The usefulness of clonality for the detection of cases clinically and/or histopathologically not recognized as cutaneous T-cell lymphoma

• Published in: British journal of dermatology (1951) Vol. 153; no. 2; pp. 368 - 371
• Main Authors: Alessi, E., Coggi, A., Venegoni, L., Merlo, V., Gianotti, R.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01.08.2005; Blackwell; Oxford University Press
• Subjects: Biological and medical sciences; cutaneous T-cell lymphoma; Dermatology; Diagnosis, Differential; Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor - genetics; Hematologic and hematopoietic diseases; Heteroduplex Analysis - methods; Humans; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Medical sciences; mycosis fungoides; Mycosis Fungoides - diagnosis; Mycosis Fungoides - genetics; Mycosis Fungoides - pathology; Neoplasm Staging; Polymerase Chain Reaction - methods; polymerase chain reaction-heteroduplex analysis; Sensitivity and Specificity; Skin Neoplasms - diagnosis; Skin Neoplasms - genetics; Skin Neoplasms - pathology; T-cell receptor gamma chain gene rearrangements; Human; Clonality; Skin disease; polymerase chain reaction-heteroduplex analysis. T-cell receptor gamma thain gene rearrangements; T cell receptor; Dermatology; cutaneous T-cell lymphoma; Mycosis fungoides; Malignant hemopathy; Non Hodgkin lymphoma; Peripheral T cell lymphoma; Heteroduplex; Polymerase chain reaction; Cutaneous hematologic disease; Lymphoproliferative syndrome; T-Lymphocyte; Gene rearrangement; Diagnosis; Molecular biology; Detection
• ISSN: 0007-0963; 1365-2133
• DOI: 10.1111/j.1365-2133.2005.06760.x

Summary Background  The determination of clonality has proven to be a useful adjunct to the diagnosis of cutaneous lymphocytic infiltrates. It is considered particularly helpful for the distinction of mycosis fungoides (MF) and inflammatory dermatoses. Objectives  To verify the sensitivity of the polymerase chain reaction (PCR)–heteroduplex analysis of T‐cell receptor γ‐chain gene (TCRγ) rearrangements in patients with MF and to establish whether a clinicopathological re‐evaluation of lesions previously unclassified or considered to be non‐neoplastic entities but found to be monoclonal allowed the recognition of additional cases of MF. Methods  Included in the study were 116 patients, seen at our Institute from April 2002 to September 2003 and tested for TCRγ rearrangements. Thirty‐six patients were affected by clinically and histopathologically proven MF, while the remaining 80 cases had not been classified or had been classified as non‐neoplastic entities. The sensitivity of the molecular analysis was determined on the basis of the results obtained in the 36 patients with MF. The 29 cases of the second series of patients found to be monoclonal were clinically and histopathologically re‐evaluated. Results  Clonal rearrangements were found in 87·5% of patients with plaque stage MF and in 20% of those with patch stage MF. The clinicopathological re‐evaluation allowed us to reclassify 15 of 29 monoclonal cases of the second series of patients as MF. Conclusions  The study showed that the PCR–heteroduplex technique can determine a high percentage of monoclonality only in plaque stage MF. However, in spite of the low sensitivity of the method, several cases previously unrecognized could be reclassified as MF when their clinical and histopathological features were re‐evaluated taking into account the clonality of the lymphocytic infiltrate.