MAX intragenic deletions occur in patients with pheochromocytoma and pituitary adenoma

What is it about?

MLPA can identify individual exon deletions in the MAX gene in patients with aggressive pheochromocytomas and accompanying pituitary adenomas. This expands the 3P association from SDHx genes to MAX gene deletions.

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Why is it important?

This is an important finding as these cases can be normal on MAX sequencing, but have unsuspected clinically actionable exon deletions. MLPA for MAX should be considered as part of the full screening process for patients with aggressive pheochromocytomas with or without pituitary adenomas. MAX might be a new pituitary adenoma risk gene.