BACKGROUND Oncocytic carcinoma of the thyroid is a rare disease,characterized by a poor prognosis and low response rate to radioiodine therapy.Crizotinib is a specific anaplastic lymphoma kinase(ALK)inhibitor,which wa...BACKGROUND Oncocytic carcinoma of the thyroid is a rare disease,characterized by a poor prognosis and low response rate to radioiodine therapy.Crizotinib is a specific anaplastic lymphoma kinase(ALK)inhibitor,which was initially developed in non-small cell lung cancer.Other solid tumors harboring a translocation in ALK have been described,such as renal carcinoma,thyroid,colorectal,ovarian cancers,and spitzoid melanoma.The research of ALK rearrangements in thyroid tumor is a promising therapeutic track,and treatments need to be explored.CASE SUMMARY We report the case of a 76-year-old woman with a history of multinodular goiter,who was hospitalized for impairment of her general condition.She was diagnosed with metastatic oncocytic thyroid cancer.Synchrone metastases were found:Multiple mediastinal lymphadenopathies,lytic bone lesions and bilateral mammary lumps.Fluorescence in situ hybridization analysis revealed an ALK rearrangement in 61%of cells.No other mutation was found.A tumor board discussion based on molecular characteristics of the tumor suggested initiating a daily treatment by crizotinib,a specific ALK inhibitor.A positron emission tomography scan performed 4 mo after the initiation of crizotinib showed a complete metabolic response.CONCLUSION This case highlights an unexpected efficacy of crizotinib in an ALK-rearranged thyroid tumor,and the need of further assessments.展开更多
BACKGROUND Oncocytic adrenocortical tumor(OACT)is rare,with few cases reported in the literature.No more than 20 cases in children have been reported.The clinical characteristics,diagnosis,treatment and prognosis of c...BACKGROUND Oncocytic adrenocortical tumor(OACT)is rare,with few cases reported in the literature.No more than 20 cases in children have been reported.The clinical characteristics,diagnosis,treatment and prognosis of children with OACT are summarized based on a literature review,in order to improve the understanding of OACT in children.CASE SUMMARY We report a case of a 17-mo-old patient who was admitted to our hospital due to symptoms of odynuria and fever,which are clinical features consistent with a functional adrenocortical tumor.The patient was diagnosed with OACT of uncertain malignant potential.Computed tomography indicated a soft tissue giant tumor in the right adrenal region,approximately 4.3 cm×5.5 cm in size.Multiple nodular and speckled calcifications were observed in the lesion.The patient received robot-assisted laparoscopic right adrenal tumor resection.Postoperative pathological results were consistent with OACT,and immunohistochemical results showed cytokeratin+/-,chromogranin A+,synaptophysin-,neuronspecific enolase-,S100-,Ki67 about 10%,CD34-and D2-40-.After surgery,urinary tract ultrasonography was reviewed monthly,catecholamine hormone and sex hormone levels were examined every 2 mo and computed tomography was performed every 6 mo.To date,no tumor metastasis or recurrence has been identified in this patient.The levels of sex hormones and catecholamine hormones decreased to normal 1 mo after surgery.CONCLUSION OACT is rare in the pediatric population,with few cases reported in the literature.Although most pediatric OACTs are benign,malignant cases have been reported.Surgical resection is the preferred option in most patients.展开更多
Chromophobe renal cell carcinoma(ChRCC)is the third most common renal cell carcinoma(RCC)subtype,which predominantly occurs in sporadic setting.ChRCCs are considered to originate from the intercalated cell of distal t...Chromophobe renal cell carcinoma(ChRCC)is the third most common renal cell carcinoma(RCC)subtype,which predominantly occurs in sporadic setting.ChRCCs are considered to originate from the intercalated cell of distal tubules with two main morphological variants,classic and eosinophilic.Most ChRCCs carry a favorable clinical outcome.Histology alone is limited in predicting the behavior of ChRCCs that do not have overtly aggressive morphologic findings such as necrosis and sarcomatoid features.Along with positive CD117 expression,classic ChRCCs generally express diffuse and uniform CK7,while eosinophilic variant demonstrates more heterogeneous CK7 expression(rare or patchy).Multiple losses of chromosomes 1,2,6,10,13,17,and 21 are considered to be the genetic hallmarks of classic and eosinophilic ChRCCs,while chromosomal gains are known to be associated with sarcomatoid ChRCCs.TP53 and PTEN are the two most frequently mutated genes in ChRCCs.The major challenge in the differential diagnosis of ChRCCs includes considerations around the eosinophilic variant(of ChRCCs),where it may share overlapping features with oncocytoma or other recent emergent oncocytic tumors.Most eosinophilic ChRCCs share expression of the recently described biomarkers,LINC01187 and FOXI1,with classic ChRCCs,however,a subset of eosinophilic-like ChRCCs with lower biomarker expression have been demonstrated to harbor MTOR gene mutations.Overall,the morphologic features of ChRCCs and genetic profile with combinations of chromosomal losses and gains suggest this tumor entity to represent a distinct,yet heterogeneous group of renal neoplasms.展开更多
文摘BACKGROUND Oncocytic carcinoma of the thyroid is a rare disease,characterized by a poor prognosis and low response rate to radioiodine therapy.Crizotinib is a specific anaplastic lymphoma kinase(ALK)inhibitor,which was initially developed in non-small cell lung cancer.Other solid tumors harboring a translocation in ALK have been described,such as renal carcinoma,thyroid,colorectal,ovarian cancers,and spitzoid melanoma.The research of ALK rearrangements in thyroid tumor is a promising therapeutic track,and treatments need to be explored.CASE SUMMARY We report the case of a 76-year-old woman with a history of multinodular goiter,who was hospitalized for impairment of her general condition.She was diagnosed with metastatic oncocytic thyroid cancer.Synchrone metastases were found:Multiple mediastinal lymphadenopathies,lytic bone lesions and bilateral mammary lumps.Fluorescence in situ hybridization analysis revealed an ALK rearrangement in 61%of cells.No other mutation was found.A tumor board discussion based on molecular characteristics of the tumor suggested initiating a daily treatment by crizotinib,a specific ALK inhibitor.A positron emission tomography scan performed 4 mo after the initiation of crizotinib showed a complete metabolic response.CONCLUSION This case highlights an unexpected efficacy of crizotinib in an ALK-rearranged thyroid tumor,and the need of further assessments.
文摘BACKGROUND Oncocytic adrenocortical tumor(OACT)is rare,with few cases reported in the literature.No more than 20 cases in children have been reported.The clinical characteristics,diagnosis,treatment and prognosis of children with OACT are summarized based on a literature review,in order to improve the understanding of OACT in children.CASE SUMMARY We report a case of a 17-mo-old patient who was admitted to our hospital due to symptoms of odynuria and fever,which are clinical features consistent with a functional adrenocortical tumor.The patient was diagnosed with OACT of uncertain malignant potential.Computed tomography indicated a soft tissue giant tumor in the right adrenal region,approximately 4.3 cm×5.5 cm in size.Multiple nodular and speckled calcifications were observed in the lesion.The patient received robot-assisted laparoscopic right adrenal tumor resection.Postoperative pathological results were consistent with OACT,and immunohistochemical results showed cytokeratin+/-,chromogranin A+,synaptophysin-,neuronspecific enolase-,S100-,Ki67 about 10%,CD34-and D2-40-.After surgery,urinary tract ultrasonography was reviewed monthly,catecholamine hormone and sex hormone levels were examined every 2 mo and computed tomography was performed every 6 mo.To date,no tumor metastasis or recurrence has been identified in this patient.The levels of sex hormones and catecholamine hormones decreased to normal 1 mo after surgery.CONCLUSION OACT is rare in the pediatric population,with few cases reported in the literature.Although most pediatric OACTs are benign,malignant cases have been reported.Surgical resection is the preferred option in most patients.
文摘Chromophobe renal cell carcinoma(ChRCC)is the third most common renal cell carcinoma(RCC)subtype,which predominantly occurs in sporadic setting.ChRCCs are considered to originate from the intercalated cell of distal tubules with two main morphological variants,classic and eosinophilic.Most ChRCCs carry a favorable clinical outcome.Histology alone is limited in predicting the behavior of ChRCCs that do not have overtly aggressive morphologic findings such as necrosis and sarcomatoid features.Along with positive CD117 expression,classic ChRCCs generally express diffuse and uniform CK7,while eosinophilic variant demonstrates more heterogeneous CK7 expression(rare or patchy).Multiple losses of chromosomes 1,2,6,10,13,17,and 21 are considered to be the genetic hallmarks of classic and eosinophilic ChRCCs,while chromosomal gains are known to be associated with sarcomatoid ChRCCs.TP53 and PTEN are the two most frequently mutated genes in ChRCCs.The major challenge in the differential diagnosis of ChRCCs includes considerations around the eosinophilic variant(of ChRCCs),where it may share overlapping features with oncocytoma or other recent emergent oncocytic tumors.Most eosinophilic ChRCCs share expression of the recently described biomarkers,LINC01187 and FOXI1,with classic ChRCCs,however,a subset of eosinophilic-like ChRCCs with lower biomarker expression have been demonstrated to harbor MTOR gene mutations.Overall,the morphologic features of ChRCCs and genetic profile with combinations of chromosomal losses and gains suggest this tumor entity to represent a distinct,yet heterogeneous group of renal neoplasms.
