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Written2018-03Adriana Zamecnikova
Kuwait Cancer Control Center, Kuwait

Abstract The unbalanced der(2)t(1;2)(q12-21;q37) is a rare anomaly in hematological malignancies with unknown clinical significance.

Keywords Unbalanced 1q translocations, der(2)t(1;2)(q12-21;q37), genomic imbalance, secondary genetic events.

(Note : for Links provided by Atlas : click)


ICD-Topo C420,C421,C424
ICD-Morpho 9980/3 Refractory anemia
ICD-Morpho 9872/3 AML with minimal differentiation; Myeloid sarcoma
ICD-Morpho 9801/3 Acute undifferentiated leukaemia
ICD-Morpho 9891/3 Acute monoblastic and monocytic leukaemia
ICD-Morpho 9690/3 Follicular lymphoma; Paediatric follicular lymphoma
ICD-Morpho 9680/3 Diffuse large B-cell lymphoma (DLBCL), NOS; Primary DLBCL of the CNS; Primary cutaneous DLBCL, leg type; EBV positive DLBCL of the elderly; DLBCL associated with chronic inflammation; B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and Burkitt lymphoma
ICD-Morpho 9732/3 Plasma cell myeloma / Multiple myeloma
Atlas_Id 1821
  Partial karyotypes showing the unbalanced rearrangement between chromosomes 1 and 2.

Clinics and Pathology

Disease Acute myeloid leukemia (AML), multiple myeloma (MM) and less frequently lymphoid malignancies.
Phenotype / cell stem origin Myeloid malignancies in 5 (3 males and 2 females): 1 Fanconi anemia patient with refractory anemia (RA) (Huret et al., 1988), 1 AML (Raimondi et al 1999), 1 acute myeloblastic leukemia with minimal differentiation (AML-M0) and 2 acute monoblastic leukemia patients (AML-M5) (Busson Le Coniat et al., 2000; Cerveira et al., 2012).
Multiple myeloma in 8 (3 males and 5 females) (Smadja et al., 2001; Sawyer et al., 2014; Rack et al., 2016).
Lymphoid malignancies in 5 (4 males and 1 female): 2 acute lymphoblastic leukemia (ALL) (1 with 1q12-21 breakpoint) (Busson-Le Coniat et al., 1999; Kim et al., 2011) 2 follicular lymphoma (Gray et al., 1997; Cheung et al., 2012) and 1 diffuse large B-cell lymphoma (DLBCL) (Jerkeman et al., 1999).
Epidemiology 10 males and 8 females aged 21 to 81 years (median 69 years); male prevalence in patients with lymphoid malignancies (2 males in ALL and 3 males/1 female in lymphomas), aged 51, 69 and 71 years, 2 unknown. Patient with myeloid malignancies were aged 21, 68, 77 and 81 years, 1 unknown; the age of MM patients is unknown.
Prognosis The Fanconi anemia patient received androgen therapy. He developed refractory anemia 4 years later that was treated with corticosteroids and antibiotics, but after recurrent infections he died from pneumonia 4 years later. The patient with acute monoblastic leukemia and t(11;19)(q23;p13) was treated with chemotherapy but failed to achieve remission; after receiving allogenic bone marrow transplant he is alive 23+ months. 2 AML patients had highly complex karyotypes, considered as an adverse prognostic factor in AML. Similarly, in patients with MM or lymphoid malignancies and highly complex karyotypes, the prognosis is likely unfavorable.


Cytogenetics Morphological Unbalanced rearrangement resulting in 1q trisomy.
Additional anomalies Found in association with del(5q) in MDS, 11q23/ KMT2A (MLL)/ MLLT1 in acute monoblastic leukemia, as an additional anomaly to t(9;22) in 1 AML and in both ALL cases and as an additional aberration to t(14;18) in 2 lymphoma patients; found as part of highly complex karyotypes in the remaining patients.

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis A non-random structural gain of 1q is a known structural anomaly in hematopoietic malignancies, and it is often the result of an unbalanced chromosome translocation. The breakpoints within 1q show considerable variation from 1q11 to 1q43, with a clustering to 1q12-23. Various unbalanced 1q translocation partners have been described, among them, the der(2)t(1;2)(q12-21;q37) has been detected accompanied with other chromosome abnormalities, therefore it is likely a secondary genetic event. The major consequence of this unbalanced chromosome translocation is the genomic imbalance resulting from the gain of the long arm of chromosome 1q.


Interstitial telomere repeats in translocations of hematopoietic disorders
Busson Le Coniat M, Brizard F, Smadja NV, Maarek O, Der Sarkissian H, Berger R
Leukemia 2000 Sep;14(9):1630-3
PMID 10995010
Genetic and clinical characterization of 45 acute leukemia patients with MLL gene rearrangements from a single institution
Cerveira N, Lisboa S, Correia C, Bizarro S, Santos J, Torres L, Vieira J, Barros-Silva JD, Pereira D, Moreira C, Meyer C, Oliva T, Moreira I, Martins , Viterbo L, Costa V, Marschalek R, Pinto A, Mariz JM, Teixeira MR
Mol Oncol 2012 Oct;6(5):553-64
PMID 22846743
SNP analysis of minimally evolved t(14;18)(q32;q21)-positive follicular lymphomas reveals a common copy-neutral loss of heterozygosity pattern
Cheung KJ, Rogic S, Ben-Neriah S, Boyle M, Connors JM, Gascoyne RD, Horsman DE
Cytogenet Genome Res 2012;136(1):38-43
PMID 22104078
Fluorescence in situ hybridization assessment of the telomeric regions of jumping translocations in a case of aggressive B-cell non-Hodgkin lymphoma
Gray BA, Bent-Williams A, Wadsworth J, Maiese RL, Bhatia A, Zori RT
Cancer Genet Cytogenet 1997 Oct 1;98(1):20-7
PMID 9309114
Karyotype evolution in the bone marrow of a patient with Fanconi anemia: breakpoints in clonal anomalies of this disease
Huret JL, Tanzer J, Guilhot F, Frocrain-Herchkovitch C, Savage JR
Cytogenet Cell Genet 1988;48(4):224-7
PMID 3248378
Prognostic implications of cytogenetic aberrations in diffuse large B-cell lymphomas
Jerkeman M, Johansson B, Akerman M, Cavallin-Ståhl E, Kristoffersson U, Mitelman F
Eur J Haematol 1999 Mar;62(3):184-90
PMID 10089896
PAX5 deletion is common and concurrently occurs with CDKN2A deletion in B-lineage acute lymphoblastic leukemia
Kim M, Choi JE, She CJ, Hwang SM, Shin HY, Ahn HS, Yoon SS, Kim BK, Park MH, Lee DS
Blood Cells Mol Dis 2011 Jun 15;47(1):62-6
PMID 21549623
Genomic profiling of myeloma: the best approach, a comparison of cytogenetics, FISH and array-CGH of 112 myeloma cases
Rack K, Vidrequin S, Dargent JL
J Clin Pathol 2016 Jan;69(1):82-6
PMID 26338801
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
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
Hypodiploidy is a major prognostic factor in multiple myeloma
Smadja NV, Bastard C, Brigaudeau C, Leroux D, Fruchart C; Groupe Français de Cytogénétique Hématologique
Blood 2001 Oct 1;98(7):2229-38
PMID 11568011


This paper should be referenced as such :
Adriana Zamecnikova
Atlas Genet Cytogenet Oncol Haematol. 2019;23(5):124-125.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(1;2)(q12-21;q37)
arrayMap (UZH-SIB Zurich)Morph ( 9980/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9872/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9801/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9891/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9690/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9680/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9732/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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