- Diagnostic Utility of the JAZF1/JJAZ1 Gene Fusion in Endometrial Stromal Sarcomas and Their Histologic Variants.
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Sang Ryung Lee, Joon Seon Song, Ga Hye Kim, Jene Choi, Hyung Kyoung Kim, Yonghee Lee, Kyu Rae Kim
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Korean J Pathol. 2011;45(5):498-505.
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DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.5.498
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 Abstract
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- BACKGROUND
The diagnosis of endometrial stromal sarcoma (ESS) is often difficult in cases showing diverse histological differentiation or in undifferentiated endometrial sarcoma (UES). Recently, JAZF1/JJAZ1 gene fusion has been described as a defining feature of low-grade ESS (LGESS). However, its prevalence is variably reported, and the diagnostic utility has rarely been examined for cases showing various histological differentiation.
METHODS
To test the diagnostic utility of JAZF1/JJAZ1 gene fusion in difficult cases, we compared the prevalence of the JAZF1/JJAZ1 fusion gene in LGESS with and without histological differentiation.
RESULTS
The JAZF1/JJAZ1 fusion transcript was detected in 18 of 21 LGESS (85.7%), including 14 classical LGESS (93%), four LGESS with diverse histological differentiation (67%), and two with UES (28.6%). Positive cases included two LGESS with sex cord-like differentiation, one with osseous differentiation, and two UES. LGESS showing smooth muscle differentiation revealed the fusion transcript only in the classic area. Direct sequencing analysis of two LGESS revealed a previously reported breakpoint at t(7;17)(p15;q21).
CONCLUSIONS
The JAZF1/JJAZ1 fusion gene was identified in a significant proportion of LGESS showing secondary histological differentiation except in cases with smooth muscle differentiation. Thus, this fusion gene may be useful to confirm the diagnosis in difficult cases of LGESS.
- Microsatellite Instability in Endometrial Adenocarcinomas of Young Women.
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Hyang Im Lee, Ga Won Choi, Jene Choi, Kyu Rae Kim
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Korean J Pathol. 2008;42(4):202-207.
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Abstract
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- BACKGROUND
The correlation between microsatellite instability (MSI) and the prognosis of patients with endometrial carcinomas is controversial. The endometrial carcinomas in the young adult group usually have an excellent prognosis, and these tumors might have a different frequency of MSI compared with those in old women. Further, the pathogenetic mechanisms of the two groups might be different. We investigated the frequency of MSI in the endometrial cancers of patients who were under the age of 40 and we correlated the frequency with other prognostic factors.
METHODS
MSI analyses were performed using 5 primers (BAT25, BAT26, D2S123, D5S346 and D17S250) and with using the genomic DNA obtained from the paraffin embedded tumor and the paired normal tissues.
RESULTS
All 23 cases we examined exhibited endometrioid adenocarcinomas, and most of them were of the low international federation of gynecologists and obstetricians (FIGO) stage (stage I: 22, IIB: 1); 78% were microsatellite stable and 22% were MSI-low; an abnormal peak was present at only one marker, and any case of MSI-high was not identified. The FIGO stages of the 5 MSI-low cases were variable.
CONCLUSIONS
The frequency of MSI in the endometrial cancers of young patients is not significantly different from the frequencies reported for all age groups in the previous studies, MSI-low does not seem to be related to the other poor prognostic parameters, although the number of cases we studied is insufficient to draw any firm conclusion.
- Clinicopathologic Analysis of Epidermal Growth Factor Receptor Status in Non-small Cell Lung Cancer: Protein Expression, Gene Amplification and Survival Analysis.
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Seungkoo Lee, Jene Choi, Se Jin Jang
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Korean J Pathol. 2007;41(6):387-392.
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Abstract
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- BACKGROUND
Abnormal over-expression or gene amplification of epidermal growth factor receptor (EGFR) is important in the prognosis of non-small cell lung cancer (NSCLC). We investigated the frequency of EGFR protein expression and gene amplification, and the correlation between EGFR status and survival in NSCLC.
METHODS
We examined 360 cases of microarrayed NSCLC tissues for the EGFR protein expression and EGFR gene amplification using immunohistochemistry and fluorescent in situ hybridization.
RESULTS
EGFR protein expression and EGFR gene amplification occurred in 110 cases (30.6%) and 24 cases (6.7%), respectively. EGFR protein expression and gene amplification were more frequent in squamous cell carcinoma than in adenocarcinoma. Differences in EGFR protein expression did not dramatically affect survival curves (p=0.740), but differences in gene amplification did (p<0.05): EGFR gene amplification was associated with a lower 5-year survival rate.
CONCLUSION
EGFR protein expression and gene amplification showed moderate correlation with each other. EGFR gene amplification predicted a poor prognosis, whereas EGFR protein expression did not.
- Methylation Patterns of Small Nuclear Ribonucleoprotein Polypeptide N (SNRPN) Related to the Germ Cell Differentiation of Human Germ Cell Tumors.
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Sun Young Jun, Kyu Rae Kim, Jene Choi, Jae Y Ro
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Korean J Pathol. 2007;41(1):21-29.
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Abstract
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- BACKGROUND
The histogenesis and interrelationship of the various types of germ cell tumors (GCTs) have been proposed.
Dysgerminoma/seminoma (D/S) is a primitive GCT that has not acquired the potential for further differentiation, whereas other types of GCTs are in a dynamic process of differentiation towards a somatic or extraembryonal direction. A primordial germ cell giving rise to a GCT undergoes a developmentally regulated erasure and resetting of imprinted genes, but changes in the imprinting pattern in GCTs as the tumor differentiates have not been well defined.
We aimed to investigate the changes of the SNRPN methylation pattern between the germinomas and non-germinomatous GCTs, as compared with the somatic methylation pattern.
METHODS
We used formalin-fixed paraffin-embedded tissue sections of 97 GCTs (18 Ds, 21 Ss, 17 yolk sac tumors (YSTs), 19 immature teratomas, and 22 mature teratomas). DNA methylation was evaluated after bisulfite modification, PCR amplification, and restriction enzyme digestion.
RESULTS
The SNRPN methylation pattern was changed in 53/74 (71.6%) of GCTs as non-somatic patterns. There were significant differences in the methylation pattern between the germinomas and non-germinomatous GCTs, the GCTs being frequently hypo- methylated in Ds/Ss (73.3%), in contrast to the frequent hypermethylation seen in the YSTs and teratomas (47.7%, p<0.05).
CONCLUSIONS
The methylation status of an imprinting gene may be involved in the mechanism causing cellular differentiation and tumorigenesis of GCTs.
- Intraneural Perineurioma in the Tongue: A Case Report.
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Jun Kang, Shin Kwang Khang, Jene Choi, Jeong Won Kim, Eul Ju Seo, Bu kyu Lee, Eunsil Yu
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Korean J Pathol. 2007;41(1):51-54.
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Abstract
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- We report a case of an intraneural perineurioma that developed in an unusual location, the tongue. A 16-year-old male presented with a 1 cm sized protruding submucosal mass in his tongue without any sensory or motor signs or symptoms. The mass was excised. The mucosa was intact, with an ill-defined firm mass measuring 1.0 x 0.8 x 0.6 cm in the submucosa and muscle. The cut surface of the mass was pinkish gray and fibrotic. Microscopically, the mass contained tortuous and thickened peripheral nerve bundles in the submucosa, showing onion bulb like structures. The onion bulb like structures consisted of centrally located S-100 protein positive Schwann cells surrounded by Glut-1 positive perineurial cells. The FISH study did not reveal any genetic aberrations in chromosome 22.
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