Variants
oncocytic adrenocortical carcinoma
virilizing adrenocortical carcinoma
Immunochemistry
melan-A+ (MLANA+) (9422316)
alpha-inhibin+ (INHA+)
Predisposition
Beckwith-Wiedemann syndrome
germ-line P53 mutations
- Li-Fraumeni syndrome
- inherited R337H p53 mutation without Li-Fraumeni syndrome (11481490)
Carney complex
multiple endocrine neoplasia type 1
congenital adrenal hyperplasia
McCune-Albright syndrome
Associations
ganglioneuroblastoma (P53 germline mutations) (9598730)
Cytogenetics
CGH: 10514385
Molecular biology
> Multistep adrenocortical tumorigenesis (12629075)
TP53 (17p13)
- TP53 mutations (30-50%) (11454518)
- TP53-associated adrenocortical carcinoma
APC mutations
- APC-associated adrenocortical carcinoma
Locus 11p15.5
- LOH at 11p15.5 (28.5%)
- Uniparental disomy at 11p15.5 (24%) (7911125)
- IGF2 overexpression (10843195, 7911125)
- loss of function of p57KIP2 (10634406)
- Structural and functional abnormalities at 11p15 are associated with the malignant phenotype (9253334)
LOH at 11q13: significantly higher in adrenocortical carcinomas (60%) than in benign lesions (11%) (9935177)
high expression of cyclin E and G1 CDK
altered expression of novH (11502835)
allelotype: 9596277
Differential diagnosis
islet cell carcinoma
pulmonary large cell undifferentiated carcinoma
hepatocellular carcinoma (HCC)
renal cell carcinoma
bronchogenic carcinoma
pheochromocytoma and paraganglioma
alveolar soft part sarcoma
CGH
Losses
1p21-31
2q
3p
3q
6q
9p
11q14-qter
Gains and amplifications
5q12
9q34
12q
17q
17p
20q
LOH
1p (22%)
3p (22%)
9p (26%)
References
Stratakis CA. Genetics of adrenocortical tumors: gatekeepers, landscapers and conductors in symphony. Trends Endocrinol Metab. 2003 Nov;14(9):404-10. PMID: 14580759
Reincke M, Beuschlein F, Slawik M, Borm K. Molecular adrenocortical tumourigenesis. Eur J Clin Invest. 2000 Dec;30 Suppl 3:63-8. PMID: 11281372