A 71-year-old woman presented with a 1-month history of epigastric pain. An esophagogastroduodenoscopy performed at a local medical center showed findings of gastritis. Despite medication, her symptoms aggravated and she was referred to the Gastroenterology Department on March 6, 2016. Laboratory examinations showed Hb, 11.9 g/dL; leukocyte count, 7.84×109/L; and platelet count, 67×109/L.
ESR level was 59. The CRP level was 5.83. The AST level was 55 and the ALT level was 71. The chest X-ray was unremarkable. The abdominopelvic CT revealed scanty amount of free fluid in the pelvic cavity, many small sized lymph nodes defined at the periportal area, and mild hepatosplenomegaly. Esophagogastroduodenoscopy was done again and showed findings of …show more content…
Atypical MC type I and mature MCs were not seen. The cells were negative for myeloperoxidase and periodic acid-Schiff. Flow cytometric immunophenotyping showed positive expression of CD 13, CD 33, and CD 117, but lacked MPO, CD34, HLA-DR, CD 41, CD14, CD64 and B and T cell lineage markers. To this point, the diagnosis was suggestive for acute leukemia of basophilic or mast cell lineage.
One day after the BM biopsy was performed, the patient developed leukocytosis, and thrombocytopenia aggravated. O2 saturation dropped to 90%, tachycardia of HR 150 and high BP of 180/85 were checked, and mental drowsiness was observed. Laboratory findings showed acute hepatic failure and prolongation of PT/aPTT with metabolic acidosis. Her condition rapidly deteriorated and eventually died of shock???
Later on, BM trephine biopsy revealed ????. Tryptase level exceeded 200. Six out of 200 samples showed 3 positive signals on a FISH analysis with RUNX1/RUNX1T1. PML/RARA, CBFB-MYH, MLL probes showed normal findings. C-kit mutation screening by PCR on D816V, D816Y, D816H, and N822K showed no mutation. C-kit gene sequencing on exon 9 and 11 showed no mutations. Immunohistochemistry was negative for CD2 and CD25.
Based on the conclusion, the patient was diagnosed with a de novo aleukemic variant of
ESR level was 59. The CRP level was 5.83. The AST level was 55 and the ALT level was 71. The chest X-ray was unremarkable. The abdominopelvic CT revealed scanty amount of free fluid in the pelvic cavity, many small sized lymph nodes defined at the periportal area, and mild hepatosplenomegaly. Esophagogastroduodenoscopy was done again and showed findings of …show more content…
Atypical MC type I and mature MCs were not seen. The cells were negative for myeloperoxidase and periodic acid-Schiff. Flow cytometric immunophenotyping showed positive expression of CD 13, CD 33, and CD 117, but lacked MPO, CD34, HLA-DR, CD 41, CD14, CD64 and B and T cell lineage markers. To this point, the diagnosis was suggestive for acute leukemia of basophilic or mast cell lineage.
One day after the BM biopsy was performed, the patient developed leukocytosis, and thrombocytopenia aggravated. O2 saturation dropped to 90%, tachycardia of HR 150 and high BP of 180/85 were checked, and mental drowsiness was observed. Laboratory findings showed acute hepatic failure and prolongation of PT/aPTT with metabolic acidosis. Her condition rapidly deteriorated and eventually died of shock???
Later on, BM trephine biopsy revealed ????. Tryptase level exceeded 200. Six out of 200 samples showed 3 positive signals on a FISH analysis with RUNX1/RUNX1T1. PML/RARA, CBFB-MYH, MLL probes showed normal findings. C-kit mutation screening by PCR on D816V, D816Y, D816H, and N822K showed no mutation. C-kit gene sequencing on exon 9 and 11 showed no mutations. Immunohistochemistry was negative for CD2 and CD25.
Based on the conclusion, the patient was diagnosed with a de novo aleukemic variant of