Table 1.
Description of the 18 Cases with Mutation
Case Number | Age at Surgery (d) | Mutation in Malformed Tissue | Allelic Ratio (%) | Mutation in Surrounding Healthy Tissue | Allelic Ratio (%) | Prenatal Imaging | Birth Weight (kg) | Neonatal Respiratory Distress* | Largest Cyst Diameter on Postnatal CT (mm) | Mucinous Component |
---|---|---|---|---|---|---|---|---|---|---|
1 | 641 | KRAS p.Gly12Asp c.35G>A | 13.2 | KRAS p.Gly12Asp c.35G>A | 15 | Hyperechoic | 2.8 | No | 9 | No |
2 | 1 | KRAS p.Gly12Asp c.35G>A | 13 | KRAS p.Gly12Asp c.35G>A | 4 | Cystic | 3.3 | Yes | 41 | No |
3 | 0 | KRAS p.Gly12Asp c.35G>A | 23 | NA | Cystic | 3.5 | Yes | 45 | Yes | |
4 | 217 | KRAS p.Gly12Asp c.35G>A | 10 | None | — | Cystic | 3.7 | No | 12 | Yes |
5 | 320 | KRAS p.Gly12Val c.35G>T | 4 | NA | Hyperechoic | 3 | Yes | 7 | No | |
6 | 192 | KRAS p.Gly12Asp c.35G>A | 11 | NA | Cystic | 3.5 | No | 33 | No | |
7 | 211 | KRAS p.Gly12Asp c.35G>A | 20 | NA | Cystic | 3.2 | No | 34 | Yes | |
8 | 410 | KRAS p.Gly12Val c.35G>T | 3 | NA | Cystic | 4.1 | No | 11 | No | |
9 | 783 | KRAS p.Gly12Asp c.35G>A | 12 | NA | Cystic | 3.5 | No | 21 | Yes | |
10 | 364 | KRAS p.Gly12Val c.35G>T | 20 | NA | Cystic | 3.4 | Yes | 40 | No | |
11 | 118 | KRAS p.Gly12Asp c.35G>A | 19.4 | None | — | Cystic | 3.1 | No | 17 | No |
12 | 4 | KRAS p.Gly12Asp c.35G>A | 18.7 | KRAS p.Gly12Asp c.35G>A | 0.7 | Cystic | 2.6 | Yes | 20 | Yes |
13 | 13 | KRAS p.Gly12Asp c.35G>A | 33 | KRAS p.Gly12Asp c.35G>A | 9 | Cystic | 3.3 | No | 35 | Yes |
14 | 391 | KRAS p.Gly12Asp c.35G>A | 4.2 | NA | Cystic | 3 | No | 26 | Yes | |
15 | 190 | KRAS p.Gly12Asp c.35G>A | 7.9 | None | — | Cystic | 3.8 | No | 33 | No |
16 | 234 | KRAS p.Gly12Arg | 27 | NA | Cystic | 3.6 | No | 24 | No | |
17 | 2 | KRAS p.Gly12Cys | 17 | NA | Cystic | 2.9 | Yes | 53 | Yes | |
18 | 0 | FGFR2 p.Cys382Arg c.1144T>C | 34 | NA | Hyperechoic | 3.2 | Yes | NA | No |
Definition of abbreviations: CT = computed tomography; NA = not applicable.
Neonatal respiratory distress was defined by having at least one of the following criteria: polypnea > 60/min or signs of retraction; need for oxygen therapy, noninvasive ventilatory support, or invasive ventilatory support; need for surgical congenital pulmonary malformation removal before the age of 7 days (3).