A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia

Abstract

The translocation t(8;16) (p11;p13) was found as the sole deviation from the normal karyotype in three patients with acute monocytic leukaemia. The bone marrow morphology was strikingly similar in the two cases where smears were available for re-evaluation: the leukaemic cells showed signs of differentiation, and active erythrophagocytosis was a particularly conspicuous feature. We suggest that t(8;16) (p11;p13) represents a new consistent abnormality in acute monocytic leukaemia, specifically associated with the differentiated subtype (M5b) and with pronounced phagocytic activity by the leukaemic monocytes.

AML with translocation t(8;16)(p11;p13) demonstrates unique cytomorphological, cytogenetic, molecular and prognostic features

“…44,45 With respect to the gender distribution, female patients represented 69% in our series (9/13 patients) which is supporting data from a previous study where 67% of cases were women. 9 We further could confirm the poor prognosis reported previously, 34,35,[44][45][46] as patients from our series demonstrated a median survival of 4.7 months only. For some part this negative outcome might be explained by the high incidence of t-AML cases in cases of t(8;16) with 54% in our cohort.…”

t(6;8), t(8;9) and t(8;13) translocations associated with stem cell myeloproliferative disorders have close or identical breakpoints in chromosome region 8p11-12

“…This 8p11-12 myeloproliferative disorder is phenotypically distinct from acute monoblastic and myelomonocytic leukemia with t(8;16)(p11;p13) (Bernstein et al, 1987;Heim et al, 1987;LaõÈ et al, 1987;Mitelman and Heim, 1992;Stark et al, 1995;Rodrigues Pereira Velloso et al, 1996;Sainati et al, 1996), and with t(8;22)(p11;q13) (LaõÈ et al, 1992), respectively. In addition, the breakpoints of t(8;16) and t(8;22) are dierent from each other, and are both localized centromeric to the breakpoint involved in MPD.…”

“…The short arm of chromosome 8, region p11-12, is involved in reciprocal translocations in acute myeloid leukemia (AML), subtype M5, and myelomonocytic leukemias with t(8;14) (p11;q11.1) (Slovak et al, 1991), t(8;22)(p11;q13) (LaõÈ et al, 1992), and t(8;16)(p11;p13) (Bernstein et al, 1987;Heim et al, 1987;LaõÈ et al, 1987;Mitelman and Heim, 1992;Stark et al, 1995;Rodrigues Pereira Velloso et al, 1996;Sainati et al, 1996), respectively. In the latter, the 8p11 gene involved, MOZ (monocytic leukemia zinc ®nger protein), has been identi®ed recently (Borrow et al, 1996).…”

A new gene, BCM, on chromosome 16 is fused to the interleukin 2 gene by a t(4;16)(q26;p13) translocation in a malignant T cell lymphoma.

“…In fact, cells from acute myelomonocytic leukaemia with eosinophilia (M4 EO), frequently exhibit a pericentric inversion invl6(pl3;q22) (Le Beau et al, 1983;Sandberg, 1990) and more rarely a t(16; 16)(pl3;q22) translocation. A t(8; 16)(pl ;pl3) translocation has also been reported in acute monocytic leukaemia (M5) (Heim et al, 1987;Lai et al, 1987;Sandberg, 1990). Though it has recently been shown that the invl6(pl3;q22) and the t(8;16)(pll;pl3) translocation breakpoints occur in two different loci (Wessels et al, 1991), it will be of interest to test whether at least one of these breakpoints might implicate the new gene rearranged by the t(4;16)(q26;pl3) translocation.…”