Dear Editor, A 29-year-old woman (patient 1) presented to our facility in August 2011 for migrating arthralgia at bilateral elbow and knee joints. CT scan revealed coarse articular surface of bilateral sacroiliac joints with slight irregularity. Serological tests for autoantibodies were all negative. Three months later, palpable masses were sequentially reported at the left and right breast. Fine needle biopsy of the left breast indicated malignancy with hematopoietic origin. Bone marrow aspiration revealed acute myeloid leukemia with FAB AML-M4 morphology. Flow cytometric study showed 21 % malignant cells of marrow sample, which had an expression of surface markers including CD117, CD33, CD38, CD15, CD64, CD4, and CD56. Malignant cells possessed a recurrent cytogenetic aberration shown by G-banding as 47, XX, + 8, t(9;11)(p22;q23). Further molecular surveys confirmed the existence of an MLL-AF9 fusion gene. Patient 2 was a 28year-old woman who presented to our facility in October 2012 because of a palpable mass at left breast for 4 months. Fine needle biopsy indicated malignancy with hematopoietic origin. Bone marrow aspiration revealed acute myeloid leukemia with FAB AML-M4 morphology. Flow cytometric study showed 76 % malignant cells of marrow sample, which had an expression of surface markers including CD117, CD13, CD33, CD34, CD38, MPO, and HLA-DR. No overt cytogenetic aberration was shown by G-band karyotyping, but further molecular surveys disclosed the existence of an MLL-AF9 fusion gene. Mutational surveys in both patients revealed no acute myeloid leukemia (AML)-related mutations involving FLT3, NPM1, CEBPA, or C-KIT. They achieved hematological complete remission after two courses of chemotherapy utilizing idarubicin and cytarabine regimen and underwent consolidation with mid-dose cytarabine. Myeloid sarcoma (MS), previously referred to as granulocytic sarcoma or chloroma, is a rare entity of AML [1]. It represented a mixed group of AMLs with overt extramedullary involvement including the skin, lymph node, bone, testis, central nervous system, intestine, and other soft tissues. Breast involvements, even solitary extramedullary cases without evidence of bone marrow lesion, have been well described [2–4]. The presentation of accompanying AML varied among cases, which could occur prior to, simultaneous with, or months later than the diagnosis of myeloid sarcoma [1–6]. Cytogenetic data of MS are relatively limited, partly due to operational difficulties during sampling and banding procedures. Certain cytogenetic aberrations as t(8:21) were related to pediatric patients, especially those with lesions at orbital level [5]. On the other hand, it was reported by Pileri et al. that MLL rearrangement, trisomy 8, and monosomy 7 occurred more frequently among adult patients [6]. Interestingly, both cases of breast involvement with confirmed cytogenetic aberrations reported by Pileri et al. demonstrated trisomy 8, one of which might also harbored MLLAF9 rearrangement (Table 1). Although chromosomal abnormalities including trisomy 8 and t(9;11) have been associated with MS, the possible link between MLL-AF9 and MS has not been frequently reported [7, 8]. MLL-AF9 rearrangement is found in 2–5 % of AML and up to 25 % in de novo M5a of children, while trisomy 8 appears as additional cytogenetic abnormality in 20% of cases harboring MLL-AF9 [9]. MLL-AF9, as well as additional trisomy 8, seemed to demonstrate a strikingly high prevalence among MS patients with breast involvement, but its prognostic value could not be adequately evaluated in this small cohort. Contemporary molecular surveys might help to B. Wu : F. Li (*) : S. Zou Department of Hematology, Zhongshan Hospital Fudan University, 180 Fenglin Road, Shanghai 200032, China e-mail: li.feng@zs-hospital.sh.cn
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