UDMGC, Oncohematological Cytogenetics Department, Hospital Universitari Son Espases, Palma, Balearic Islands, Spain.
Cancer Research Center, Institute of Cancer Molecular and Cellular Biology, University of Salamanca-National Research Council (CiC-IBMCC, CSIC/USAL), Salamanca, Spain; Hematology Department, University Hospital of Salamanca, Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain.
Cancer Genet. 2022 Jun;264-265:60-65. doi: 10.1016/j.cancergen.2022.03.004. Epub 2022 Mar 26.
Cytogenetic studies have played a crucial role in the discovery of genes involved in several diseases. In the field of oncohematology, cytogenetics is still necessary for the classification and prognosis of many diseases. Here we report a new recurrent chromosome translocation, t(10;12)(q24;q15), in two patients with different hematological malignancies: myelodysplastic syndrome with excess blasts (MDS-EB), and myelofibrosis (MF) secondary to essential thrombocythemia (ET). The chromosome alteration was observed as a sole karyotype change in the patient with MDS-EB, both at the initial diagnosis and following progression to MDS-EB2. A putative HMGA2-KLLN rearrangement by RNA-sequencing was detected in this patient. The patient with ET, had a normal karyotype at diagnosis and the t(10;12)(q24;q15) translocation emerged as a sole cytogenetic alteration after transformation, and when MF was evident. We reviewed the literature to determine whether this chromosome abnormality had previously been described in other hematological patients and found two cases: an aggressive T-cell lymphoblastic lymphoma (T-LBL) and a case of transformed chronic myeloproliferative syndrome (CMS), in both of which t(10;12)(q24;q15) was also the only karyotype change. The clinical evolution of all four cases suggested that t(10;12)(q24;q15) is associated with a poor outcome in oncohematological patients.
细胞遗传学研究在发现涉及多种疾病的基因方面发挥了至关重要的作用。在血液肿瘤学领域，细胞遗传学对于许多疾病的分类和预后仍然是必要的。在这里，我们报告了两位具有不同血液恶性肿瘤患者中的一种新的染色体易位，t(10;12)(q24;q15)：骨髓增生异常综合征伴原始细胞增多（MDS-EB）和继发于原发性血小板增多症（ET）的骨髓纤维化（MF）。该染色体改变在 MDS-EB 患者中仅作为单一核型改变观察到，无论是在初始诊断时还是在进展为 MDS-EB2 时。通过 RNA 测序检测到该患者存在 HMGA2-KLLN 易位。ET 患者在诊断时具有正常核型，并且在转化后和 MF 明显时，t(10;12)(q24;q15)易位仅作为单一细胞遗传学改变出现。我们回顾了文献，以确定这种染色体异常是否以前在其他血液学患者中描述过，并发现了两例：侵袭性 T 细胞淋巴母细胞淋巴瘤（T-LBL）和转化慢性骨髓增生性综合征（CMS），在这两种情况下，t(10;12)(q24;q15)也是唯一的核型改变。所有四个病例的临床演变表明，t(10;12)(q24;q15)与血液肿瘤患者的不良预后相关。
