Abstract
Multiple endocrine neoplasia type 2B (MEN2B) is a very rare neuroendocrine autosomal dominant hereditary cancer syndrome linked to several endocrine tumors and multiple extra-endocrine features, many of which can be quite disabling. MEN2B has atypical clinical symptoms in the early stage.
Medullary thyroid carcinoma (MTC), however, tends to be particularly aggressive in MEN 2B and often appears in very young children durting the first years of life, invariably with a backgroung of C-cell hyperplasia. Our understanding of the clinical spectrum, the underlying genetic causes and the optimal management of patients MEN2B has progressed, but there is still much that needs to be clarified.
The aim of this article is to report two Czech children and families with a delayed diagnosis of MEN2B and to point out both the basic and clinical aspects of MEN2B including the new clinical manifestations that would help clinicians to personalize disease management of such patients. However, as the majority of mutations (RET gene) are de novo, it is crucial to recognize children harbouring de novo RET proto-oncogene mutations that cause MEN 2B.
Improved knowledge of the nonendocrine signs, genotype-phenotype correlations and genetic counseling would help to lower the age of diagnosis and improve long-term outcomes. If affected children are identified before the development of advanced malignant disease, surgical cure is possible.
Affected patients should have total thyroidectomy as soon as the diagnosis is established. According to genetic diagnosis, RET mutation analysis can provide early diagnosis and treatment of such a rare syndrome as MEN 2B.
The impact on clinical course and outcome should also be determined. Future studies are needed to characterize the main characteristics and outcomes of MEN2B in pediatric population, given the rarity of this condition.