| Session: Extramedullary manifestation of neoplastic myeloid disorder |
| Case number: 073 |
Submitter(s): Xianfeng F. Zhao, Wenle Wang, William Rodgers, Sanford A. Stass.
Clinical history
A 58-year-old Caucasian female presented with 1-month duration of vague abdominal pain, low grade fever and fatigue. Her initial workups, including CBC with automated differential, were within normal limits. Two months later, she presented to a local emergency room with fever, abdominal pain, nose bleeding, headache, and double vision. She was transferred to the University of Maryland Medical Center with a WBC of 222,000/[mu]L.
Physical examination revealed gingival hypertrophy and bleeding, diffuse lymphadenopathy, and right upper quadrant tenderness with a positive Murphy's sign. A CBC showed a WBC of 229,700/uL with 85% blasts, 1% neutrophils, 11% lymphocytes, and 3% monocytes; hemoglobin 5.8 g/dL; hematocrit 18.2%; and platelets 13,000/uL. Other laboratory data were relatively unremarkable.
The patient was diagnosed acute myeloid leukemia with monocytic differentiation. She received induction chemotherapy with idarubicin and cytarabine, and achieved remission upon marrow biopsy.
The patient complained of abdominal pain with low grade fever again shortly after recovery of her peripheral blood counts. Abdominal CT scan revealed no obvious cause for her abdominal pain. Blood cultures grew Acinetobacter lwoffi. Since the gallbladder was thought to be the source of bacteremia, an elective cholecystectomy was performed. Unexpectedly, the gall bladder wall was diffusely infiltrated by large atypical cells.
Eleven days after the cholecystectomy, 4% circulating blasts were identified. A repeat bone marrow biopsy confirmed the relapse of leukemia. The patient was treated with high dose cytarabine and mitoxantrone. After a prolonged period of pancytopenia, the patient finally entered complete remission with no evidence of residual leukemia 6 weeks after reinduction. Due to her high-risk disease, the patient underwent allogeneic peripheral blood stem cell transplantation from her HLA matched sibling. The conditioning regimen included fractionated total body irradiation (12Gy) and melphalan 100 mg/m2. Unfortunately, 2 months later her disease relapsed again and the patient died of her disease 4 months later.
Details of gross/microscopic pathology:
The H&E sections show portions of the gallbladder wall diffusely infiltrated by large atypical cells with abundant cytoplasm, round to folded nuclei, fine chromatin, and occasional small nucleoli, consistent with monoblasts and promonocytes.
Immunophenotype (flow cytometry/immunohistochemistry):
Parffin immunoperoxidase stains show that the neoplastic cells are CD4+, CD43+, CD68+ and CD163+, but negative for CD34 and MPO.
Cytogenetics:
Cytogenetics demonstrates trisomy 8 and 13.
Molecular analysis:
Molecular studies identify Fms-like receptor tyrosine kinase 3 internal tandem duplication (FLT3 ITD) mutation.
Interesting feature(s) of submitted case:
Extramedullary recurrence of acute myeloid leukemia presenting as acute cholycystitis.
Proposed diagnosis:
Extramedullary acute myeloid leukemia/Monoblastic sarcoma.
Panel diagnosis:
agree with proposed diagnosis
Comments:
Stains performed by the panel: NPM1 + in cytoplasm
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