The Philadelphia chromosome is a reciprocal translocation of some segment of chromosome 9 and chromosome 22 in a balanced manner, genes were involved in the BCR region (breakpoint cluster) for chromosome 22 and ABL (Abelson protooncogene) gene involved in chromosome 9. Chromosome 22 is smaller in size after translocation so clearly visible in the naked eye, whereas chromosome 9 is larger and cannot be seen the translocation well in nacked eye. It is associated with a particular human cancer, chronic myelogenous leukemia (CML), the BCR-ABL fusion transcript. It was first identified in leukemia in 1960 as an abnormally small chromosome present in 95% of CML cases.1 There are three distinct clinical stages characterized by World health organization in chronic myeloid leukemia: chronic phase, accelerated phase, and blast crisis.
Myelodysplastic syndrome (MDS) is a clonal condition of bone marrow pluripotent stem cells and it is groups of myeloid diversify malignancies. MDS estimates the actual disease burden and its impact on the Indian and worldwide populations. Genetics plays pivotal role in diagnosis and prognostic of most malignancies. MDS is produce by a single cell's clonal growth that has acquired a somatic mutation in one allele of a normally functioning gene that regulates cellular maturation and division. Cytogenetic abnormalities are common in advanced cancers, and tumor-specific chromosomal translocations, like translocations and other genetic abnormalities, directly contribute to malignant transformation. Chromosomal anomalies known in MDS include del 11q, -Y, der (1;7), del (5q), del(12p), and del(20q) which forms transcriptionally active regions. Myelodysplastic syndrome symptoms include shortness of breath and fatigue. In myelodysplastic syndrome with single lineage dysplasia, they affect a single type of blood cell. These patient have low numbers of RBC, WBC, and platelets also called anemia, neutropenia, and thrombocytopenia. Specific mutations related with morphologic characteristics and MDS include the SF3B1 mutation, which is associated with ring sideroblasts, and mutations in ASXL1, RUNX1, TP53, and SRSF2.2 There is a reciprocal translocation involving chromosome 22 BCR region (breakpoint cluster) and chromosome 9 ABL1 gene (Abelson protooncogene) with results in the formation of fusion oncogene, which encodes chimeric protein BCR-ABL1. The molecular weight of this fusion protein varies from 185 to 210 kDa depending on the precise region of fusion (clinically significant variants are p190, p210, and p230 isoforms) 3. p190 has been linked to B cell ALL, whereas p210 has been linked to CML. Still, both can occur in AML and ALL, while p230 is associated with CML with neutrophilia (CML-N)4. Ph + MDS is rarely reported in the literature, but its presence in prognosis and treatment is not yet defined. The myelodysplastic syndrome can develop after treatment or environmental exposure to radiation, toxins, or chemotherapeutic agents. Usually, the patient remains asymptomatic for a long time before diagnosis. Chromosome loss or deletion is a common cytogenetic abnormality like 5 or 7, del 20q, a gain of function of chromosome 8. Conventional karyotyping for the Philadelphia chromosome is not routinely done in such patients. Still, few case reports have shown its association with acute leukemia progression.5 here we reported two de novo Ph + MDS cases.