age at diagnosis and at thyroidectomy, extensiveness of disease manifestations and parental height.Results: Seven patients were short during childhood, of whom four showed growth below target height range (THR) and three at the lowest margin of THR. Only one patient grew well within THR. All patients who attained final height (n = 4) ended within THR, despite short stature during childhood. Arm span/height ratio was not increased and upper segment/lower segment ratio was not reduced in any patient. Short stature in childhood in this study did not seem to be associated with age at diagnosis, age at thyroidectomy, extensiveness of MTC, endocrine deficiencies or BMI. Conclusions:This study shows that children with MEN2B may well present with short rather than tall stature. Thereafter, final height within THR was attained in those who already reached adulthood, but none had tall stature. Finally, body proportions were normal in all children and adults in this case series, not underlining a 'marfanoid' body habitus.

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

Cited by 8 publications

References 36 publications

Opposite Incidence Trends for Differentiated and Medullary Thyroid Cancer in Young Dutch Patients over a 30-Year Time Span

Opposite Incidence Trends for Differentiated and Medullary Thyroid Cancer in Young Dutch Patients over a 30-Year Time Span

Ganglioneuromatous polyposis associated with type 2 B multiple endocrine neoplasia (MEN 2B) – case report

Children with multiple endocrine neoplasia type 2B: Not tall and marfanoid, but short with normal body proportions

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