Abstract

Introduction: Chronic myeloid Leukaemia is a form of Myeloproliferative neoplasm associated with recurrent (9,22) chromosomal translocation and formation of BCR-ABL fusion gene. Here we report a case of CML diagnosed in a 36 year old male with features of Poland syndrome, and skin lesions cytologically suggestive of Myeloid Sarcoma. It was an accidental diagnosis by fine needle aspiration in a case of clinically suspected lipomatosis.

Case Report: A 36 year old male presented with few soft nodular lesions of recent onset in the lumbosacral region without any other apparent symptom and a clinical diagnosis of Lipomatosis. Fine needle aspirate revealed myeloblasts and immature myeloid progenitors admixed with necrosis and fat. History and clinical examination showed that basically the patient is a case of Poland syndrome with congenital absence of Right sided pectoralis major and hypoplastic right upper limb. Associated finding was a huge splenomegaly.

Blood was drawn in the next visit and peripheral blood picture was that of florid Chronic Myeloid Leukaemia. The necrosis intimately mixed with myeloblasts and myeloid precursors; present on the aspirate of the skin lesions, points towards a case of myeloid sarcoma in the background of CML. Otherwise the aspiration findings could be easily explained as mere blood elements drawn from dermal blood vessels in a patient of CML. 

However, before histo-pathological confirmation and other ancillary investigations were done; the patient was referred to higher centre and further follow up was not possible.

Conclusion: The overall diagnosis was chronic myeloid Leukaemia with skin lesions cytologically suggestive of myeloid Sarcoma in a case of Poland Syndrome. The patient was referred to higher centre dedicated to Hematology for genetic analysis and initiation of therapy.

Keywords: Poland syndrome, chronic myeloid leukemia, myeloid sarcoma