Agarwal Akanksha, Jain Mili, Tewari Shikha, Goel Madhumati, Kumar Ashutosh
Department of Pathology, King George Medical University, Lucknow, Uttar Pradesh, India.
Natl Med J India. 2020 May-Jun;33(3):146-148. doi: 10.4103/0970-258X.314004.
Acute myeloid leukaemia (AML) is a heterogeneous disease due to its variable clinical, morphological and genetic features. New chromosomal and molecular abnormalities are being studied to evaluate novel treatment options and prognostic implications. We report a patient with AML who was Philadelphia chromosome-positive along with IDH1R132 mutation and SNP rs11554137(IDH1). Due to limited reports regarding these aberrations in patients with AML, there is no consensus regarding their prognostic implications. To the best of our knowledge, the presence of Philadelphia chromosome, IDH1R132 and SNP rs11554137 in a single AML patient with good prognosis is a novel finding.
急性髓系白血病（AML）是一种异质性疾病，因其临床、形态学和遗传学特征各不相同。目前正在研究新的染色体和分子异常情况，以评估新的治疗方案及其对预后的影响。我们报告了一名患有急性髓系白血病的患者，该患者费城染色体呈阳性，同时伴有异柠檬酸脱氢酶1（IDH1）R132突变和单核苷酸多态性rs11554137（IDH1）。由于关于急性髓系白血病患者中这些畸变的报告有限，因此对于它们对预后的影响尚无共识。据我们所知，在一名预后良好的急性髓系白血病患者中同时存在费城染色体、IDH1 R132和单核苷酸多态性rs11554137是一项新发现。
