- 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.
- Fine Needle Aspiration Cytology of Langerhans Cell Histiocytosis of Mandible: A Case Report.
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Sang Ryung Lee, Jae Hee Suh, Hee Jung Cha, Young Min Kim, Hye Jeong Choi
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Korean J Pathol. 2010;44(1):106-109.
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DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.1.106
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Abstract
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- We present a case of mandibular involvement with Langerhans cell histiocytosis (LCH), diagnosed by ultrasound-guided aspiration and subsequently confirmed by incisional biopsy and immunohistochemistry in an eight-year-old boy. The cytologic findings included the presence of characteristic Langerhans cells of both mononucleate and multinucleate form. Diagnostic confirmation was obtained by immunopositivity for S-100 protein and CD1a of Langerhans histiocytes on paraffin-embedded sections obtained during incisional biopsy of the right mandibular area. By reporting a case of childhood LCH, we correlate the cytologic findings with histologic features and discuss the role of aspiration cytologic diagnosis in such a rare and cytomorphologically characteristic case.
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Citations
Citations to this article as recorded by  - Bronchial Washing Cytology of Pulmonary Langerhans Cell Histiocytosis: A Case Report
Taeyeong Kim, Hyeong Ju Kwon, Minseob Eom, Sang Wook Kim, Min Hi Sin, Soon-Hee Jung
Journal of Pathology and Translational Medicine.2017; 51(4): 444. CrossRef
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