Acute myelogenous leukemia in a child with primary involvement of chromosomes 11 and X

Abstract

The chromosomes of a case of acute myelogenous leukemia in an infant of 7 months were analyzed by means of high resolution banding achieved without mitotic synchronization. The analyses were based on 2 cell samples taken, (1) at diagnosis before treatment, and (2) 3 months later during partial remission, before the onset of the terminal phase. All cells of both samples contained 2 deviating chromosomes resulting from rearrangements of X at q22 and of 11 at p13, p15 and q23. Twenty‐seven per cent of the cells of the first sample and 51 % of the second sample in addition had an inverted (mirror) duplication of the “variable” region of the long arm of chromosome 1 (1q12). At the second fixation this cell clone had undergone further evolution leading to one clone with trisomy for the distal half of the short arm of chromosome 6 (6p21.2‐pter) and another clone with rep t(7;12) (q13;q15). The involvement of chromosome 11 in malignant blood disorders is discussed with special emphasis on acute nonlymphocytic leukemia of the childhood.

Identification of T-lymphocytic leukemia–initiating stem cells residing in a small subset of patients with acute myeloid leukemic disease

“…34 MLL fusion partners are very diverse and the leukemogenic program developed is influenced by the identity of the fusion partner, as well as by microenvironmental signals. 35,36 MLL-AFX1 is a rare translocation observed in both human AML [37][38][39][40] and T-ALL 41,42 ; in fact, it has been suggested that happens early in hematopoietic cells before commitment to distinct lineages. 41 MLL-AFX1-expressing NSG-engrafting AMLs produce a myeloid leukemia in humans, but induce a T-lymphoproliferative disorder in NOD/SCID IL2R␥c null mice, which could be explained based on the inability of human cells to recognize mouse myeloid factors, and by the existence of putative lymphoid signals in the NOD/SCID IL2R␥c null BM microenvironment that NOD/SCID and NOD/SCID ␤2 Ϫ/Ϫ mice may lack.…”

t(X;11)(q13;q23)

“…Peripheral leucocytes at diagnosis of this ALL case were cultured and are presently known as the KARPAS-45 cell line (Karpas et al, 1977). In addition, MLL/AFX1 fusion was confirmed in an AML case with highly complex change originally published involving the Xq22 locus (Nacheva et al, 1982;Parry et al, 1994;Borkhardtet al, 1997). Note This translocation has also been found in 2 cases of CLL (Bentz et al, 1995;Kalla et al, 2005).…”

dup(1)(q11-q44) in myeloid malignancies

“…Schoch et al, 2003;Palandri et al, 2009;Fabarius et al, 2011;Sun et al, 2011) and 1 AML (de Souza et al, 2000). t(15;17)(q24;q21) was found in 2 cases (Berger et al, 1988;Cuneo et al, 1992), 21q22 abnormalities in 5 (Raimondi et al, 1999;Kim et al, 2009;Jekarl et al, 2010) and 11q23 rearrangements in 4 AML patients (Nacheva et al, 1982;Harrison et al, 1998;Taylor et al, 2000;Clavio et al, 2001 ). Cytogenetic clonal variation with karyotypically unrelated clones was found in 5 MPN (RegeCambrin et al, 1987;Andrieux et al, 2003;Alfaro et al, 2008;Hild and Fonatsch 1990;Sun et al, 2011) and 2 AML patients (Alter et al, 2000;Strehl et al, 2001).…”