Official reprint from UpToDate®
www.uptodate.com ©2017 UpToDate, Inc. and/or its affiliates. All Rights Reserved.

Clinical manifestations, pathologic features, and diagnosis of T cell prolymphocytic leukemia

Arnold S Freedman, MD
Jon C Aster, MD
Claire Dearden, MD, BSc, FRCP, FRCPath
Section Editor
Andrew Lister, MD, FRCP, FRCPath, FRCR
Deputy Editor
Rebecca F Connor, MD


T cell prolymphocytic leukemia (T-PLL) is a rare T cell neoplasm composed of lymphoid cells, typically with involvement of the peripheral blood, bone marrow, lymph nodes, and spleen. The name "prolymphocyte" is actually a misnomer, as the tumor cells in this disease are of post-thymic T cell origin. This class of neoplasms includes many cases previously classified as T cell chronic lymphocytic leukemia, a category no longer included in the current World Health Organization (WHO) classification.

The epidemiology, clinical presentation, pathology, and diagnosis of T-PLL are discussed here. The treatment of T-PLL is presented separately. (See "Treatment of T cell prolymphocytic leukemia".)


T-PLL is an extremely rare disease, comprising approximately 2 percent of mature lymphocytic leukemias in adults [1]. Sporadic T-PLL mainly affects the elderly with a mean age at presentation of 65 years [2]. It has not been reported in children or young adults. There is a slight male predominance with a male:female ratio of 1.33 [3].

Patients with ataxia telangiectasia have a greatly increased incidence of T-PLL with a different epidemiologic profile [4]. In contrast to patients with sporadic T-PLL, the median age of onset of T-PLL in patients with ataxia telangiectasia is about 30 years of age, and some cases appear in adolescence [5]. (See "Ataxia-telangiectasia".)


Most patients with T-PLL present with an elevated white blood count (typically >100,000/microL), hepatosplenomegaly (75 percent), and generalized lymphadenopathy (50 percent); anemia (36 percent) and thrombocytopenia (51 percent) can be seen, but are less common than in B cell prolymphocytic leukemia [3]. In addition, skin infiltration and serous effusions (ie, pleural) occur in approximately 25 and 15 percent of patients, respectively [6]. Involvement of the central nervous system is rare. Infrequently, asymptomatic patients are diagnosed as part of the evaluation of abnormal laboratory studies.

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:

Subscribers log in here

Literature review current through: Nov 2017. | This topic last updated: Apr 19, 2017.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2017 UpToDate, Inc.
  1. Swerdlow SH, Campo E, Harris NL, et al. (Eds). World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, IARC Press, Lyon 2008.
  2. Melo JV, Catovsky D, Galton DA. The relationship between chronic lymphocytic leukaemia and prolymphocytic leukaemia. I. Clinical and laboratory features of 300 patients and characterization of an intermediate group. Br J Haematol 1986; 63:377.
  3. Matutes E, Brito-Babapulle V, Swansbury J, et al. Clinical and laboratory features of 78 cases of T-prolymphocytic leukemia. Blood 1991; 78:3269.
  4. Brito-Babapulle V, Catovsky D. Inversions and tandem translocations involving chromosome 14q11 and 14q32 in T-prolymphocytic leukemia and T-cell leukemias in patients with ataxia telangiectasia. Cancer Genet Cytogenet 1991; 55:1.
  5. Taylor AM, Metcalfe JA, Thick J, Mak YF. Leukemia and lymphoma in ataxia telangiectasia. Blood 1996; 87:423.
  6. Ravandi F, O'Brien S. Chronic lymphoid leukemias other than chronic lymphocytic leukemia: diagnosis and treatment. Mayo Clin Proc 2005; 80:1660.
  7. Magro CM, Morrison CD, Heerema N, et al. T-cell prolymphocytic leukemia: an aggressive T cell malignancy with frequent cutaneous tropism. J Am Acad Dermatol 2006; 55:467.
  8. Herling M, Valbuena JR, Jones D, Medeiros LJ. Skin involvement in T-cell prolymphocytic leukemia. J Am Acad Dermatol 2007; 57:533.
  9. Maljaei SH, Brito-Babapulle V, Hiorns LR, Catovsky D. Abnormalities of chromosomes 8, 11, 14, and X in T-prolymphocytic leukemia studied by fluorescence in situ hybridization. Cancer Genet Cytogenet 1998; 103:110.
  10. Pekarsky Y, Hallas C, Isobe M, et al. Abnormalities at 14q32.1 in T cell malignancies involve two oncogenes. Proc Natl Acad Sci U S A 1999; 96:2949.
  11. Stern MH, Soulier J, Rosenzwajg M, et al. MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha/delta locus in mature T cell proliferations. Oncogene 1993; 8:2475.
  12. Hu Z, Medeiros LJ, Fang L, et al. Prognostic significance of cytogenetic abnormalities in T-cell prolymphocytic leukemia. Am J Hematol 2017; 92:441.
  13. Hetet G, Dastot H, Baens M, et al. Recurrent molecular deletion of the 12p13 region, centromeric to ETV6/TEL, in T-cell prolymphocytic leukemia. Hematol J 2000; 1:42.
  14. Brito-Babapulle V, Hamoudi R, Matutes E, et al. p53 allele deletion and protein accumulation occurs in the absence of p53 gene mutation in T-prolymphocytic leukaemia and Sezary syndrome. Br J Haematol 2000; 110:180.
  15. Costa D, Queralt R, Aymerich M, et al. High levels of chromosomal imbalances in typical and small-cell variants of T-cell prolymphocytic leukemia. Cancer Genet Cytogenet 2003; 147:36.
  16. Stilgenbauer S, Schaffner C, Litterst A, et al. Biallelic mutations in the ATM gene in T-prolymphocytic leukemia. Nat Med 1997; 3:1155.
  17. Vorechovský I, Luo L, Dyer MJ, et al. Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia. Nat Genet 1997; 17:96.
  18. Bergmann AK, Schneppenheim S, Seifert M, et al. Recurrent mutation of JAK3 in T-cell prolymphocytic leukemia. Genes Chromosomes Cancer 2014; 53:309.
  19. Kiel MJ, Velusamy T, Rolland D, et al. Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia. Blood 2014; 124:1460.
  20. Bellanger D, Jacquemin V, Chopin M, et al. Recurrent JAK1 and JAK3 somatic mutations in T-cell prolymphocytic leukemia. Leukemia 2014; 28:417.
  21. López C, Bergmann AK, Paul U, et al. Genes encoding members of the JAK-STAT pathway or epigenetic regulators are recurrently mutated in T-cell prolymphocytic leukaemia. Br J Haematol 2016; 173:265.
  22. Garand R, Goasguen J, Brizard A, et al. Indolent course as a relatively frequent presentation in T-prolymphocytic leukaemia. Groupe Français d'Hématologie Cellulaire. Br J Haematol 1998; 103:488.
  23. Herling M, Patel KA, Teitell MA, et al. High TCL1 expression and intact T-cell receptor signaling define a hyperproliferative subset of T-cell prolymphocytic leukemia. Blood 2008; 111:328.