The Experts below are selected from a list of 1269 Experts worldwide ranked by ideXlab platform
Sarah Chiang - One of the best experts on this subject based on the ideXlab platform.
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BCOR is a robust diagnostic immunohistochemical marker of genetically diverse high-grade endometrial stromal sarcoma, including tumors exhibiting variant morphology
Modern Pathology, 2017Co-Authors: Sarah Chiang, Lien N Hoang, Martee L Hensley, Colin J.r. Stewart, Esther Oliva, Javier A Arias-stella, Denise Frosina, Achim A Jungbluth, Ryma Benayed, Marc LadanyiAbstract:Recognition of high-grade endometrial stromal sarcoma is important because of its aggressive clinical behavior. Morphologic features of YWHAE-NUTM2 high-grade endometrial stromal sarcoma may overlap with other uterine sarcoma types. BCOR immunoexpression was studied in these tumors and their morphologic mimics to assess its diagnostic utility. BCOR immunohistochemical staining was performed on archival tissue from 28 high-grade endometrial stromal sarcomas with classic morphology (20 YWHAE-NUTM2 , 5 ZC3H7B-BCOR , 3 BCOR-ZC3H7B) , 3 high-grade endometrial stromal sarcomas with unusual morphology and unknown gene rearrangement status, 66 low-grade endometrial stromal sarcomas, 21 endometrial stromal nodules, 38 uterine leiomyosarcomas, and 19 uterine leiomyomas. Intensity of nuclear staining and percentage of positive tumor cells were recorded. Strong diffuse nuclear BCOR staining (defined as >95% of tumor cells) was seen in the round cell component of all 20 (100%) classic YWHAE-NUTM2 high-grade endometrial stromal sarcomas and the 3 unusual high-grade endometrial stromal sarcomas which prompted FISH studies confirming YWHAE rearrangement in 2 tumors. Genomic PCR confirmed the presence of BCOR exon 16 internal tandem duplication in the third case. Diffuse BCOR staining was strong in three and weak in one BCOR -rearranged high-grade endometrial stromal sarcoma while absent in the remaining four BCOR -rearranged tumors. BCOR staining was weakly positive in
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YWHAE rearranged high grade endometrial stromal sarcoma two center case series and response to chemotherapy
Gynecologic Oncology, 2017Co-Authors: Matthew L Hemming, Sarah Chiang, Andrew J Wagner, Marisa R Nucci, Lu Wang, Martee L Hensley, Suzanne GeorgeAbstract:Objectives YWHAE-rearranged high-grade endometrial stromal sarcoma (HG-ESS) is a rare, recently defined uterine sarcoma harboring t(10;17)(q22;p13) resulting in YWHAE-NUTM2A/B fusion. Chemotherapy sensitivity of metastatic YWHAE-rearranged HG-ESS is unknown. We reviewed the response to chemotherapy in women with YWHAE-rearranged HG-ESS to provide guidance for clinical management.
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frequent expression of kit in endometrial stromal sarcoma with YWHAE genetic rearrangement
Modern Pathology, 2014Co-Authors: Lien N Hoang, Grant Eilers, Sarah Chiang, Jonathan A. Fletcher, Robert A Soslow, Carolina Reyes, Marisa R Nucci, Adrian Marinoenriquez, Esther OlivaAbstract:Frequent expression of KIT in endometrial stromal sarcoma with YWHAE genetic rearrangement
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Frequent expression of KIT in endometrial stromal sarcoma with YWHAE genetic rearrangement
Modern Pathology, 2014Co-Authors: Cheng-han Lee, Adrian Marino-enriquez, Derrick Tao, Stephen Yip, Grant Eilers, Sarah Chiang, Lien N Hoang, Jonathan A. Fletcher, Carolina Reyes, Robert A SoslowAbstract:Endometrial stromal sarcomas with the YWHAE-NUTM2A/B genetic fusion characteristically contain high-grade round to epithelioid cell component that is strongly and diffusely cyclin D1-positive and it may or may not show an associated low-grade fibroblastic/myxoid cell component. They are clinically more aggressive than endometrial stromal sarcomas with the JAZF1-SUZ12 genetic fusion and frequently demonstrate extrauterine extension at initial clinical presentation. In this setting, the tumor may be misdiagnosed as gastrointestinal stromal tumor. This study examines the expression of KIT and ANO1 in 14 YWHAE-NUTM2A/B tumors by immunohistochemistry. Staining localization was determined as membranous and/or cytoplasmic, and the staining intensity was assessed (negative, weak, moderate and strong). Of the 14 tumors, 6 contained only a high-grade round cell component, 2 only a low-grade fibroblastic component and 6 had both components in the slides evaluated. The high-grade round cell component displayed moderate to strong membranous/cytoplasmic KIT staining in all tumors (12 of 12). The low-grade fibroblastic cell component showed only weak cytoplasmic KIT staining in 3 of 8 tumors. In contrast, ANO1 was negative in all 14 neoplasms, irrespective of the component evaluated. Sanger sequencing analysis (exons 9, 11, 13 and 17) and Ampliseq Cancer Panel mutation screen (Ion Torrent) demonstrated no KIT mutations in three KIT-positive YWHAE-NUTM2A/B tumors. This study shows that the high-grade round cell component of YWHAE-NUTM2A/B endometrial stromal sarcoma consistently expresses KIT but lacks KIT hotspot mutations. KIT expression may represent a potential diagnostic pitfall in the evaluation of YWHAE-NUTM2A/B endometrial stromal sarcoma presenting with pelvic/ abdominal mass, particularly in situations where its uterine origin is not definitive, and thus a panel of antibodies that includes ANO1 and cyclin D1 is necessary.
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cyclin d1 as a diagnostic immunomarker for endometrial stromal sarcoma with YWHAE fam22 rearrangement
The American Journal of Surgical Pathology, 2012Co-Authors: Marjan Rouzbahman, Sarah Chiang, Nataliya Nelnyk, Blake C Gilks, David G Huntsman, Torsten O Nielsen, Alayne L. Brunner, Adrian Marinoenriquez, Samuel Leung, Matt Van De RijnAbstract:Endometrial stromal sarcoma (ESS) characterized by YWHAE-FAM22 genetic fusion is histologically higher grade and clinically more aggressive than ESS with JAZF1-SUZ12 or equivalent genetic rearrangements, hence it is clinically important to recognize this subset of ESS. To identify diagnostic immunom
Lien N Hoang - One of the best experts on this subject based on the ideXlab platform.
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Novel High-grade Endometrial Stromal Sarcoma: A Morphologic Mimicker of Myxoid Leiomyosarcoma.
The American Journal of Surgical Pathology, 2020Co-Authors: Lien N Hoang, Martee L Hensley, Ryma Benayed, Amandeep Aneja, Niamh Conlon, Deborah Delair, Sumit Middha, Kay J. Park, Travis J. Hollmann, Meera HameedAbstract:Endometrial stromal sarcomas (ESS) are often underpinned by recurrent chromosomal translocations resulting in the fusion of genes involved in epigenetic regulation. To date, only YWHAE-NUTM2 rearrangements are associated with distinctive high-grade morphology and aggressive clinical behavior. We ide
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BCOR is a robust diagnostic immunohistochemical marker of genetically diverse high-grade endometrial stromal sarcoma, including tumors exhibiting variant morphology
Modern Pathology, 2017Co-Authors: Sarah Chiang, Lien N Hoang, Martee L Hensley, Colin J.r. Stewart, Esther Oliva, Javier A Arias-stella, Denise Frosina, Achim A Jungbluth, Ryma Benayed, Marc LadanyiAbstract:Recognition of high-grade endometrial stromal sarcoma is important because of its aggressive clinical behavior. Morphologic features of YWHAE-NUTM2 high-grade endometrial stromal sarcoma may overlap with other uterine sarcoma types. BCOR immunoexpression was studied in these tumors and their morphologic mimics to assess its diagnostic utility. BCOR immunohistochemical staining was performed on archival tissue from 28 high-grade endometrial stromal sarcomas with classic morphology (20 YWHAE-NUTM2 , 5 ZC3H7B-BCOR , 3 BCOR-ZC3H7B) , 3 high-grade endometrial stromal sarcomas with unusual morphology and unknown gene rearrangement status, 66 low-grade endometrial stromal sarcomas, 21 endometrial stromal nodules, 38 uterine leiomyosarcomas, and 19 uterine leiomyomas. Intensity of nuclear staining and percentage of positive tumor cells were recorded. Strong diffuse nuclear BCOR staining (defined as >95% of tumor cells) was seen in the round cell component of all 20 (100%) classic YWHAE-NUTM2 high-grade endometrial stromal sarcomas and the 3 unusual high-grade endometrial stromal sarcomas which prompted FISH studies confirming YWHAE rearrangement in 2 tumors. Genomic PCR confirmed the presence of BCOR exon 16 internal tandem duplication in the third case. Diffuse BCOR staining was strong in three and weak in one BCOR -rearranged high-grade endometrial stromal sarcoma while absent in the remaining four BCOR -rearranged tumors. BCOR staining was weakly positive in
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frequent expression of kit in endometrial stromal sarcoma with YWHAE genetic rearrangement
Modern Pathology, 2014Co-Authors: Lien N Hoang, Grant Eilers, Sarah Chiang, Jonathan A. Fletcher, Robert A Soslow, Carolina Reyes, Marisa R Nucci, Adrian Marinoenriquez, Esther OlivaAbstract:Frequent expression of KIT in endometrial stromal sarcoma with YWHAE genetic rearrangement
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Frequent expression of KIT in endometrial stromal sarcoma with YWHAE genetic rearrangement
Modern Pathology, 2014Co-Authors: Cheng-han Lee, Adrian Marino-enriquez, Derrick Tao, Stephen Yip, Grant Eilers, Sarah Chiang, Lien N Hoang, Jonathan A. Fletcher, Carolina Reyes, Robert A SoslowAbstract:Endometrial stromal sarcomas with the YWHAE-NUTM2A/B genetic fusion characteristically contain high-grade round to epithelioid cell component that is strongly and diffusely cyclin D1-positive and it may or may not show an associated low-grade fibroblastic/myxoid cell component. They are clinically more aggressive than endometrial stromal sarcomas with the JAZF1-SUZ12 genetic fusion and frequently demonstrate extrauterine extension at initial clinical presentation. In this setting, the tumor may be misdiagnosed as gastrointestinal stromal tumor. This study examines the expression of KIT and ANO1 in 14 YWHAE-NUTM2A/B tumors by immunohistochemistry. Staining localization was determined as membranous and/or cytoplasmic, and the staining intensity was assessed (negative, weak, moderate and strong). Of the 14 tumors, 6 contained only a high-grade round cell component, 2 only a low-grade fibroblastic component and 6 had both components in the slides evaluated. The high-grade round cell component displayed moderate to strong membranous/cytoplasmic KIT staining in all tumors (12 of 12). The low-grade fibroblastic cell component showed only weak cytoplasmic KIT staining in 3 of 8 tumors. In contrast, ANO1 was negative in all 14 neoplasms, irrespective of the component evaluated. Sanger sequencing analysis (exons 9, 11, 13 and 17) and Ampliseq Cancer Panel mutation screen (Ion Torrent) demonstrated no KIT mutations in three KIT-positive YWHAE-NUTM2A/B tumors. This study shows that the high-grade round cell component of YWHAE-NUTM2A/B endometrial stromal sarcoma consistently expresses KIT but lacks KIT hotspot mutations. KIT expression may represent a potential diagnostic pitfall in the evaluation of YWHAE-NUTM2A/B endometrial stromal sarcoma presenting with pelvic/ abdominal mass, particularly in situations where its uterine origin is not definitive, and thus a panel of antibodies that includes ANO1 and cyclin D1 is necessary.
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YWHAE fam22 endometrial stromal sarcoma diagnosis by reverse transcription polymerase chain reaction in formalin fixed paraffin embedded tumor
Human Pathology, 2013Co-Authors: Anna Isphording, Lien N Hoang, Julie A Irving, Angela Goytain, Nataliya Nelnyk, Blake C Gilks, David G Huntsman, Torsten O NielsenAbstract:Summary A subset of endometrial stromal sarcoma harbors t(10;17)(q23;p13), which results in the genetic fusion between YWHAE and 1 of 2 highly homologous FAM22 family members— FAM22A or FAM22B . In contrast to classic low-grade endometrial stromal sarcoma with JAZF1-SUZ12 fusions, YWHAE-FAM22 endometrial stromal sarcoma displays high-grade histologic features and is associated with more aggressive disease course. Ancillary fluorescence in situ hybridization assay demonstrating the presence of YWHAE rearrangement can be used to support the diagnosis, but the detection of fusion transcript would be the most definitive test. We describe here an optimized reverse transcription–polymerase chain reaction assay for detection of YWHAE-FAM22 fusion transcript in formalin-fixed and paraffin-embedded tumor samples. We studied a series of 6 YWHAE-FAM22 endometrial stromal sarcomas, 7 JAZF-SUZ12 endometrial stromal sarcomas, 3 JAZF1-PHF1/EPC1-PHF1 endometrial stromal sarcomas, 6 undifferentiated endometrial sarcomas, 4 uterine leiomyosarcomas, and 4 uterine adenosarcomas. All 6 YWHAE-FAM22 endometrial stromal sarcomas were confirmed by fluorescence in situ hybridization assay, whereas all non– YWHAE-FAM22 tumors were confirmed to lack YWHAE rearrangement by fluorescence in situ hybridization assay. The reverse transcription–polymerase chain reaction assay optimized for formalin-fixed and paraffin-embedded samples detected YWHAE-FAM22 fusion transcripts in all 6 YWHAE-FAM22 endometrial stromal sarcomas and none of the 24 non– YWHAE-FAM22 uterine sarcomas. These findings show that this reverse transcription–polymerase chain reaction assay is sensitive and specific for detection of YWHAE-FAM22 fusion transcript and can serve as a useful adjunct diagnostic assay to confirm the diagnosis of YWHAE-FAM22 endometrial stromal sarcoma in formalin-fixed and paraffin-embedded tumor samples.
Esther Oliva - One of the best experts on this subject based on the ideXlab platform.
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BCOR is a robust diagnostic immunohistochemical marker of genetically diverse high-grade endometrial stromal sarcoma, including tumors exhibiting variant morphology
Modern Pathology, 2017Co-Authors: Sarah Chiang, Lien N Hoang, Martee L Hensley, Colin J.r. Stewart, Esther Oliva, Javier A Arias-stella, Denise Frosina, Achim A Jungbluth, Ryma Benayed, Marc LadanyiAbstract:Recognition of high-grade endometrial stromal sarcoma is important because of its aggressive clinical behavior. Morphologic features of YWHAE-NUTM2 high-grade endometrial stromal sarcoma may overlap with other uterine sarcoma types. BCOR immunoexpression was studied in these tumors and their morphologic mimics to assess its diagnostic utility. BCOR immunohistochemical staining was performed on archival tissue from 28 high-grade endometrial stromal sarcomas with classic morphology (20 YWHAE-NUTM2 , 5 ZC3H7B-BCOR , 3 BCOR-ZC3H7B) , 3 high-grade endometrial stromal sarcomas with unusual morphology and unknown gene rearrangement status, 66 low-grade endometrial stromal sarcomas, 21 endometrial stromal nodules, 38 uterine leiomyosarcomas, and 19 uterine leiomyomas. Intensity of nuclear staining and percentage of positive tumor cells were recorded. Strong diffuse nuclear BCOR staining (defined as >95% of tumor cells) was seen in the round cell component of all 20 (100%) classic YWHAE-NUTM2 high-grade endometrial stromal sarcomas and the 3 unusual high-grade endometrial stromal sarcomas which prompted FISH studies confirming YWHAE rearrangement in 2 tumors. Genomic PCR confirmed the presence of BCOR exon 16 internal tandem duplication in the third case. Diffuse BCOR staining was strong in three and weak in one BCOR -rearranged high-grade endometrial stromal sarcoma while absent in the remaining four BCOR -rearranged tumors. BCOR staining was weakly positive in
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frequent expression of kit in endometrial stromal sarcoma with YWHAE genetic rearrangement
Modern Pathology, 2014Co-Authors: Lien N Hoang, Grant Eilers, Sarah Chiang, Jonathan A. Fletcher, Robert A Soslow, Carolina Reyes, Marisa R Nucci, Adrian Marinoenriquez, Esther OlivaAbstract:Frequent expression of KIT in endometrial stromal sarcoma with YWHAE genetic rearrangement
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the clinicopathologic features of YWHAE fam22 endometrial stromal sarcomas a histologically high grade and clinically aggressive tumor
The American Journal of Surgical Pathology, 2012Co-Authors: Adrian Marinoenriquez, Sarah Chiang, Jonathan A. Fletcher, Blake C Gilks, Wen-bin Ou, Frédéric Amant, Esther Oliva, Matt Van De Rijn, Maria Debiecrychter, Marisa R NucciAbstract:Endometrial stromal sarcoma (ESS) is a genetically heterogenous group of uterine sarcomas, of which almost half are associated with JAZF1 rearrangement. We recently identi- fied a novel genetic fusion between YWHAE and FAM22A/B in ESS harboring t(10;17)(q22;p13) and herein describe the clin- icopathologic features of 13 YWHAE-FAM22 ESS cases (11 primary and 3 metastatic) and compare them with 20 ESS cases with JAZF1 rearrangement. Ten of 11 primary uterine tumors contained morphologically high-grade areas composed of round cells arranged in nests with a delicate stromal capillary network. The tumor cells showed large nuclei with irregular nuclear contours and significant mitotic activity (> 10 mitoses/10 HPF) in addition to focal tumor necrosis, in contrast to JAZF1 ESS, which lacked a nested growth pattern, were composed of cells with small round/oval nuclei, and typically had < 5 MF/ 10 HPF. In 7 of the 11 uterine tumors, there was an additional cytologically bland and mitotically weakly active spindle cell component with a fibrous/fibromyxoid stroma (ESS, fibromyx- oid variant). Two metastatic tumors (pulmonary) also contained round cell and spindle cell components, whereas 1 metastasis (vaginal) was composed solely of the spindle cell component. In both primary and metastatic tumors, the spindle cells were dif- fusely positive for estrogen and progesterone receptors and CD10, in contrast to the round cell areas, which were negative. Clinically, 10 of 12 patients with YWHAE-FAM22 ESS pre- sented with FIGO stages II to III disease, in contrast to only 4 of 16 patients with JAZF1 ESS presenting with stages II to III disease (P < 0.05). Tumors with YWHAE-FAM22 rearrange- ments constitute a distinct group of ESS, which is associated with high-grade morphology and aggressive clinical behavior com- pared to JAZF1 ESS. Thus, their distinction from typical JAZF1 ESS is important for prognostic and therapeutic purposes.
Marisa R Nucci - One of the best experts on this subject based on the ideXlab platform.
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YWHAE rearranged high grade endometrial stromal sarcoma two center case series and response to chemotherapy
Gynecologic Oncology, 2017Co-Authors: Matthew L Hemming, Sarah Chiang, Andrew J Wagner, Marisa R Nucci, Lu Wang, Martee L Hensley, Suzanne GeorgeAbstract:Objectives YWHAE-rearranged high-grade endometrial stromal sarcoma (HG-ESS) is a rare, recently defined uterine sarcoma harboring t(10;17)(q22;p13) resulting in YWHAE-NUTM2A/B fusion. Chemotherapy sensitivity of metastatic YWHAE-rearranged HG-ESS is unknown. We reviewed the response to chemotherapy in women with YWHAE-rearranged HG-ESS to provide guidance for clinical management.
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Endometrial stromal sarcoma – the new genetic paradigm
Histopathology, 2015Co-Authors: Marisa R NucciAbstract:: Endometrial stromal sarcoma (ESS) is a gynaecological sarcoma that is composed of cells that resemble those of proliferative-phase endometrial stroma. The 2014 World Health Organization tumour classification system separates ESS into low-grade and high-grade types, which are histologically, genetically and clinically distinct from undifferentiated uterine sarcoma (UUS). Low-grade ESSs frequently contain chromosomal rearrangements that result in JAZF1-SUZ12 fusion or equivalent genetic fusions. Although most low-grade ESSs show classic histological features that closely resemble those of proliferative-phase endometrial stroma, there are several histological variants that are associated with the same genetic fusions as seen in the classic type. High-grade ESS is defined by the presence of YWHAE-NUTM2A/B (YWHAE-FAM22A/B) fusions. High-grade ESSs are clinically more aggressive than low-grade ESSs, but are associated with a lower mortality rate than UUSs. The histological and immunophenotypic features of these different types of ESS, and their diagnostic considerations, are the subjects of this review.
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frequent expression of kit in endometrial stromal sarcoma with YWHAE genetic rearrangement
Modern Pathology, 2014Co-Authors: Lien N Hoang, Grant Eilers, Sarah Chiang, Jonathan A. Fletcher, Robert A Soslow, Carolina Reyes, Marisa R Nucci, Adrian Marinoenriquez, Esther OlivaAbstract:Frequent expression of KIT in endometrial stromal sarcoma with YWHAE genetic rearrangement
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the clinicopathologic features of YWHAE fam22 endometrial stromal sarcomas a histologically high grade and clinically aggressive tumor
The American Journal of Surgical Pathology, 2012Co-Authors: Adrian Marinoenriquez, Sarah Chiang, Jonathan A. Fletcher, Blake C Gilks, Wen-bin Ou, Frédéric Amant, Esther Oliva, Matt Van De Rijn, Maria Debiecrychter, Marisa R NucciAbstract:Endometrial stromal sarcoma (ESS) is a genetically heterogenous group of uterine sarcomas, of which almost half are associated with JAZF1 rearrangement. We recently identi- fied a novel genetic fusion between YWHAE and FAM22A/B in ESS harboring t(10;17)(q22;p13) and herein describe the clin- icopathologic features of 13 YWHAE-FAM22 ESS cases (11 primary and 3 metastatic) and compare them with 20 ESS cases with JAZF1 rearrangement. Ten of 11 primary uterine tumors contained morphologically high-grade areas composed of round cells arranged in nests with a delicate stromal capillary network. The tumor cells showed large nuclei with irregular nuclear contours and significant mitotic activity (> 10 mitoses/10 HPF) in addition to focal tumor necrosis, in contrast to JAZF1 ESS, which lacked a nested growth pattern, were composed of cells with small round/oval nuclei, and typically had < 5 MF/ 10 HPF. In 7 of the 11 uterine tumors, there was an additional cytologically bland and mitotically weakly active spindle cell component with a fibrous/fibromyxoid stroma (ESS, fibromyx- oid variant). Two metastatic tumors (pulmonary) also contained round cell and spindle cell components, whereas 1 metastasis (vaginal) was composed solely of the spindle cell component. In both primary and metastatic tumors, the spindle cells were dif- fusely positive for estrogen and progesterone receptors and CD10, in contrast to the round cell areas, which were negative. Clinically, 10 of 12 patients with YWHAE-FAM22 ESS pre- sented with FIGO stages II to III disease, in contrast to only 4 of 16 patients with JAZF1 ESS presenting with stages II to III disease (P < 0.05). Tumors with YWHAE-FAM22 rearrange- ments constitute a distinct group of ESS, which is associated with high-grade morphology and aggressive clinical behavior com- pared to JAZF1 ESS. Thus, their distinction from typical JAZF1 ESS is important for prognostic and therapeutic purposes.
Torsten O Nielsen - One of the best experts on this subject based on the ideXlab platform.
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YWHAE fam22 endometrial stromal sarcoma diagnosis by reverse transcription polymerase chain reaction in formalin fixed paraffin embedded tumor
Human Pathology, 2013Co-Authors: Anna Isphording, Lien N Hoang, Julie A Irving, Angela Goytain, Nataliya Nelnyk, Blake C Gilks, David G Huntsman, Torsten O NielsenAbstract:Summary A subset of endometrial stromal sarcoma harbors t(10;17)(q23;p13), which results in the genetic fusion between YWHAE and 1 of 2 highly homologous FAM22 family members— FAM22A or FAM22B . In contrast to classic low-grade endometrial stromal sarcoma with JAZF1-SUZ12 fusions, YWHAE-FAM22 endometrial stromal sarcoma displays high-grade histologic features and is associated with more aggressive disease course. Ancillary fluorescence in situ hybridization assay demonstrating the presence of YWHAE rearrangement can be used to support the diagnosis, but the detection of fusion transcript would be the most definitive test. We describe here an optimized reverse transcription–polymerase chain reaction assay for detection of YWHAE-FAM22 fusion transcript in formalin-fixed and paraffin-embedded tumor samples. We studied a series of 6 YWHAE-FAM22 endometrial stromal sarcomas, 7 JAZF-SUZ12 endometrial stromal sarcomas, 3 JAZF1-PHF1/EPC1-PHF1 endometrial stromal sarcomas, 6 undifferentiated endometrial sarcomas, 4 uterine leiomyosarcomas, and 4 uterine adenosarcomas. All 6 YWHAE-FAM22 endometrial stromal sarcomas were confirmed by fluorescence in situ hybridization assay, whereas all non– YWHAE-FAM22 tumors were confirmed to lack YWHAE rearrangement by fluorescence in situ hybridization assay. The reverse transcription–polymerase chain reaction assay optimized for formalin-fixed and paraffin-embedded samples detected YWHAE-FAM22 fusion transcripts in all 6 YWHAE-FAM22 endometrial stromal sarcomas and none of the 24 non– YWHAE-FAM22 uterine sarcomas. These findings show that this reverse transcription–polymerase chain reaction assay is sensitive and specific for detection of YWHAE-FAM22 fusion transcript and can serve as a useful adjunct diagnostic assay to confirm the diagnosis of YWHAE-FAM22 endometrial stromal sarcoma in formalin-fixed and paraffin-embedded tumor samples.
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cyclin d1 as a diagnostic immunomarker for endometrial stromal sarcoma with YWHAE fam22 rearrangement
The American Journal of Surgical Pathology, 2012Co-Authors: Marjan Rouzbahman, Sarah Chiang, Nataliya Nelnyk, Blake C Gilks, David G Huntsman, Torsten O Nielsen, Alayne L. Brunner, Adrian Marinoenriquez, Samuel Leung, Matt Van De RijnAbstract:Endometrial stromal sarcoma (ESS) characterized by YWHAE-FAM22 genetic fusion is histologically higher grade and clinically more aggressive than ESS with JAZF1-SUZ12 or equivalent genetic rearrangements, hence it is clinically important to recognize this subset of ESS. To identify diagnostic immunom
