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Qap
(Anatomical Pathology) |
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Case: AP244
Contributor's Comment: Comment: assess the family history of cancer and check for germline p53
mutation if indicated.
The distinction between adrenocortical adenoma and carcinoma is difficult
and may even be more problematic in pediatric adrenocortical neoplasm. Based
on conventional criteria, the index case is more consistent with
adrenocortical carcinoma. More significantly, when one encounter an
pediatric adrenocortical carcinoma, especially for those less than 4 years
old, there is a high chance of germline p53 mutation. The prevalence of the
germline p53 mutation is estimated ~ 50% and may or may not be related to
the classical Li-Fraumeni Syndrome. Thus family history and investigate for
the germline p53 mutation have important counseling and management
implications. The current index case only has a weak family history of
cancer and germline p53 gene mutation is confirmed.