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