Langerhans cell histiocytosis(LCH)is a rare disorder that primarily affects children.Considering the intricate clinical presentation of this disease,the identification of specific biomarkers associated with susceptibi...Langerhans cell histiocytosis(LCH)is a rare disorder that primarily affects children.Considering the intricate clinical presentation of this disease,the identification of specific biomarkers associated with susceptibility to LCH is essential for timely diagnosis and risk stratification.In this study,we examined the skin specimens from pediatric patients with LCH using RNAscope,immunohistochemistry,and sequencing techniques.We observed a notable correlation between elevated CCR6 expression in pathological tissues and LCH risk classification.Therefore,CCR6 expression may serve as an independent predictor of risk in clinical cases of LCH.Furthermore,the frequency of BRAF V600E mutations correlated with risk stratification.We discovered new mutations-H119Y and R108Q-in MAP2K1 in specimens with BRAF V600E mutations.Moreover,CCR6-positive tumors may exhibit an enhanced recruitment of lymphocytes expressing high CCR7 levels.展开更多
Juvenile xanthogranuloma(JXG),the most common form of non-Langerhans cell histiocytosis(non-LCH),is generally confined to the skin during infancy and early childhood.^(1)JXG rarely involves extracutaneous tissues or s...Juvenile xanthogranuloma(JXG),the most common form of non-Langerhans cell histiocytosis(non-LCH),is generally confined to the skin during infancy and early childhood.^(1)JXG rarely involves extracutaneous tissues or systemic organs,resulting in high morbidity and mortality rates.Clonality in JXG has been verified by histopathological and genetic analyses,which have shown it to be tumorous rather than a reactive disorder of JXG.^(2)However,the exact etiopathogenesis of JXG remains unclear.展开更多
Introduction:Cardiac neoplasms are particularly rare in children,and the majority of these tumors are benign.Approximately 10%of cardiac neoplasms are malignant,including soft tissue sarcomas and lymphomas.Cardiac tum...Introduction:Cardiac neoplasms are particularly rare in children,and the majority of these tumors are benign.Approximately 10%of cardiac neoplasms are malignant,including soft tissue sarcomas and lymphomas.Cardiac tumors could also be metastases.Primitive EWSR1-negative round or spindle cell undifferentiated sarcoma harboring CIC gene translocation is a highly aggressive malignancy mainly occurring in soft tissues.However,it has not yet been described in the heart.Case presentation:We report a sarcoma that arose from the right ventricle in a 1-year-old girl.Histologically,it was composed of closely arranged small round or oval undifferentiated cells with fibrovascular separation,hyaline degeneration,and geographical necrosis.Immunohistochemically,the neoplastic cells exhibited focal membrane positivity for CD99 and diffuse positivity for WT1 and ETV4.Fluorescent in situ hybridization analysis showed EWSR1-negative but CIC-positive split signals.The breakpoint was also confirmed by whole genome sequencing.Conclusion:Based on morphological,immunohistochemical and molecular findings,this cardiac mass was diagnosed as CIC-rearranged sarcoma.展开更多
基金supported by the Beijing Research Ward Excellence Program(BRWEP2024W102090104).
文摘Langerhans cell histiocytosis(LCH)is a rare disorder that primarily affects children.Considering the intricate clinical presentation of this disease,the identification of specific biomarkers associated with susceptibility to LCH is essential for timely diagnosis and risk stratification.In this study,we examined the skin specimens from pediatric patients with LCH using RNAscope,immunohistochemistry,and sequencing techniques.We observed a notable correlation between elevated CCR6 expression in pathological tissues and LCH risk classification.Therefore,CCR6 expression may serve as an independent predictor of risk in clinical cases of LCH.Furthermore,the frequency of BRAF V600E mutations correlated with risk stratification.We discovered new mutations-H119Y and R108Q-in MAP2K1 in specimens with BRAF V600E mutations.Moreover,CCR6-positive tumors may exhibit an enhanced recruitment of lymphocytes expressing high CCR7 levels.
文摘Juvenile xanthogranuloma(JXG),the most common form of non-Langerhans cell histiocytosis(non-LCH),is generally confined to the skin during infancy and early childhood.^(1)JXG rarely involves extracutaneous tissues or systemic organs,resulting in high morbidity and mortality rates.Clonality in JXG has been verified by histopathological and genetic analyses,which have shown it to be tumorous rather than a reactive disorder of JXG.^(2)However,the exact etiopathogenesis of JXG remains unclear.
基金Special Fund of The Pediatric Medical Coordinated Development Center of Beijing Hospitals Authority[XTCX201806]Beijing Hospitals Authority Clinical medicine Development of Special Funding Support[XMLX202121]Beijing Advanced Innovation Center for Big Data-Based Precision Medicine,Beihang University&Capital Medical University,Beijing[BHME-201904].
文摘Introduction:Cardiac neoplasms are particularly rare in children,and the majority of these tumors are benign.Approximately 10%of cardiac neoplasms are malignant,including soft tissue sarcomas and lymphomas.Cardiac tumors could also be metastases.Primitive EWSR1-negative round or spindle cell undifferentiated sarcoma harboring CIC gene translocation is a highly aggressive malignancy mainly occurring in soft tissues.However,it has not yet been described in the heart.Case presentation:We report a sarcoma that arose from the right ventricle in a 1-year-old girl.Histologically,it was composed of closely arranged small round or oval undifferentiated cells with fibrovascular separation,hyaline degeneration,and geographical necrosis.Immunohistochemically,the neoplastic cells exhibited focal membrane positivity for CD99 and diffuse positivity for WT1 and ETV4.Fluorescent in situ hybridization analysis showed EWSR1-negative but CIC-positive split signals.The breakpoint was also confirmed by whole genome sequencing.Conclusion:Based on morphological,immunohistochemical and molecular findings,this cardiac mass was diagnosed as CIC-rearranged sarcoma.
