RESUMO
Malignant giant cell tumor of bone (GCTB) is a rare, aggressive, sarcoma occurring in adolescent and young adults. It is characterized by the presence of multinucleated giant cells and an aggressive clinical course. Because of the rarity of this tumor, no standard therapies have been identified. Current treatment regimens often include osteosarcoma chemotherapy protocols. We present a case of a malignant GCTB with a KRAS G12V mutation. This mutation is a known oncogenic driver that has not previously been reported on patients with malignant GCTB.
Assuntos
Neoplasias Ósseas , Tumor de Células Gigantes do Osso , Mutação de Sentido Incorreto , Proteínas Proto-Oncogênicas p21(ras)/genética , Adulto , Substituição de Aminoácidos , Neoplasias Ósseas/tratamento farmacológico , Neoplasias Ósseas/genética , Tumor de Células Gigantes do Osso/tratamento farmacológico , Tumor de Células Gigantes do Osso/genética , Humanos , MasculinoRESUMO
The RAS/mitogen-activated protein kinase pathway plays a significant role in cell cycle regulation. Germline mutation of this pathway leads to overlapping genetic disorders, RASopathies, and is also an important component of tumorigenesis. Here we describe a rare case of myelodysplastic syndrome with monosomy 7 in a pediatric patient with a germline RRAS mutation. RRAS mutations have been implicated in the development of juvenile myelomonocytic leukemia, but our case suggests RRAS mutations display a broader malignant potential. Our case supports the recommendation that genetic testing should include RRAS in suspected RASopathy patients and if identified, these patients undergo surveillance for hematologic malignancy.
