| 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 der(1)t(1;1)(p36;q11-q32) in hematopoietic malignancies, with data on clinics, and the genes involved. |
| 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 | 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable |
| ICD-Morpho | 9989/3 Myelodysplastic syndrome, unclassifiable |
| ICD-Morpho | 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS |
| ICD-Morpho | 9811/3 B lymphoblastic leukaemia/lymphoma, NOS |
| ICD-Morpho | 9732/3 Plasma cell myeloma / Multiple myeloma |
| ICD-Morpho | 9733/3 |
| ICD-Morpho | 9823/3 Chronic lymphocytic leukaemia /small lymphocytic lymphoma |
| Atlas_Id | 1644 |
 | |
| Clinics and Pathology |
| Disease | Chronic myeloproliferative neoplasms (MPN), acute myeloid leukemia, acute lymphoblastic leukemia (ALL) and multiple myeloma (MM). | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phenotype / cell stem origin | 34 patients, mainly myeloid malignancies (19 cases). 10 patients had lymphoid malignancies (8 ALL, 1 chronic lymphocytic leukemia (CLL) and 1 plasma cell leukemia (PCL) and there were 5 MM cases (Table 1). Chronic myeloproliferative neoplasms 5 patients: 1 polycythemia vera (PV) who progressed to myelofibrosis (MF) 27 years later (Duhoux et al., 2011), 1 chronic eosinophilic leukemia (CEL) (Duhoux et al., 2011), 1 chronic myeloid leukemia (CML) (Phan et al., 2006) and 2 patients with myelodysplastic syndrome (MDS) (Caramazza et al., 2010; Duhoux et al., 2011). Acute myeloid leukemia 14 patients, mainly with myelomonocytic-lineage: 1 acute myeloblastic leukemia with maturation (Fugazza et al., 1997), 2 acute myelomonocytic leukemia (Michalova et al., 1999; Duhoux et al., 2011), one of them progressed from MDS (Michalova et al., 1999). From the 6 acute monocytic leukemia cases (Chessells et al., 2002; Picos-Cardenas et al., 2002; Scrideli et al., 2005; Noguchi et al., 2007; Duhoux et al., 2011; Sarova et al 2013), 1 progressed from MDS (Duhoux et al., 2011), 1 was a case with Down syndrome (DS) (Picos-Cardenas et al., 2002) and there were 2 infants (Chessells et al., 2002; Scrideli et al., 2005), one of them with partial trisomy 1q syndrome (Scrideli et al., 2005). 1 patient was diagnosed with acute megakaryoblastic leukemia (Preiss et al., 2006) and there were 4 AML unspecified patients (Duhoux et al., 2011; Blink et al 2012), 3 of them infants, among them one with DS (Blink et al., 2012). Acute lymphoblastic leukemia 8 patients (Shikano et al.,1994; Uckun et al 1998; Bruch et al 2003; Paulsson et al 2010; Schmidt-Hieber et al 2010; Duhoux et al 2011; Subramaniyam et al 2011; Safavi et al 2015) with predominantly B-cell phenotype. There were 5 children (Shikano et al.,1994; Uckun et al 1998; Paulsson et al 2010; Duhoux et al., 2011) , one of them an infant patient (Bruch et al., 2003). Various B-cell hematological neoplasms: 5 MM (Rajkumar et al., 1999; Bang et al., 2006; Vekemans et al., 2010; Sawyer et al., 2014), 1 CLL (Nordgren et al., 2000) and 1 plasma cell leukemia (Bastard et al.,1991) patient. Table 1. Reported patients with der(1)t(1;1)(p36;q11-32).
Abbreviations: Ref., references; M., male; F., female; CML., chronic myeloid leukemia; MDS., myelodysplastic syndrome; CEL., chronic eosinophilic leukemia; PV., polycythemia vera; MF.,myelofibrosis; acute myeloid leukemia; AML-M2., acute myeloblastic leukemia with maturation., AML-M4., acute myelomonocytic leukemia., AML-M5., acute monoblastic leukemia; AML-M7., acute megakaryoblastic leukemia AML., acute myeloid leukemia; ALL., aAcute lymphoblastic leukemia/lymphoblastic lymphoma; BMT., bone marrow transplantation; PCL., plasma cell leukemia; MM., multiple myeloma; CLL., chronic lymphocytic leukemia. 1.Phan et al., 2006; 2.Caramazza et al., 2010; 3-5, 13-17,25.Duhoux et al., 2011; 6.Fugazza et al., 1997; 7.Michalova et al., 1999; 8.Chessells et al., 2002; 9.Picos-Cardenas et al., 2002; 10.Scrideli et al., 2005; 11.Preiss et al., 2006; 12.Noguchi et al., 2007; 18.Blink et al., 2012; 19.Sarova et al., 2013; 20.Shikano et al.,1994; 21.Uckun et al., 1998; 22.Bruch et al., 2003; 23.Paulsson et al., 2010; 24.Schmidt-Hieber et al 2010; 26.Subramaniyam et al., 2011; 27.Safavi et al., 2015; 28.Bastard et al.,1991; 29.Rajkumar et al., 1999; 30.Nordgren et al., 2000; 31.Bang et al., 2006; 32.Vekemans et al., 2010; 33-34.Sawyer et al., 2014. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidemiology | 20 male and 14 female patients (sex ratio 1.4) with median age of 60 years (range 0 to 83 years). Balanced sex ratio in myeloid malignancies (10M/9F) and male prevalence in ALL cases (7M/1F, sex ratio 7). There were 10 pediatric cases (aged 0 to 12 years) in AML and ALL groups, 6 of them were infants (5 AML and 1 ALL cases). | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prognosis | Patients with 1p36 / PRDM16 translocations and/or terminal 1p36 deletions seems to have a poor prognosis despite a simple karyotype (Duhoux et al., 2011). In addition, there seems to be an over-representation of complex karyotypes that in association with an unbalanced rearrangement may reflect genomic instability correlated with an unfavorable outcome. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytogenetics |
| Cytogenetics Morphological | Presents as one normal chromosome 1 and a der(1)t(1;1) chromosome, resulting in partial 1q trisomy. Heterogeneous cytogenetic presentation with q11-32 breakpoints on 1q. |
| Additional anomalies | Sole anomaly in 6 myeloid disorders: 1 MDS (Duhoux et al., 2011) and 5 AML (Noguchi et al 2007; Duhoux et al 2011). Two or several independent clones were found in 2 MPN (Caramazza et al., 2010; Duhoux et al., 2011) and 2 AML cases (Michalova et al., 1999; Chessells et al., 2002). Associated with chromosome 5 and/or 7 anomalies in 4 AML (Fugazza et al., 1997; Picos-Cardenas et al., 2002; Preiss et al., 2006; Duhoux et al., 2011) and with t(9;22)(q34;q11) in 1 CML (Phan et al 2006) and 2 ALL cases (Uckun etal 1998; Schmidt-Hieber et al 2010). Very complex karyotypes (≥5 abnormalities) were observed in 15 patients (Bastard et al.,1991; Fugazza et al., 1997; Rajkumar et al., 1999; Bang et al., 2006; Phan et al., 2006; Preiss et al., 2006; Nordgren et al., 2000; Schmidt-Hieber et al., 2010; Vekemans et al., 2010; Duhoux et al., 2011; Subramaniyam et al., 2011; Sawyer et al., 2014; Safavi et al 2015) while there seems to be an over-representation of complex anomalies in AML, ALL and B-cell hematological neoplasms. |
| Result of the chromosomal anomaly |
| Oncogenesis | The chromosomal translocation der(1)t(1;1)(p36;q11-q32) is a nonrandom event in both myeloid and lymphoid neoplasias (Lestou et al., 2003; Duhoux et al.,2012). While the cytogenetic presentation is heterogeneous and there is a marked variability in 1q and 1p36 breakpoints, the common impact of this rearrangement is duplication of 1q sequences through formation of an unbalanced translocation. In addition, 1p36 alterations are frequent in hematological malignancies, suggesting that the region is harboring gene(s) important in oncogenesis. One of the genes that may be functionally disrupted is the PRDM16 (PR domain containing 16; also known as MEL1 and MDS1/EVI1-like) gene, the main target of 1p36 rearrangements (Duhoux et al., 2012; Matsuo et al., 2015). Among them, PRDM16 have been found to be rearranged with the DUSP10 (dual specificity phosphatase 10) gene in der(1)t(1;1)(p36.3;q21) in AML (Noguchi et al.,2007), raising the possibility that PRDM16 may be activated by chromosomal rearrangements involving genes on 1q, at least in some patients. Other candidate genes that have been mapped in the 1p36 region are tumor suppressor genes that might be deleted as a consequence of the unbalanced rearrangement. Terminal 1p36 deletions are frequent in both myeloid and lymphoid malignancies, indicating inactivation of tumor suppressor genes may be the common oncogenic mechanism in these diseases (Duhoux et al., 2011). It is likely, that patients with der(1)t(1;1)(p36;q11-32) undergo mixed duplication and deletion events associated with formation of the unbalanced translocation. |
| Bibliography |
| Identification of 13q deletion, trisomy 1q, and IgH rearrangement as the most frequent chromosomal changes found in Korean patients with multiple myeloma |
| Bang SM, Kim YR, Cho HI, Chi HS, Seo EJ, Park CJ, Yoo SJ, Kim HC, Chun HG, Min HC, Oh BR, Kim TY, Lee JH, Lee DS |
| Cancer Genet Cytogenet 2006 Jul 15;168(2):124-32 |
| PMID 16843102 |
| Chromosomal abnormalities in two cases of plasma cell leukemia |
| Bastard C, Tilly H, Bizet M, Lenormand B, Monconduit M, Piguet H |
| Cancer Genet Cytogenet 1991 Mar;52(1):135-8 |
| PMID 2053971 |
| High frequency of copy number alterations in myeloid leukaemia of Down syndrome |
| Blink M, van den Heuvel-Eibrink MM, Aalbers AM, Balgobind BV, Hollink IH, Meijerink JP, van der Velden VH, Beverloo BH, de Haas V, Hasle H, Reinhardt D, Klusmann JH, Pieters R, Calado RT, Zwaan CM |
| Br J Haematol 2012 Sep;158(6):800-3 |
| PMID 22775985 |
| Occurrence of an MLL/LAF4 fusion gene caused by the insertion ins(11;2)(q23;q11 |
| Bruch J, Wilda M, Teigler-Schlegel A, Harbott J, Borkhardt A, Metzler M |
| 2q11 2) in an infant with acute lymphoblastic leukemia |
| PMID 12661012 |
| Trisomy 11: prevalence among 22,403 unique patient cytogenetic studies and clinical correlates |
| Caramazza D, Ketterling RP, Knudson RA, Hanson CA, Siragusa S, Pardanani A, Tefferi A |
| Leukemia 2010 May;24(5):1092-4 |
| PMID 20357821 |
| Clinical features, cytogenetics and outcome in acute lymphoblastic and myeloid leukaemia of infancy: report from the MRC Childhood Leukaemia working party |
| Chessells JM, Harrison CJ, Kempski H, Webb DK, Wheatley K, Hann IM, Stevens RF, Harrison G, Gibson BE; MRC Childhood Leukaemia working party |
| Leukemia 2002 May;16(5):776-84 |
| PMID 11986937 |
| PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies |
| Duhoux FP, Ameye G, Montano-Almendras CP, Bahloula K, Mozziconacci MJ, Laibe S, Wlodarska I, Michaux L, Talmant P, Richebourg S, Lippert E, Speleman F, Herens C, Struski S, Raynaud S, Auger N, Nadal N, Rack K, Mugneret F, Tigaud I, Lafage M, Taviaux S, Roche-Lestienne C, Latinne D, Libouton JM, Demoulin JB, Poirel HA; Groupe Francophone de Cytogénétique Hématologique (GFCH); Belgian Cytogenetic Group for Haematology and Oncology (BCG-HO) |
| Br J Haematol 2012 Jan;156(1):76-88 |
| PMID 22050763 |
| Amplified c-MYC sequences localized by fluorescence in-situ hybridization on double minute chromosomes in acute myeloid leukemias |
| Fugazza G, Bruzzone R, Puppo L, Patrone F, Sessarego M |
| Leuk Res 1997 Aug;21(8):703-9 |
| PMID 9379677 |
| Characterization of the recurrent translocation t(1;1)(p36 |
| Lestou VS, Ludkovski O, Connors JM, Gascoyne RD, Lam WL, Horsman DE |
| 3;q21 1-2) in non-Hodgkin lymphoma by multicolor banding and fluorescence in situ hybridization analysis |
| PMID 12619161 |
| The subtype-specific features of EVI1 and PRDM16 in acute myeloid leukemia |
| Matsuo H, Goyama S, Kamikubo Y, Adachi S |
| Haematologica 2015 Mar;100(3):e116-7 |
| PMID 25740107 |
| Double minute chromosomes in a patient with myelodysplastic syndrome transforming into acute myeloid leukemia |
| Michalová K, Cermák J, Brezinová J, Zemanová Z |
| Cancer Genet Cytogenet 1999 Feb;109(1):76-8 |
| PMID 9973965 |
| Dual-specificity phosphatase 10 is fused to MDS1/EVI1-like gene 1 in a case of acute myelogenous leukemia with der1t1;1(p36 |
| Noguchi M, Tashiro H, Shirasaki R, Gotoh M, Kawasugi K, Shirafuji N |
| 3;q21) Int J Hematol |
| PMID 17321999 |
| New chromosomal breakpoints in non-Hodgkin's lymphomas revealed by spectral karyotyping and G-banding |
| Nordgren A, Sørensen AG, Tinggaard-Pedersen N, Blennow E, Larsson C, Lagercrantz S |
| Int J Mol Med 2000 May;5(5):485-92 |
| PMID 10762651 |
| Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia |
| Paulsson K, Forestier E, Lilljebjörn H, Heldrup J, Behrendtz M, Young BD, Johansson B |
| Proc Natl Acad Sci U S A 2010 Dec 14;107(50):21719-24 |
| PMID 21098271 |
| Unique secondary chromosomal abnormalities are frequently found in the chronic phase of chronic myeloid leukemia in southern Vietnam |
| Phan TX, Hoang AV, Huynh VM, Nguyen KT, Nguyen TB, Huynh N, Pham QT, Tran VB, Tran VB, Tokunaga K, Sato Y |
| Cancer Genet Cytogenet 2006 Jul 1;168(1):59-68 |
| PMID 16772122 |
| Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia |
| Picos-Cárdenas VJ, Meza-Espinoza JP, Gutiérrez-Angulo M, Esparza-Flores MA, Ayala-Madrigal ML, Hansmann I, González GJ |
| Cancer Genet Cytogenet 2002 Apr 15;134(2):138-41 |
| PMID 12034527 |
| Contribution of multiparameter genetic analysis to the detection of genetic alterations in hematologic neoplasia |
| Preiss BS, Kerndrup GB, Pedersen RK, Hasle H, Pallisgaard N; Lymphoma-Leukemia Study Group of the Region of Southern Denmark |
| An evaluation of combining G-band analysis, spectral karyotyping, and multiplex reverse-transcription polymerase chain reaction (multiplex RT-PCR) Cancer Genet Cytogenet |
| PMID 16490591 |
| Cytogenetic abnormalities correlate with the plasma cell labeling index and extent of bone marrow involvement in myeloma |
| Rajkumar SV, Fonseca R, Dewald GW, Therneau TM, Lacy MQ, Kyle RA, Greipp PR, Gertz MA |
| Cancer Genet Cytogenet 1999 Aug;113(1):73-7 |
| PMID 10459351 |
| Novel gene targets detected by genomic profiling in a consecutive series of 126 adults with acute lymphoblastic leukemia |
| Safavi S, Hansson M, Karlsson K, Biloglav A, Johansson B, Paulsson K |
| Haematologica 2015 Jan;100(1):55-61 |
| PMID 25261097 |
| Characterization of chromosome 11 breakpoints and the areas of deletion and amplification in patients with newly diagnosed acute myeloid leukemia |
| Sarova I, Brezinova J, Zemanova Z, Bystricka D, Krejcik Z, Soukup P, Vydra J, Cermak J, Jonasova A, Michalova K |
| Genes Chromosomes Cancer 2013 Jul;52(7):619-35 |
| PMID 23580398 |
| Jumping translocations of 1q12 in multiple myeloma: a novel mechanism for deletion of 17p in cytogenetically defined high-risk disease |
| Sawyer JR, Tian E, Heuck CJ, Epstein J, Johann DJ, Swanson CM, Lukacs JL, Johnson M, Binz R, Boast A, Sammartino G, Usmani S, Zangari M, Waheed S, van Rhee F, Barlogie B |
| Blood 2014 Apr 17;123(16):2504-12 |
| PMID 24497533 |
| Cytogenetic studies in acute leukemia patients relapsing after allogeneic stem cell transplantation |
| Schmidt-Hieber M, Blau IW, Richter G, Türkmen S, Bommer C, Thiel G, Neitzel H, Stroux A, Uharek L, Thiel E, Blau O |
| Cancer Genet Cytogenet 2010 Apr 15;198(2):135-43 |
| PMID 20362228 |
| Acute monocytic leukemia and multiple abnormalities in a child with duplication of 1q detected by GTG-banding and SKY |
| Scrideli CA, Baruffi MR, Squire JA, Ramos ES, Karaskova J, Heck B, Tone LG |
| Leuk Res 2005 Dec;29(12):1465-7 |
| PMID 15964069 |
| Acute lymphoblastic leukemia and non-Hodgkin's lymphoma with mediastinal mass--a study of 23 children; different disorders or different stages? Leuk Lymphoma |
| Shikano T, Arioka H, Kobayashi R, Naito H, Ishikawa Y, Nakadate H, Hatae Y, Takeda T |
| 1994 Mar;13(1-2):161-7 |
| PMID 8025517 |
| Clinical significance of Philadelphia chromosome positive pediatric acute lymphoblastic leukemia in the context of contemporary intensive therapies: a report from the Children's Cancer Group |
| Uckun FM, Nachman JB, Sather HN, Sensel MG, Kraft P, Steinherz PG, Lange B, Hutchinson R, Reaman GH, Gaynon PS, Heerema NA |
| Cancer 1998 Nov 1;83(9):2030-9 |
| PMID 9806664 |
| The t(14;20)(q32;q12): a rare cytogenetic change in multiple myeloma associated with poor outcome |
| Vekemans MC, Lemmens H, Delforge M, Doyen C, Pierre P, Demuynck H, Bries G, Lemmens J, Meeus P, Straetmans N, Bauwens D, Vidrequin S, Rack K, Vandenberghe P, Wlodarska I, Michaux L |
| Br J Haematol 2010 Jun;149(6):901-4 |
| PMID 20148877 |
| Citation |
| This paper should be referenced as such : |
| Zamecnikova A, al Bahar S |
| der(1)t(1;1)(p36;q11-q32) in hematopoietic malignancies; |
| Atlas Genet Cytogenet Oncol Haematol. in press |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0101p36q11q32ID1644.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(1;1)(p36;q11-q32) | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Mar 16 15:48:56 CET 2018 |
For comments and suggestions or contributions, please contact us