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dic(7;12)(p10-p12;p11-p13)

Written2018-02Adriana Zamecnikova
Kuwait Cancer Control Center, Kuwait annaadria@yahoo.com

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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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 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

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.
  

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Citation

This paper should be referenced as such :
Zamecnikova A
dic(7;12)(p10-p12;p11-p13);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/dic07p12pID1816.html


Translocations implicated (Data extracted from papers in the Atlas)

 dic(7;12)(p10-p12;p11-p13)

External links

Mitelman databasedic(7;12)(p10-p12;p11-p13) [Case List]    dic(7;12)(p10-p12;p11-p13) [Transloc-MCList]
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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