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Gene Rearrangement Analysis (gene + rearrangement_analysis)

Distribution by Scientific Domains
Medical Sciences100%

Selected Abstracts

Assessment of peripheral blood lymphocyte subsets in idiopathic myelofibrosis

EUROPEAN JOURNAL OF HAEMATOLOGY, Issue 2 2000
Francisco Cervantes
Abstract: The objective of this study was to contribute to a better characterization of the immunological profile of idiopathic myelofibrosis (IM) at presentation by analysing the blood lymphocyte subsets and their possible correlations with other disease features. Absolute blood lymphocytes and lymphocyte subsets were assessed in 31 IM patients, compared with those from 34 healthy individuals, and correlated with the patients' main clinical, hematological and bone marrow histologic features. The mean lymphocyte count of the IM patients was 1.1 (SD 0.6)×109/L, versus 1.6 (SD 0.49)×109/L in controls (p=0.0006), with 24 of the 31 patients (77.4%) showing lymphocytopenia (<1.5×109/L). IM patients had significantly lower counts of CD3, CD4, CD8, and CD3,/CD56+ cells, and significantly higher CD3+/CD56+ lymphocyte counts. Although no significant differences were found between patients and controls with regard to CD19+/CD5+ cell counts, increased CD5+ B-cell lymphocytes were observed in three IM patients. In one of the latter patients, Ig gene rearrangement analysis of the heavy chain gene demonstrated such a subpopulation to be clonal, but the patient did not develop features of chronic lymphoid leukemia during a 5-yr follow-up. No correlation was found between the patients' blood lymphocyte counts and other disease features. We conclude that most IM patients have absolute lymphopenia, decreased T cells and increased cytotoxic T cells at diagnosis, and 10% of them show an increased CD5+ B-cell subpopulation. [source]

Improved detection of clonality in cutaneous T-cell lymphomas using laser capture microdissection

JOURNAL OF CUTANEOUS PATHOLOGY, Issue 8 2003
Amir S. Yazdi
Background:, The diagnosis of cutaneous T-cell lymphoma is a challenge for both the pathologist and the clinician. This is particularly true for distinguishing early-stage mycosis fungoides from dermatitis. In this clinical setting, the presence of a clonal T-cell population supports lymphoma. Methods:, Usually, routinely processed paraffin-embedded material is available for gene rearrangement analysis, and polymerase chain reaction (PCR)-based methods to assess clonality can be performed. One drawback of this approach is that sensitivity is suboptimal in biopsy specimens in which the lymphocytic infiltrate represents only a small percentage of all cells present. Another drawback is that DNA extraction from routinely processed, paraffin-embedded tissue is a time-consuming and labor-intensive procedure which can take up to 5 days in our laboratory. To bypass these problems, we used laser capture microdissection (LCM) to obtain lymphocytic infiltrates from tissue sections of formalin-fixed, paraffin-embedded skin biopsy specimens. This approach allows for more specific PCR assessment of the lymphocytic infiltrate and for rapid DNA extraction and PCR analysis. Results:, Using the LCM approach, we could demonstrate clonal T-cell receptor , gene rearrangements in biopsy specimens that did not show clonality using DNA extracted by conventional methods from full tissue sections. In addition, DNA extraction and PCR analysis can be performed in 11 h. Conclusion:, In conclusion, applying LCM to clonality analysis of cutaneous lymphocytic infiltrates is rapid and more sensitive than conventional methods, and we recommend introducing this approach into the routine diagnostic setting. [source]

Granulomatous mycosis fungoides with extensive chest wall involvement

AUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 1 2004
Jamie Von Nida
SUMMARY A 40-year-old woman presented with a 5-year history of a mass overlying her right pectoralis major muscle. Histopathology of the lesion revealed a florid granulomatous infiltrate including an atypical lymphocytic component with marked epidermotropism consistent with granulomatous mycosis fungoides. Staging investigations demonstrated the tumour to be localized to the right chest. Consequently, the patient was treated with radiotherapy (50 Gy) to the lesion with good clinical effect. However, she soon developed a clinically palpable lesion on the left chest outside the radiotherapy field. Positron emission tomography scanning demonstrated an extensive left-sided chest wall tumour and also residual tumour on the right. This left-sided lesion failed to respond to systemic chemotherapy. Further radiotherapy (50 Gy) has recently been administered to the left chest lesion; the response is being monitored. While granulomatous inflammation has been previously described in cutaneous T-cell lymphomas, it is rare and is often associated with a delay in the diagnosis and difficulty with clinical staging. The clinical presentation can be extremely variable and consequently, diagnosis rests with histological features, immunohistochemical studies and gene rearrangement analysis. [source]

Localized perineal cutaneous nodules: a case of recurrent systemic anaplastic large-cell lymphoma

CLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 8 2009
C. Hernandez
Summary We report an unusual case of localized cutaneous nodules heralding the recurrence of systemic CD30+ anaplastic large-cell lymphoma (ALCL). A 47-year-old woman developed numerous violaceous nodules in the perineal and upper thigh area 3 years after multimodal treatment and complete remission of primary anaplastic large-cell CD30+ lymphoma. Using immunohistochemical and T-cell gene rearrangement analysis, a recurrence of her anaplastic large-cell lymphoma was diagnosed. [source]