Su Young Jeon

CD20 Positive T Cell Lymphoma Involvement of Skin.

CD20 positive T cell lymphoma is a rare condition that is associated with the coexpressions of CD20 and T cell markers, such as, CD3, CD5, or UCHL-1. Positivity for CD20 in this tumor represents an aberrant immunophenotype, but the presence of monoclonal T cell receptor (TCR) gene rearrangements and negativity for immunoglobulin heavy chain gene rearrangement indicate that this tumor is a T cell lymphoma. The majority of cases of CD20 positive T cell lymphoma have been reported as immature peripheral T cell lymphoma not otherwise specified. However, we believe that this disease is likely to be re-listed as a new disease entity after its pathogenesis has been elucidated and more cases have been evaluated. Here, we present a case of peripheral T cell lymphoma coexpressing CD20 and T cell markers with a demonstrable TCR gene rearrangement, in a patient who had been misdiagnosed as having B cell type lymphoma 4 years previously. We hypothesize that in this case initially circulating normal CD20+ T cell subsets underwent neoplastic transformation and CD20 positive T cell lymphoma subsequently developed in the lymph node, and then recurred in the skin due to systemic disease or metastasized from the nodal disease.

Frequency of BRAF Mutation and Clinical Relevance for Primary Melanomas

Background This study was conducted to clarify the frequency of the BRAF mutation in primary melanomas and its correlation with clinicopathologic parameters. Methods We analyzed the frequency of BRAF mutation in patients with primary cutaneous melanoma (n=58) or non-cutaneous one (n=27) by performing dual priming oligonucleotide-based multiplex real-time polymerase chain reaction to isolate and to purify the DNA from the formalin-fixed and paraffin-embedded tumors. Results The BRAF mutation was found in 17.2% (10/58) of patients with primary cutaneous melanoma and 11.1% (3/27) of those with non-cutaneous melanoma. The frequency of BRAF mutation was not correlated with any clinicopathologic parameters with the exception of the patient age. The frequency of the BRAF mutation was significantly higher in patients younger than 60 years as compared with those older than 60 years (p=0.005). Conclusions Compared with previous reports, our results showed that the frequency of the BRAF mutation was relatively lower in patients with primary cutaneous melanoma. Besides, our results also showed that the frequency of the BRAF mutation had an inverse correlation with the age. Further studies are warranted to exclude methodological bias, to elucidate the difference in the frequency of the BRAF mutation from the previous reports from a Caucasian population and to provide an improved understanding of the molecular pathogenesis of malignant melanoma.

Spectrophotometric Measurement of Minimal Erythema Dose Sites after Narrowband Ultraviolet B Phototesting: Clinical Implication of Spetrophotometric Values in Phototherapy

Background The spectrophotometer is well known to be a useful tool for estimating the objective minimal erythema dose (MED) during planning of phototherapy protocol. However, only a few spectrophotometric values are used to evaluate the erythema and pigmentation of the MED site during phototesting. Objective To determinea new meaning of the relationships among spectrophotometric values during phototesting. Methods Twenty-five patients with psoriasis and 23 patients with vitiligo were selected before undergoing narrowband ultraviolet B phototherapy. We interpreted the gross findings of erythema and measured the L*a*b* values using a spectrophotometer at each phototest spot. We compared MEDs, basic spectrophotometric values (L*a*b*), and b*/L* values separately according to skin type, and determined the correlation of each spectrophotometric value and the correlation between a* and b*/L* values. Results Among L*a*b* values, only b* values showed a statistically significant difference between the type III and IV groups (p=0.003). There was a positive correlation only between MEDs and b* values (p<0.05). The average b*/L*value in the type IV group was significantly higher than the type III group (p<0.05). Conclusion The higher b* values in type IV skin indicates that skin tanning develops more prominently than type III. The correlation between MEDs and b* values may signify that the skin pigmentation status is deepened with the higher MEDs. The difference in b*/L*values between type III and IV skin reflects that the b*/L*value is thought to be an index of tanning. The a* value, known as an index of erythema, does not influence the degree of tanning.

A Case of Fabry's Disease with Congenital Agammaglobulinemia

Fabrys disease is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive multiple organ dysfunctions caused by the deposition of Gb3. On the other hand, congenital agammaglobulinemia is usually caused by mutations in Brutons tyrosine kinase (Btk) gene with X-linked dominence, suppresses B cell maturation, and causes recurrent pyogenic infections. In former reports, the distance between the loci in the Xq22 region of the human X chromosome was found to be about 69 kilobases. A 23-yr-old man diagnosed with congenital agammaglobulinemia at age 5, showed typical clinical and laboratory and histopathological findings of Fabrys disease. The genetic basis of this combination of the two syndromes was studied in this patient. Here, we report a case of Fabrys disease with congenital agammaglobulinemia.