Imatinib resistant chronic myelogenous leukemia, BCR-ABL positive by chromosome and FISH analyses but negative by PCR, in a child progressing to acute basophilic leukemia: cytogenetic follow-up.

The case of an 11-year-old child with adult-type chronic myeloid leukemia, Philadelphia (BCR-ABL) positive, reverse transcription-polymerase chain reaction negative for the major, minor, and micro breakpoints is presented. In the course of 3 years, the child failed to respond to treatment with hydroxyurea, refused all therapy for 6 months, was intolerant to alpha-interferon and progressed, while on imatinib, to acute basophilic leukemia. Subsequently he underwent successful bone marrow transplantation. A secondary cytogenetic clonal evolution, i(17q), developed during hydroxyurea treatment and a tertiary clonal evolution, +8, was detected during imatinib treatment. It is not clear to what extent the several factors (undefined BCR-ABL breakpoint, treatment avoidance, and initial treatment choices, alone or in combination) played a role in the imatinib relapse and resistance and in the disease progression. We conclude that close follow-up with frequent bone marrow sampling is crucial in order to monitor such patients for early relapse and prompt referral for bone marrow transplant.

Primary myelofibrosis terminated in basophilic leukemia and successful allogeneic bone marrow transplantation.

Transformation of primary myelofibrosis (PMF) to basophilic leukemia is very rare. We report the case of a 44-year-old man who had had PMF for 6 years. His hematopoiesis deteriorated with marked splenomegaly, requiring multiple red blood cell and platelet transfusions. Soon after splenectomy, progressive basophilia (32.3 x 10(9)/L) developed, infiltrating the skin as well as the bone marrow. The patient underwent allogeneic bone marrow transplantation with cells from an HLA-matched sibling. Despite the presence of hyperhistaminemia (99.1 ng/mL) after conditioning with cyclophosphamide, the pregrafting and post-grafting periods were uneventful. Prophylactic administration of both H1 and H2 receptor antagonists and sufficient hydration appeared to be important.

Patients receiving HLA-haploidentical/partially matched related allo-HSCT can achieve desirable health-related QoL that is comparable to that of patients receiving HLA-identical sibling allo-HSCT.

To investigate the health-related quality of life (HRQoL) of patients receiving allogeneic hematopoietic SCT (allo-HSCT) from HLA-haploidentical/partially matched related donors (HID/PMRD) and to compare this value with that of patients receiving allo-HSCT from HLA-identical sibling donor (ISD), a total of 350 patients receiving allo-HSCT were enrolled in a study (ISD: 173; HID/PMRD: 177). HRQoL post transplantation was evaluated by an SF-36 questionnaire. The effect of various factors on the HRQoL was analyzed through COX regression. Compared with the ISD group, patients in the HID/PMRD group had higher scores in physical functioning, general health, bodily pain, vitality and emotional role functioning, and these patients functioned significantly better on the physical and mental component summaries. Also, long-term survivors exhibit better HRQoL. Measured by multivariate analysis, extensive chronic GVHD was observed to have a strongly negative impact on patients' HRQoL, while male gender status, lower age when receiving allo-HSCT and returning to work or school were associated with positive impacts on at least one subscale. These results showed that the HRQoL of patients receiving HID/PMRD hematopoietic SCT (HSCT) is comparable to that of patients receiving ISD HSCT, and HLA disparity is not the factor affecting the HRQoL.