Three new cases of chromosome 3 rearrangement in bands q21 and q26 with abnormal thrombopoiesis bring further evidence to the existence of a 3q21q26 syndrome

Bellomo, M. Jotterand; Parlier, V.; Mühlematter, Dominique; Grob, J. P.; Beris, P.

doi:10.1016/0165-4608(92)90208-p

Cited by 97 publications

(10 citation statements)

References 86 publications

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“…6) and the inversion 3 (case no. 25) were associated with a dismal outcome as reported previously by other investigators [43,44]. Two polyploid cases showed no abnormalities by either karyotyping or SNPa, a finding possibly reflecting the limitations of genomic resolution in our analysis or alternative disease mechanisms.…”

Section: Discussionsupporting

confidence: 77%

Polyploidy in myelofibrosis: analysis by cytogenetic and SNP array indicates association with advancing disease

et al. 2013

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BackgroundMyelofibrosis occurs as primary myelofibrosis or as a late occurrence in the evolution of essential thrombocythaemia and polycythaemia vera. It is the rarest of the three classic myeloproliferative neoplasms (MPN). Polyploidy has only rarely been reported in MPN despite the prominent involvement of abnormal megakaryocytes. The use of peripheral blood samples containing increased numbers of haematopoietic progenitors has improved the output from cytogenetic studies in myelofibrosis and together with the use of single nucleotide polymorphism arrays (SNPa) has contributed to an improved knowledge regarding the diverse genetic landscape of this rare disease.ResultsCytogenetic studies performed on a consecutive cohort of 42 patients with primary or post ET/PV myelofibrosis showed an abnormal karyotype in 24 cases and of these, nine showed a polyploid clone. Six of the nine cases showed a tetraploid (4n) subclone, whereas three showed mixed polyploid subclones with both tetraploid and octoploid (4n/8n) cell lines. The abnormal clone evolved from a near diploid karyotype at the initial investigation to a tetraploid karyotype in follow-up cytogenetic analysis in four cases. In total, six of the nine polyploid cases showed gain of 1q material. The remaining three cases showed polyploid metaphases, but with no detectable structural karyotypic rearrangements. Three of the nine cases showed chromosome abnormalities of 6p, either at diagnosis or later acquired. SNPa analysis on eight polyploid cases showed additional changes not previously recognised by karyotype analysis alone, including recurring changes involving 9p, 14q, 17q and 22q. Except for gain of 1q, SNPa findings from the polyploid group compared to eight non-polyploid cases with myelofibrosis found no significant differences in the type of abnormality detected.ConclusionsThe study showed the use of peripheral blood samples to be suitable for standard karyotyping evaluation and DNA based studies. The overall profile of abnormalities found were comparable with that of post-MPN acute myeloid leukaemia or secondary myelodysplastic syndrome and cases in the polyploidy group were associated with features of high risk disease. The above represents the first documented series of polyploid karyotypes in myelofibrosis and shows a high representation of gain of 1q.

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Section: Discussionsupporting

confidence: 77%

Polyploidy in myelofibrosis: analysis by cytogenetic and SNP array indicates association with advancing disease

et al. 2013

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“…28 Bone marrow from patient C was handled as described elsewhere. 29 For the slides used for G-banding by Wright's stain and karyotype analysis in cases G and H, a direct culture as well as a 24-and 48-h culture period in unstimulated RPMI media supplement with GCT were used. The cells were exposed to a 37°C trypsin-hypotonic-colcemid (THC) solution and fixed with a 3:1 methanol:acetic acid mixture.…”

Section: Metaphase Preparationmentioning

confidence: 99%

Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16)

et al. 1997

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The CREB-binding protein (CBP) is a large nuclear protein that regulates many signal transduction pathways and is involved in chromatin-mediated transcription. The translocation t(8;16)(p11;p13.3) consistently disrupts two genes: the CBP gene on chromosome band 16p13.3 and the MOZ gene on chromosome band 8p11. Although a fusion of these two genes as a result of the translocation is expected, attempts at detecting the fusion transcript by reverse transcriptase polymerase chain reaction (RT-PCR) have proven difficult; to date, only one inframe CBP/MOZ fusion transcript has been reported. We therefore sought other reliable means of detecting CBP rearrangements. We applied fluorescence in situ hybridization (FISH) and Southern blot analyses to a series of AML patients with a t(8;16) and detected DNA rearrangements of both the CBP and the MOZ loci in all cases tested. All six cases examined for CBP rearrangements have breakpoints within a 13 kb breakpoint cluster region at the 5′ end of the CBP gene. Additionally, we used a MOZ cDNA probe to construct a surrounding cosmid contig and detect DNA rearrangements in three t(8;16) cases, all of which display rearrangements within a 6 kb genomic fragment of the MOZ gene. We have thus developed a series of cosmid probes that consistently detect the disruption of the CBP gene in t(8;16) patients. These clones could potentially be used to screen other cancer-associated or congenital translocations involving chromosome band 16p13.3 as well.

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“…Fewer than 10% of leukaemia cases present with thrombocytosis at diagnosis. Morphological and cytogenetic studies have revealed dysmegacaryopoiesis and a characteristic cytogenetic pattern, with 3q21–q26 rearrangements, in about 50% of these cases (2).…”

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confidence: 99%

Diabetes insipidus revealing acute myelogenous leukaemia with a high platelet count, monosomy 7 and abnormalities of chromosome 3: a new entity?

Lavabre‐Bertrand¹,

Bourquard

Chiésa³

et al. 2001

European J of Haematology

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We describe three cases of acute myeloid leukaemia revealed by diabetes insipidus. The patients were 42, 38 and 39 yr old and they had marked hyperleukocytosis, circulating immature granular cells and a normal or elevated platelet count. The leukaemia was type AML-M2 according to the FAB classification. Cytogenetic studies showed inversion of chromosome 3 (q21;q26) in 2 cases and a translocation (3;3)(q21;q29?) in the remaining case, both associated with monosomy 7. All the cerebral CT scans were normal. Complete remission was never achieved, and all three patients survived less than 14 months. Desmopressin therapy was active but treatment could not be reduced. The association of dysmegakaryopoiesis with a chromosome 3 abnormality and diabetes insipidus is probably not fortuitous and could represent a new entity.

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Three new cases of chromosome 3 rearrangement in bands q21 and q26 with abnormal thrombopoiesis bring further evidence to the existence of a 3q21q26 syndrome

Cited by 97 publications

References 86 publications

Polyploidy in myelofibrosis: analysis by cytogenetic and SNP array indicates association with advancing disease

Polyploidy in myelofibrosis: analysis by cytogenetic and SNP array indicates association with advancing disease

Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16)

Diabetes insipidus revealing acute myelogenous leukaemia with a high platelet count, monosomy 7 and abnormalities of chromosome 3: a new entity?

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