Three cases of typical aplastic anaemia associated with a Philadelphia chromosome

Abstract

Summary. We report three cases of typical aplastic anaemia (AA) associated with a Philadelphia chromosome. This translocation was detected at the time of diagnosis of AA (one patient) and when overt leukaemia was diagnosed (two patients: one chronic myeloid leukaemia and one acute lymphoblastic leukaemia) after AA therapy and recovery of blood counts. We discuss the literature arguments about considering some cases of AA as preleukaemic disorders and suggest that our cases illustrate the association of AA with a clonal malignant disorder. We conclude that cytogenetic analysis is necessary at diagnosis of AA or after recovery of blood counts.

The association of severe aplastic anaemia with the philadelphia chromosome and the bcr/abl transcript

“…The patient is now in complete haematological remission 20 months after diagnosis of aplastic anaemia with no need for cytoreductive therapy and a human leucocyte antigen (HLA)‐identical stem cell transplantation is planned. Our case is very similar to that reported by Suzan et al (2001) and the retrospective evaluation of the bcr/abl rearrangement coding for p210 (b3a2) clearly documented the presence of the neoplastic clone at diagnosis. We therefore strongly agree with Suzan et al (2001) on the need for cytogenetic analysis at diagnosis or after recovery phase of blood counts in patients with aplastic anaemia.…”

“…Our case is very similar to that reported by Suzan et al (2001) and the retrospective evaluation of the bcr/abl rearrangement coding for p210 (b3a2) clearly documented the presence of the neoplastic clone at diagnosis. We therefore strongly agree with Suzan et al (2001) on the need for cytogenetic analysis at diagnosis or after recovery phase of blood counts in patients with aplastic anaemia. Although aplastic anaemia patients with Philadelphia chromosome are probably rare and the rate of failure of cytogenetic analysis is expected to be very high at diagnosis, molecular assessment of the bcr/abl rearrangement should be investigated in aplastic anaemia.…”

“…We read with extreme interest the recent article by Suzan et al (2000), as we have observed a patient with striking similarities to those reported by them. A 59‐year‐old woman was admitted in June 1999 to our Department of Haematology with profound pancytopenia.…”

An unusual clonal cytogenetic abnormality with t(15;17)(p11;q21) in a patient with severe aplastic anemia

“…[124] Overall, the most common chromosomal abnormalities reported are trisomies of 6 and 8 and loss of chromosome 7. [14] Although unusual cytogenetics have been reported in patients with AA[56] including t(9;22) but t(15;17) has not been reported. The response to immunosuppressive therapy, durability of response, and progression to later clonal disorders in these patients did not appear to be different from patients with a normal karyotype though they might be at higher risk of progressing to myelodysplastic syndrome or acute myeloid leukemia.…”

Aplastic anaemia associated with a Philadelphia chromosome and monosomy 7 during immunosuppressive therapy

“…In particular, the long‐term administration of recombinant human granulocyte colony‐stimulating factor (G‐CSF) for aplastic anaemia is closely related to the evolution of MDS/AML with monosomy 7 that has been described earlier (2). On the diagnosis of aplastic anaemia, some aplastic anaemia patients have clonal cytogenetic abnormalities of bone marrow cells, whereas the acquisition of Ph 1 chromosome has rarely been observed in aplastic anaemia (3). Here, we describe a case of aplastic anaemia expressing Ph 1 chromosome and p210 bcr‐abl transcript.…”