TY - JOUR
T1 - Wilms tumor in patients with osteopathia striata with cranial sclerosis
AU - Bach, Alicia
AU - Mi, Jingyi
AU - Hunter, Matthew
AU - Halliday, Benjamin J.
AU - García-Miñaúr, Sixto
AU - Sperotto, Francesca
AU - Trevisson, Eva
AU - Markie, David
AU - Morison, Ian M.
AU - Shinawi, Marwan
AU - Willis, Daniel N.
AU - Robertson, Stephen P.
N1 - Funding Information:
Acknowledgements We thank the individuals and their families described in this report. SPR is supported by Curekids. ET is supported by Istituto di Ricerca Pediatrica (IRP).
Publisher Copyright:
© 2020, The Author(s), under exclusive licence to European Society of Human Genetics.
PY - 2021/3
Y1 - 2021/3
N2 - Germline pathogenic variants in AMER1 cause osteopathia striata with cranial sclerosis (OSCS: OMIM 300373), an X-linked sclerosing bone disorder. Female heterozygotes exhibit metaphyseal striations in long bones, macrocephaly, cleft palate, and, occasionally, learning disability. Male hemizygotes typically manifest the condition as fetal or neonatal death. Somatically acquired variants in AMER1 are found in neoplastic tissue in 15–30% of patients with Wilms tumor; however, to date, only one individual with OSCS has been reported with a Wilms tumor. Here we present four cases of Wilms tumor in unrelated individuals with OSCS, including the single previously published case. We also report the first case of bilateral Wilms tumor in a patient with OSCS. Tumor tissue analysis showed no clear pattern of histological subtypes. In Beckwith–Wiedemann syndrome, which has a known predisposition to Wilms tumor development, clinical protocols have been developed for tumor surveillance. In the absence of further evidence, we propose a similar protocol for patients with OSCS to be instituted as an initial precautionary approach to tumor surveillance. Further evidence is needed to refine this protocol and to evaluate the possibility of development of other neoplasms later in life, in patients with OSCS.
AB - Germline pathogenic variants in AMER1 cause osteopathia striata with cranial sclerosis (OSCS: OMIM 300373), an X-linked sclerosing bone disorder. Female heterozygotes exhibit metaphyseal striations in long bones, macrocephaly, cleft palate, and, occasionally, learning disability. Male hemizygotes typically manifest the condition as fetal or neonatal death. Somatically acquired variants in AMER1 are found in neoplastic tissue in 15–30% of patients with Wilms tumor; however, to date, only one individual with OSCS has been reported with a Wilms tumor. Here we present four cases of Wilms tumor in unrelated individuals with OSCS, including the single previously published case. We also report the first case of bilateral Wilms tumor in a patient with OSCS. Tumor tissue analysis showed no clear pattern of histological subtypes. In Beckwith–Wiedemann syndrome, which has a known predisposition to Wilms tumor development, clinical protocols have been developed for tumor surveillance. In the absence of further evidence, we propose a similar protocol for patients with OSCS to be instituted as an initial precautionary approach to tumor surveillance. Further evidence is needed to refine this protocol and to evaluate the possibility of development of other neoplasms later in life, in patients with OSCS.
UR - http://www.scopus.com/inward/record.url?scp=85090240212&partnerID=8YFLogxK
U2 - 10.1038/s41431-020-00718-4
DO - 10.1038/s41431-020-00718-4
M3 - Article
C2 - 32879452
AN - SCOPUS:85090240212
VL - 29
SP - 396
EP - 401
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 3
ER -