Comparison of karyotyping,<i>TCL1</i>fluorescence in situ hybridisation and TCL1 immunohistochemistry in T cell prolymphocytic leukaemia

Sun, Yi; Tang, Guilin; Hu, Zhihong; Thakral, Beenu; Miranda, Roberto N.; Medeiros, L. Jeffrey; Wang, Sa A.

doi:10.1136/jclinpath-2017-204616

Cited by 13 publications

(6 citation statements)

References 27 publications

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“…[358][359][360] TNFAIP3 mutation has been found in ~6% of NK-LGLL. 360,361 T-cell prolymphocytic leukemia (T-PLL) is characterized by chromosomal inversions or translocations involving TCL1 family genes, best demonstrated by FISH, 362 resulting in constitutive overexpression of TCL1A or MCTP1, and found in virtually all cases. [363][364][365] Complex karyotypic abnormalities, present in >70% of cases, portend a poor prognosis.…”

Section: Extranodal Ptclsmentioning

confidence: 99%

Genomic profiling for clinical decision making in lymphoid neoplasms

Leval

Alizadeh

Bergsagel

et al. 2022

Blood

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With the introduction of large-scale molecular profiling methods and high-throughput sequencing technologies, the genomic features of most lymphoid neoplasms have been characterized at an unprecedented scale. While the principles for the classification and diagnosis of these disorders, founded on a multidimensional definition of disease entities, have been consolidated over the past 25 years, novel genomic data have markedly enhanced our understanding of lymphomagenesis and enriched the description of disease entities at the molecular level. Yet the current diagnosis of lymphoid tumors is largely based on morphological assessment and immunophenotyping, with only few entities being defined by genomic criteria. This paper, which accompanies the International Consensus Classification of mature lymphoid neoplasms, will address how established assays and newly developed technologies for molecular testing already complement clinical diagnoses and provide a novel lens on disease classification. More specifically, their contributions to diagnosis refinement, risk stratification and therapy prediction will be considered for the main categories of lymphoid neoplasms. The potential of whole-genome sequencing, circulating tumor DNA analyses, single-cell analyses and epigenetic profiling will be discussed, as these will likely become important future tools for implementing precision medicine approaches in clinical decision-making for patients with lymphoid malignancies.

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Section: Extranodal Ptclsmentioning

confidence: 99%

Genomic profiling for clinical decision making in lymphoid neoplasms

Leval

Alizadeh

Bergsagel

et al. 2022

Blood

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“…Detection of aberrant TCL1 protein expression via flow cytometry or immunohistochemistry is more sensitive than cytogenetics and also represents a diagnostic hallmark. 3,22,24,25 Few cases are observed in which neither a rearrangement nor an overexpression of TCL1A, TCL1B, or MTCP1 is detected, but which otherwise carry typical clinical, cytomorphological, and molecular criteria of T-PLL (clonal expansion of cells with a prolymphocytic T-cell phenotype). These cases should be collected for a more comprehensive scientific analysis and labeled as TCL1-family negative T-PLL.…”

Section: Geneticsmentioning

confidence: 99%

Consensus criteria for diagnosis, staging, and treatment response assessment of T-cell prolymphocytic leukemia

Staber

Herling

Bellido

et al. 2019

Blood

141

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“…Inv(14)(q11q32) and t(14;14)(q11;q32) causes juxtaposition of TCRα and TCL1 or TCL1B leading to activation ( 37 ). This rearrangement can be identified by FISH (karyotype has a lower sensitivity), and the aberrant TCL1 protein expression can also be detected by flow cytometry or immunohistochemistry ( 38 ). The translocation t(X;14) is present in approximately 10–20% cases and involves the rearrangement of the TCRα locus with the proto-oncogene MTCP1 ( 39 – 41 ).…”

Section: T-prolymphocytic Leukemiamentioning

confidence: 99%

Mature T-Cell leukemias: Challenges in Diagnosis

2022

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T-cell clones can frequently be identified in peripheral blood. It can be difficult to appreciate whether these are benign and transient or whether they signify a clonal disorder. We review factors that aid in understanding the relevance of T-cell clones. Conversely, obvious pathological T-cell clones can be detected in blood, but there is uncertainty in how to categorize this clonal T cell population, thus, we adopt a multidisciplinary review of the clinical features, diagnostic material and radiology before making the diagnosis. In this review we shall discuss some of these challenges faced when diagnosing mature T-cell leukemias.

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Comparison of karyotyping,TCL1fluorescence in situ hybridisation and TCL1 immunohistochemistry in T cell prolymphocytic leukaemia

Cited by 13 publications

References 27 publications

Genomic profiling for clinical decision making in lymphoid neoplasms

Genomic profiling for clinical decision making in lymphoid neoplasms

Consensus criteria for diagnosis, staging, and treatment response assessment of T-cell prolymphocytic leukemia

Mature T-Cell leukemias: Challenges in Diagnosis

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