Written | 2016-06 | Adriana Zamecnikova, Soad al Bahar |
Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait; annaadria@yahoo.com |
Abstract | Review on dup(1)(q11-q44) in myeloid malignancies, with data on clinics |
Identity |
ICD-Topo | C420,C421,C424 |
ICD-Morpho | 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable |
ICD-Morpho | 9950/3 Polycythaemia vera |
ICD-Morpho | 9962/3 Essential thrombocythaemia |
ICD-Morpho | 9961/3 Primary myelofibrosis |
ICD-Morpho | 9945/3 Chronic myelomonocytic leukaemia |
ICD-Morpho | 9983/3 Refractory anaemia with excess blasts |
ICD-Morpho | 9985/3 Refractory cytopenia with multilineage dysplasia; Refractory cytopenia of childhood |
ICD-Morpho | 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable |
ICD-Morpho | 9989/3 Myelodysplastic syndrome, unclassifiable |
ICD-Morpho | 9920/3 Therapy-related myeloid neoplasms |
ICD-Morpho | 9896/3 AML with t(8;21)(q22;q22); RUNX1-RUNX1T1 |
ICD-Morpho | 9866/3 Acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-RARA |
ICD-Morpho | 9865/3 AML with t(6;9)(p23;q34); DEK-NUP214v AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2);RPN1-EVI1 |
ICD-Morpho | 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS |
Atlas_Id | 1443 |
Clinics and Pathology |
Disease | Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and acute myeloid leukemia (AML). | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Phenotype / cell stem origin | Chronic myeloproliferative disorder in 58 cases and AML in 52 patients. Chronic myeloproliferative neoplasms: 5 polycythemia vera (PV) (Carbonell et al., 1983; Mamaeva et al., 1983; Rege-Cambrin et al., 1987; Jarosova et al., 1988), 3 essential thrombocythemia (ET) (Knuutila et al., 1983; Richard et al., 1987; Lofvenberg et al., 1990), 10 myelofibrosis (MF) (Schmid and Kohler., 1984; Lawler and Swansbury.,1985; Akahoshi et al., 1987; Fonatsch and Gradl., 1988; Lofvenberg et al., 1990; Andrieux et al., 2003), among them 4 with post-PV myelofibrosis (Andrieux et al 2003) and 2 after therapy for a previous malignancy (Lawler and Swansbury., 1985; Akahoshi et al., 1987). There were 2 chronic myelomonocytic leukemia (CMMoL) (Fonatsch et al., 1991; Trakhtenbrot et al., 2010) cases and 2 patients with unspecified chronic myeloproliferative disorders (Haubenstock et al., 1985; Kerman et al., 1986). Myelodysplastic syndrome: 25 patients (Anderson and Bagby., 1982; Papenhausen et al., 1984; Yunis et al., 1986; Palmer et al., 1987; Fonatsch et al., 1991; Kanamaru and Tamura., 1993; Ohyashiki et al., 1994; Tien et al., 1994; Satake et al., 1997; Alter et al., 2000; de Souza Fernandez et al., 2000; Kearns et al., 2004; Alfaro et al., 2008; Bacher et al., 2009; Vundinti et al., 2010; Kolquist et al., 2011; Quentin et al., 2011), 8 of them with Fanconi anemia (FA) (Alter et al 2000; Vundinti et al 2010; Quentin et al., 2011). Chronic myeloid leukemia (CML) was diagnosed in 11 patients (Kohno and Sandberg., 1980; Smadja et al., 1984; Hild and Fonatsch., 1990; Gozzetti et al., 2003; Herens et al., 2003; Lee et al., 2003; Schoch et al., 2003; Abruzzese et al., 2007; Palandri et al., 2009; Sun et al., 2011; Fabarius et al., 2011). In 8 patients dup(1q) was found in association with t(9;22)(q34;q11) (Kohno and Sandberg 1980; Smadja et al., 1984; Hild and Fonatsch., 1990; Lee et al., 2003; Schoch et al., 2003; Palandri et al., 2009; Sun et al., 2011; Fabarius et al., 2011) and it was detected in a Ph-negative clone while on imatinib therapy in 3 patients (Gozzetti et al., 2003; Herens et al., 2003; Abruzzese et al., 2007). Acute myeloid leukemia: There were 53 patients diagnosed with various forms of AML: 1 AML-M0 (Angelova et al., 2015), 4 AML-M1 (Pui et al., 1990; Tanaka et al., 1997; Taylor et al., 2000; Jekarl et al., 2010), 9 AML-M2 (CG et al., 1988; Tien et al., 1988; Kobayashi et al., 1990; Stuppia et al., 1990; Kudoh et al., 1995; Tamura et al., 1998; Lee et al., 2004; Kim et al., 2009; Beach et al., 2012), 3 AML-M3 (Berger et al., 1988; Cuneo et al 1992; Batzios et al., 2009), 7 AML-M4 (Haas et al., 1985; Misawa et al., 1988; Raynaud et al., 1994; Hda et al., 1996; Forestier et al., 2003; Schmidt et al., 2004; Bao et al., 2006), 5 AML-M5 (Orazi et al., 1988; Soekarman et al., 1992; Harrison et al., 1998; Panagopoulos et al., 2000; Gmidene et al., 2012), 2 AML-M6 (Cuneo et al., 1990; Creutzig et al., 1996), 5 AML-M7 (Shikano et al., 1995; Creutzig et al., 1996; Alvarez et al., 2001; Strehl et al., 2001; Lundin et al., 2012) and 16 AML unspecified cases (Nacheva et al., 1982; Ghaddar et al.,1994; Nacheva et al., 1995; Kolstad et al., 1996; Pallisgaard et al., 1998; Raimondi et al., 1999; Alter et al., 2000; Blann et al., 2000; de Souza Fernandez et al., 2000; Clavio et al., 2001; Seiter et al., 2001; Kern et al., 2002; Oliveira et al., 2002; Quentin et al., 2011). Patient's characteristics are reported in Table 1. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Epidemiology | At least 110 reported cases in myeloid malignancies (63 males and 47 females, aged 0 to 84 years; median 45 years); male prevalence in chronic myeloid neoplasms (35M/23F, aged 1 to 84 years; median 51 years); balanced sex ratio in AML (28M/24F aged 0 to 72 years; median 33 years). There were 20 pediatric cases (9M/11F; <16 years), mainly with AML (16 out of 20 cases)(Satake et al., 1997; Vunditi et al., 2010; Quentin et al., 2011; Nacheva et al., 1982; de Alarcon et al., 1987; Orazi et al.,1988; Tien et al.,1988; Pui et al., 1990; Shikano et al., 1995; Creutzig et al., 1996; Harrison et al., 1998; Blann et al., 2000; Taylor et al., 2000; Alvarez et al., 2001; Strehl et al., 2001; Oliveira et al., 2002; Forestier et al., 2003; Lundin et al., 2012). 4 of the pediatric cases were infants (<1 years, 2M/2F) (Nacheva et al., 1982; Satake et al., 1997; Harrison et al., 1998; Strehl et al., 2001) and there were 6 children with AML and Down syndrome (1M/5F, aged 1 to 3 years old) (de Alarcon et al 1987; Creutzig et al., 1996; Blann et al., 2000; Alvarez et al., 2001; Strehl et al., 2001; Lundin et al., 2012). There seems to be an over-representation (10%) of Fanconi anemia (FA) patients (8M/3F, aged 5 to 32 years) (Alter et al., 2000; Oliveira et al., 2002; Vundinti et al., 2010; Quentin et al., 2011), probably reflecting genetic predisposition to develop bone marrow failure or acute myeloid leukemia in these patients. There were 8 therapy-related myeloid malignancies developing in patients after cytotoxic and/or radiation therapy for the primary disease: 3 MPN (Lawler and Swansbury1985; Haubenstock et al., 1985; Akahoshi et al., 1987) and 5 AML (Orazi et al., 1988; Pui et al., 1990; Tanaka et al., 1997; Taylor et al., 2000; Schmidt et al., 2004). Also, there was an emergence of cytogenetically abnormal clones with dup(1q) in Ph-negative cell population in CML (Herens et al., 2003; Gozzetti et al., 2003; Abruzzese et al., 2007) and AML patients while on complete remission (Raynaud et al., 1994; Kudoh et al., 1995; Seiter et al., 2001; Batzios et al., 2009., Beach et al., 2012). Given that these patients had previously received therapy, the role of cytotoxic treatments in these cases cannot be excluded. Table 1. Reported cases with 1q duplication involving 1q11-q44.
Abbreviations: M, male; F, female; MDS, myelodysplastic syndrome; PV, polycythemia vera; ET, essential thrombocythemia IMF, idiopathic myelofibrosis; CMPD, chronic myeloproliferative disorder; RA, refractory anemia; RAEB, refractory anemia with excess of blasts; CMMoL, chronic myelomonocytic leukemia; FA, Fanconiís anemia; PPMF, post polycythemia vera myelofibrosis; RCMD, refractory cytopenia with multilineage dysplasia; RAEBS, refractory cytopenia with multilineage dysplasia and ringed sideroblasts; CML, chronic myeloid leukemia; BP, blastic phase; AML, acute myeloid leukemia; AML-M4, acute myelomonocytic leukemia; DS, Downís syndrome; AML-M3, acute promyelocytic leukemia; AML-M2, acute myeloblastic leukemia with maturation; AML-M5, acute monoblastic leukemia; AML-M6, acute erythroleukemia; AML-M1, acute myeloblastic leukemia without maturation; AML-M7, ALL., acute lymphoblastic leukemia; acute megakaryoblastic leukemia; AML-M0, Acute myeloid leukemia with minimal differentiation. 1.Anderson and Bagby., 1982; 2.Carbonell et al., 1983; 3.Knuutila et al., 1983; 4. Mamaeva et al., 1983; 5.Papenhausen et al., 1984; 6.Schmid and Kohler., 1984; 7. Haubenstock et al., 1985; 8. Lawler and Swansbury.,1985; 9.Kerman et al., 1986; 10.Yunis et al., 1986; 11.Akahoshi et al., 1987; 12.Palmer et al., 1987; 13-14. Rege-Cambrin et al., 1987; 15.Richard et al., 1987; 16.Jarosova et al., 1988; 17. Fonatsch and Gradl., 1988; 18-19.Lofvenberg et al., 1990; 20-22.Fonatsch et al., 1991; 23.Kanamaru and Tamura 1993; 24-25.Ohyashiki et al., 1994; 26.Tien et al., 1994; 27.Satake et al., 1997; 28-29,87.Alter et al., 2000; 30,89.de Souza et al., 2000; 31-34.Andrieux et al., 2003; 35.Andrieux et al., 2004; 36.Kearns et al., 2004; 37-38.Alfaro et al., 2008; 39.Bacher et al., 2009; 40.Trakhtenbrot et al., 2010; 41.Vundinti et al., 2010; 42.Kolquist et al., 2011; 43-47,106.Quentin et al., 2011; 48.Kohno and Sandberg., 1980; 49.Smadja et al., 1984; 50.Hild and Fonatsch 1990; 51.Gozzetti et al., 2003; 52.Herens et al., 2003; 53. Lee et al., 2003; 54. Schoch et al., 2003; 55.Abruzzese et al., 2007; 56.Palandri et al., 2009; 57.Fabarius et al., 2011; 58.Sun et al., 2011; 59.Nacheva et al., 1982; 60.Haas et al., 1985; 61.de Alarcon et al., 1987; 62. Berger et al., 1988; 63.CG., 1988; 64.Misawa et al., 1988; 65. Orazi et al.,1988; 66. Tien et al.,1988; 67. Cuneo et al., 1990; 68.Kobayashi et al., 1990; 69.Pui et al., 1990; 70.Stuppia et al., 1990; 71.Cuneo et al., 1992; 72. Soekarman et al., 1992; 73.Ghaddar et al., 1994; 74.Raynaud et al., 1994; 75.Kudoh et al., 1995; 76.Nacheva et al., 1995; 77.Shikano et al., 1995; 78.Creutzig et al., 1996; 79.Kolstad et al., 1996; 80.Hda et al., 1996; 81.Tanaka et al., 1997; 82.Harrison et al., 1998; 83.Pallisgaard et al., 1998; 84.Tamura et al., 1998; 85-86.Raimondi et al., 1999; 88.Blann et al., 2000; 90.Panagopoulos et al., 2000; 91.Taylor et al., 2000; 92.Alvarez et al., 2001; 93.Clavio et al., 2001; 94-95.Seiter et al., 2001; 96.Strehl et al., 2001; 97.Kern et al., 2002; 98.Oliveira et al., 2002; 99.Forestier et al., 2003; 100.Lee et al., 2004; 101.Schmidt et al., 2004; 102.Bao et al., 2006; 103.Batzios et al., 2009; 104.Kim et al., 2009; 105.Jekarl et al., 2010; 107.Beach et al., 2012; 108. Gmidene et al., 2012; 109.Lundin et al., 2012; 110.Angelova et al., 2015. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prognosis | The prognosis is likely variable in myeloid malignancies as dup(1q) may be present at all stages in the bone marrow, including hypoplastic marrow without morphological evidence of transformation. The appearance of dup(1q) in association with leukaemic or myelofibrotic transformation and/or poor-risk genetic features may be predictive of inferior prognosis (Beach et al., 2012). |
Cytogenetics |
Cytogenetics Morphological | Presents as one normal chromosome 1 and a dup(1)(q11-q44) chromosome. The breakpoints in 1q varied from 1q11 to 1q44, with a clustering to 1q21q32 (19 out of 110 cases) and 1q21q42, being duplicated in 13 out of 110 patients. |
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Figure 1. Partial karyotypes showing duplication of the long arm of chromosome 1 (A) and Fluorescence in situ hybridization with LSI 1p36/1q25 probe (Abott, Vysis, USA) showing duplication of 1q25 sequences (green signal) on der(1) chromosome (arrow). | |
Additional anomalies | Sole abnormality in 37 patients, mostly in chronic myeloproliferative disorders (3 PV, 3 ET, 6 MF, 1 CMMoL, 14 MDS and 3 CML), and less frequently in AML (7 cases). Associated in combination with an extra chromosome 8 in 11 (Papenhausen et al., 1984;Ohyashiki et al., 1994; Alfaro et al., 2008; Schoch et al., 2003; CG., 1988; Tien et al.,1988; Cuneo et al., 1992; Ghaddar et al., 1994; Creutzig et al., 1996; Tamura et al., 1998; Bao et al., 2006). Loss of chromosome 7 was observed in 3 AML patients (Haas et al., 1985; Hda et al., 1996; Ghaddar et al., 1994) and del(7q) in 4 cases, 3 of them with Fanconi anemia (Alter et al., 2000; Kearns et al., 2004; Quentin et al., 2011). del(5q) was found in 2 AML (Soekarman et al., 1992; Tanaka et al., 1997) and del(20q) was present in 3 (Trakhtenbrot et al., 2010; Kobayashi et al., 1990; Nacheva et al., 1995) cases. The dup(1q) was apparently secondary anomaly- occurring in a subclone or together with the well-known primary abnormalities such as t(8;21)(q22;q22) in 2 (Tien et al.,1988; Lee et al., 2004), t(9;22)(q34;q11) in 8 CML (Kohno and Sandberg., 1980; Smadja et al., 1984; Hild and Fonatsch 1990; Lee et al., 2003; 54. Schoch et al., 2003; Palandri et al., 2009; Fabarius et al., 2011; Sun et al., 2011) and 1 AML (de Souza et al., 2000). t(15;17)(q24;q21) was found in 2 cases (Berger et al., 1988; Cuneo et al., 1992), 21q22 abnormalities in 5 (Raimondi et al., 1999; Kim et al., 2009; Jekarl et al., 2010) and 11q23 rearrangements in 4 AML patients (Nacheva et al., 1982; Harrison et al., 1998; Taylor et al., 2000; Clavio et al., 2001 ). Cytogenetic clonal variation with karyotypically unrelated clones was found in 5 MPN (Rege-Cambrin et al., 1987; Andrieux et al., 2003; Alfaro et al., 2008; Hild and Fonatsch 1990; Sun et al., 2011) and 2 AML patients (Alter et al., 2000; Strehl et al., 2001). |
Result of the chromosomal anomaly |
Oncogenesis | Duplication of all or part of the long arm of chromosome 1 is one of the most frequent chromosomal abnormalities in human neoplasia. In hematologic malignancies of the myeloid lineages, it has been reported in patients with various myeloproliferative conditions, including chronic myeloproliferative neoplasms and acute myelogenous leukemia. Although cytogenetically heterogeneous, duplication of the 1q21-1q32 segment is most commonly observed, indicating that certain chromosome 1 regions might harbor genes that are casually implicated in oncogenesis. The unbalanced nature of this rearrangement indicates, that the sequential duplication of 1q leading to chromosomal imbalances is likely implicated in neoplastic processes by a gene dosage effect. Whether appearance of 1q duplication marks only preleukemic cells participating indirectly, or it may be sufficient as the sole anomaly to promote leukemogenesis is unclear, as well as the role of cytotoxic therapy in some patients. |
Bibliography |
Characterization of Ph-negative abnormal clones emerging during imatinib therapy |
Abruzzese E, Gozzetti A, Galimberti S, Trawinska MM, Caravita T, Siniscalchi A, Cervetti G, Mauriello A, Coletta AM, De Fabritiis P |
Cancer 2007 Jun 15;109(12):2466-72 |
PMID 17503437 |
Myeloproliferative disorders terminating in acute megakaryoblastic leukemia with chromosome 3q26 abnormality |
Akahoshi M, Oshimi K, Mizoguchi H, Okada M, Enomoto Y, Watanabe Y |
Cancer 1987 Dec 1;60(11):2654-61 |
PMID 3479228 |
dup(1)(q21q32) as a sole cytogenetic event is associated to a leukemic transformation in myelodysplastic syndromes |
Alfaro R, Pérez-Granero A, Durán MA, Besalduch J, Rosell J, Bernués M |
Leuk Res 2008 Jan;32(1):159-61 |
PMID 17509681 |
Fanconi anemia: myelodysplasia as a predictor of outcome |
Alter BP, Caruso JP, Drachtman RA, Uchida T, Velagaleti GV, Elghetany MT |
Cancer Genet Cytogenet 2000 Mar;117(2):125-31 |
PMID 10704682 |
Frequent gain of chromosome 19 in megakaryoblastic leukemias detected by comparative genomic hybridization |
Alvarez S, MacGrogan D, Calasanz MJ, Nimer SD, Jhanwar SC |
Genes Chromosomes Cancer 2001 Nov;32(3):285-93 |
PMID 11579469 |
The prognostic value of chromosome studies in patients with the preleukemic syndrome (hemopoietic dysplasia) |
Anderson RL, Bagby GC Jr |
Leuk Res 1982;6(2):175-81 |
PMID 7186085 |
Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia |
Andrieux J, Demory JL, Dupriez B, Quief S, Plantier I, Roumier C, Bauters F, Laï JL, Kerckaert JP |
Genes Chromosomes Cancer 2004 Jan;39(1):82-7 |
PMID 14603445 |
IS THE AMPLIFICATION OF c-MYC, MLL AND RUNX1 GENES IN AML AND MDS PATIENTS WITH TRISOMY 8, 11 AND 21 A FACTOR FOR A CLONAL EVOLUTION IN THEIR KARYOTYPE? Tsitol Genet |
Angelova S, Spassov B, Nikolova V, Christov I, Tzvetkov N, Simeonova M |
2015 May-Jun;49(3):25-32 |
PMID 26214902 |
Inverted duplication dup(1)(q32q21) as sole aberration in lymphoid and myeloid malignancies |
Bacher U, Schnittger S, Grüneisen A, Haferlach T, Kern W, Haferlach C |
Cancer Genet Cytogenet 2009 Jan 15;188(2):108-11 |
PMID 19100515 |
Prospective study of 174 de novo acute myelogenous leukemias according to the WHO classification: subtypes, cytogenetic features and FLT3 mutations |
Bao L, Wang X, Ryder J, Ji M, Chen Y, Chen H, Sun H, Yang Y, Du X, Kerzic P, Gross SA, Yao L, Lv L, Fu H, Lin G, Irons RD |
Eur J Haematol 2006 Jul;77(1):35-45 |
PMID 16573742 |
Secondary clonal cytogenetic abnormalities following successful treatment of acute promyelocytic leukemia |
Batzios C, Hayes LA, He SZ, Quach H, McQuilten ZK, Wall M, Campbell LJ |
Am J Hematol 2009 Nov;84(11):715-9 |
PMID 19806661 |
Duplication of chromosome 1 [dup(1)(q21q32)] as the sole cytogenetic abnormality in a patient previously treated for AML |
Beach DF, Barnoski BL, Aviv H, Patel V, Schwarting R, Strair R, Lachant NA |
Cancer Genet 2012 Dec;205(12):665-8 |
PMID 23168243 |
Cytogenetic studies on acute nonlymphocytic leukemia in relapse |
Berger R, Le Coniat M, Derré J, Vecchione D, Pacot A, Chen SJ, Baranger L, Bernheim A |
Cancer Genet Cytogenet 1988 Aug;34(1):11-8 |
PMID 3395983 |
Duplication of 1q in a child with down syndrome and myelodysplastic syndrome |
Blann MM, Morgan DL, Oblender M, Heinen B, Williams J, Tonk VS |
Cancer Genet Cytogenet 2000 May;119(1):74-6 |
PMID 10812176 |
Cytogenetic studies in chronic myeloproliferative disorders |
Carbonell F, Ganser A, Heimpel H |
Acta Haematol 1983;69(3):145-51 |
PMID 6404096 |
First line therapy with fludarabine combinations in 42 patients with either post myelodysplastic syndrome or therapy related acute myeloid leukaemia |
Clavio M, Gatto S, Beltrami G, Cerri R, Carrara P, Pierri I, Canepa L, Miglino M, Balleari E, Masoudi B, Damasio E, Ghio R, Sessarego M, Gobbi M |
Leuk Lymphoma 2001 Jan;40(3-4):305-13 |
PMID 11426552 |
Myelodysplasia and acute myelogenous leukemia in Down's syndrome |
Creutzig U, Ritter J, Vormoor J, Ludwig WD, Niemeyer C, Reinisch I, Stollmann-Gibbels B, Zimmermann M, Harbott J |
A report of 40 children of the AML-BFM Study Group Leukemia |
PMID 8892666 |
Correlation of cytogenetic patterns and clinicobiological features in adult acute myeloid leukemia expressing lymphoid markers |
Cuneo A, Michaux JL, Ferrant A, Van Hove L, Bosly A, Stul M, Dal Cin P, Vandenberghe E, Cassiman JJ, Negrini M, et al |
Blood 1992 Feb 1;79(3):720-7 |
Morphologic, immunologic and cytogenetic studies in erythroleukaemia: evidence for multilineage involvement and identification of two distinct cytogenetic-clinicopathological types |
Cuneo A, Van Orshoven A, Michaux JL, Boogaerts M, Louwagie A, Doyen C, Dal Cin P, Fagioli F, Castoldi G, Van den Berghe H |
Br J Haematol 1990 Jul;75(3):346-54 |
PMID 2386768 |
A multicenter study of 55 patients |
Cytogenetics of acutely transformed chronic myeloproliferative syndromes without a Philadelphia chromosome |
Groupe Français de Cytogéné Hématologique Cancer Genet Cytogenet |
PMID 3163258 |
Impact of additional cytogenetic aberrations at diagnosis on prognosis of CML: long-term observation of 1151 patients from the randomized CML Study IV |
Fabarius A, Leitner A, Hochhaus A, Müller MC, Hanfstein B, Haferlach C, Göhring G, Schlegelberger B, Jotterand M, Reiter A, Jung-Munkwitz S, Proetel U, Schwaab J, Hofmann WK, Schubert J, Einsele H, Ho AD, Falge C, Kanz L, Neubauer A, Kneba M, Stegelmann F, Pfreundschuh M, Waller CF, Spiekermann K, Baerlocher GM, Lauseker M, Pfirrmann M, Hasford J, Saussele S, Hehlmann R; Schweizerische Arbeitsgemeinschaft für Klinische Krebsforschung (SAKK) and the German CML Study Group |
Blood 2011 Dec 22;118(26):6760-8 |
PMID 22039253 |
Cytogenetic findings in myeloproliferative disorders. |
Fonatsch C, Gradl G. |
Chronic Myelocytic Leukemia and Interferon (Eds Huhn, Hellriegel, Niederle), Springer-Verlag, Berlin. 1988,1-18. |
Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001 |
Forestier E, Heim S, Blennow E, Borgström G, Holmgren G, Heinonen K, Johannsson J, Kerndrup G, Andersen MK, Lundin C, Nordgren A, Rosenquist R, Swolin B, Johansson B; Nordic Society of Paediatric Haematology and Oncology (NOPHO); Swedish Cytogenetic Leukaemia Study Group (SCLSG); NOPHO Leukaemia Cytogenetic Study Group (NLCSG) |
Br J Haematol 2003 May;121(4):566-77 |
Cytogenetic evolution following the transformation of myelodysplastic syndrome to acute myelogenous leukemia: implications on the overlap between the two diseases |
Ghaddar HM, Stass SA, Pierce S, Estey EH |
Leukemia 1994 Oct;8(10):1649-53 |
PMID 7934160 |
Cytogenetic profile of a large cohort of Tunisian de novo acute myeloid leukemia |
Gmidène A, Sennana H, Wahchi I, Youssef YB, Jeddi R, Elloumi M, Saad A |
Hematology 2012 Jan;17(1):9-14 |
PMID 22549442 |
Emergence of Ph negative clones in chronic myeloid leukemia (CML) patients in complete cytogenetic remission after therapy with imatinib mesylate (STI) |
Gozzetti A, Tozzuoli D, Crupi R, Gentili S, Bocchia M, Raspadori D, Lauria F |
Eur J Haematol 2003 Oct;71(4):313-4 |
PMID 12950245 |
Noninvolvement of chromosome 16 in karyotype evolution of acute myeloid leukemia in a patient with a heritable fragile site on 16q22 |
Haas OA, Nacheva E, Schwarzmeier JD |
Cancer Genet Cytogenet 1985 May;17(1):1-12 |
Ten novel 11q23 chromosomal partner sites |
Harrison CJ, Cuneo A, Clark R, Johansson B, Lafage-Pochitaloff M, Mugneret F, Moorman AV, Secker-Walker LM |
European 11q23 Workshop participants Leukemia |
PMID 9593286 |
Philadelphia-chromosome-negative chronic myelogenous leukemia with incomplete trisomy 1q following chemotherapy for ovarian carcinoma |
Haubenstock A, Zalusky R, Kim HJ, Kabakow B, Perle MA, Malamud SC, Vizel-Schwartz M |
Acta Haematol 1985;74(3):168-70 |
PMID 3938161 |
Cytogenetic survey of 53 Moroccan patients with acute myeloblastic leukemia |
Hda N, Chadli B, Bousfiha A, Trachli A, Harif M, Benslimane A |
Cancer Genet Cytogenet 1996 Feb;86(2):124-8 |
PMID 8603337 |
Clonal chromosome aberrations in Philadelphia-negative cells from chronic myelocytic leukemia patients treated with imatinib mesylate: report of two cases |
Herens C, Baron F, Croisiau C, Tassin F, Bours V |
Cancer Genet Cytogenet 2003 Nov;147(1):78-80 |
PMID 14580776 |
Cytogenetic peculiarities in chronic myelogenous leukemia |
Hild F, Fonatsch C |
Cancer Genet Cytogenet 1990 Jul 15;47(2):197-217 |
PMID 2357695 |
Cytogenetic studies in polycythemia vera |
Jarosová M, Indrák K, Dusek J, Kapustová M |
Neoplasma 1988;35(2):221-8 |
PMID 3374710 |
CD56 antigen expression and hemophagocytosis of leukemic cells in acute myeloid leukemia with t(16;21)(p11;q22) |
Jekarl DW, Kim M, Lim J, Kim Y, Han K, Lee AW, Kim HJ, Min WS |
Int J Hematol 2010 Sep;92(2):306-13 |
PMID 20694842 |
Application of long-term bone marrow cultures for studying the leukemic transformation of myelodysplastic syndromes |
Kanamaru A, Tamura S |
Leuk Lymphoma 1993 Nov;11(5-6):345-52 |
PMID 8124206 |
Centrosome amplification and aneuploidy in bone marrow failure patients |
Kearns WG, Yamaguchi H, Young NS, Liu JM |
Genes Chromosomes Cancer 2004 Aug;40(4):329-33 |
PMID 15188456 |
Translocation (1;17) in accelerating and blast phases of chronic myelogenous leukemia |
Kerman SL, Miller RB, Heritage DW |
Cancer Genet Cytogenet 1986 Feb 15;20(3-4):269-77 |
PMID 3455868 |
Karyotype instability between diagnosis and relapse in 117 patients with acute myeloid leukemia: implications for resistance against therapy |
Kern W, Haferlach T, Schnittger S, Ludwig WD, Hiddemann W, Schoch C |
Leukemia 2002 Oct;16(10):2084-91 |
PMID 12357361 |
Detection of FUS-ERG chimeric transcript in two cases of acute myeloid leukemia with t(16;21)(p11 |
Kim J, Park TS, Song J, Lee KA, Hong DJ, Min YH, Cheong JW, Choi JR |
2;q22) with unusual characteristics Cancer Genet Cytogenet |
PMID 19781443 |
Chromosome 1q+ in erythroid and granulocyte-monocyte precursors in a patient with essential thrombocythemia |
Knuutila S, Ruutu T, Partanen S, Vuopio P |
Cancer Genet Cytogenet 1983 Jul;9(3):245-9 |
PMID 6683122 |
Karyotypically unrelated clones in acute leukemias and myelodysplastic syndromes |
Kobayashi H, Kaneko Y, Maseki N, Sakurai M |
Cancer Genet Cytogenet 1990 Jul 15;47(2):171-8 |
PMID 2357693 |
Chromosomes and causation of human cancer and leukemia: XXXIX |
Kohno SI, Sandberg AA |
Usual and unusual findings in Ph1-positive CML Cancer |
PMID 6932994 |
Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes |
Kolquist KA, Schultz RA, Furrow A, Brown TC, Han JY, Campbell LJ, Wall M, Slovak ML, Shaffer LG, Ballif BC |
Cancer Genet 2011 Nov;204(11):603-28 |
PMID 22200086 |
Clonal chromosome aberrations in myeloid leukemia after styrene exposure |
Kolstad HA, Pedersen B, Olsen J, Lynge E, Jensen G, Lisse I, Philip P, Pedersen NT |
Scand J Work Environ Health 1996 Feb;22(1):58-61 |
PMID 8685676 |
Emergence of karyotypically unrelated clone in remission of de novo acute myeloblastic leukaemias |
Kudoh S, Asou H, Kyo T, Asaoku H, Dohy H, Eguchi M, Tashiro S, Tanaka K, Kamada N |
Br J Haematol 1995 Mar;89(3):531-4 |
Cytogenetic abnormalities and leukemic transformation in hydroxyurea-treated patients with Philadelphia chromosome negative chronic myeloproliferative disease |
Löfvenberg E, Nordenson I, Wahlin A |
Cancer Genet Cytogenet 1990 Oct 1;49(1):57-67 |
PMID 2397474 |
Cytogenetic studies in myelofibrosis and related conditions. |
Lawler & Swansbury. |
Myelofibrosis Pathophysiology and Clinical Management (Ed SM Lewis), Marcel Dekker, New York 1985; 167-194. |
A study on the incidence of ABL gene deletion on derivative chromosome 9 in chronic myelogenous leukemia by interphase fluorescence in situ hybridization and its association with disease progression |
Lee DS, Lee YS, Yun YS, Kim YR, Jeong SS, Lee YK, She CJ, Yoon SS, Shin HR, Kim Y, Cho HI |
Genes Chromosomes Cancer 2003 Jul;37(3):291-9 |
PMID 12759927 |
Adult patients with t(8;21) acute myeloid leukemia had no superior treatment outcome to those without t(8;21): a single institution's experience |
Lee KW, Choi IS, Roh EY, Kim DY, Yun T, Lee DS, Yoon SS, Park S, Kim BK, Kim NK |
Ann Hematol 2004 Apr;83(4):218-24 |
PMID 14628154 |
High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome |
Lundin C, Hjorth L, Behrendtz M, Nordgren A, Palmqvist L, Andersen MK, Biloglav A, Forestier E, Paulsson K, Johansson B |
Genes Chromosomes Cancer 2012 Feb;51(2):196-206 |
PMID 22072402 |
Complete or partial trisomy for the long arm of chromosome 1 in patients with various hematologic malignancies |
Mamaeva SE, Mamaev NN, Jartseva NM, Belyaeva LV, Scherbakova EG |
Hum Genet 1983;63(2):107-12 |
PMID 6573295 |
Detection of karyotypic abnormalities in most patients with acute nonlymphocytic leukemia by adding ethidium bromide to short-term cultures |
Misawa S, Yashige H, Horiike S, Taniwaki M, Nishigaki H, Okuda T, Yokota S, Tsuda S, Edagawa J, Imanishi H, et al |
Leuk Res 1988;12(9):719-29 |
PMID 3193811 |
Acute myelogenous leukemia in a child with primary involvement of chromosomes 11 and X |
Nacheva E, Fischer P, Haas O, Manolova Y, Manolov G, Levan A |
Hereditas 1982;97(2):273-88 |
PMID 6962201 |
Characterization of 20q deletions in patients with myeloproliferative disorders or myelodysplastic syndromes |
Nacheva E, Holloway T, Carter N, Grace C, White N, Green AR |
Cancer Genet Cytogenet 1995 Apr;80(2):87-94 |
PMID 7736443 |
Telomere shortening associated with disease evolution patterns in myelodysplastic syndromes |
Ohyashiki JH, Ohyashiki K, Fujimura T, Kawakubo K, Shimamoto T, Iwabuchi A, Toyama K |
Cancer Res 1994 Jul 1;54(13):3557-60 |
PMID 8012981 |
Two different karyotypes with 1q abnormalities in a patient with Fanconi anemia |
Oliveira NI, Ribeiro EM, Raimondi SC, Bittencourt MA, Pasquini R, Cavalli IJ |
Leuk Res 2002 Nov;26(11):1047-9 |
PMID 12363475 |
Acute monoblastic leukemia as a second malignancy following chemotherapy for osteogenic sarcoma: a case report |
Orazi A, Sozzi G, Delia D, Morandi F, Rottoli L, Cattoretti G |
Pediatr Hematol Oncol 1988;5(1):39-46 |
PMID 3152950 |
The long-term durability of cytogenetic responses in patients with accelerated phase chronic myeloid leukemia treated with imatinib 600 mg: the GIMEMA CML Working Party experience after a 7-year follow-up |
Palandri F, Castagnetti F, Alimena G, Testoni N, Breccia M, Luatti S, Rege-Cambrin G, Stagno F, Specchia G, Martino B, Levato L, Merante S, Liberati AM, Pane F, Saglio G, Alberti D, Martinelli G, Baccarani M, Rosti G |
Haematologica 2009 Feb;94(2):205-12 |
PMID 19144656 |
Multiplex reverse transcription-polymerase chain reaction for simultaneous screening of 29 translocations and chromosomal aberrations in acute leukemia |
Pallisgaard N, Hokland P, Riishøj DC, Pedersen B, Jørgensen P |
Blood 1998 Jul 15;92(2):574-88 |
PMID 9657758 |
Cytogenetic findings in siblings with a myelodysplastic syndrome |
Palmer CG, Heerema NA, Greist A, Tricot G, Hoffman R |
Cancer Genet Cytogenet 1987 Aug;27(2):241-9 |
PMID 3594414 |
Acute myeloid leukemia with inv(8)(p11q13) |
Panagopoulos I, Teixeira MR, Micci F, Hammerstrøm J, Isaksson M, Johansson B, Mitelman F, Heim S |
Leuk Lymphoma 2000 Nov;39(5-6):651-6 |
PMID 11342350 |
Novel tandem triplication of 1q in a patient with a myelodysplastic syndrome |
Papenhausen PR, Wolkin-Friedman E, Pekzar-Wissner C |
Cancer Genet Cytogenet 1984 Jun;12(2):145-50 |
PMID 6722756 |
Myeloid neoplasia in children treated for solid tumours |
Pui CH, Hancock ML, Raimondi SC, Head DR, Thompson E, Wilimas J, Kun LE, Bowman LC, Crist WM, Pratt CB |
Lancet 1990 Aug 18;336(8712):417-21 |
PMID 1974952 |
Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions |
Quentin S, Cuccuini W, Ceccaldi R, Nibourel O, Pondarre C, Pagès MP, Vasquez N, Dubois d'Enghien C, Larghero J, Peffault de Latour R, Rocha V, Dalle JH, Schneider P, Michallet M, Michel G, Baruchel A, Sigaux F, Gluckman E, Leblanc T, Stoppa-Lyonnet D, Preudhomme C, Socié G, Soulier J |
Blood 2011 Apr 14;117(15):e161-70 |
PMID 21325596 |
Chromosomal abnormalities in 478 children with acute myeloid leukemia: clinical characteristics and treatment outcome in a cooperative pediatric oncology group study-POG 8821 |
Raimondi SC, Chang MN, Ravindranath Y, Behm FG, Gresik MV, Steuber CP, Weinstein HJ, Carroll AJ |
Blood 1999 Dec 1;94(11):3707-16 |
PMID 10572083 |
Recurrent cytogenetic abnormalities observed in complete remission of acute myeloid leukemia do not necessarily mark preleukemic cells |
Raynaud SD, Brunet B, Chischportich M, Bayle J, Gratecos N, Pesce A, Dujardin P, Flandrin G, Ayraud N |
Leukemia 1994 Feb;8(2):245-9 |
PMID 8309249 |
A chromosomal profile of polycythemia vera |
Rege-Cambrin G, Mecucci C, Tricot G, Michaux JL, Louwagie A, Van Hove W, Francart H, Van den Berghe H |
Cancer Genet Cytogenet 1987 Apr;25(2):233-45 |
PMID 3828970 |
Trisomy 1q in a case of essential thrombocythemia with long survival |
Richard C, Conde E, Garijo J, Iriondo A, Bello C, Zubizarreta A |
Cancer Genet Cytogenet 1987 Mar;25(1):185-6 |
PMID 3802054 |
Minimal residual disease in acute monocytic leukemia patient with trisomy 11 and partial tandem duplication of MLL |
Satake N, Sakashita A, Kobayashi H, Maseki N, Sakurai M, Kaneko Y |
Cancer Genet Cytogenet 1997 Jul 1;96(1):26-9 |
PMID 9209466 |
Involvement of chromosomes #1 and #11 in three cases with myeloproliferative diseases |
Schmid E, Köhler J |
Cancer Genet Cytogenet 1984 Jan;11(1):121-3 |
PMID 6580942 |
RT-PCR and FISH analysis of acute myeloid leukemia with t(8;16)(p11;p13) and chimeric MOZ and CBP transcripts: breakpoint cluster region and clinical implications |
Schmidt HH, Strehl S, Thaler D, Strunk D, Sill H, Linkesch W, Jäger U, Sperr W, Greinix HT, König M, Emberger W, Haas OA |
Leukemia 2004 Jun;18(6):1115-21 |
PMID 15085163 |
Occurrence of additional chromosome aberrations in chronic myeloid leukemia patients treated with imatinib mesylate |
Schoch C, Haferlach T, Kern W, Schnittger S, Berger U, Hehlmann R, Hiddemann W, Hochhaus A |
Leukemia 2003 Feb;17(2):461-3 |
PMID 12592348 |
Secondary acute myelogenous leukemia and myelodysplasia without abnormalities of chromosome 11q23 following treatment of acute leukemia with topoisomerase II-based chemotherapy |
Seiter K, Feldman EJ, Sreekantaiah C, Pozzuoli M, Weisberger J, Liu D, Papageorgio C, Weiss M, Kancherla R, Ahmed T |
Leukemia 2001 Jun;15(6):963-70 |
PMID 11417484 |
A t(11;14)(p13;q11) specific for T-cell malignancies in acute megakaryoblastic leukemia |
Shikano T, Kaneko T, Konishi T, Satake Y |
Cancer Genet Cytogenet 1995 Aug;83(1):42-5 |
PMID 7656203 |
[Abnormality of chromosome number 1 in 3 cases of acute transformation of chronic myeloid leukemia] |
Smadja N, Krulik M, Génot JY, Audebert AA, Debray J |
Nouv Rev Fr Hematol 1984;26(5):303-8 |
PMID 6594670 |
Dek-can rearrangement in translocation (6;9)(p23;q34) |
Soekarman D, von Lindern M, van der Plas DC, Selleri L, Bartram CR, Martiat P, Culligan D, Padua RA, Hasper-Voogt KP, Hagemeijer A, et al |
Leukemia 1992 Jun;6(6):489-94 |
PMID 1602786 |
Multiplex reverse transcriptase-polymerase chain reaction screening in childhood acute myeloblastic leukemia |
Strehl S, König M, Mann G, Haas OA |
Blood 2001 Feb 1;97(3):805-8 |
PMID 11157501 |
Karyotypic changes identified by HaeIII restriction endonuclease banding in a patient with M2 acute non-lymphoblastic leukemia |
Stuppia L, Palka G, Fioritoni G, Calabrese G, Guanciali Franchi P, D'Arcangelo L, Torlontano G |
Genes Chromosomes Cancer 1990 Mar;1(4):310-1 |
PMID 2278962 |
Chromosome 20q deletion: a recurrent cytogenetic abnormality in patients with chronic myelogenous leukemia in remission |
Sun J, Yin CC, Cui W, Chen SS, Medeiros LJ, Lu G |
Am J Clin Pathol 2011 Mar;135(3):391-7 |
PMID 21350093 |
Cytogenetic analysis of de novo acute myeloid leukemia with trilineage myelodysplasia in comparison with myelodysplastic syndrome evolving to acute myeloid leukemia |
Tamura S, Takemoto Y, Hashimoto-Tamaoki T, Mimura K, Sugahara Y, Senoh J, Furuyama JI, Kakishita E |
Int J Oncol 1998 Jun;12(6):1259-62 |
PMID 9592183 |
Frequent jumping translocations of chromosomal segments involving the ABL oncogene alone or in combination with CD3-MLL genes in secondary leukemias |
Tanaka K, Arif M, Eguchi M, Kyo T, Dohy H, Kamada N |
Blood 1997 Jan 15;89(2):596-600 |
PMID 9002963 |
Secondary acute myeloblastic leukaemia (AML) (expressing 11q23 mutation) occurring 11 months after chemotherapy/radiotherapy for paediatric non-Hodgkin lymphoma (NHL) |
Taylor HJ, Gravett P, Plowman PN |
Clin Oncol (R Coll Radiol) 2000;12(2):112-4 |
PMID 10853750 |
Cytogenetic studies, ras mutation, and clinical characteristics in primary myelodysplastic syndrome |
Tien HF, Wang CH, Chuang SM, Chow JM, Lee FY, Liu MC, Chen YC, Shen MC, Lin DT, Lin KH |
A study on 68 Chinese patients in Taiwan Cancer Genet Cytogenet |
PMID 8194046 |
Post-essential thrombocythemia myelofibrosis and chronic myelomonocytic leukemia can co-exist with complex cytogenetic abnormalities |
Trakhtenbrot L, Tohami T, Schiby G, Kneller A, Rosenthal E, Rosner E, Amariglio N, Salomon O |
Leuk Res 2010 Nov;34(11):e308-10 |
PMID 20655587 |
Incidence of malignancy and clonal chromosomal abnormalities in Fanconi anemia |
Vundinti BR, Korgaonkar S, Ghosh K |
Indian J Cancer 2010 Oct-Dec;47(4):397-9 |
PMID 21131752 |
Refined chromosome analysis as an independent prognostic indicator in de novo myelodysplastic syndromes |
Yunis JJ, Rydell RE, Oken MM, Arnesen MA, Mayer MG, Lobell M |
Blood 1986 Jun;67(6):1721-30 |
PMID 3708158 |
Infants with Down's syndrome |
de Alarcon PA, Patil S, Golberg J, Allen JB, Shaw S |
Use of cytogenetic studies and in vitro colony assay for granulocyte progenitor to distinguish acute nonlymphocytic leukemia from a transient myeloproliferative disorder Cancer |
PMID 2955884 |
Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid leukemia |
de Souza Fernandez T, Ornellas MH, Otero de Carvalho L, Tabak D, Abdelhay E |
Leuk Res 2000 Oct;24(10):839-48 |
PMID 10996202 |
Citation |
This paper should be referenced as such : |
Adriana Zamecnikova, Soad al Bahar |
dup(1)(q11-q44) in myeloid malignancies |
Atlas Genet Cytogenet Oncol Haematol. 2017;21(4):138-146. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Anomalies/dup1q11-q44ID1443.html |
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