Table 1.
Molecular profiling studies revealing MEN1 alterations in pNETs.
Technique | Reference | Key Findings |
---|---|---|
Exome/genome sequencing |
[24] | Somatic MEN1 mutations in 44.1% of 68 sporadic pNETs. MEN1 mutations correlated with poor patient survival. |
[23] | Somatic MEN1 mutations in 41% of 102 primary pNETs. Abnormal telomere length observed in MEN1-mutated tumors. |
|
[39] | In total, 26% of 57 sporadic well differentiated pNETs had recurrent LOH of 10 specific chromosomes and biallelic MEN1 inactivation. Another 40% had chromosome 11 LOH and biallelic MEN1 inactivation. The first patient group had worse clinical outcomes compared to the second. |
|
[40] | MEN1 mutations in 43% of 65 pNETs. | |
[43] | Somatic MEN1 mutations in 56% of 80 patient pNETs. In total, 1 of 17 patients carried a germline MEN1 mutation. | |
Allelotyping/LOH analysis | [31] | Loss of chromosomal segment 11q (where MEN1 is located) in >60% cases. |
[34] | LOH of 11q13 in 70% and MEN1 mutations in 27% of 11 advanced pNETs (9 NF and 2 glucagonomas). | |
[29] | MEN1 mutatons in 6 (mostly pNETs) of 43 sporadic GEPNETs. | |
[37] | MEN1 allelic deletions in 93% of gastrinomas and 50% of 12 insulinomas; mutations in 33% gastrinomas and 17% insulinomas. | |
Microarray | [35] | Consensus cluster analysis of microarray results showed clustering of 5 out of 9 sporadic NF-pNETs with MEN1-associated familial pNETs. In total, 4 of those 5 sporadic pNETs had MEN1 LOH. |