Translocations (5;17) and (7;17) in patients with de novo or therapy-related myelodysplastic syndromes or acute nonlymphocytic leukemia

Laı̈, Jean Luc; Zandecki, Marc; Fenaux, Pierre; Baron, F. Le; Bauters, F; Cosson, Alain; Deminatti, M

doi:10.1016/0165-4608(90)90102-g

Cited by 29 publications

(8 citation statements)

References 31 publications

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“…7 We found a strong correlation in AML and MDS between 17p deletion and a typical form of dysgranulopoiesis combining pseudo-Pelger-Huët hypolobulation and the presence of small vacuoles in granulocytes. 6,7 We also found a strong correlation between 17p deletion and p53 mutation, suggesting that MDS and AML with 17p deletion constitute a new morphologic-cytogenetic-molecular ''entity'' in those disorders. 8,9 Our results confirmed a previous report that found a correlation between 17p deletion (mainly through i(17q)) and pseudo-Pelger-Huët hypolobulation in blast crisis chronic my-eloid leukemia (CML), 10 a situation where p53 mutation is also a frequent event, generally correlated to 17p deletion.…”

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confidence: 61%

“…We therefore studied WCP and FISH analysis with probes specific for 17p in 17 cases of AML and MDS with 17p deletion by conventional cytogenetics and where adequate material was available. 6 This analysis seemed important to perform because in our experience and in the literature AML and MDS with 17p deletion generally have complex karyotypes, with unidentified chromosome markers that could contain 17p material, and also because the chromosomal segment translocated on 17p sometimes cannot be identified. 6,19 In the patients where conventional cytogenetics suggested unbalanced t(5;17), t(12;17), t(17;18), or t(17;21) translocation leading to 17p deletion, WCP confirmed the translocation between chromosome 17 and chromosome 5, 12, 18, and 21, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…1,2 Nonrandom chromosomal abnormalities resulting in 17p deletion are seen in 3% to 4% of AML and MDS cases. [3][4][5][6] They include unbalanced translocations between 17p and another chromosome, mainly chromosome 5, and less often monosomy 17, i(17q), or del 17p. Most of those patients have several other cytogenetic abnormalities, and about 30% of the cases are therapy-related.…”

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confidence: 99%

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17p Deletion in Acute Myeloid Leukemia and Myelodysplastic Syndrome. Analysis of Breakpoints and Deleted Segments by Fluorescence In Situ

Soenen

Preudhomme

Roumier

et al. 1998

Blood

128

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Recently, we and other groups reported in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) a strong correlation between cytogenetic rearrangements leading to 17p deletion, a typical form of dysgranulopoiesis combining pseudo-Pelger-Huët hypolobulation and small vacuoles in neutrophils, and p53 mutation. To gain further insight into this “17p-syndrome,” we studied 17 cases of AML and MDS with 17p deletion by whole chromosome painting (WCP) and fluorescence in situ hybridization (FISH) with probes spanning the 17p arm, including a p53 gene probe. Cytogenetically, 15 patients had unbalanced translocation between chromosome 17 and another chromosome (chromosome 5 in nine cases and unidentified chromosome -add 17p- in three cases), one patient had monosomy 17, and one had i(17q). All rearrangements appeared to result in 17p deletion. Sixteen patients had additional cytogenetic rearrangements. WCP analysis confirmed the cytogenetic interpretation in all cases and identified one of the cases of add 17p as a t(17;22). WCP also identified chromosome 17 material on a marker or ring chromosome in two cases of t(5;17). FISH analysis with 17p markers made in 16 cases showed no deletion of the 17p markers studied in the last two patients, who had no typical dysgranulopoiesis; p53 mutation analysis in one of them was negative. In the 14 other cases, FISH showed a 17p deletion of variable extent but that always included deletion of the p53 gene. All 14 patients had typical dysgranulopoiesis, and all but one had p53 mutation and/or overexpression. These findings reinforce the morphologic, cytogenetic, and molecular correlation found in the 17p- syndrome and suggest a pathogenetic role for inactivation of tumor suppressor gene(s) located in 17p, especially the p53 gene.

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confidence: 61%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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17p Deletion in Acute Myeloid Leukemia and Myelodysplastic Syndrome. Analysis of Breakpoints and Deleted Segments by Fluorescence In Situ

Soenen

Preudhomme

Roumier

et al. 1998

Blood

128

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“…Lai et al 3 reported that MDS and AML with chromosome 17 abnormalities are associated with PPA. They identified 11 patients with a 17p deletion resulting from translocations involving 17p: t(5;17)(p11;p11) in four cases, t(7;17)(p11;p11) in five cases, complex (5;17)(q23;p12) translocation with dicentric chromosome in one case and t(17;?)(p11–12;?)…”

Section: Discussionmentioning

confidence: 99%

Chronic myelogenous leukaemia with a p53 mutation demonstrated neutrophilic granulocytes with nuclear hypolobation (pseudo-Pelger-Hüet anomaly) and hypogranulation in the peripheral blood smear

Shibusawa¹,

Tadokoro

Kojima

et al. 2018

BMJ Case Reports

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A 70-year-old man visited our emergency department, whose laboratory test results revealed leucocytosis, anaemia, thrombocytopenia and high levels of serum lactate dehydrogenase. In addition, the peripheral blood smear revealed neutrophilic granulocytes with nuclear hypolobation (pseudo-Pelger-Hüet anomaly), hypogranulation and no myeloperoxidase reactivity. Genetic testing of the peripheral blood sample was as follows: G-band, 46XY,t(9;22)(q34;q11.2) (20/20); fluorescence in situ hybridisation BCR/ABL fusion signal, 97%; and analysis of exons 5-9 of the p53 gene, mutation (Pro72Arg) in exon 4 protein. On the basis of these findings, the patient was diagnosed with chronic myelogenous leukaemia (CML) in chronic phase with a p53 mutation and treated with hydroxyurea, dasatinib and nilotinib. Neutrophilic granulocytes with the anomalies were no longer observed after achieving cytogenetic remission. To the best of our knowledge, this is the first report of CML case with the anomalies, in which a p53 mutation without chromosome 17 abnormalities was identified.

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“…dysgranulopoiesis (hypolobulation and/or intracytoplasmic vacuolation) and/or other forms of dysplasia. These morphological abnormalities might be caused by 17p-, the so-called ‘17p- syndrome', which was reported to be accompanied by morphological characteristics and TP53 mutation [18,19]. Although we were not able to evaluate the TP53 mutations of our 3 cases because of a lack of preserved specimens, it seems that cases involving the loss of 17p tend to exhibit dysgranulopoiesis (intracytoplasmic small vacuoles in cases 1 and 2, hypolobulated myeloid cells in case 3).…”

Section: Discussionmentioning

confidence: 99%

der(5;17)(p10;q10) Is a Recurrent But Rare Whole-Arm Translocation in Patients with Hematological Neoplasms: A Report of Three Cases

Manabe¹,

Okita²,

Tarakuwa³

et al. 2014

Acta Haematol

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We report the cases of 3 patients with hematological malignancies and complex karyotypes involving der(5;17)(p10;q10), which results in the loss of 5q and 17p. Although deletions of 5q and 17p are recurrent abnormalities in hematological disease, only about 20 cases harboring der(5;17)(p10;q10) have been reported. We address the tumorigenesis and morphological characteristics of hematological malignancies involving der(5;17)(p10;q10), along with a review of the literature.

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Translocations (5;17) and (7;17) in patients with de novo or therapy-related myelodysplastic syndromes or acute nonlymphocytic leukemia

Cited by 29 publications

References 31 publications

17p Deletion in Acute Myeloid Leukemia and Myelodysplastic Syndrome. Analysis of Breakpoints and Deleted Segments by Fluorescence In Situ

17p Deletion in Acute Myeloid Leukemia and Myelodysplastic Syndrome. Analysis of Breakpoints and Deleted Segments by Fluorescence In Situ

Chronic myelogenous leukaemia with a p53 mutation demonstrated neutrophilic granulocytes with nuclear hypolobation (pseudo-Pelger-Hüet anomaly) and hypogranulation in the peripheral blood smear

der(5;17)(p10;q10) Is a Recurrent But Rare Whole-Arm Translocation in Patients with Hematological Neoplasms: A Report of Three Cases

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