Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies

Dangoni, Gustavo D.; Teixeira, Anne Caroline B.; da Costa, Silvia S.; Scliar, Marília O.; Carvalho, Laura M. L.; Silva, Luciana N.; Novak, Estela M.; Vince, Carolina S. C.; Maschietto, Mariana C.; Sugayama, Sofia M. M.; Odone-Filho, Vicente; Krepischi, Ana Cristina V.

doi:10.1038/s41390-023-03000-7

Pediatr Res

2024

DOI: 10.1038/s41390-023-03000-7

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Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies

Gustavo D. Dangoni,

Anne Caroline B. Teixeira,

Silvia S. da Costa

et al.

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2024

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Cited by 2 publications

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Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome

Mochizuki,

Nagaraj,

Depoorter

et al. 2024

American J of Med Genetics Pt A

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Gorlin syndrome can be caused by pathogenic/likely pathogenic (P/LP) variants in the tumor suppressor gene PTCH1 (9q22.1‐q31), which encodes the receptor for the sonic hedgehog (SHH) ligand. We present a 12‐month‐old boy clinically diagnosed with Gorlin syndrome who was found to have significantly delayed development, palmar pitting, palmar and plantar keratosis, short hands, frontal bossing, coarse face, hypertelorism, a bifid rib, misaligned and missing teeth, and SHH‐activated medulloblastoma. Genetic testing, including a pediatric cancer panel and genome sequencing with peripheral blood, failed to identify any P/LP variants in PTCH1. Paired tumor/normal exome sequencing was performed, which identified a germline NM_000264.5 (PTCH1): c.361_362ins? alteration through manual review of sequencing reads. Clinical RNA sequencing further demonstrated an Alu insertion at this region (PTCH1: c.361_362insAlu), providing molecular confirmation of Gorlin syndrome. This finding exemplifies a unique mechanism for PTCH1 disruption in the germline and highlights the importance of comprehensive analysis, including manual review of DNA sequencing reads and the utility of RNA analysis to detect variant types which may not be identified by routine genetic screening techniques.

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Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome

Mochizuki,

Nagaraj,

Depoorter

et al. 2024

American J of Med Genetics Pt A

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Pediatric lymphoproliferative disorders associated with inborn errors of immunity

Cheng,

Dávila Saldaña,

Chandrakasan

et al. 2024

Clinical Immunology

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Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies

Cited by 2 publications

References 100 publications

Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome

Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome

Pediatric lymphoproliferative disorders associated with inborn errors of immunity

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