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cutaneous T-cell lymphomas

Thursday 5 January 2006

Cutaneous T-cell lymphoma (CTCL) is a clonally derived lymphoproliferative disorder that preferentially involves the skin. The two major clinical expressions of CTCL, mycosis fungoides (MF) and Sézary syndrome (SS), have poorly understood pathogenesis.

Types

- mycosis fungoides (MF)
- Sezary syndrome (SS)
- primary cutaneous CD30+ lymphoproliferative disorders

  • primary cutaneous anaplastic large cell lymphoma
  • lymphomatoid papulosis
  • borderline lesions

- subcutaneous panniculitis-like T-cell lymphoma
- primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
- primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
- cutaneous gamma/delta T-cell lymphoma

Cytogenetics

Chromosomal changes have been identified early in the disease process in cutaneous T-cell lymphoma (CTCL): both losses and gains of chromatin have been found on several chromosomes.

The extent of chromosomal aberrations increases with disease stage and in more aggressive subtypes of the disorder.

Changes in specific genes, such as NAV3, have been characterized in patients with CTCL, and may produce a proliferation advantage for affected cells.

In addition, the expression of some genes can discriminate between controls and patients with CTCL. Therefore, the over- or underexpression of certain genes may be of diagnostic and pathogenic relevance in this disease, and may allow the development of selective treatments.

Chromosome abnormalities, mostly complex karyotypes, are seen in about 50% of patients with MF/SS, and there have only been a few instances of recurrent rearrangements.

SKY/FISH (16382449)

- 47% of abnormal karyotype by SKY/FISH (16382449)

  • chromosome 10
  • chromosome 6 (deletion)
  • chromosome 3
  • chromosome 7
  • chromosome 9
  • chromosome 17
  • chromosome 19
  • chromosome 1
  • chromosome 12
  • chromosome 8
  • chromosome 11
  • chromosome 13 (deletion)

- recurrent breakpoints

- pseudodicentric translocation between the short arms of chromosomes 8
- dic(17;8)(p11.2;p11.2) (16382449)

See also

- Tumors

  • Lymphomas
  • cutaneous tumors

References

- Marty M, Prochazkova M, Laharanne E, Chevret E, Longy M, Jouary T, Vergier B, Beylot-Barry M, Jean Philippe M. Primary Cutaneous T-Cell Lymphomas Do not Show Specific NAV3 Gene Deletion or Translocation.J Invest Dermatol. 2008 May 29. PMID: 18509363

- Sterry W. Cutaneous T-cell lymphoma: molecular and cytogenetic findings. Oncology (Williston Park). 2007 Feb;21(2 Suppl 1):13-7. PMID: 17474354

- Batista DA, Vonderheid EC, Hawkins A, Morsberger L, Long P, Murphy KM, Griffin CA. Multicolor fluorescence in situ hybridization (SKY) in mycosis fungoides and Sezary syndrome: search for recurrent chromosome abnormalities. Genes Chromosomes Cancer. 2006 Apr;45(4):383-91. PMID: 16382449

- Karenko L, Hahtola S, Päivinen S, Karhu R, Syrjä S, Kähkönen M, Nedoszytko B, Kytölä S, Zhou Y, Blazevic V, Pesonen M, Nevala H, Nupponen N, Sihto H, Krebs I, Poustka A, Roszkiewicz J, Saksela K, Peterson P, Visakorpi T, Ranki A. Primary cutaneous T-cell lymphomas show a deletion or translocation affecting NAV3, the human UNC-53 homologue. Cancer Res. 2005 Sep 15;65(18):8101-10. PMID: 16166283