Baldazzi Carmen, Luatti Simona, Marzocchi Giulia, Grassi Alessandra, Cavo Michele, Testoni Nicoletta
IRCCS Azienda Ospedaliero-Universitaria di Bologna, Istituto di Ematologia "Seràgnoli", Bologna, Italy.
IRCCS Azienda Ospedaliero-Universitaria di Bologna, Istituto di Ematologia "Seràgnoli", Bologna, Italy.
Cancer Genet. 2022 Apr;262-263:35-39. doi: 10.1016/j.cancergen.2021.12.006. Epub 2021 Dec 22.
The translocation t(5;12)(q31;p13)/ETV6::ACSL6 is a rare cytogenetic abnormality, although it is reported in various myeloid malignancies. To date, only 16 cases of t(5;12) and ETV6::ACSL6 rearrangement, confirmed by either molecular or Fluorescence In Situ Hyridization (FISH) analysis, have been reported. Eosinophilia is a distinctive and common feature associated with this rearrangement. Although few cases have been described, the prognosis of patients with ETV6::ACSL6 is considered poor. We report two additional cases of t(5;12)(q31;p13)/ETV6::ACLS6 rearrangement and eosinophilia. Unusually, in our cases, the ETV6::ACSL6 rearrangement occurred at the relapse of Acute Myeloid Leukemia (AML) patients who had t(6;9)(p23;q34)/DEK::NUP214 rearrangement at disease onset. The concurrence of these two rare abnormalities has never been reported and may suggest a cooperative role of t(5;12) and t(6;9), leading to disease relapse. Moreover, at relapse, both cases presented with eosinophilia, further strengthening the association of t(5;12) with eosinophilia in myeloid malignancies. Given the poor prognosis and the non-responsiveness to tyrosine kinase inhibitors of cases of ETV6::ACSL6 rearrangement, in contrast to cases of ETV6::PDGFRB rearrangement, we recommend the introduction of testing for this abnormality in myeloid malignancies with eosinophilia.
易位t(5;12)(q31;p13)/ETV6::ACSL6是一种罕见的细胞遗传学异常，尽管在各种髓系恶性肿瘤中都有报道。迄今为止，经分子或荧光原位杂交（FISH）分析证实的t(5;12)和ETV6::ACSL6重排病例仅有16例报道。嗜酸性粒细胞增多是与这种重排相关的一个显著且常见的特征。虽然描述的病例很少，但ETV6::ACSL6患者的预后被认为很差。我们报告另外两例t(5;12)(q31;p13)/ETV6::ACLS6重排和嗜酸性粒细胞增多的病例。不同寻常的是，在我们的病例中，ETV6::ACSL6重排出现在急性髓系白血病（AML）患者复发时，这些患者在疾病初发时存在t(6;9)(p23;q34)/DEK::NUP214重排。这两种罕见异常的同时出现从未有过报道，可能提示t(5;12)和t(6;9)具有协同作用，导致疾病复发。此外，在复发时，两例患者均出现嗜酸性粒细胞增多，进一步强化了t(5;12)与髓系恶性肿瘤中嗜酸性粒细胞增多的关联。鉴于ETV6::ACSL6重排病例预后较差且对酪氨酸激酶抑制剂无反应，与ETV6::PDGFRB重排病例不同，我们建议在伴有嗜酸性粒细胞增多的髓系恶性肿瘤中开展针对这种异常的检测。
