t(1;19)(p13;p13.1)

Abstract

Review on t(1;19)(p13;p13.1), with data on clinics.

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Identity

ICD-Topo	C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho	9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho	9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho	9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id	1230

Clinics and Pathology

Disease	Myeloid malignancies.
Epidemiology	Only 5 cases to date. Table 1. Reported patients with der(1)t(1;19)(p13;p13.1) Abbreviations: F, female; M, male; AML, Acute myeloid leukemia; MDS, myelodysplastic syndrome; post PV-MF, post polycytemic myelofibrosis   Sex Age Chromosomal anomalies Diagnosis Reference 1 M 36 40-46,XY,+der(1)t(1;19)(p13;p13.1) AML-M1 Ma et al; 2000 2 F 1 47,XX,+der(1)t(1;19)(p13;p13.1),der(10)inv(10)(p2?5q25)t(10;11)(q25;q25),der(11)t(10;11) AML- M5a Tchinda et al; 2002 3 F 21 47,XX,+der(1)t(1;19)(p13;p13.1) MDS Tchinda et al; 2002 4 F 60 47,XX,+der(1)t(1;19)(p13;p13.1) MDS Suh et al; 2009 5 F 77 47,XX,+der(1)t(1;19)(p13;p13.1) Post PV-MF Suh et al; 2009
Clinics	2 patients with acute myeloid leukemia (AML): a 1 year-old infant with M5a AML (Tchinda et al; 2002) and a 36 year-old male patient with AML-M1 (Ma et al; 2000), one 77-year-old female patient with post-polycythemic myelofibrosis (Suh et al; 2009) and 2 myelodysplastic syndrome (MDS) patients with refractory anemia with ringed sideroblasts (RARS): a 21 year-old female with a suspicion of Fanconi anemia 11 years before diagnosis of RARS (Tchinda et al; 2002) and a 60 year-old female patient (Suh et al; 2009).
Prognosis	Limited data; death occurred 8 months after diagnosis in the case with AML of infant (Tchinda et al; 2002); prognosis may be variable (chronic vs acute disease).

Cytogenetics

Cytogenetics Morphological	The translocation presents as + der(1) t(1;19)(p13;p13) in all the 5 known cases.
Additional anomalies	Sole anomaly in 4 of the 5 cases; complex anomalies in an infant patient with AML-M5a.

Genes involved and Proteins

Note

The unbalanced rearrangement described as der(1)t(1;19)(p13;p13.1) has rarely been reported, may be found in sporadic cases of patients with myeloid neoplasms such as AML, MDS and polycythemia vera (PV). The possible role of such unbalanced translocation in disease pathogenesis needs to be determined and the genes implicated in this rearrangement still remain unknown. While no gene rearrangements were detected in this translocation, it is possible that ELL, the gene located on chromosome 19p13.1, may be involved in at least some cases. ELL is the MLL partner gene in t(11;19)(q23;p13.1) translocation resulting in MLL-ELL fusion that is found exclusively in patients with myeloid malignancies. Similar to t(11;19)(q23;p13.1), the unbalanced der(1)t(1;19)(p13;p13.1) may constitute a specific entity in myeloid neoplasms, occurring mainly in adults.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section.

Bibliography

Hand-mirror blasts, AML-M1, and der(1)t(1;19)-(p13;p13.1).

Ma SK, Wan TS, Chan LC, Chiu EK.

Leuk Res 2000;24:95-96.

PMID 10634654

der(1)t(1;19)(p13;p13.1) in two elderly patients with myeloid neoplasms: new case reports and review of the literature.

Suh B, Park TS, Song J, Lee ST, Kim SJ, Lee HW, Choi JR.

Leuk Res 2009 Aug;33(8):e128-31. doi: 10.1016/j.leukres.2009.02.014. Epub 2009 Apr 3.

PMID 19345416

Novel der(1)t(1;19) in two patients with myeloid neoplasias.

Tchinda J, Volpert S, Neumann T, Kennerknecht I, Ritter J, B?chner T, Berdel WE, Horst J

Cancer genetics and cytogenetics. 2002 ; 133 (1) : 61-65.

PMID 11890991

Citation

This paper should be referenced as such :

Zamecnikova A, al Bahar S

t(1;19)(p13;p13.1);

Atlas Genet Cytogenet Oncol Haematol. in press

On line version : http://AtlasGeneticsOncology.org/Anomalies/t0119p13p13ID1230.html

History of this paper:

Huret, JL. t(1;19)(p13;p13.1). Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):212-212.

http://documents.irevues.inist.fr/bitstream/handle/2042/37873/04-2002-t0119p13p13ID1230.pdf

Translocations implicated (Data extracted from papers in the Atlas)

	t(1;19)(p13;p13)

External links

Mitelman database	t(1;19)(p13;p13) [Case List]    t(1;19)(p13;p13) [Transloc-MCList]
arrayMap (UZH-SIB Zurich)	Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]

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