Tenri Medical Bulletin
Online ISSN : 2187-2244
Print ISSN : 1344-1817
ISSN-L : 1344-1817
Case Report
Chronic myelomonocytic leukemia carrying t(11;19)(q23;p13.1); MLL-ELL fusion gene associated with ileocecal inflammatory disease
Futoshi IiokaYusuke TakahashiTakaaki YoshikawaKatsuyo TsudaFumihiko NakamuraTakashi MisakiMiho NakagawaChiyuki KishimoriKatsuhiro FukutsukaAtsuko OkumuraHitoshi Ohno
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2012 Volume 15 Issue 1 Pages 53-61

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Abstract

 A 58-year-old woman presented with protracted fever and absolute monocytosis in the peripheral blood. Imaging studies suggested an inflammatory condition of the terminal ileum and colonoscopic examination revealed multiple ileocecal ulcers. The patient was treated with prednisolone, leading to not only resolution of inflammatory symptoms but also a favorable hematological response; during the response, the patient successfully underwent endoscopic submucosal dissection for coexistent early gastric cancer. The disease finally evolved into florid acute monocytic leukemia (AMoL), which responded well to induction chemotherapy consisting of cytarabine and idarubicin. Fluorescence in situ hybridization showed that nuclei of monocytes at presentation carried the split signal pattern of the MLL gene and, in combination with a reverse transcriptase-mediated polymerase chain reaction, cells were clonally marked with t(11;19)(q23;p13.1), generating the MLL-ELL fusion gene. The karyotype obtained at progression was 47,XX,+8,t(11;19)(q23;p13.1).ish t(11;19)(5′MLL;3′MLL), indicating that trisomy 8 appeared in association with the evolution to AMoL. We concluded that the disease met the criteria of chronic myelomonocytic leukemia (CMMoL), and the ileocecal lesion represented a paraneoplastic inflammatory condition associated with CMMoL/AMoL.

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© 2012 Tenri Foundation, Tenri Institute of Medical Research
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