Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh 221005, India.
Department of Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
Cancer Genet. 2023 Aug;276-277:12-16. doi: 10.1016/j.cancergen.2023.05.002. Epub 2023 May 27.
Myelodysplastic syndrome (MDS) is a group of acquired clonal disorders characterized by dysplastic and ineffective hematopoiesis in the bone marrow. Various specific karyotypic and molecular abnormalities associated with MDS further guide the prognosis. Although translocation t(9;22)(q34;q11) (Philadelphia positive [Ph+]) and corresponding BCR-ABL fusion transcript are classically defined to differentiate CML from non-CML myeloproliferative disorders, it is also associated with adult acute lymphoblastic leukemia (Ph+ ALL), acute myeloid Leukemia (Ph+ AML), myelodysplastic syndrome (Ph+ MDS). The occurrence of Ph+ MDS is very uncommon, and a review of literature has shown by far 40 cases so far in which the majority are seen on progression to Leukemia. Few had de novo presence of such chromosomal abnormality. Due to its rarity, this entity has not yet found its space in the current WHO classification. Also, the role of tyrosine kinase inhibitors in such a scenario is still debatable. We found two such cases of de novo Ph+ MDS diagnosed at institute of medical sciences, Banaras Hindu university and a brief literature review.
骨髓增生异常综合征(MDS)是一组后天获得的克隆性疾病,其特征为骨髓中造血细胞发育不良和无效。与 MDS 相关的各种特定核型和分子异常进一步指导预后。虽然易位 t(9;22)(q34;q11)(费城阳性[Ph+])和相应的 BCR-ABL 融合转录本被经典地定义为区分 CML 与非 CML 骨髓增生性疾病,但它也与成人急性淋巴细胞白血病(Ph+ ALL)、急性髓系白血病(Ph+ AML)和骨髓增生异常综合征(Ph+ MDS)相关。Ph+ MDS 的发生率非常罕见,迄今为止,文献综述共报道了 40 例,其中大多数是在进展为白血病时出现的。少数患者存在这种染色体异常的初发表现。由于其罕见性,这种疾病尚未在当前的世界卫生组织(WHO)分类中找到自己的位置。此外,酪氨酸激酶抑制剂在这种情况下的作用仍存在争议。我们在 Banaras Hindu 大学的医学科学研究所发现了两例初发的 Ph+ MDS 病例,并进行了简要的文献复习。