9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient

Kieny, Alice; Kremer, Valérie; Scheidecker, Sophie; Lipsker, Dan

doi:10.2340/00015555-2822

Cited by 3 publications

(1 citation statement)

References 13 publications

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“…Up to 13% of BCNS cases have deletions of at least one exon (Evans et al, 2017) and a small proportion of these have larger deletions of chromosome 9 encompassing PTCH1 as well as additional material. The longest reported such deletion to date is 20.5 mb while the shortest is 0.35 mb (Boonen et al, 2005; Brickler et al, 2014; Cajaiba et al, 2006; Cayrol et al, 2019; Garavelli et al, 2013; Isidor et al, 2013; Kieny et al, 2018; Muller et al, 2012; Redon et al, 2006; Reichert et al, 2015; Shimojima et al, 2009; Yamada et al, 2020). As with other microdeletion syndromes (Schmickel, 1986; Weise et al, 2012), most patients with 9q22.3 deletion have multiple signs and symptoms in addition to the manifestations of BCNS.…”

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confidence: 99%

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype

Ewing

Cheetham

McGill

et al. 2021

American J of Med Genetics Pt A

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Basal cell nevus syndrome (also known as Gorlin Syndrome; MIM109400) is an autosomal dominant disorder characterized by recurrent pathological features such as basal cell carcinomas and odontogenic keratocysts as well as skeletal abnormalities. Most affected individuals have point mutations or small insertions or deletions within the PTCH1 gene on human chromosome 9, but there are some cases with more extensive deletion of the region, usually including the neighboring FANCC and/or ERCC6L2 genes. We report a 16‐year‐old patient with a deletion of approximately 400,000 bases which removes only PTCH1 and some non‐coding RNA genes but leaves FANCC and ERCC6L2 intact. In spite of the small amount of DNA for which he is haploid, his phenotype is more extreme than many individuals with longer deletions in the region. This includes early presentation with a large number of basal cell nevi and other skin lesions, multiple jaw keratocysts, and macrosomia. We found that the deletion was in the paternal chromosome, in common with other macrosomia cases. Using public databases, we have examined possible interactions between sequences within and outside the deletion and speculate that a regulatory relationship exists with flanking genes, which is unbalanced by the deletion, resulting in abnormal activation or repression of the target genes and hence the severity of the phenotype.

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Section: Introductionmentioning

confidence: 99%

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype

Ewing

Cheetham

McGill

et al. 2021

American J of Med Genetics Pt A

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Vismodegib

2018

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Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature

Cayrol

Nightingale²,

Challis

et al. 2019

Journal of Pediatric Hematology/Oncology

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Background: The 9q22.3 syndrome is an autosomal dominant microdeletion syndrome with similarities to Gorlin syndrome (GS). It encompasses the PTCH1 gene locus that harbors mutations for GS. Although the 9q22.3 syndrome is associated with Wilms tumor (WT), WT is not a GS-associated tumor, implying a different mechanism involving PTCH1, or a different locus in the 9q22.3 region. The goal of this study is to report the association between WT and 9q22.3 syndrome and review the outcome of treatment. Observations: We report 2 new cases of WT with 9q22.3 deletion and review the literature. Among the 44 described patients with 9q22.3 deletion, 7 developed WT (16%) at a mean age of 45 months (range, 4 to 84 mo). All patients had dysmorphic features, macrocephaly, and developmental delay, and there was an association with overgrowth (4/7). One patient had bilateral WT, another had a synchronous rhabdomyosarcoma. The outcome was excellent with all cases reported to be in complete remission. Conclusions: The 9q22.3 microdeletion syndrome should be considered at diagnosis of WT in children with dysmorphic features. Conversely, patients with a known 9q22.3 deletion syndrome should be considered for a WT predisposition surveillance program, especially those with overgrowth. The management should be individualized and given the excellent prognosis, and the unknown future risk of metachronous disease or other malignancy, the surgical approach should be carefully considered.

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9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient

Abstract: Fig. 1. Maculopapular eruption 15 days after the beginning of vismodegib.

Cited by 3 publications

References 13 publications

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype

Vismodegib

Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature

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