Successful bone marrow transplant for Fanconi anaemia in transformation.

We present a patient who was diagnosed as suffering from Fanconi anaemia at the age of 36 years. At the time of diagnosis his bone marrow showed features of pre-leukaemic transformation. He received an allogeneic bone marrow transplant (BMT) from his HLA-identical sibling. The post-transplant course was unremarkable with evidence of trilineage engraftment at day +32 and no acute or chronic GVHD. He is well with sustained engraftment and no haematological evidence of Fanconi anaemia 18 months post-transplant.

Rearrangement of the bcr gene in Philadelphia chromosome-negative chronic myeloid leukemia.

We studied the clinical, hematologic, cytogenetic, and molecular biologic features of seven patients with Philadelphia (Ph1) chromosome-negative chronic myeloid leukemia (CML). In five cases the hematologic findings were indistinguishable from those of patients with classical Ph1-positive disease. Myeloid cells were studied by chromosome-banding techniques. One patient had a masked Ph1 chromosome (with translocation t(4;9;22)), one had a deletion involving chromosome 16, and one had a small minority population of 22q- cells without 9q+ but otherwise normal metaphases; metaphases from the other four patients were entirely normal. DNA prepared from the myeloid cells was digested with the restriction enzymes EcoRI, HindIII, BamHI and BglII. Southern analysis using a 0.6-kb fragment of the breakpoint cluster region (bcr) gene showed the presence in each patient's DNA of a germline fragment together with a rearranged fragment or fragments with at least one of the restriction enzymes. We conclude that genomic changes in the bcr gene characteristic of CML can be present in the absence of a Ph1 chromosome.

Non-Hodgkin's lymphoma: a survey from a district general hospital.

We report a retrospective survey of 167 patients with non-Hodgkin's lymphoma (NHL) seen at a district general hospital between 1 August 1971 and 1 August 1983. Details of their clinical presentation, histology, therapy, response rates and survival are presented. The patient population reported is generally older than that seen at specialist centres and has a greater proportion of tumours with low-grade histology. Whereas specialist centres see a pre-selected population of patients, our data may be from a more representative group and this gives a truer incidence of this disease in the general population. The remission rates and overall survival of our patients are comparable to those achieved at specialist centres. We conclude that it is both feasible and desirable for patients with NHL to be assessed and treated in a district general hospital with a radiotherapy department.

Complete recovery of histiocytic medullary reticulosis-like syndrome in a child with acute lymphoblastic leukemia.

A 6-year-old boy with acute lymphoblastic leukemia (ALL) developed a haemophagocytic syndrome resembling histiocytic medullary reticulosis (HMR) but made a complete recovery on supportive treatment. This was subsequently found to have been associated with a parainfluenzal infection. It is suggested that HMR in immunocompromised hosts may represent a reactive process to an opportunistic viral infection and that the use of chemotherapy in these patients may be deleterious.

Megakaryoblastic leukemia presenting as acute myelofibrosis -- a study of four cases with the platelet-peroxidase reaction.

Acute myelofibrosis (AM) or malignant myelosclerosis is a myeloprofilerative syndrome in which bone marrow fibrosis is associated with a proliferation of immature myeloid cells. In four patients with typical AM, investigated by the platelet-peroxidase reaction at ultrastructural level, the blast cells were found to be megakaryoblasts. One patient, treated with the drug combination DAT, achieved a complete remission of 5 mo duration. This study supports the view that megakaryoblastic leukemia is the most frequent underlying cause of AM and proposes that it should be classified as a form of acute myeloid leukemia.

'Prolymphocytoid' transformation of chronic lymphocytic leukaemia.

We report clinical, morphological and surface marker studies on seven patients with the common type of chronic lymphocytic leukaemia (CLL) whose disease underwent an insidious though progressive change in character with increasing refractoriness to treatment. This transformation was accompanied by the appearance of a population of immature-appearing cells in the peripheral blood which resembled prolymphocytes, both at light and electron microscopy. The characteristic morphological feature was the presence of two distinct populations of cells, the typical CLL lymphocytes and the 'prolymphocytoid' cells. These cells retained the surface characteristics of CLL, i.e. the information of mouse RBC rosettes and sparse surface-bound immunoglobulin. This transformation can be distinguished by morphological and surface marker criteria from acute leukaemia occurring in CCL, Richter's syndrome and prolymphocytic leukaemia. The recognition of this group of CLL patients may add a new prognostic index to CLL and may help plan subsequent trials for the treatment of the disease.