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Most endocrine tumors in children occur in the context of genetic
conditions predisposing to multiple neoplasias: multiple endocrine
neoplasia types 1 and 2 (MEN-1 and MEN-2), Mc-Cune Albright syndrome,
Carney complex, Von Hippel-Lindau (VHL) disease, Peutz-Jeghers syndrome
(PJS), Cowden disease (CD), hereditary hyperparathyroidism and jaw
tumor syndrome (HPJTS), and other extraordinarily rare conditions
such as the isolated paraganglioma and Carney-Stratakis syndromes,
Carney triad, Burt-Hogg-Dubé, and others. Therefore, it
is now essential that the evaluation and management of these patients
involves experts in cancer genetics and includes formal genetic
counseling. Gene testing may be offered but performed in the setting
of a cancer genetic consultation which includes pretest and posttest
counseling. If a family-specific mutation is found, the genetics
consultant can offer mutation-specific predictive testing to relatives.
A list of endocrine neoplasia syndromes and their genetic causes
is provided in Table 537-1. Disease associations
in the multiple endocrine neoplasia syndromes are shown in Table 537-2. In this chapter we will discuss
only the MEN conditions and the related Carney complex. Pheochromocytoma
is also discussed as an endocrine tumor common in a number of endocrine
neoplasia syndromes.
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