<p>Low-grade endometrial stromal sarcoma (LG-ESS) can present diagnostic challenges, due to its overlapping morphological features with other uterine mesenchymal tumors. Misdiagnosis rates remain significant, and immunohistochemical data for LG-ESS are limited to small series and inconsistent antibody panels. This study aimed to refine the IHC profile of LG-ESS by analyzing a large, molecularly confirmed series of 147 cases using a panel of 24 antibodies, including newer markers like transgelin and smoothelin. CD10 and IFITM1, key endometrial stromal markers, were expressed in 86% (92% of those extensively) and 69% (60% of those extensively) of cases, with fusion-positive tumors showing significantly higher expression. Smooth muscle markers (α-SMA, desmin, h-caldesmon, calponin, transgelin) were variably expressed, predominantly in focal or low-intensity patterns, with α-SMA reaching the highest frequency of expression (44%). However, the intensity of smooth muscle marker expression was usually very low. Smoothelin was rarely expressed. Hormone receptors were frequently positive, with PR showing a higher frequency (92% vs. 83%) and intensity than ER. Markers like S-100, HMB45, and CD117 were largely negative; all tumors were p53 wild-type, with preserved SMARCB1/SMARCA4 expression and ALK and ROS1 negativity. This work represents the largest molecularly validated IHC study on LG-ESS, providing a robust diagnostic profile for routine pathology. By addressing key diagnostic limitations and examining newer markers, our study supports a more standardized approach to diagnosing LG-ESS and underscores the value of immunohistochemical panels, particularly in fusion-negative tumors where diagnosis relies on morphological and immunohistochemical interpretation. These findings contribute critical data for improving diagnostic accuracy.</p>

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Immunohistochemical analysis of 147 cases of low-grade endometrial stromal sarcoma: refining the immunohistochemical profile of LG-ESS on a large, molecularly confirmed series

  • Miroslava Flídrová,
  • Pavel Dundr,
  • Romana Vránková,
  • Kristýna Němejcová,
  • David Cibula,
  • Renata Poncová,
  • Květoslava Michalová,
  • Jiří Bouda,
  • Jan Laco,
  • Munachiso Ndukwe,
  • Janusz Ryś,
  • Mariusz Książek,
  • Alberto Berjon,
  • Ignacio Zapardiel,
  • Ivan Franin,
  • Antonela Njavro,
  • Jitka Hausnerová,
  • Petra Bretová,
  • Vladimír Židlík,
  • Jaroslav Klát,
  • Zoard Tibor Krasznai,
  • Robert Poka,
  • Nataliya Volodko,
  • Iryna Yezhova,
  • Radovan Pilka,
  • Radim Marek,
  • Georgina Kolnikova,
  • Milan Krkoška,
  • Michael Halaška,
  • Jana Drozenová,
  • Dagmar Dolinská,
  • Vladimír Kalist,
  • Marcin Bobiński,
  • Marta Ostrowska-Leśko,
  • Magdalena Bizoń,
  • Włodzimierz Sawicki,
  • Maciej Stukan,
  • Karolina Grabowska,
  • Marcin Jędryka,
  • Tymoteusz Poprawski,
  • Simona Stolnicu,
  • Mihai Emil Căpîlna,
  • Zuzana Špůrková,
  • Michal Zikán,
  • Francesca Ciccarone,
  • Giovanni Scambia,
  • Archil Sharashenidze,
  • Miranda Gudadze,
  • Tetiana Piatnytska,
  • Ihor Varchak,
  • Michaela Kendall Bártů

摘要

Low-grade endometrial stromal sarcoma (LG-ESS) can present diagnostic challenges, due to its overlapping morphological features with other uterine mesenchymal tumors. Misdiagnosis rates remain significant, and immunohistochemical data for LG-ESS are limited to small series and inconsistent antibody panels. This study aimed to refine the IHC profile of LG-ESS by analyzing a large, molecularly confirmed series of 147 cases using a panel of 24 antibodies, including newer markers like transgelin and smoothelin. CD10 and IFITM1, key endometrial stromal markers, were expressed in 86% (92% of those extensively) and 69% (60% of those extensively) of cases, with fusion-positive tumors showing significantly higher expression. Smooth muscle markers (α-SMA, desmin, h-caldesmon, calponin, transgelin) were variably expressed, predominantly in focal or low-intensity patterns, with α-SMA reaching the highest frequency of expression (44%). However, the intensity of smooth muscle marker expression was usually very low. Smoothelin was rarely expressed. Hormone receptors were frequently positive, with PR showing a higher frequency (92% vs. 83%) and intensity than ER. Markers like S-100, HMB45, and CD117 were largely negative; all tumors were p53 wild-type, with preserved SMARCB1/SMARCA4 expression and ALK and ROS1 negativity. This work represents the largest molecularly validated IHC study on LG-ESS, providing a robust diagnostic profile for routine pathology. By addressing key diagnostic limitations and examining newer markers, our study supports a more standardized approach to diagnosing LG-ESS and underscores the value of immunohistochemical panels, particularly in fusion-negative tumors where diagnosis relies on morphological and immunohistochemical interpretation. These findings contribute critical data for improving diagnostic accuracy.