Refractory primary myeloid sarcoma of the breast with MLL-AF9 rearrangement
Refractory primary myeloid sarcoma of the breast with MLL-AF9 rearrangement
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MLL-AF9 重排的难治性乳腺原发性骨髓肉瘤
DOI：
10.11406/rinketsu.57.47
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Miura O and Yamamoto M
中科院分区：
文献类型：
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作者：
Uchida E;Watanabe K;Oshikawa G;Sakashita C;Kurosu T;Fukuda T;Arai A;Murakami N;Miura O and Yamamoto M
一位28岁的女性，右乳房肿块和腋窝淋巴结肿大。乳腺肿块活检显示髓样肉瘤（MS）CD 4、CD 13、CD 33和CD 68/KP-1染色阳性。骨髓穿刺显示白血病细胞浸润（9%）。白血病细胞具有+ 8和t（9; 11）（p22; q23）+ 22（仅淋巴结）的细胞遗传学异常，并且分子分析证实了MLL-AF 9融合基因。经诱导化疗和第2次巩固治疗后，维持完全缓解。然而，在乳腺肿块的巩固放射治疗期间，乳腺和骨髓中的疾病均发生进展。她接受了再诱导治疗，并进行了异基因干细胞移植。然而，移植后不久，乳腺疾病复发，她死于疾病进展。在乳腺MS病例中报告了8三体和MLL-AF 9融合基因。在髓外病变中额外和专门发现的22三体意味着MS从起源的髓外部位向髓外进展，并且可能与我们病例中这些病变的独特治疗抗性相关。
A 28-year-old woman presented with a right breast mass and axillary lymphadenopathy. Biopsy of the breast mass revealed myeloid sarcoma (MS) staining positive for CD4, CD13, CD33, and CD68/KP-1. Bone marrow aspiration revealed leukemic cell infiltration (9%). Leukemic cells possessed cytogenetic abnormalities of+ 8 and t (9; 11)(p22; q23) with+ 22 (lymph node only), and molecular analyses confirmed the MLL-AF9 fusion gene. After induction chemotherapy and 2 (nd) consolidation therapy, complete remission was maintained. However, during consolidation radiotherapy for the breast mass, the disease progressed in both the breast and bone marrow. She received re-induction therapy and proceeded to allogeneic stem cell transplantation. However, the disease relapsed in the breast soon after transplantation, and she died from disease progression. Trisomy 8 and the MLL-AF9 fusion gene have been reported in cases with MS in the breast. Trisomy 22 found additionally and exclusively in the extramedullary lesion implies extramedullary progression of MS from the medullary site of origin and may have been associated with the distinctive therapy resistance of these lesions in our case.