A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.

Autor: Marmolejo Castañeda DH; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain., Cruellas Lapeña M; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain.; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Carrasco López E; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Aparicio Español G; Dermatology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Valverde Morales C; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain., López-Fernández A; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Pérez Ballesteros E; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Torres-Esquius S; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Pardo Muñoz M; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Balmaña Gelpi J; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain. jbalmana@vhio.net.; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain. jbalmana@vhio.net.
Jazyk: angličtina
Zdroj: Familial cancer [Fam Cancer] 2023 Jan; Vol. 22 (1), pp. 99-102. Date of Electronic Publication: 2022 Jul 04.
DOI: 10.1007/s10689-022-00303-2
Abstrakt: Rothmund-Thomson syndrome, a heterogeneous genodermatosis with autosomal recessive hereditary pattern, is an uncommon cancer susceptibility genetic syndrome. To date, only 400 cases have been reported in the literature, and the severity of the features varies among individuals with the condition. Here, we describe a 55-year-old male who had been diagnosed with Bloom Syndrome during childhood due to the suggestive physical features such as short stature, chronic facial erythema, poikiloderma in face and extremities, microtia and microcephaly. However, the genetic test demonstrated that the patient carried two pathogenic variants resulting in compound heterozygous in the RECQL4 gene (c.2269C>T and c.2547_2548delGT). He subsequently developed a calcaneal osteosarcoma, which was successfully treated, and has currently been oncologic disease-free for 3 years.
(© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)
Databáze: MEDLINE
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