Fusion partners of KMT2A affect disease phenotype and influence the current World Health Organization classification of hematologic neoplasms. The t(11;16)(q23;p13)/KMT2A-CREBBP is considered presumptive evidence of a myelodysplastic syndrome (MDS) and a MDS-related cytogenetic abnormality in the classification of acute myeloid leukemia (AML). Here, we report 18 cases of hematologic neoplasms with t(11;16). There were 8 males and 10 females with a median age of 51.9 years at time of detection of t(11;16). Of 17 patients with enough clinical information and pathological materials for review, 16 had a history of cytotoxic therapies for various malignancies including 12/15 patients who received topoisomerase II inhibitors, and 15 were classified as having therapy-related neoplasms. The median interval from the diagnosis of primary malignancy to the detection of t(11;16) was 23.2 months. Dysplasia, usually mild, was observed in 7/17 patients. Blasts demonstrated monocytic differentiation in 8/8 patients who developed AML at the time or following detection of t(11;16). t(11;16) was observed as the sole chromosomal abnormality in 10/18 patients. KMT2A rearrangement was confirmed in 11/11 patients. The median survival from the detection of t(11;16) was 15.4 months. In summary, t(11;16)(q23;p13) is rare and overwhelmingly associated with prior exposure of cytotoxic therapy. Instead of being considered presumptive evidence of myelodysplasia, we suggest that the detection of t(11;16) should automatically prompt a search for a history of malignancy and cytotoxic therapy so that proper risk stratification and clinical management are made accordingly. The dismal outcome of patients with t(11;16) is in keeping with that of therapy-related neoplasms.

中文翻译：

---

t（11; 16）（q23; p13）/ KMT2A-CREBBP在血液系统恶性肿瘤中：骨髓增生异常或与治疗有关的肿瘤的推测证据？

KMT2A的融合伴侣会影响疾病表型并影响世界卫生组织当前对血液肿瘤的分类。t（11; 16）（q23; p13）/ KMT2A-CREBBP被认为是急性增生性白血病（AML）分类中骨髓增生异常综合症（MDS）和MDS相关的细胞遗传学异常的推定证据。在这里，我们报告18例血液肿瘤t（11; 16）。在检测到t（11; 16）时，有8位男性和10位女性，中位年龄为51.9岁。在17例具有足够临床信息和病理资料可供回顾的患者中，有16例具有各种恶性肿瘤的细胞毒性治疗史，包括接受拓扑异构酶II抑制剂的12/15例患者，其中15例被归类为与治疗相关的肿瘤。从诊断原发恶性肿瘤到检测t（11; 16）的中位间隔为23.2个月。在7/17例患者中发现了通常为轻度的发育异常。在8例在检测t（11; 16）时或之后出现AML的患者中，爆炸显示单核细胞分化。t（11; 16）被观察为10/18患者的唯一染色体异常。在11/11例患者中确认了KMT2A重排。检测到t（11; 16）的中位生存期为15.4个月。总而言之，t（11; 16）（q23; p13）很少见，并且与先前暴露于细胞毒性治疗中的绝大多数相关。我们建议不要将t（11; 16）应自动提示寻找恶性肿瘤和细胞毒性疗法的病史，以便相应地进行适当的危险分层和临床管理。t（11; 16）患者的不良结局与治疗相关肿瘤的结局一致。