Genetic counselling in patient with hereditary renal cancer and complex chromosomal aberrations including chromosome 3 translocation: case study and literature review

Mikhaylenko D.S., Kuryakova N.B., Markova Zh.G., Shilova N.V., Zaletaev D.V.

1) Research Centre for Medical Genetics, Moscow, Russia; 2) I.M. Sechenov First Moscow State Medical University, Moscow, Russia

Renal cancer (RC) is a common oncological disease in adults. About 5% of RC are caused by germline mutations and are manifestation of hereditary cancer syndromes: von Hippel-Lindau syndrome, Burt-Hogg-Dube syndrome and other monogenic forms of hereditary RC. A few studies were reported about a rare form of hereditary RC with a balanced chromosome 3 translocation, as well as other congenital chromosomal rearrangements associated with an increased risk of RC. We have described for the first time a case of complex chromosomal pathology in the patient with Klinefelter syndrome and balanced translocation involving chromosome 3: karyotype 47,XXY, t(3;8)(q23;p21). The patient developed clear cell RC at a young age, and had RC family history in the paternal line of pedigree. Using this example, we have discussed the features of medical genetic counseling and active surveillance in patients with chromosomal aberrations predisposing to RC.

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About the Authors

Corresponding author: D.S. Mikhaylenko – PhD, head of the Department of Oncogenetics, Institute of Higher and Additional Professional Education, Research Centre for Medical Genetics, leading researcher of the Laboratory of Medical Genetics, Institute of Translational Medicine and Biotechnology, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia, e-mail: dimserg@mail.ru

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