Details

Autor(en) / Beteiligte

• Menchits, Yaroslav
• Salimova, Tatiana
• Komkov, Alexander
• Abramov, Dmitry
• Konyukhova, Tatiana
• Abasov, Ruslan
• Raykina, Elena
• Itov, Albert
• Gaskova, Marina
• Borkovskaia, Aleksandra
• Kazakova, Anna
• Soldatkina, Olga
• Kashpor, Svetlana
• Semchenkova, Alexandra
• Popov, Alexander
• Novichkova, Galina
• Olshanskaya, Yulia
• Maschan, Alexey
• Zerkalenkova, Elena

Titel

Unusual Presentation of SET::NUP214-Associated Concomitant Hematological Neoplasm in a Child—Diagnostic and Treatment Struggle

Ist Teil von

• International journal of molecular sciences, 2023-10, Vol.24 (19), p.14451

Ort / Verlag

Basel: MDPI AG

Erscheinungsjahr

2023

Quelle

Free E-Journal (出版社公開部分のみ）

Beschreibungen/Notizen

• Simultaneous multilineage hematologic malignancies are uncommon and associated with poorer prognosis than single-lineage leukemia or lymphoma. Here, we describe a concomitant malignant neoplasm in a 4-year-old boy. The child presented with massive lymphoproliferative syndrome, nasal breathing difficulties, and snoring. Morphological, immunocytochemical, and flow cytometry diagnostics showed coexistence of acute myeloid leukemia (AML) and peripheral T-cell lymphoma (PTCL). Molecular examination revealed a rare t(9;9)(q34;q34)/SET::NUP214 translocation as well as common TCR clonal rearrangements in both the bone marrow and lymph nodes. The disease showed primary refractoriness to both lymphoid and myeloid high-dose chemotherapy as well as combined targeted therapy (trametinib + ruxolitinib). Hence, HSCT was performed, and the patient has since been in complete remission for over a year. This observation highlights the importance of molecular techniques for determining the united nature of complex SET::NUP214-positive malignant neoplasms arising from precursor cells with high lineage plasticity.