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Defu Medical Publishing House published the latest article in the International Journal of General Medicine, an early precursor T-cell acute lymphoblastic leukemia with SET-NUP214 fusion gene and expression of B cell markers.
Abstract: Abstract: Early precursor T-cell acute lymphoblastic leukemia (ETP-ALL) is rare, especially in adult patients, and the clinical outcome is poor.
ETP tumor cells expressing cross-lineage antigens or lacking pan-T cell markers often pose a huge challenge to diagnosis, and the impact on prognosis is even less clear.
This study reported a rare case of acute leukemia in a 44-year-old female who initially presented as a breast mass and expressed both T cell and B cell characteristics (cytoplasmic CD3+CD7+CD19+CD79a+).
Although a small number of B cells have IGH and IGK gene rearrangements, the patient was diagnosed as T-ALL according to WHO criteria, and based on the positive expression of stem/myeloid antigens (CD34+CD13+CD33+HLA-DR+), it was further identified as ETP- ALL rather than mixed phenotype ALL.
In addition, this patient has a normal karyotype and SET-NUP214 gene fusion.
This phenomenon has not been reported in ETP-ALL with a dual phenotype.
After receiving high-intensity chemotherapy, the patient achieved a short-term morphological complete remission, but then relapsed within a month.
This article can expand the immunological phenotype and clinical manifestations of adult ETP-ALL, highlighting the important role of comprehensive testing in the differential diagnosis and differentiation of acute leukemia subtypes.
Keywords:adult acute lymphoblastic leukemia, early T-cell precursor, mixed phenotype acute leukemia, breast infiltration, SET-NUP214 fusion gene
Abstract: Abstract: Early precursor T-cell acute lymphoblastic leukemia (ETP-ALL) is rare, especially in adult patients, and the clinical outcome is poor.
ETP tumor cells expressing cross-lineage antigens or lacking pan-T cell markers often pose a huge challenge to diagnosis, and the impact on prognosis is even less clear.
This study reported a rare case of acute leukemia in a 44-year-old female who initially presented as a breast mass and expressed both T cell and B cell characteristics (cytoplasmic CD3+CD7+CD19+CD79a+).
Although a small number of B cells have IGH and IGK gene rearrangements, the patient was diagnosed as T-ALL according to WHO criteria, and based on the positive expression of stem/myeloid antigens (CD34+CD13+CD33+HLA-DR+), it was further identified as ETP- ALL rather than mixed phenotype ALL.
In addition, this patient has a normal karyotype and SET-NUP214 gene fusion.
This phenomenon has not been reported in ETP-ALL with a dual phenotype.
After receiving high-intensity chemotherapy, the patient achieved a short-term morphological complete remission, but then relapsed within a month.
This article can expand the immunological phenotype and clinical manifestations of adult ETP-ALL, highlighting the important role of comprehensive testing in the differential diagnosis and differentiation of acute leukemia subtypes.
Keywords:adult acute lymphoblastic leukemia, early T-cell precursor, mixed phenotype acute leukemia, breast infiltration, SET-NUP214 fusion gene
