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PubMed1992

Inversion of chromosome 16 with the Philadelphia chromosome in acute myelomonocytic leukemia with eosinophilia. Report of two cases.

Two cases are described with the rare combination of inv(16)(p13q22), strongly associated with acute myelomonocytic leukemia with eosinophilia, M4Eo, and the Philadelphia translocation, t(9;22)(q34;q11), hallmark of chronic myeloid leukemia (CML) and rarely found, (less than 1%), in acute nonlymphocytic leukemia. The patients were: case 1, a 9-year-old girl presenting with a white blood cell count (WBC) 42 x 10(9)/L with 32% blasts and bone marrow with blasts and eosinophil precursors consistent with M4Eo, and case 2, a 25-year-old man with WBC 34.7 x 10(9)/L with 13% blasts and bone marrow with features of M4Eo and basophilia. Both patients achieved remission but died following bone marrow transplantation in first remission (case 1) or in relapse (case 2). Cytogenetic findings were: case 1, at diagnosis, 46,XX,inv(16)(p13q22)(21)/46,XX,t(9;22) (q34;q11),inv(16)(8)/46,XX(10), and case 2, at diagnosis, 46,XY,t(9;22) (q34;q11),inv(16)(p13q22) (16) and in remission, 46,XY,t(9;22)(q34;q11) (1)/46,XY (24). Investigation of the breakpoint on 22 in case 1 with Southern blotting and the polymerase chain reaction demonstrated the presence of a p190 mRNA and a breakpoint typical of acute leukemia. Thus a diagnosis of M4Eo was supported by clinical and cytogenetic sequelae in each case; the Ph in case 1 was apparently secondary to inv(16), in case 2 the Ph probably preceded inv(16) in the etiology of the leukemia.

Adult↗
PubMed1994

Paracentric inversion of chromosome 3 (q21q26) in a patient with chronic myelomonocytic leukemia and a normal platelet count.

Clonal chromosomal abnormalities occur in about one-third of patients with chronic myelomonocytic leukemia (CMMoL) and are usually those found in other myelodysplastic syndromes. Abnormalities of chromosome 3, which have been associated with abnormal thrombopoiesis, are relatively uncommon. A patient with CMMoL with inv(3)(q21q26) and normal thrombopoiesis is presented, and the cytogenetics of CMMoL are reviewed. The possible significance of chromosome 3 in thrombopoiesis is discussed.

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PubMed2005

Inherited pericentric inversion of chromosome 16 in chronic phase of chronic myeloid leukaemia.

The simultaneous occurrence of two specific acquired chromosomal abnormalities in chronic or acute leukaemias is rare. Inherited chromosomal abnormalities are also rare events in the general population. In chronic myeloid leukaemia (CML), characterised by the t(9;22)(q34;q11), the inv(16)(p13q22) has been described associated with the acceleration of disease or onset of blast crisis. We report on a patient with chronic phase of CML and both acquired t(9;22)(q34;q11) and inherited inv(16)(p13q22), who obtained a complete remission of the disease after bone marrow transplant. Therefore, it is worth to comment that an additional chromosomal abnormality in disease does not obligatory mean transformation of the disease to a more aggressive form, since chromosomal abnormalities are also seen in normal individuals.

Adult↗
PubMed1997

Pericentric inversion of chromosome 16 and eosinophilia in chronic myelomonocytic leukemia.

We report a case of myelodysplastic syndrome with bone marrow eosinophilia and the chromosomal abnormality, inv(16)(p13q22). Hematologic findings including monocytosis and trilineage myelodysplasia were consistent with chronic myelomonocytic leukemia, and numerous abnormal eosinophils were present in the bone marrow. Chromosomal analysis of all metaphase cells from peripheral blood and bone marrow revealed in(16)(p13q22), which is well known characteristic of acute myelomonocytic leukemia with eosinophilia (M4Eo). Both monocytes and eosinophils in this case may be derived from common leukemic progenitors affected by inv(16)(p13q22).

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