case_images: PMC11410684_01
case_images: Pathology,laboratory examination results and entire treatment course of the patient. (A) HE staining revealed pathological alterations in the patient's lymph nodes, characterized by a loss of the typical lymph node architecture and a diffuse infiltration of medium-sized, atypical lymphocytes.These atypical lymphocytes featured scanty cytoplasm, round nuclei containing fine chromatin, and inconspicuous nucleoli.Immunohistochemical analysis revealed expression of CD7, TdT, MPO, CD33, and Ki67 in the atypical lymphocytes, along with weak CD3 and CD34 expression, and a lack of CD20 expression. (B) In bone marrow smears, the presence of abnormal blast cells is discernible, and PAS staining demonstrates the deposition of glycogen within these cells. (C) FISH analysis with the NUP98 separation probe distinctly reveals the presence of the NUP98 separation signal, indicated by a white arrow. (D) Flow cytometry analysis of bone marrow identified two distinct subpopulations of leukemia cells:(1) A major clonal tumor subgroup, labeled as the 'red group', comprising 30.73% of nucleated cells,expressing CD34, CD38dim, TDT, CD117, CD33bright, CD13, and partially expressing HLA-DRdim, CD7 and cCD3dim, not expressing MPO, CD36, CD14, CD42a, CD15, CD371, CD11b, CD2, CD5, CD3, CD56, CD4 and CD8. This confirmed the classification of the 'red group' as a malignant primitive cell subset, displaying both myeloid and T-lineage markers. (2)A second distinct population of small clonal tumor cells, designated the 'blue group', accounted for 0.94% of nucleated cells. These cells expressing CD7, cCD3, TDT and CD38, with partial expression of CD117 and CD33dim, not expressing CD34, HLA-DR, CD13, MPO, CD36, CD14, CD64,CD42a, CD15, CD371, CD11b, CD2, CD3,CD5, CD56, CD4, and CD8. This confirmed the 'blue group' as malignant precursor T-cell exhibiting myeloid markers. (E) RNA sequencing revealed an in-frame fusion event between exon 8 of NUP98 and exon 3 of LEDGF. (F) The entire treatment course of the patiet. CHOP, cyclophosphamide, Adriamycin, vincristine, prednisone; Hyper CVAD-B, methotrexate, cytarabine; allo-HSCT, allogeneic hematopoietic stem cell transplantation; BM, bone marrow; MRD, Minimal residual disease; HAA, Homoharringtonine, aclarubicin, cytarabine; Ven, Venetoclax; AZA, Azacytidine; Chi, chidamide; Dec, decitabine.
case_images: fonc-14-1396655-g001.jpg
case_images: PMC11410684_01_fonc-14-1396655-g001.jpg
case_images: f1
case_images: This reevaluation confirmed the presence of a malignant lymphohematopoietic tumor expressing T cell and myeloid lineage antigens ( Figure 1A ). Figure 1B ) revealed the presence of abnormal blast cells, which comprised 31.5% of the total cellular population. FCM analysis of the bone marrow sample ( Figure 1C ) revealed 31.67% of malignant, immature cells that co-expressed markers of both myeloid and T-cell lineages. Figure 1D ) confirmed the presence of the NUP98-LEDGF fusion gene. Fluorescence in situ hybridization (FISH) was conducted on the initial lymph node biopsy specimen. The FISH analysis revealed a disruption in the NUP98 gene, as depicted in  Figure 1E . Figure 1F ). Following second allo-HSCT, patients consistently reported an improved quality of life, with a gradual resumption of routine social activities.