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Published on: January 28, 2014
T-Cell Prolymphocytic Leukemia With t(X;14)(q28;q11.2): A Clinicopathologic Study of 15 Cases
Zhihong Hu1, L Jeffrey Medeiros2, Mina Xu3
1Department of Laboratory Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Objectives:
T-cell prolymphocytic leukemia (T-PLL) is a rare mature T-cell leukemia usually characterized by inv(14)(q11.2q32)/t(14;14)(q11.2;q32). In this study, we aimed to investigate the clinicopathologic features and molecular profile of T-PLL associated with t(X;14)(q28;q11.2).
Methods:
The study group included 10 women and 5 men with a median age of 64 years. All 15 patients had a diagnosis of T-PLL with t(X;14)(q28;q11.2).
Results:
All 15 patients had lymphocytosis at initial diagnosis. Morphologically, the leukemic cells had features of prolymphocytes in 11 patients, small cell variant in 3, and cerebriform variant in 1. All 15 patients had hypercellular bone marrow with an interstitial infiltrate in 12 (80%) cases. By flow cytometry, the leukemic cells were surface CD3+/CD5+/CD7+/CD26+/CD52+/TCR α/β+ in 15 (100%) cases, CD2+ in 14 (93%) cases, CD4+/CD8+ in 8 (53%) cases, CD4+/CD8- in 6 (40%) cases, and CD4-/CD8 + in 1 (7%) case. At the cytogenetic level, complex karyotypes with t(X;14)(q28;q11.2) were seen in all 15 patients assessed. Mutational analysis showed mutations of JAK3 in 5 of 6 and STAT5B p.N642H in 2 of 6 patients. Patients received variable treatments, including 12 with alemtuzumab. After a median follow-up of 17.2 months, 8 of 15 (53%) patients died.
Conclusions:
T-PLL with t(X;14)(q28;q11.2) frequently shows a complex karyotype and mutations involving JAK/STAT pathway, and it is an aggressive disease with a poor outcome.
Insights
T-cell prolymphocytic leukemia (T-PLL) with a specific translocation, t(X;14)(q28;q11.2), presents aggressive features and poor outcomes. This rare leukemia often involves JAK/STAT pathway mutations and complex karyotypes.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- T-cell prolymphocytic leukemia (T-PLL) is a rare, aggressive mature T-cell leukemia.
- Commonly associated with inv(14)(q11.2q32)/t(14;14)(q11.2;q32) chromosomal abnormalities.
- The specific translocation t(X;14)(q28;q11.2) in T-PLL requires further investigation.
Purpose of the Study:
- To investigate the clinicopathologic features of T-PLL associated with t(X;14)(q28;q11.2).
- To determine the molecular profile of T-PLL with this specific translocation.
- To understand the clinical outcomes of patients with T-PLL and t(X;14)(q28;q11.2).
Main Methods:
- Retrospective analysis of 15 patients diagnosed with T-PLL and t(X;14)(q28;q11.2).
- Morphological assessment, flow cytometry, cytogenetic analysis, and mutational analysis (JAK3, STAT5B).
- Evaluation of treatment regimens and patient outcomes following a median follow-up of 17.2 months.
Main Results:
- The study included 15 patients (10 women, 5 men) with a median age of 64.
- Morphological variants included prolymphocytes (11), small cell (3), and cerebriform (1).
- Flow cytometry revealed characteristic T-cell markers; cytogenetics showed complex karyotypes with t(X;14)(q28;q11.2). JAK3 mutations (5/6) and STAT5B p.N642H (2/6) were identified. 53% of patients died within the follow-up period.
Conclusions:
- T-PLL with t(X;14)(q28;q11.2) is characterized by complex karyotypes and JAK/STAT pathway mutations.
- This specific subtype of T-PLL represents an aggressive disease with a poor prognosis.
- Targeted therapies may be beneficial for patients with JAK/STAT pathway mutations in T-PLL.
