An Isodicentric (X)(q13) abnormality- A chromosomal abnormality Case report

An Isodicentric (X)(q13) abnormality

Abstract

Recurring chromosomal abnormalities are involved in the pathogenesis of hematologic malignancies and are important indicators for diagnosis and prognosis. An isodicentric X chromosome with breakpoints in Xq13 [idic(X) (q13)] is a rare but recurrent abnormality in myeloid malignancies.
This chromosomal anomaly has been demonstrated exclusively in females, typically of advanced age. The fact that idic(X) (q13) often occurs as the sole cytogenetic abnormality suggests that it may itself be sufficient for leukemogenesis. However, the pathogenetic outcome of this chromosomal anomaly remains unknown. Herein we describe a patient presented with left abdominal discomfort due to underlying massive splenomegaly. Peripheral blood smear and bone marrow biopsy findings were consistent with underlying myeloproliferative/myelodysplastic neoplasm.
Cytogenetic test showed the presence of isodicentric (X)(q13). Molecular assessment for BCR-ABL and JAK2 mutational study were negative. Patient is treated with hydroxyurea, thalidomide and prednisolone. There was no sibling available for transplant. Her clinical condition worsened over the past year with the increasing usage of blood components together with the progression of total white cells count and blast cells count.