Disease |
T-cell Acute lymphoblastic leukemia (T-ALL) |
Phenotype / cell stem origin |
T lineage TCR gamma delta +, CD4/8 double positive (DP), CD1a- ; FAB L1 or L2. immunophenotype |
Epidemiology | 2 patients diagnosed with T-cell acute lymphoblastic leukemia: a 29-years old male (Asnafi et al., 2003) and a 9- years old male (Mahlow et al., 2015). In addition, 3 more cases with t(7;14)(p15;q11) have been described: a 51-years old male with mycosis fungoides/Sezary syndromeand TRA+ rearrangement (Santos et al., 1990), a 31-year old female with T-ALL (Garipidou et al., 1991) and a 46-years old female with refractory anemia with excess of blasts and rearranged HOXA9 (Chen et al., 2005) (Table 1). Table 1. Reported cases with t(7;14)(p15;q11) | Sex/Age | Diagnosis | Karyotype | Genes involved | 4 | F/46 | RAEB | 46,XX,t(7;14)(p15;q11),+8 | HOXA9/? | 2 | F/31 | T-ALL | 46,XX,t(7;14)(p15;q11),add(18)(q23) | ? | 3 | M/29 | T-ALL | 46,XY,t(7;14)(p15;q11),t(10;11)(p14;q21),add(18)(q23) | HOXA-TRA/D CALM-AF10 | 5 | 9/M | T-ALL | 46,XY,del(6)(q14q21),t(7;14)(p15;q11.2),del(9)(p13)/92,idemx2 | HOXA-TRA/D | 1 | M/51 | Mycosis fungoides/ Sezary syndrome | 41-45,X,-Y,add(5)(q33),+7,t(7;14)(p15;q11),-8,-10,del(10)(p13), del(11)(q21q23),del(12)(p13),add(14)(q11),add(15)(q15),inc | TRA+, TRG+ | ) 1. Santos et al., 1990; 2. Garipidou et al., 1991; 3.Asnafi et al., 2003; 4. Chen et al., 2005; 5. Mahlow et al., 2015.Abbreviations: M: male; F: female; T-ALL: T-cell acute lymphoblastic leukemia, RAEB: refractory anemia with excess of blasts. |
MLL translocations specify a distinct gene expression profile that distinguishes a unique leukemia |
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Nat Genet 2002 Jan;30(1):41-7 |
PMID 11731795 |
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Age-related phenotypic and oncogenic differences in T-cell acute lymphoblastic leukemias may reflect thymic atrophy |
Asnafi V, Beldjord K, Libura M, Villarese P, Millien C, Ballerini P, Kuhlein E, Lafage-Pochitaloff M, Delabesse E, Bernard O, Macintyre E |
Blood 2004 Dec 15;104(13):4173-80 |
PMID 15054041 |
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CALM-AF10 is a common fusion transcript in T-ALL and is specific to the TCRgammadelta lineage |
Asnafi V, Radford-Weiss I, Dastugue N, Bayle C, Leboeuf D, Charrin C, Garand R, Lafage-Pochitaloff M, Delabesse E, Buzyn A, Troussard X, Macintyre E |
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HOXA cluster deregulation in T-ALL associated with both a TCRD-HOXA and a CALM-AF10 chromosomal translocation |
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CALM-AF10+ T-ALL expression profiles are characterized by overexpression of HOXA and BMI1 oncogenes |
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PMID 16107895 |
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The use of fluorodeoxyuridine synchronization for cytogenetic investigation of acute lymphoblastic leukemia |
Garipidou V, Secker-Walker LM |
Cancer Genet Cytogenet 1991 Mar;52(1):107-11 |
PMID 1826229 |
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T-cell acute lymphoblastic leukemia with t(7;14)(p15;q11.2)/HOXA-TCRA/D and biallelic deletion of CDKN2A. Case report and literature review. |
Mahlow J, Ebrahim S, Mohamed AN. |
http://atlasgeneticsoncology.org/Reports/t0714p15q11MahlowID100075.html |
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V(D)J-mediated translocations in lymphoid neoplasms: a functional assessment of genomic instability by cryptic sites |
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J Exp Med 2002 Jan 7;195(1):85-98 |
PMID 11781368 |
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MLL targets SET domain methyltransferase activity to Hox gene promoters |
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Mol Cell 2002 Nov;10(5):1107-17 |
PMID 12453418 |
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Possible correlation between a specific alteration t(7;14) and the rearrangement of TCR observed in a Sézary's syndrome |
Santos M, Benitez J, Rivas C |
Cancer Genet Cytogenet 1990 Jun;46(2):281-3 |
PMID 2340497 |
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HOXA genes are included in genetic and biologic networks defining human acute T-cell leukemia (T-ALL) |
Soulier J, Clappier E, Cayuela JM, Regnault A, García-Peydró M, Dombret H, Baruchel A, Toribio ML, Sigaux F |
Blood 2005 Jul 1;106(1):274-86 |
PMID 15774621 |
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A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias |
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PMID 15674412 |
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