| 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 |
| Armstrong SA, Staunton JE, Silverman LB, Pieters R, den Boer ML, Minden MD, Sallan SE, Lander ES, Golub TR, Korsmeyer SJ |
| 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 |
| Blood 2003 Aug 1;102(3):1000-6 |
| PMID 12676784 |
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| HOXA cluster deregulation in T-ALL associated with both a TCRD-HOXA and a CALM-AF10 chromosomal translocation |
| Bergeron J, Clappier E, Cauwelier B, Dastugue N, Millien C, Delabesse E, Beldjord K, Speleman F, Soulier J, Macintyre E, Asnafi V |
| Leukemia 2006 Jun;20(6):1184-7 |
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| Clinical and cytogenetic features of 508 Chinese patients with myelodysplastic syndrome and comparison with those in Western countries |
| Chen B, Zhao WL, Jin J, Xue YQ, Cheng X, Chen XT, Cui J, Chen ZM, Cao Q, Yang G, Yao Y, Xia HL, Tong JH, Li JM, Chen J, Xiong SM, Shen ZX, Waxman S, Chen Z, Chen SJ |
| Leukemia 2005 May;19(5):767-75 |
| PMID 15759035 |
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| CALM-AF10+ T-ALL expression profiles are characterized by overexpression of HOXA and BMI1 oncogenes |
| Dik WA, Brahim W, Braun C, Asnafi V, Dastugue N, Bernard OA, van Dongen JJ, Langerak AW, Macintyre EA, Delabesse E |
| Leukemia 2005 Nov;19(11):1948-57 |
| 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 |
| |
| 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 |
| Marculescu R, Le T, Simon P, Jaeger U, Nadel B |
| 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 |
| Milne TA, Briggs SD, Brock HW, Martin ME, Gibbs D, Allis CD, Hess JL |
| Mol Cell 2002 Nov;10(5):1107-17 |
| PMID 12453418 |
| |
| 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 |
| |
| 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 |
| |
| A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias |
| Speleman F, Cauwelier B, Dastugue N, Cools J, Verhasselt B, Poppe B, Van Roy N, Vandesompele J, Graux C, Uyttebroeck A, Boogaerts M, De Moerloose B, Benoit Y, Selleslag D, Billiet J, Robert A, Huguet F, Vandenberghe P, De Paepe A, Marynen P, Hagemeijer A |
| Leukemia 2005 Mar;19(3):358-66 |
| PMID 15674412 |
| |
