Supplementary Material for: Simultaneous and Sequential Concurrent Myeloproliferative and Lymphoproliferative Neoplasms

Concurrent manifestation of two chronic-stage myeloid and lymphoid/plasmacytoid neoplasms in one patient is rare and occurs in ≤1% of patients. There has been no systematic analysis of which combinations are frequent/infrequent and whether two concurrent diseases in one patient are clonally related or represent independent diseases. We therefore characterised a series of cases from our own archive (n = 65) and collected a large number of previously reported cases of patients in whom myeloid and lymphoid/plasmacytoid neoplasms co-occurred (n = 185). The most frequent combination was Philadelphia chromosome-negative myeloproliferative neoplasm with concurrent B cell chronic lymphocytic leukaemia, accounting for approximately 50% of double-disease patients. We compared the quantity of unsorted bone marrow cell-derived JAK2^V617F and KIT^D816V alleles with the quantity of the lymphoid/plasmacytoid compartment and analysed a subfraction of cases with fluorescence in situ hybridisation. Although a common aberrant progenitor has been reported in some cases in the literature, we found evidence of two independent chronic-stage myeloid and lymphoid/plasmacytoid neoplasms.

同一患者同时罹患两种慢性期髓系与淋巴系/浆细胞样肿瘤的情况较为罕见，此类病例占所有患者的比例不超过1%。目前尚无系统分析明确哪些肿瘤组合更为常见或罕见，也未阐明同一患者同时发生的两种疾病究竟是克隆相关，还是属于独立发生的病变。为此，我们对本中心存档的一系列病例（n = 65）进行了特征分析，并收集了此前已报道的髓系与淋巴系/浆细胞样肿瘤共发患者的大量病例（n = 185）。最常见的肿瘤组合为费城染色体（Philadelphia chromosome）阴性骨髓增殖性肿瘤合并B细胞慢性淋巴细胞白血病，此类病例约占双重肿瘤患者总数的50%。我们对比了未分选骨髓细胞来源的JAK2^V617F与KIT^D816V等位基因的拷贝数与淋巴系/浆细胞样细胞群的占比，并对部分病例开展了荧光原位杂交（fluorescence in situ hybridisation, FISH）分析。尽管已有文献报道部分病例存在共同的异常祖细胞，但本研究结果显示存在两种独立的慢性期髓系与淋巴系/浆细胞样肿瘤。