Authors: Sule Unal Mualla Cetin Nuket Yurur Kutlay Selin Aytac Elmas Fatma Gumruk Ajlan Tukun Murat Tuncer Aytemiz Gurgey
Publish Date: 2009/10/02
Volume: 89, Issue: 4, Pages: 359-364
Abstract
The aim of this study was to describe the characteristics and outcome in a group of pediatric patients with hematological malignancies who developed hemophagocytosis at diagnosis or during the disease course Eight patients with hematological malignancy and associated hemophagocytosis were included The initial diagnosis was juvenile myelomonocytic leukemia JMML in five nonlymphoblastic leukemia ANLL in two and Tcell lymphoma associated with myeloproliferative syndrome in one patient Hemophagocytosis was concomitantly present at the time of diagnosis of the primary disease in four of the five patients with JMML and in the two patients with ANLL Three had abnormalities related to chromosome 8 trisomy 8 monosomy 8 and t 813 p11 p12 and one had inversion 16 Multiple chromosomal losses were present in one patient including both chromosomes 8 and 16 Bone marrow karyotyping revealed 46 XX 47 XXX mosaicism in one patient Two patients had PTPN11 mutation and one patient kRAS mutation The patients with JMML and neurofibromatosis n = 2 the patient with lymphoma and t 813 positive AML and a fourth patient with PTPN11 mutation did not remit and had unfavorable outcomes
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