Pheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B

Abstract

Undiagnosed PHEO can be associated with substantial morbidity. Current American Thyroid Association guidelines recommend PHEO screening starting at age 11 for the high-/highest risk group. The youngest patient diagnosed with PHEO in our cohort was an asymptomatic 10-year-old, suggesting that PHEO development may begin before the screening-recommended age of 11, though remains clinically undetectable and thus the current screening guidelines seem appropriate.

Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study

“…In the present series, the penetrance of phaeochromocytoma was very high: 50% of all patients developed a phaeochromocytoma and half of these were bilateral by age 28. Makri et al recently reported in a series of 7 patients with MEN 2B-associated phaeochromocytoma a 10 year old patient with an asymptomatic phaeochromocytoma 24 . In their series of 68 patients, Raue et al had reported a penetrance of unilateral phaeochromocytoma of 50% by age 31 14 .…”

GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review

“…Largest series on MEN2-related RET pathogenic variants from Germany, France, Italy, United Kingdom, Brazil, Japan, and United States of America Table 1 compares the results of RET pathogenic variants causing MEN2 in the largest published series, originating from Germany (n = 533) (9,26,29,36,38,39), France (n = 437) (39,40,41), Italy (n = 237) (17,31,32,42), United Kingdom (UK) (n = 110) (43), Brazil (n = 554) (44), United States of America (USA) (n = 403) (45,46,47,48,49,50,51,52), and Japan (n = 390) (53,54,55,56,57).…”

“…As mentioned, differently from France, Germany, Italy, UK, Brazil, and Japan where the results of RET variants were consolidated by national studies, the results of RET variants from USA represent our compilation of published reports (45,46,47,48,49,50,51,52,74) (Table 1). Actually, patients from USA with MEN2 have been included in the International RET Mutation Consortium since the first studies on RET genotyping (7).…”

“…In our compilation, we have included the following studies: the first publications on RET variants in American patients reporting the outcome of thyroidectomy from MD Anderson Cancer Center (47); the series of 50 MEN2A patients with variants at codons 634 (38%), 620 (32%), 618 (22%), 609 (6%), and 611 (2%) from Duke University (48); a large series including 262 MEN2A patients from the MD Anderson Cancer Center, showing variants at codon 634 (52%), codon 609 (14%), codon 618 (12%), codon 620 (8%), p.Val804Met (6%), codon 891 (4%), and codon 611 (3%) (49). We have also included a small series of 29 patients with medullary microcarcinoma and C-cell hyperplasia from the Massachusetts General Hospital showing a higher prevalence of p.Val804Met (48%) (50) and a series of 38 children and adolescents from NIH presenting MEN 2B caused by the variant p.Met918Thr (46).…”

MEN2B syndrome – paediatric case report

“…Despite the decreased postoperative MTC marker, the patient requires lifelong endocrinological care and oncological vigilance because thyroid cancer is usually the initial endocrinological manifestation of the syndrome, prognosticating pheochromocytoma, which develops in about 50% of MEN2B patients at an older age [20,28]. Due to slightly elevated methoxyadrenaline concentration in 24-hour urine sample, widened diagnostics of pheochromocytoma should be performed [29].…”