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Written2018-02Adriana Zamecnikova
Kuwait Cancer Control Center, Kuwait

Abstract Dicentric chromosomes are recurrent finding in patients with hematological malignancies. The occurrence of dic(7;12), involving the short arms of chromosomes 7 and 12 is infrequent and has been reported mainly in pediatric B-cell acute lymphoblastic leukemia.

Keywords Dicentric chromosomes, genomic imbalance, 7p deletion, tumor suppressor genes.

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ICD-Topo C420,C421,C424
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9983/3 Refractory anaemia with excess blasts
ICD-Morpho 9873/3 AML without maturation
ICD-Morpho 9808/3 Mixed phenotype acute leukaemia, B/myeloid, NOS 152
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1816
  Figure 1. Partial karyotypes with dic(7;12)(p11.2;p11.2) (A). Fluorescence in situ hybridization (FISH) with LSI ETV6 break apart probe (Abott Molecular/Vysis, US) revealing deletion of ETV6 as a result of dicentric chromosome formation (B). Hybridization with CEP12 probe (Abott Molecular/Vysis, US) showed the presence of centromeric 12 signals on normal and dic(7;12) chromosomes (C). Simultaneous hybridization with LSI 7q31/CEP7 and CEP12 probes ((Abott Molecular/Vysis, US) confirmed the presence of chromosome 7 and 12 centromeres on dic(7;12) chromosome on metaphase and interphase cells (D&E).

Clinics and Pathology

Disease B-cell acute lymphoblastic leukemia (ALL) mainly.
Etiology Myeloid malignancies in 3 (3 males aged 52, 53 and 28 years): 1 refractory anemia with excess of blasts (RAEB) (Stevens-Kroef et al 2004), 1 acute myeloblastic leukemia without maturation (AML-M1) (Tapinassi et al., 2008) and 1 chronic myeloid leukemia (CML) (de Oliveira et al., 2012) patient.
Acute lymphoblastic leukemia in 16 (7 males and 9 females aged 1 to 50 years). Of these, 14 had B-lineage ALL (5 males and 9 females aged 1 to 40 years, median 3 years) (Raimondi et al., 1991; UKCCG 1992; Pui et al., 1993; Snyder et al., 1999; Silva et al., 2002; Raimondi et al., 2003; Russell et al., 2008; Holmfeldt et al., 2013; Olsson et al., 2015; Marincevic-Zuniga et al., 2016), 1 had T-ALL (an 11 years old male) (Raimondi et al., 1991) and one had bilineage or biphenotypic leukemia (a 50 years old male) (Matsumoto et al., 2009).
Epidemiology 19 reported patients (aged 1 to 53 years; median 9 years). Of these, there were 6 adult (aged 28 to 53 years, median 40 years) and 13 pediatric patients (aged 1 to 16 years, median 3 years).
Prognosis Simultaneous 7p and 12p deletions, found often together with complex karyotypes might indicate genomic instability and an adverse prognostic factor.


Cytogenetics Morphological Unbalanced rearrangement; the formation of a dicentric chromosome results in partial 7p/12p monosomies. Most patients had 7p11/12p12 (9 patients) and 7p11/12p11 (8 patients) breakpoints.
Additional anomalies Sole anomaly in 3 B-ALL patients (Holmfeldt et al., 2013; Olsson et al., 2015; Marincevic-Zuniga et al., 2016). Found in a sideline with del(7)(p11),del(12)(p11) in AML-M1 (Tapinassi et al., 2008), in association with (9;22)(q34;q11),i(12)(q10) in CML (de Oliveira et al., 2012) and complex karyotype in the RAEB patient (Stevens-Kroef et al., 2004). Found with del(1q) in 2 (Raimondi et al., 1991; Raimondi et al., 2003), del(9p) in 1 (Raimondi et al., 1991), del(6q) in 1 (Raimondi et al., 2003), miscellaneous anomalies in 3 (Raimondi et al., 1991; Matsumoto et al., 2009) and with complex karyotypes in 6 ALL patients (UKCCG 1992; Pui et al., 1993; Snyder et al., 1999; Silva et al., 2002; Russell et al., 2008; Olsson et al., 2015).

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Structural 12p anomalies are observed in a broad spectrum of haematological malignancies including myeloid malignancies and acute lymphoblastic leukemia. Various aberrations result in an abnormal 12p, including balanced translocations, deletions and formation of dicentric chromosomes. Dicentric chromosomes involving 12p are associated with loss of 12p material that most often include the ETV6 (TEL) gene localized in 12p13.2. A lot of partner chromosomes are described; of these dic(7;12) involving the short arms of chromosomes 7 and 12 is relatively infrequent. The genetic consequences of this dicentric chromosome are partial monosomies of 7p and 12p resulting in concomitant deletions of tumor suppressor genes from both chromosomes. dic(7;12) is a rare but recurrent chromosomal abnormality that has been described mainly in acute lymphoblastic leukemia of B-lineage and may represent a distinct cytogenetic subgroup in pediatric ALL.

To be noted



The genomic landscape of hypodiploid acute lymphoblastic leukemia
Holmfeldt L, Wei L, Diaz-Flores E, Walsh M, Zhang J, Ding L, Payne-Turner D, Churchman M, Andersson A, Chen SC, McCastlain K, Becksfort J, Ma J, Wu G, Patel SN, Heatley SL, Phillips LA, Song G, Easton J, Parker M, Chen X, Rusch M, Boggs K, Vadodaria B, Hedlund E, Drenberg C, Baker S, Pei D, Cheng C, Huether R, Lu C, Fulton RS, Fulton LL, Tabib Y, Dooling DJ, Ochoa K, Minden M, Lewis ID, To LB, Marlton P, Roberts AW, Raca G, Stock W, Neale G, Drexler HG, Dickins RA, Ellison DW, Shurtleff SA, Pui CH, Ribeiro RC, Devidas M, Carroll AJ, Heerema NA, Wood B, Borowitz MJ, Gastier-Foster JM, Raimondi SC, Mardis ER, Wilson RK, Downing JR, Hunger SP, Loh ML, Mullighan CG
Nat Genet 2013 Mar;45(3):242-52
PMID 23334668
PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia
Marincevic-Zuniga Y, Zachariadis V, Cavelier L, Castor A, Barbany G, Forestier E, Fogelstrand L, Heyman M, Abrahamsson J, Lönnerholm G, Nordgren A, Syvänen AC, Nordlund J
Haematologica 2016 Jan;101(1):e20-3
PMID 26494837
Monosomies 7p and 12p and FLT3 internal tandem duplication: possible markers for diagnosis of T/myeloid biphenotypic acute leukemia and its clonal evolution
Matsumoto Y, Taki T, Fujimoto Y, Taniguchi K, Shimizu D, Shimura K, Uchiyama H, Kuroda J, Nomura K, Inaba T, Shimazaki C, Horiike S, Taniwaki M
Int J Hematol 2009 Apr;89(3):352-358
PMID 19308660
Cooperative genetic changes in pediatric B-cell precursor acute lymphoblastic leukemia with deletions or mutations of IKZF1
Olsson L, Albitar F, Castor A, Behrendtz M, Biloglav A, Paulsson K, Johansson B
Genes Chromosomes Cancer 2015 May;54(5):315-25
PMID 25727050
Immunophenotypes and karyotypes of leukemic cells in children with Down syndrome and acute lymphoblastic leukemia
Pui CH, Raimondi SC, Borowitz MJ, Land VJ, Behm FG, Pullen DJ, Hancock ML, Shuster JJ, Steuber CP, Crist WM, et al
J Clin Oncol 1993 Jul;11(7):1361-7
PMID 8315434
New recurring chromosomal translocations in childhood acute lymphoblastic leukemia
Raimondi SC, Privitera E, Williams DL, Look AT, Behm F, Rivera GK, Crist WM, Pui CH
Blood 1991 May 1;77(9):2016-22
PMID 2018838
t(6;14)(p22;q32): a new recurrent IGH@ translocation involving ID4 in B-cell precursor acute lymphoblastic leukemia (BCP-ALL)
Russell LJ, Akasaka T, Majid A, Sugimoto KJ, Loraine Karran E, Nagel I, Harder L, Claviez A, Gesk S, Moorman AV, Ross F, Mazzullo H, Strefford JC, Siebert R, Dyer MJ, Harrison CJ
Blood 2008 Jan 1;111(1):387-91
PMID 17940204
Cytogenetic analysis of 100 consecutive newly diagnosed cases of acute lymphoblastic leukemia in Rio de Janeiro
Silva ML, Ornellas de Souza MH, Ribeiro RC, Land MG, Boulhosa de Azevedo AM, Vasconcelos F, Otero L, Vasconcelos Z, Bouzas LF, Abdelhay E
Cancer Genet Cytogenet 2002 Sep;137(2):85-90
PMID 12393277
Long-term follow-up of 23 patients with Philadelphia chromosome-positive acute lymphoblastic leukemia treated with allogeneic bone marrow transplant in first complete remission
Snyder DS, Nademanee AP, O'Donnell MR, Parker PM, Stein AS, Margolin K, Somlo G, Molina A, Spielberger R, Kashyap A, Fung H, Slovak ML, Dagis A, Negrin RS, Amylon MD, Blume KG, Forman SJ
Leukemia 1999 Dec;13(12):2053-8
PMID 10602428
Translocation t(2;3)(p15-23;q26-27) in myeloid malignancies: report of 21 new cases, clinical, cytogenetic and molecular genetic features
Stevens-Kroef M, Poppe B, van Zelderen-Bhola S, van den Berg E, van der Blij-Philipsen M, Geurts van Kessel A, Slater R, Hamers G, Michaux L, Speleman F, Hagemeijer A
Leukemia 2004 Jun;18(6):1108-14
PMID 15085164
A new dic(7;12)(p12
Tapinassi C, Gerbino E, Malazzi O, Micucci C, Gasparini P, Najera MJ, Calasanz MJ, Odero MD, Pelicci PG, Belloni E
21;p12 2) chromosome aberration in a case of acute myeloid leukemia
PMID 18722879
United Kingdom Cancer Cytogenetics Group (UKCCG)
Translocations involving 9p and/or 12p in acute lymphoblastic leukemia
Genes Chromosomes Cancer 1992 Oct;5(3):255-9
PMID 1384680
A new dic(7;12)(p12
de Oliveira FM, de Carvalho Palma L, Falcão RP, Simões BP
21;p12 2) and i(12)(q10) during the lymphoid blast crisis of patient with Ph+ chronic myeloid leukemia
PMID 22209840


This paper should be referenced as such :
Adriana Zamecnikova
Atlas Genet Cytogenet Oncol Haematol. 2019;23(3):62-64.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databasedic(7;12)(p10-p12;p11-p13)
arrayMap (UZH-SIB Zurich)Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9983/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9873/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9808/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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