Table 9. Phenotypes identified using Jongmans’/MIPOGG criteria.
| Cancer diagnosis | Non-cancer diagnosis | Phenotypic finding | Genetic findings |
| Diffuse intrinsic pontine glioma | Autism spectrum disorder | developmental delay, speech delay, learning difficulties | Klinefelter syndrome |
| Neuroblastoma | Autism spectrum disorder | developmental delay, learning difficulties | – |
| Acute myeloid leukemia | Autism spectrum disorder | developmental delay (does not speak until age four), learning difficulties, strabismus | – |
| Glioblastoma | Autism spectrum disorder | developmental delay (speech delay), learning difficulties | – |
| Acute myeloid leukemia: monozygotic twin of patient below | Down syndrome | intellectual disability, epicanthus, strabismus, developmental delay, single palmar crease | 47,XY,+21 |
| Acute myeloid leukemia: monozygotic twin of patient above | Down syndrome | intellectual disability, epicanthus, strabismus, developmental delay, single palmar crease | 47,XY,+21 |
| Hodgkin lymphoma | Down syndrome | intellectual disability, epicanthus, strabismus, developmental delay, single palmar crease | 47,XX,+21 |
| Precursor B-cell acute lymphoblastic leukemia | Down syndrome | intellectual disability, epicanthus, strabismus, flat-footed, hearing deficit | 47,XX,+21 POLH, c.1600_1610delCA, p.(Gln534Glufs*11) |
| Acute myeloid leukemia | Neurofibromatosis type 1 | multiple café-au-lait spots | NF1, c.288+1delG, p.(?) |
| Neurofibroma | Neurofibromatosis type 1 | multiple café-au-lait spots |
NF1, c.5242C>T, p.(Arg1748*) XPC, c.1934delC, p.(Pro645Leufs*5) |
| Malignant peripheral nerve sheath tumor | Neurofibromatosis type 1 | multiple café-au-lait spots hearing deficits left ear |
NF1, c.61-22171_4110+2458del (deletion of exon 2–30), p.(Leu21_Gln1370del) PALB2, c.2736G>A, p.(Trp912*) |
| Pilocytic astrocytoma | Neurofibromatosis type 1 | multiple café-au-lait spots near-sightedness | NF1, c.2033dupC, p.(Ile679Aspfs21) |
| Subependymal giant cell astrocytoma | Tuberous sclerosis | intellectual disability, hypomelanotic macules, seizures | TSC2, c.4141dupC, p.(Leu1382Profs*32) |
| T-cell acute lymphoblastic leukemia | Goldenhar syndrome, craniofacial microsomia | mild phenotype with skintags in front of both ears, lack of iris coloring in part of the right eye |
EFL1, c.2430_2431delCC, p.(Leu811Asnfs*10) (no genes are known to cause Goldenhar syndrome) |
| Hodgkin lymphoma | Behcet’s disease | frequent mucocutaneous ulcerations, hyperpigmentation of the lower back | – (tissue type: HLA-B7) |
| Precursor B-cell acute lymphoblastic leukemia | Suspicion of Charcot–Marie–Tooth, but no definite molecular genetic diagnosis | strabismus, delayed motor development, hypotonia, hyperpigmentation of the head and legs, severe vincristine toxicity. Mother has a form of skeletal dysplasia with short fingers and arms, extensions defect in the elbow joint, flat feet |
SH3TC2, c.279G>A (AR) KIF1B, c.3401CT, p.(Pro1134Leu) (VUS, parental testing planned) |
| Wilms tumor | Beckwith–Wiedemann syndrome | epicanthus, down slanting palpebrae, hypertelorism, macroglossia, overgrowth | Paternal uniparental disomy of chromosome 11, corresponding to Beckwith–Wiedemann syndrome phenotype |
| Plasmacytoid dendritic cell leukemia | Novel childhood predisposition syndrome associated with leukemia and intellectual disability | macroglossia, poor mouth motor skills, small milk teeth, deformed fingers and toes, hypotonia |
DDX41, c.962C>T, p.(Pro321Leu) DDX41, c.937G>C, p.(Gly313Arg) NBN, c.156_157delTT, p.(Ser53Cysfs*8) |
| T-cell acute lymphoblastic leukemia | No genetic diagnosis | deeply set eyes, hypertelorism, large café-au-lait spots, right leg | – |
| Hodgkin lymphoma | No genetic diagnosis | severe speech delay–speech not understandable age 5 years, macrocephaly | – |
– No relevant genetic variants.