Ann Lab Med.  2020 Jan;40(1):76-79. 10.3343/alm.2020.40.1.76.

First Case of Double T-Cell Receptor Alpha/Delta Rearrangements of t(11;14) and inv(14) and Subsequent JAK2 Rearrangement in a Patient With T-cell Acute Lymphoblastic Leukemia

Affiliations
  • 1Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ejseo@amc.seoul.kr
  • 2Department of Internal Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.

Abstract

No abstract available.


MeSH Terms

Humans
Precursor Cell Lymphoblastic Leukemia-Lymphoma*
Receptors, Antigen, T-Cell*
T-Lymphocytes*
Receptors, Antigen, T-Cell

Figure

  • Fig. 1 BM examination, karyotyping, and FISH analysis at diagnosis. (A) Lymphoblasts on the BM aspirate smear (Wright-Giemsa, ×1,000). (B) BM karyogram. (C, D) Metaphase and interphase FISH analyses with TRA/D Dual Color Break Apart Rearrangement Probe for 14q11.2 (5′TRA/D: SpectrumRed, 3′TRA/D: SpectrumGreen). Abbreviations: BM, Bone marrow; FISH, fluorescence in situ hybridization; inv, inversion; der, derivative chromosome; TRA/D, T-cell receptor alpha/delta.

  • Fig. 2 BM examination, karyotyping, and FISH analysis at follow-up. (A) Eosinophils (Wright-Giemsa, ×1,000) and (B) focal fibrosis (HE, ×400). (C) BM karyogram. (D) Metaphase and interphase FISH analyses with JAK2 Break Apart FISH Probe for 9p24.1 (5′JAK2: Red, 3′JAK2: Green). (E) Interphase FISH analysis with RP11-162F6 (LMO2) for 11p13 (Aqua) and TRA/D Dual Color Break Apart Rearrangement Probe for 14q11.2 (5′TRA/D: SpectrumRed, 3′TRA/D: SpectrumGreen). Abbreviations: BM, Bone marrow; HE, hematoxylin and eosin; FISH, fluorescence in situ hybridization; der, derivative chromosome; TRA/D, T-cell receptor alpha/delta.


Reference

1. Belver L, Ferrando A. The genetics and mechanisms of T cell acute lymphoblastic leukaemia. Nat Rev Cancer. 2016; 16:494–507.
Article
2. Chen B, Jiang L, Zhong ML, Li JF, Li BS, Peng LJ, et al. Identification of fusion genes and characterization of transcriptome features in T-cell acute lymphoblastic leukemia. Proc Natl Acad Sci U S A. 2018; 115:373–378.
Article
3. Reiter A, Walz C, Watmore A, Schoch C, Blau I, Schlegelberger B, et al. The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2. Cancer Res. 2005; 65:2662–2667.
4. Murati A, Gelsi-Boyer V, Adélaïde J, Perot C, Talmant P, Giraudier S, et al. PCM1-JAK2 fusion in myeloproliferative disorders and acute erythroid leukemia with t(8;9) translocation. Leukemia. 2005; 19:1692–1696.
5. Liu Y, Easton J, Shao Y, Maciaszek J, Wang Z, Wilkinson MR, et al. The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia. Nat Genet. 2017; 49:1211–1218.
Article
6. Wilkinson A, Walker DA, Smith NM, Calvert A, Monk AJ, Parkin CA. Inversion (14)(q11q32) in a patient with childhood T-cell acute lymphoblastic leukemia. Cancer Genet Cytogenet. 1996; 88:76–79.
Article
7. Przybylski GK, Dik WA, Wanzeck J, Grabarczyk P, Majunke S, Martin-Subero JI, et al. Disruption of the BCL11B gene through inv(14)(q11.2q32.31) results in the expression of BCL11B-TRDC fusion transcripts and is associated with the absence of wild-type BCL11B transcripts in T-ALL. Leukemia. 2005; 19:201–208.
Article
8. Swerdlow SH, Campo E, editors. WHO classification of tumours of haematopoietic and lymphoid tissues. Revised 4th ed. Lyon: International Agency for Research on Cancer;2017. p. 78–79.
9. Tang G, Sydney Sir, Weinberg O, Tam W, Sadigh S, Lake JI, et al. Hematopoietic neoplasms with 9p24/JAK2 rearrangement: a multicenter study. Mod Pathol. 2019; 32:490–498.
Article
10. Girardi T, Vicente C, Cools J, De Keersmaecker K. The genetics and molecular biology of T-ALL. Blood. 2017; 129:1113–1123.
Article
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