A Rare Case of Primary Plasma Cell Leukaemia with Monosomy X

Abstract

A 44-year-old female with history of Type II diabetes mellitus and severe anaemia presented to emergency department with vomiting, nausea and abdominal pain. General examination revealed severe pallor and systemic examination revealed hepatosplenomegaly. There was no lymphadenopathy. Laboratory data showed haemoglobin 6.5 gm%, WBC count was 20x103/µl, peripheral smear examination showed rouleaux formation with microcytes hypochromia and anisopoikilocytosis with 40% plasma cells and 27% plasmablasts [ Liver and renal function tests showed hypoalbuminaemia, hyperuricaemia and hyperphosphataemia, blood urea 106 mg/dl, serum creatinine 4.8 mg/dl, serum calcium 12 mg/dl, Lactate Dehydrogenase (LDH) 450U/l, ESR 36 mm/hr, and B2 microglobulin>20,000 ng/ml. Serum protein electrophoresis showed a monoclonal band in the gamma region. X-ray of skull and spine showed only osteoporosis and did not show any osteolytic lesions. Bone marrow aspiration and biopsy were performed. Aspirate revealed diluted sinusoidal blood. Bone marrow biopsy showed mostly cortical bone with small groups of plasma cells amidst few erythroid series cells [ AbSTRACTPrimary Plasma Cell Leukaemia (pPCL) is a very rare and aggressive subtype of plasma cell dyscrasias with a very poor outcome and characterized by presence of >2x10 9 /l circulating plasma cells. Overall incidence being 1%-2% of all malignant plasma cell diseases and 0.9% of all acute leukaemias. Patients with primary and secondary PCL have similar clinical features but differences do exist. Here we report a rare and interesting case diagnosed as primary PCL in a 44-year-old female with unusual clinical presentation and complex karyotyping. Her serum electrophoresis showed a monoclonal IgG component and immunohistochemistry of bone marrow plasma cells showed CD 38 positive and CD 20 negative. The patient initially responded partially for combination chemotherapy, but succumbed after 20 days of diagnosis. We are presenting this case to highlight the importance of early diagnosis of such haematological malignancies in settings where treatment options like stem cell transplantation are limited. abnormality i.e., hyperploidy with monosomy X(51,XO). The following abnormalities were noted: 51,X,-Xadd(4)(p16),+5,del(6)(q21),+7,+8,add(8)(q24)x2,+del(9) (p11),+12,dict(1;12)(p11;q24),+19,-22,+mar [Table /Fig-4].Our patient was diagnosed to have primary PCL based on the findings of peripheral smear, bone marrow biopsy, serum electrophoresis and cytogenetic analysis. After first cycle of chemotherapy, plasma cell count reduced to 25% and plasmablasts to 12%. Later, her conditions deteriorated and succumbed within 20 days of diagnosis due to uraemic encephalopathy. Consent was not given for clinical autopsy by patient's relatives. DISCUSSIONPCL is defined as a clonal proliferation of plasma cells first diagnosed in the leukaemic phase [1]. The first cases of PCL were first described in a 63-year-old woman at autopsy, who had widespread infiltration of plasma cells in multiple organs and a 47-year-old...