PMC8008180_01
CT abdomen with ileocecal mass (arrows) measuring approximately 4.75 cm in diameter.
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CMP, and LDH were all within normal limits. Computed tomography imaging (CT) of the chest and abdomen demonstrated the presence of an ileocecal mass (Fig. 1) as well as notable mesenteric lymphadenopathy.
H&E section of the peritoneal mass from right semi-hemicolectomy specimen demonstrating diffuse proliferation of mononucleated cells with open chromatin and multiple nucleoli; frequent mitosis and apoptosis are present (A, x600). The neoplastic cells were positive for myeloperoxidase (B, x 600), CD68 PGM1 (C, x 600), CD34, and CD117; consistent with the phenotype of myeloid blasts.
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The neoplastic cells were mononucleated with open chromatin and multiple nucleoli; mitosis and apoptosis were easily identified (Fig. 2A). The neoplastic cells were positive for myeloperoxidase (Fig. 2B), CD68 (PGM1) (Fig. 2C), CD34, CD117, and BCL2; negative for multiple markers targeting lymphocytic, histiocytic, epithelial, or melanocytic malignancies, including PAX5, CD3,
FISH was performed on the biopsy of peritoneal implant. The dual-color fusion-probe study demonstrated inv (16) MYH11/CBFB fusion gene.
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MYH11/CBFB fusion or inv(16)(p13.1q22) was identified in both specimens and confirmed by fluorescence in situ hybridization (FISH) on the tissue biopsy (Fig. 3), additional abnormalities of 7q deletion and trisomy 22 were detected in the peritoneal fluid. Molecular study by next generation sequencing on the peritoneal fluid revealed CBL gene mutation.