Abstract
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.
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References
Wang LL, Plon SE (1999) Rothmund-Thomson syndrome. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews®. Seattle (WA) University of Washington, Seattle, pp 1993–2021
Colombo EA, Locatelli A, Cubells Sánchez L, Romeo S, Elcioglu NH, Maystadt I, EsteveMartínez A, Sironi A, Fontana L, Finelli P, Gervasini C, Pecile V, Larizza L (2018) Rothmund-Thomson syndrome: insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome. Int J Mol Sci 19(4):1103
Mojumdar A (2020) Mutations in conserved functional domains of human RecQ helicases are associated with diseases and cancer: a review. Biophys Chem 265:106433
Ajeawung NF, Nguyen TTM, Lu L, Kucharski TJ, Rousseau J, Molidperee S, Atienza J, Gamache I, Jin W, Plon SE, Lee BH, Teodoro JG, Wang LL, Campeau PM (2019) Mutations in ANAPC1, encoding a scaffold subunit of the anaphase-promoting complex, cause Rothmund-Thomson syndrome type 1. Am J Hum Genet 105(3):625–630
Salih A, Inoue S, Onwuzurike N (2018) Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation. Case Rep. https://doi.org/10.1136/bcr-2017-222384
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Judith Balmaña Gelpi: honoraria for advisory from AZ and Pfizer.
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Marmolejo Castañeda, D.H., Cruellas Lapeña, M., Carrasco López, E. et al. A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome. Familial Cancer 22, 99–102 (2023). https://doi.org/10.1007/s10689-022-00303-2
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DOI: https://doi.org/10.1007/s10689-022-00303-2