Abstract The hematological and clinical features of 26 patients with myelodysplasia and a chromosome 5q deletion in the bone marrow are presented. We have examined the relationship of French‐American‐British Co‐operative Group (FAB) 1982 classification and bone marrow karyotype at diagnosis with patient outcome and the presence or absence of the classical features of the 5q‐ syndrome. Those patients classified as refractory anemia (RA) with no additional karyotypic abnormalities have the typical features of the 5q‐ syndrome and a good prognosis. None of the patients in this group transformed to acute leukemia during the period of follow‐up. Patients with either refractory anemia and excess blasts (RAEB) or additional karyotypic abnormalities show many of the hematologic features of the 5q‐ syndrome but do not share the good prognosis. We conclude that the 5q‐ syndrome may be best defined as primary MDS of the FAB type RA with a 5q deletion as the sole karyotypic abnormality. This simple definition will distinguish patients with a good prognosis and all the classical features of the 5q‐ syndrome.

Refractory anemia

Abnormality

Hematology

10.1002/ajh.2830490304

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Citations (37)

Molecular characterization of the 7q deletion in myeloid disorders

British Journal of Haematology (1996)

Siân Lewis Gail Abrahamson Jacqueline Boultwood Carrie Fidler Alison Potter

Deletion of the long arm of chromosome 7 is a common karyotypic finding in myeloid disorders and in particular is found in association with secondary leukaemias. We have used restriction fragment length polymorphisms and gene dosage experiments to assess the loss or retention of sequences localized to chromosome 7q in five patients with clonal myeloid disorders and a 7q deletion. The deletion was interstitial in all cases with retention of the anonymous marker pS194 located at 7q36‐qter. Three out of five cases also retained the more proximal gene T‐cell receptor β (TCRβ) located at 7q35. The proximal breakpoints of all five cases were localized to 7q22 by cytogenetic analysis. In two cases the proximal breakpoint lay between the genes for elastin (ELN) and collagen type 1α (COL1A2) and in three cases distal to this region between the genes for erythropoietin (EPO) and acetylcholinesterase (ACHE). The genes for ACHE, plasminogen activator inhibitor 1 (PLANH1), CCAAT displacement protein (CUTL1) and Met proto‐oncogene (MET) were deleted in all cases. Molecular analysis of the 7q deletion in myeloid leukaemias demonstrates heterogeneity of the breakpoints, supporting a recessive mechanism of tumourigenesis.

Breakpoint

Gene rearrangement

10.1046/j.1365-2141.1996.4841025.x

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Citations (51)

A HIGHLY INFORMATIVE X‐CHROMOSOME PROBE, M27β, CAN BE USED FOR THE DETERMINATION OF TUMOUR CLONALITY

British Journal of Haematology (1990)

Gail Abrahamson Niall J. Fraser Yvonne Boyd Ian Craig James S. Wainscoat

Hematology

10.1111/j.1365-2141.1990.tb02601.x

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Citations (73)

An audit of the economic consequences of early JAK2 testing in the investigation of a raised haemoglobin

S.P. Moule Jessica Y. Hsu Lydia Eccersley Christopher Cotton Stephen Sandell

Source

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Citations (0)

PRACTICAL CONSIDERATIONS IN THE ANALYSIS OF CHROMOSOMAL DELETION BREAKPOINTS BY PULSED FIELD GEL ELECTROPHORESIS

British Journal of Haematology (1991)

Gail Abrahamson Jacqueline Boultwood James S. Wainscoat

Hematology

10.1111/j.1365-2141.1991.tb07964.x

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Citations (2)

Comparison of cytogenetic and restriction fragment length polymorphism analyses for the detection of loss of chromosome material in clonal hemopoietic disorders

American Journal of Hematology (1993)

Gail Abrahamson Katrina Rack David Oscier M Fitchett Veronica J. Buckle

Abstract Loss of chromosome material, as manifested by monosomy or partial deletion, is commonly found in neoplastic cells. We have undertaken a systematic comparison of standard cytogenetic analysis and molecular analysis for the detection of such loss, using as a model loss of chromosome 7 in 72 patients with a clonal myeloid malignancy. A large number of probes was used to screen three regions of chromosome 7 for loss by restriction fragment length polymorphism (RFLP) analysis. There were nine cases in which loss of chromosome 7 was detected by both techniques, but seven in which loss was detected by only one of the methods, demonstrating the complementary nature of these two techniques. © 1993 Wiley‐Liss, Inc.

Restriction fragment

10.1002/ajh.2830420206

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Citations (10)

A randomized study of VAD therapy with either concurrent or maintenance interferon in patients with newly diagnosed multiple myeloma

British Journal of Haematology (1996)

Gail Abrahamson Jennifer M. Bird A. C. Newland Elizabeth Gaminara Chrissie Giles

This randomized study was designed to determine whether response to VAD chemotherapy could be prolonged by using rh α‐2b‐interferon (IFN) at a dose of 3 mU three times per week, either concurrently with VAD (VIC) or as maintenance after completion of VAD (VIF). Maintenance IFN was given for 9 months in order for the duration of IFN therapy to be similar in both groups. 72 patients were randomized between December 1988 and August 1993. The majority of patients had poor prognostic features. The objective response rate was similar in each arm, 78% in VIF and 77% in VIC. Of the 56 responders, 33 have relapsed, three died in remission, and 18 proceeded to high‐dose therapy, withdrew for other reasons or were lost to follow‐up and were censored from analysis at the relevant time point. Only two patients remain in remission (both in partial remission). Median PFS was 15 months for both VIF and VIC, compared with 16.5 months for a historic control group treated with VAD alone (n.s.), The estimated median survival in VIF was 43 months and in VIC 22 months, compared with 45 months in the historic controls (n.s.). These findings indicate that neither maintenance nor concurrent IFN prolongs response to VAD.

Maintenance therapy

Clinical endpoint

Interferon alfa

Intention-to-treat analysis

10.1046/j.1365-2141.1996.d01-1852.x

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Citations (35)

(C10) Studies of clonality in patients with refractory anaemia and chromosome deletions

Leukemia Research (1991)

Gail Abrahamson Jacqueline Boultwood J. Madden Shane Kelly D Oscler

Refractory (planetary science)

10.1016/0145-2126(91)90350-3

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Citations (0)