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. 2021 Oct 12;13(20):5117. doi: 10.3390/cancers13205117

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.