Table 1.
Clinicopathologic features of included cases and associated calculated paired‐like homeobox 2b (PHOX2B) percent positivity
| No. | Age | Gender | Location | Integrated diagnosis | Pertinent histologic/molecular results | Positivity percentage | |
|---|---|---|---|---|---|---|---|
| Overall | Hot spot | ||||||
| 1 | 2Y | F | Brainstem | ETMR, C19MC‐altered | CMA: gain of chromosome 2 gain of 19q13.42 (C19MC) | 0.6481 | 4.18 |
| 2 | 3Y | F | Parietal lobe | ETMR, NOS | LIN28 immunostain | 0.0374 | N/A |
| 3 | 9W | F | Posterior fossa | ETMR, C19MC‐altered | CMA: gain of chromosome 2 gain of 19q13.42 (C19MC) | 0.0473 | N/A |
| 4 | 18mo | F | Cerebellopontine angle | ETMR, C19MC‐altered | CMA: gain of chromosome 2 amplification of 19q13.42 (C19MC) | 3.265 | 38.53 |
| 5 | 14mo | F | Brainstem | ETMR, C19MC‐altered | CMA: gain of chromosome 2 amplification of 19q13.42 (C19MC) | 0.461 | 3.734 |
| 6 | 2Y | F | Frontal lobe | ETMR, NOS | LIN28 immunostain | 0.7755 | 16.4 |
| 7 | 3Y | M | Frontal lobe | ETMR, C19MC‐altered | CMA: gain of chromosome 2 gain of 19q13.42 (C19MC) | 4.939 | 39.01 |
| 8 | 4mo | M | Lateral ventricle | CNS embryonal tumor NEC (HGNET with PLAGL2 amplification) | CMA: PLAGL2 amp, MP‐CS: 0.999 | 0.085 | 0.5272 |
| 9 | 8Y | F | Temporal lobe | Diffuse pediatric‐type high‐grade glioma, MYCN amplified | CMA: EGFR, MDM4, and MYCN amplifications | 0.0235 | N/A |
| 10 | 10Y | F | Frontal lobe | CNS NB, FOXR2 activated | CMA: 1q gain and 16q loss, MP‐CS: 0.991 | 0.015 | N/A |
| 11 | 17mo | F | Parietal lobe | CNS NB, FOXR2 activated | CMA: 1q gain and 16q loss, MP‐CS: 0.999 | 0.0066 | N/A |
| 12 | 3Y | F | Frontal lobe | CNS NB, FOXR2 activated | MP‐CS: 0.998 | 0.0227 | N/A |
| 13 | 7Y | M | Temporal lobe | CNS embryonal tumor NEC (methylation class CNS CIC‐rearranged sarcoma) | MP‐CS: 0.989 | 0.0373 | N/A |
| 14 | 4Y | M | Temporal lobe | CNS tumor with BCOR internal tandem duplication | BCOR ITD by fragment analysis | 0.0314 | N/A |
| 15 | 16Y | F | Parieto‐occipital region | Astroblastoma, MN1‐altered | CMA: segmental copy number loss (deletion) at 22q11.23 to q12.1 and Xp22.33 to p22.13, consistent with MN1::BEND2 fusion, MP‐CS: 0.996 | 0.0098 | N/A |
| 16 | 16Y | M | Frontal lobe | Diffuse hemispheric glioma, H3 G34‐mutant | H3‐3A G34 mutant | 0.0122 | N/A |
| 17 | 14Y | M | Fronto‐parietal region | Diffuse hemispheric glioma, H3 G34‐mutant | H3‐3A G34 mutant | 0.0331 | N/A |
| 18 | 17mo | M | Posterior fossa | ATRT | INI1 negative | 0.0027 | N/A |
| 19 | 18mo | M | Parietal lobe | ATRT | INI1 negative | 0.0048 | N/A |
| 20 | 2Y | M | Pineal region | ATRT | INI1 negative | 0.019 | N/A |
| 21 | 3Y | F | Frontal lobe | ATRT | INI1 negative | 0.0298 | N/A |
| 22 | 2Y | F | Pineal region | ATRT | INI1 negative | 0.004 | N/A |
| 23 | 4Y | F | Posterior fossa | MB, Group 3 | MP‐CS: 0.999 | 0.003 | N/A |
| 24 | 7Y | F | Posterior fossa | MB, Group 4 | MP‐CS: 0.971 | 0.009 | N/A |
| 25 | 17Y | M | Posterior fossa | MB, SHHA | MP‐CS: 0.987 | 0.0099 | N/A |
| 26 | 15mo | M | Posterior fossa | MB, SHHB | MP‐CS: 0.983 | 0.0292 | N/A |
| 27 | 6Y | M | Posterior fossa | MB, WNT | MP‐CS: 0.999 | 0.0304 | N/A |
| 28 | 10Y | F | Posterior fossa | MB, WNT | MP‐CS: 0.999 | 0.0136 | N/A |
| 29 | 2mo | M | Right abdomen | NB, poorly diff | OncoKids negative | 45.9 | 90.58 |
| 30 | 20Y | F | Left paraspinal | NB, residual/recurrent | None | 10.41 | 94.51 |
| 31 | 14mo | F | Right adrenal | NB, post‐treatment | None | 1.819 | 38.48 |
| 32 | 5Y | M | Right adrenal | GNB, poorly diff | None | 77.43 | 99.11 |
| 33 | 15mo | M | Abdomen | NB, poorly diff | None | 31.9 | 12.51 |
| 34 | 4Y | M | Right adrenal | GNB, intermixed | None | 2.455 | 96.51 |
| 35 | 11mo | M | Abdomen | NB, poorly diff | OncoKids negative | 68.95 | 97.08 |
| 36 | 3mo | F | Paraspinal | NB, post‐treatment | None | 9.429 | 55.77 |
| 37 | 2Y | F | Brain | Metastatic NB | None | 66.06 | 99.22 |
| 38 | 16mo | M | Brain | Metastatic NB | ALK mutation | 33.65 | 89.67 |
| 39 | 3Y | M | Brain | Metastatic NB | ALK mutation, MYCN amp | 7.335 | 85.41 |
| 40 | 20mo | F | Dura | Metastatic NB | MYCN amp | 79.22 | 88.57 |
| 41 | 2Y | F | Skull | Metastatic NB | None | 46.51 | 90.67 |
| 42 | 3Y | F | Skull | Metastatic NB | None | 1.947 | 7.56 |
| 43 | 3Y | M | Brain | Metastatic NB | ALK mutation, MYCN amp | 29.38 | 97.2 |
| 44 | 2Y | M | Brain | Metastatic NB | None | 63.6 | 97.15 |
| 45 | 3Y | F | Pineal region | Pineoblastoma | None | 0.0073 | N/A |
| 46 | 10Y | F | Pineal region | Pineoblastoma | None | 0.0353 | N/A |
| 47 | 11Y | F | Pineal region | Pineoblastoma | None | 0.0376 | N/A |
| 48 | 16Y | M | Pineal region | Pineoblastoma | None | 0.028 | N/A |
| 49 | 3Y | M | Pineal region | Pineoblastoma | None | 0.035 | N/A |
| 50 | 4Y | F | Pineal region | Pineoblastoma | None | 0.0104 | N/A |
| 51 | 8mo | M | Pineal region | Pineoblastoma | None | 0.0148 | N/A |
Note: Cases with less than 0.05% overall positivity were not submitted for hot spot analysis (N/A).
Abbreviations: ALK, anaplastic lymphoma kinase; ATRT, atypical teratoid rhabdoid tumor; BCOR, BCL6 Corepressor; CIC, capicua transcriptional repressor; CMA, chromosomal microarray; CNS, central nervous system; C19MC, chromosome 19 microRNA cluster; EGFR, epidermal growth factor receptor; ETMR, embryonal tumors with multilayered rosettes; F, female; FOXR2, forkhead box R2; GNB, ganglio neuroblastoma; HGNET, high‐grade neuroepithelial tumor; INI1, integrase interactor 1; ITD, internal tandem duplication; M, male; MB, medulloblastoma; mo, months; MP‐CS, methylation profile, calibrated score for diagnosis; NB, neuroblastoma; NEC, not elsewhere classified; NGS, next generation sequencing; NOS, not otherwise specified; PLAGL2, pleomorphic ademona gene like‐2; SHHA, sonic hedgehog protein A; W, weeks; Y, years.