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SEPT6-ABL2 FUSION FOR USE IN THE DIAGNOSIS AND/OR TREATMENT OF CANCERCM Patents

The present invention refers to a cell line characterized by comprising the fusion gene [SEPT6-ABL2] within its genetic material, or the fusion transcript [SEPT6-ABL2], and also to the use of SEPT6-ABL2 fusion in a method for the diagnosis and/or treatment of cancer.

Datos clave

CategoríaInvención

Índice de la ficha

Updated at
05/11/2026
Numero publicacion
WO.2023001452.A1
Fecha publicacion
26/01/2023
Anio publicacion
2023
Numero solicitud
WO2022EP65750

En detalle

Reivindicaciones

1. 35 CLAIMS 1. Cell line characterized by comprising the fusion gene [ SEPT6-ABL2 ] within its genetic material, or the fusion transcript [SEPT6-ABL2], deposited at the German Collection of Microorganisms and Cell Cultures GmbH (DSMZ) with deposit number DSM ACC3372. 2. Cell line, according to claim 1, characterized by comprising the translocation t(X,l) (q24; q25.2) that fuses the genes [SEPT6-ABL2\. 3. Cell line, according to any of the previous claims, characterized by further comprising, within its genetic material, the deletion in 9p21.3 involving the gene CDKN2A , a rearrangement of TRB and/or the trisomy of chromosome 17. 4. Cell suspension comprising at least 80% of the cells according to any of the claims claim 1 to 3. 5. In vitro method for the diagnosis of T-ALL which comprises assessing the presence of the fusion gene or fusion transcript [SEPT6-ABL2] in a biological sample obtained from the patient, wherein the presence of the fusion gene or fusion transcript \SEPT6-ABL2] is indicative that the subject may be suffering from T-ALL. 6. In vitro method, according to claim 5, which further comprises determining the presence of the deletion in 9p21.3 involving CDKN2A , a rearrangement of TRB and/or the trisomy of chromosome 17 in a biological sample obtained from a patient. 7. In vitro method for subtyping T-ALL patients which comprises assessing the presence of the fusion gene or fusion transcript [SEPT6-ABL2] in a biological sample obtained from the patient, wherein the presence of the fusion gene or fusion transcript [SEPT 6- ABL2 ] is indicative that the subject may be suffering from T-ALL. 8. In vitro method, according to claim 7, which further comprises determining the presence of the deletion in 9p21.3 involving CDKN2A, a rearrangement of TRB and/or the trisomy of chromosome 17 in a biological sample obtained from a patient. 9. In vitro method, according to any of the claims 5 to 8, wherein the biological sample is blood or bone marrow. 10. In vitro use of the fusion gene or fusion transcript [SEPT6-ABL2] for the diagnosis of T-ALL. 11. In vitro use of the fusion gene or fusion transcript [ SEPT6-ABL2 ], according to claim 10, in combination with the use of the deletion in 9p21.3 involving the gene CDKN2A , a rearrangement of TRB and/or the trisomy of chromosome 17. 36 12. In vitro use of the fusion gene or fusion transcript [SEPT6-ABL2\ for subtyping T-ALL patients. 13 In vitro use of the fusion gene or fusion transcript [ SEPT6-ABL2 ], according to claim 12, in combination with the use of the deletion in 9p21.3 involving the gene CDKN2A , a rearrangement of TRB and/or the trisomy of chromosome 17. 14. Inhibitor of \SEPT6-ABL2 ], or of the signal induced thereof, selected from the group comprising: Tyrosine kinase inhibitor, PIM kinase inhibitor, or mTOR kinase inhibitor, or combinations thereof, for use in the treatment of T-ALL patients, wherein the patients are characterized by the presence of the fusion gene or fusion transcript [SEPT6-ABL2] 15. Inhibitor of [ SEPT6-ABL2 ], or of the signal induced thereof, selected from the group comprising: Tyrosine kinase inhibitor, PIM kinase inhibitor, or mTOR kinase inhibitor, or combinations thereof, for use, according to claim 14, in the treatment of T-ALL patients, wherein the patients are characterized by the presence of the fusion gene or fusion transcript [SEPT6-ABL2], in combination with deletion in 9p21.3 involving CDKN2A, and a rearrangement of TRB and/or the trisomy of chromosome 17. 16. Inhibitor of [SEPT6-ABL2], or of the signal induced thereof, for use according to any of the claims 14 or 15, wherein the Tyrosine kinase inhibitor is selected from: Brigatinib, Bosutinib, Dasatinib, Imatinib, Nilotinib, Ponatinib or Regorafenib, the PIM kinase inhibitor is PIM447, and the mTOR kinase inhibitor is Rampamycin.

Etiquetas

Inventores
Fernández Piqueras JoséFERNÁNDEZ PIQUERAS, JoséVILLA MORALES, MaríaVilla Morales MaríaLAHERA ALONSO, AntonioLahera Alonso AntonioVela Martín LauraVELA MARTÍN, LauraLÓPEZ NIEVA, PilarLópez Nieva PilarAyuso García CarmenAYUSO GARCÍA, CarmenLLAMAS SILLERO, PilarLlamas Sillero PilarLÓPEZ LORENZO, José LuisLópez Lorenzo José LuisCORNAGO NAVASCÚES, JavierCornago Navascúes JavierSALGADO SÁNCHEZ, RocíoSalgado Sánchez Rocío
Solicitantes
Universidad Autónoma de MadridFundación Instituto de Investigación Sanitaria Fundación Jiménez Díaz
Clasificacion ipc
C12Q 1/ 6886 A I
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