t(1;5)(p32;q31) without TAL1 rearrangement

Abstract

1p32 translocations and submicroscopic interstitial deletions resulting in TAL1 deregulation are known aberrations in T lymphoblastic leukemia/lymphoma. The t(1;5)(p32;q31) is a rare translocation of 1p32 described only in 1 patient with aberrantly expressed TAL1 mRNA and protein (François et al., 1998) and in 2 other patients without involvement of the TAL1 gene.

Keywords

chromosome 1; chromosome 5; 1p deletion; tumor supressor genes; TAL1; t(1;5)(p32;q31).

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Identity

ICD-Topo	C420,C421,C424
ICD-Morpho	9866/3 Acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-RARA
ICD-Morpho	9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho	9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id	1787

Clinics and Pathology

Disease	Acute lymphocytic leukaemia (ALL) and acute promyelocytic leukemia (APL)
Epidemiology	Only 2 ALL cases reported: a 49-years old male with T-cell ALL (Cho et al., 2009) and a 10-years old male diagnosed with B-ALL (Kaleem et al., 2000). In addition, a t(1;5)(p32;q31) was detected as an additional anomaly in a 29-years old female patient diagnosed with acute promyelocyte leukemia (Zamecnikova, unpublished case).
Prognosis	Yet poorly known; the pediatric case with B-precursor phenotype achieved complete remission after induction chemotherapy and remains in complete continuous remission for 24 months (Kaleem et al., 2000). Induction chemotherapy failed to induce remission in the adult patient with T-ALL and 5 months later the patient died due to renal failure and metabolic acidosis (Cho et al., 2009). In the APL case, induction was started with ATRA based therapy resulting in complete remission and she remains in complete remission for 14+ months.

Cytogenetics

Cytogenetics Morphological	May be overlooked in suboptimal preparations.
	Figure 1. Partial karyotypes with t(1;5)(p32;q31).
	Figure 2. (A) Fluorescence in situ hybridization with LSI CSF1R (SpectrumOrange)/D5S23, D5S721 (SpectrumGreen) showing the presence of 5q sequences on der(1) chromosome. (B) Hybridization with Vysis LSI 1p36 (SpectrumOrange) / LSI 1q25 (SpectrumGreen) probes showing translocation of 1p sequences to der(5) chromosome.
Probes	LSI CSF1R (SpectrumOrange/D5S23, D5S721 SpectrumGreen, and Vysis LSI 1p36 (SpectrumOrange) / LSI 1q25 (SpectrumGreen) probes.
Additional anomalies	Secondary anomaly in addition to t(8;14)(q11.2;q32) in a pediatic B-ALL patient (Kaleem et al., 2000), associated with del(6q) in a sideline in the T-ALL case (Cho et al., 2009) and found in association witht(15;17)(q24;q21) in the APL case.

Result of the chromosomal anomaly

Fusion Protein

Oncogenesis

Because of its rarity, the role of t(1;5)(p32;q31) in disease pathogenesis as well as its clinical significance is unclear. Unlike in the T-ALL case described by François et al., 1998, neither TAL1 translocation nor its aberrant expression was detected FISH and by immunohistochemical staining in the other T-ALL patient (Cho et al., 2009). Therefore it is likely that some other genes located at 1p32 such as BLYM, EPS15, CDKN2C, and JUN may be involved in leukemogenesis (Cho et al., 2009). In the remaining 2 cases, t(1;5)(p32;q31) was found in addition to t(8;14)(q11.2;q32) and to t(15;17)(q24;q21) likely representing a secondary event in these cases.

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

A novel translocation t(1;5)(p32;q31) that was not associated with the TAL1 rearrangement in a case of T lymphoblastic leukemia/lymphoma.

Cho HS, Kim MK, Bae YK.

Korean J Lab Med 2009 Jun;29(3):199-203.

PMID 19571616

Deregulated expression of the TAL1 gene by t(1;5)(p32;31) in patient with T-cell acute lymphoblastic leukemia.

François S, Delabesse E, Baranger L, Dautel M, Foussard C, Boasson M, Blanchet O, Bernard O, Macintyre EA, Ifrah N.

Genes Chromosomes Cancer 1998 Sep;23(1):36-43.

PMID 9713995

Acute lymphoblastic leukemia with an unusual t(8;14)(q11.2;q32): a Pediatric Oncology Group study.

Kaleem Z, Shuster JJ, Carroll AJ, Borowitz MJ, Pullen DJ, Camitta BM, Zutter MM, Watson MS.

Leukemia 2000 Feb;14(2):238-40.

PMID 10673739

Citation

This paper should be referenced as such :

Zamecnikova A

t(1;5)(p32;q31) without TAL1 rearrangement;

Atlas Genet Cytogenet Oncol Haematol. in press

On line version : http://AtlasGeneticsOncology.org/Anomalies/t0105p32q31ID1787.html

Translocations implicated (Data extracted from papers in the Atlas)

	t(1;5)(p32;q31)

External links

Mitelman database	t(1;5)(p32;q31) [Case List]    t(1;5)(p32;q31) [Association List] Mitelman database (CGAP - NCBI)
arrayMap	Morph ( 9866/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap	Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap	Morph ( 9837/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease database	t(1;5)(p32;q31) without TAL1 rearrangement

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indexed on : Fri Jun 30 11:22:41 CEST 2017

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