CASE PRESENTATION
Thirty-six years old Indian gentleman with no previous medical or surgical history presented to the emergency department complaining of diffuse abdominal pain for one day. The pain was associated with repeated vomiting and loss of appetite. Initially, the pain was generalized and vague, then became more localized to the right lower abdomen. There were no hematemesis or melena, no history of fever or upper respiratory symptoms. No dysuria or change in bowel habits. No scrotal or testicular pain. On physical examination, there was tenderness in the right lower quadrant. Blood investigations showed significantly elevated WBC 317.3 x109/L (4-10 x109/L). (lab results in table 1.)
CT scan of the abdomen (Radiology images A and B) showed moderate splenomegaly and dilated appendix, measuring 1.8 cm in maximum diameter with peri appendiceal fat stranding and minimal free fluid in the right iliac fossa. No appendicoliths are noted, suggestive of acute appendicitis. He went for laparoscopic appendectomy and was found to have acute gangrenous appendicitis intraoperatively. The appendix was sent for histopathology, which revealed severe acute appendicitis (figures 1 and 2).
After surgery, further investigation for leukocytosis was done. Peripheral smear showed normochromic normocytic anemia with severe leukocytosis, shift to left, and basophilia, suggestive of a myeloproliferative disorder. Cytogenetic and molecular studies were positive for an e14a2 BCR-ABL1 gene fusion by single-step RT-PCR. No evidence of mutations within the JAK2 or CALR genes. Interphase Fluorescence in Situ Hybridization (FISH) showed BCR/ABL1 rearrangement in 97% of nuclei. Bone marrow biopsy showed hypercellular bone marrow (~90-100% cellularity) with remarkable granulocytic hyperplasia with only 2% blast. Karyotype result showed 46, XY, t (9;22) (q34; q11.2).
The patient was started on hydroxyurea 1 gm three times daily and rasburicase. After confirming the diagnosis, the patient preferred to get treatment in his home country and traveled back to India.
Table 1. Lab tests and results