Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0020538 (
hypertension
)
170,190
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Background:
MYC associated factor X
(
MAX
) is a tumor suppressor gene and has been identified as one of the pathogenic genes of hereditary pheochromocytoma (PCC). To date, there have been no reports of ganglioneuroma (GN) with
MAX
variants.
Case Presentation:
The proband was a 45-years-old Chinese female with paroxysmal
hypertension
and palpitations who had undergone adrenalectomy for PCC 14 years ago. Her plasma free normetanephrine and 24-h urinary norepinephrine excretion were significantly increased, and abdominal computed tomography (CT) revealed an irregular mass in the left adrenal region, suggesting a recurrence of PCC. The mass was surgically removed and pathologically diagnosed as PCC with lymph node metastasis. The proband's son suffered from paroxysmal
hypertension
and palpitations. His plasma free metanephrine levels were normal. CT revealed a mass in the right adrenal. The tumor was surgically removed, and the pathological diagnosis was GN. Genetic testing of peripheral blood DNA revealed that the proband and her son had germline pathogenic
MAX
variant c.C97T, p.Arg33Ter, while proband's parents did not have
MAX
variants. Tumor DNA sequencing showed the same
MAX
variant (c.C97T, p.Arg33Ter) in PCC of the proband and GN of her son, both with retention of heterozygosity. Immunohistochemistry demonstrated loss of
MAX protein
expression in most tumor cells in PCC of the proband and some Schwannian cells in GN of the proband's son.
Conclusion:
We report a family with a new clinical phenotype of germline pathogenic variants in
MAX
who developed both PCC and GN. Germline pathogenic variants in
MAX
may contribute to the development of GN. Our findings suggest that it is not just paternally inherited
MAX
variants that can cause tumors.
...
PMID:A Novel Phenotype of Germline Pathogenic Variants in
MAX
: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review. 3297 81
