Table 1.
Clinical Data of the Individuals with DLST Mutations
| ID | Tumors Analyzed | Gender | Age (Years) | Tumors | Other Tumors | Biochemical Phenotype | Behavior | cDNA Variant | Protein Change | PredictSNP | LOH | DLST IHC |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #1 | #1 | m | 45 | PCC | – | NM | Mg | c.692G>A | p.Arg231Gln | deleterious | no | + |
| #2 | – | f | 63 | H&N (n = 2) | – | NS | Bg | c.910G>A | p.Asp304Asn | neutral | NA | NA |
| #3 | #3A, B, and C | f | 27 | TAP (n = 7) | uterine endometrioid carcinoma | NM | Bg | c.1121G>A | p.Gly374Glu | deleterious | yes (UPD) | +++ |
| #4 | #4 | m | 38 | TAP (n = 3) | – | NM | Bg | c.1121G>A | p.Gly374Glu | deleterious | yes (UPD) | +++ |
| #5 | #5A and B | f | 24 | TAP and PCC | – | NM | Bg | c.1121G>A | p.Gly374Glu | deleterious | yes (UPD) | NA |
| #6a | – | m | 29 | TAP (n = 4) | – | NM | Bg | c.1121G>A | p.Gly374Glu | deleterious | NA | NA |
| #7 | – | m | 29 | TAP (n = 3) | – | NM | Bg | c.1265A>G | p.Tyr422Cys | deleterious | NA | NA |
| #8 | #8 | m | 54 | PCC (n = 2) | pituitary adenoma (PRL) | NM | Bg | c.1060-3T>A | – | – | no | +++ |
Abbreviations are as follows: Bg = benign; f = female; H&N = head and neck pheochromocytomas and paragangliomas (PGLs); IHC = immunohistochemistry; LOH = loss of heterozygosity; m = male; Mg = malignant; MTC = medullary thyroid carcinoma; NA = not available; NM = normetanephrine; NS = non-secretory; PCC = pheochromocytoma; PRL = prolactinoma; TAP = thoracic-abdominal-pelvic PGL; UPD = uniparental disomy; + = weak immunostaining; +++ = strong immunostaining. a indicates an individual studied by exome sequencing. DLST cDNA mutations are numbered according to human cDNA reference sequence GenBank: NM_001933.