Onkologie. 2023:17(5):312-315 | DOI: 10.36290/xon.2023.058

Risks of hemato-oncological diseases in Noonan syndrome

Terézia Tureková^{1, 2}, Danica Zapletalová^{1, 2}, Hana Bernatíková^{1, 2}, Martin Baláž^{1, 2}, Klára Drábová^{1, 2}

¹ Klinika dětské onkologie, Fakultní nemocnice, Brno

² Lékařská fakulta, Masarykova univerzita, Brno

Noonan syndrome is a common hereditary condition with a heterogeneous genetic background and great variability in clinical manifestations. In addition to various birth defects and abnormalities, the affected patients have also an increased risk of developing a malignant disease in childhood. In the following case reports, we present two typical hemato-oncological diagnoses associated with Noonan syndrome - transient myeloproliferative disorder and acute lymphoblastic leukemia. Differences in the case history, diagnostic process and the course of treatment led us to search for the genetic basis of the difficulties with the subsequent confirmation of Noonan's syndrome.

Keywords: Noonan syndrome, juvenile myelomonocytic leukemia, acute lymphoblastic leukemia, transient myeloproliferative disorder.

Accepted: November 28, 2023; Published: November 29, 2023  Show citation