Rabade Nikhil, Raval Goutham, Chaudhary Shruti, Subramanian P G, Kodgule Rohan, Joshi Swapnali, Tembhare Prashant, Hasan Syed K, Jain Hasmukh, Sengar Manju, Narula Gaurav, Banavali Shripad, Kadam Pratibha Amare, Shetty Dhanalaxmi, Gujral Sumeet, Patkar Nikhil
Hematopathology laboratory, Department of Pathology, Tata Memorial Centre, Mumbai.
Department of Medical Oncology, Tata Memorial Centre, Mumbai.
Mediterr J Hematol Infect Dis. 2018 Jan 1;10(1):e2018002. doi: 10.4084/MJHID.2018.002. eCollection 2018.
Atypical breakpoints and variant APL cases involving alternative chromosomal aberrations are seen in a small subset of acute promyelocytic leukemia (APL) patients. Over seven different partner genes for RARA have been described. Although rare, these variants prove to be a diagnostic challenge and require a combination of advanced cytogenetic and molecular techniques for accurate characterization. Heterogeneity occurs not only at the molecular level but also at clinico-pathological level influencing treatment response and outcome. In this case series, we describe the molecular heterogeneity of APL with a focus on seven variant APL cases from a single tertiary cancer center in India over a period of two and a half years. We discuss five cases with fusion and two novel variants, including a Bcr3 variant involving fusion of exon4 and exon3 with an additional 40 nucleotides originating from intron2, another involving exon 6 of and exon 3 of with addition of 126 nucleotides, which mapped to the central portion of intron 2. To the best of our knowledge, this is the first case series of this kind from India.
在一小部分急性早幼粒细胞白血病（APL）患者中可见非典型断点和涉及其他染色体畸变的变异型APL病例。已描述了超过七种RARA的不同伙伴基因。尽管罕见，但这些变异型给诊断带来了挑战，需要结合先进的细胞遗传学和分子技术进行准确鉴定。异质性不仅出现在分子水平，也出现在临床病理水平，影响治疗反应和结果。在本病例系列中，我们描述了APL的分子异质性，重点关注印度一家单一三级癌症中心在两年半时间内的七例变异型APL病例。我们讨论了五例具有 融合的病例和两例新型变异型，包括一种Bcr3变异型，涉及 外显子4和 外显子3的融合，并带有另外40个源自 内含子2的核苷酸，另一例涉及 的外显子6和 的外显子3，并添加了126个核苷酸，这些核苷酸定位于 内含子2的中部。据我们所知，这是来自印度的首例此类病例系列。
