Mazabraud syndrome is a rare benign disease that is accompanied by polyostotic fibrous dysplasia and intramuscular myxoma. Malignant transformation of fibrous dysplasia occurs in approximately 1% of cases. To date, only eight cases of malignant transformation, of fibrous dysplasia to osteosarcoma, in Mazabraud syndrome have been reported worldwide. The authors report the first case of osteosarcomatous transformation in a patient with Mazabraud syndrome in the Republic of Korea, focusing on imaging findings.

Mazabraud syndrome is a rare benign disease that is accompanied by polyostotic fibrous dysplasia and intramuscular myxoma. Malignant transformation of fibrous dysplasia occurs in approximately 1% of cases. To date, only eight cases of malignant transformation, of fibrous dysplasia to osteosarcoma, in Mazabraud syndrome have been reported worldwide. The authors report the first case of osteosarcomatous transformation in a patient with Mazabraud syndrome in the Republic of Korea, focusing on imaging findings.

Background and Objectives: Follicular thyroid carcinoma (FTC) is the second common thyroid cancer which comprises about 10% of differentiated thyroid carcinoma. Hurthle cell carcinoma (HCC) is a relatively rare disease that has been classified as a subtype of FTC. However, there have been insufficient reports about these two similar thyroid cancers in South Korea due to low incidences. This study aims to present clinical features and evaluate prognostic factors of FTC and HCC.Subjects and Method We reviewed data of 189 FTC and 12 HCC patients who underwent surgery in our center from January 2000 to December 2020. Variables such as clinical characteristics, surgical method, pathologic result, post-operative treatment, survival rate and prognostic factors were included in our study. Results: As for age, 67.2% of patients in FTC group and 33.3% of patients in HCC group were older than 55 years-old (p=0.017). The average tumor sizes of FTC and HCC were 2.98 and 3.1 cm, respectively. The 10-year overall survival rates of FTC and HCC were 96.5% and 100%, respectively. The 10-year disease free survival rates of FTC and HCC were 89.1% and 91.7%, respectively. Subclassification (widely invasive: p=0.036) and initial distant metastasis (p<0.001) were significant prognostic factors in FTC. Conclusion This study will be helpful for diagnosis and treatment of FTC and HCC, which are relatively rare.

Adrenocortical carcinoma is a rare type of endocrine malignancy with an annual incidence of approximately 1–2 cases per million. The majority of these tumors secrete cortisol, and a few secrete aldosterone or androgen. Estrogen-secreting adrenocortical carcinomas are extremely rare, irrespective of the secretion status of other adrenocortical hormones. Here, we report the case of a 53-year-old man with a cortisol and estrogen-secreting adrenocortical carcinoma. The patient presented with gynecomastia and abdominal discomfort. Radiological assessment revealed a tumor measuring 21×15.3×12 cm localized to the retroperitoneum. A hormonal evaluation revealed increased levels of estradiol, dehydroepiandrosterone sulfate, and cortisol. The patient underwent a right adrenalectomy, and the pathological examination revealed an adrenocortical carcinoma with a Weiss' score of 6. After surgery, he was treated with adjuvant radiotherapy. Twenty-one months after treatment, the patient remains alive with no evidence of recurrence.
Adrenal Gland Neoplasms ; Adrenalectomy ; Adrenocortical Carcinoma ; Aldosterone ; Dehydroepiandrosterone Sulfate ; Estradiol ; Gynecomastia ; Humans ; Hydrocortisone ; Incidence ; Male ; Middle Aged ; Radiotherapy, Adjuvant ; Recurrence

Adrenocortical carcinoma is a rare type of endocrine malignancy with an annual incidence of approximately 1–2 cases per million. The majority of these tumors secrete cortisol, and a few secrete aldosterone or androgen. Estrogen-secreting adrenocortical carcinomas are extremely rare, irrespective of the secretion status of other adrenocortical hormones. Here, we report the case of a 53-year-old man with a cortisol and estrogen-secreting adrenocortical carcinoma. The patient presented with gynecomastia and abdominal discomfort. Radiological assessment revealed a tumor measuring 21×15.3×12 cm localized to the retroperitoneum. A hormonal evaluation revealed increased levels of estradiol, dehydroepiandrosterone sulfate, and cortisol. The patient underwent a right adrenalectomy, and the pathological examination revealed an adrenocortical carcinoma with a Weiss' score of 6. After surgery, he was treated with adjuvant radiotherapy. Twenty-one months after treatment, the patient remains alive with no evidence of recurrence.

BACKGROUND: Trophoblast antigen 2 (TROP2) is a human trophoblast cell-surface glycoprotein that is overexpressed in several types of epithelial cancers, and is suggested to be associated with an unfavorable prognosis. BRAF mutations are the most common genetic alteration in papillary thyroid carcinoma (PTC). We evaluated the correlation between TROP2 expression and BRAF mutation in PTC. METHODS: First, we carried out pyrosequencing for BRAF mutations and immunohistochemistry for TROP2 expression with a tissue microarray consisting of 52 PTC cases. Membranous staining in at least 5% of tumor cells was designated as positive staining and we analyzed the relationship between TROP2 expression and diverse clinicopathological factors, including BRAF mutation. Second, we tested TROP2 mRNA expression in three thyroid cancer cell lines with BRAF mutations (BCPAP, SNU790, and 8505C) and a normal thyroid cell line. Additionally, we checked TROP2 protein levels in a normal thyroid cell line after introduction of the BRAF V600E mutation. RESULTS: In this study, 21 of 26 cases with BRAF mutation showed TROP2 immunoreactivity, whereas all 26 cases without BRAF mutation showed no immunoreactivity for TROP2 with a statistically significant difference (p<.001). Upregulation of TROP2 mRNA was observed in all three thyroid cancer cell lines, but not in the normal thyroid cell line. Interestingly, however, the TROP2 expression was increased in the normal thyroid cell line after introduction of the BRAF V600E mutation. CONCLUSIONS: Based on these results, we concluded that TROP2 expression is significantly associated with BRAF mutation and that TROP2 immunohistochemistry could be used for predicting BRAF mutations or diagnosing papillary thyroid carcinoma.
Cell Line ; Glycoproteins ; Humans ; Immunohistochemistry ; Prognosis ; RNA, Messenger ; Thyroid Gland ; Thyroid Neoplasms ; Trophoblasts ; Up-Regulation

BACKGROUND: Pulmonary artery banding (PAB)in the functional univentricular heart (UVH)is a palliative procedure for staging toward the Fontan procedure;however,it is known to be a risk factor. MATERIALS AND METHOD: The records of all 37 patients with functional UVHs who underwent surgical palliation using PAB between September 1989 and August 1999 were reviewed retrospectively.We investigated the aortic arch obstruction,the development and progression of subaortic stenosis after PAB,and risk factor of mortality according to surgical method. RESULT: In 37 neonates and infants with single ventricular physiology,aortic arch obstruction was combined in 7.There were 6 early deaths (16.2%)after PAB and 3 late deaths (8.1%)after Fontan operation.The actuarial overall survival including early mortality at 3 and 5 years were 8 0 .7+/-6.6%,72.2 +/-8.2% respectively. Among 31 patients who survived PAB,27 patients (87.1%)could become candidates for Fontan operation;22 patients(71.0%)completed Fontan operation with 3 deaths and 5 were waiting bidirectional cavopulmonary shunt(BCPS)or Fontan operation (follow-up mean 4.5 year,minimal 2 year). Subaortic stenosis developed in 8 patients after PAB (8/29,27.6%);3 cases in the patients without arch anomaly (3/22,13.6%)and 5 in those with arch anomal y (5/7,71.4%).The subaortic stenosis was managed with Damus-Kaye-Stansel procedure (DKS)in 6 patients without operative mortality and conal septum resection in 2 without long-term survivor. Analysis of risk factors established that aortic arch obstruction was strongly associated with subaortic stenosis (p<0.001).The only risk factor of late mortality was Fontan procedure without staged palliation by BCPS (p=0.001). CONCLUSION: PAB is effective as an initial palliative step in functional UVH.And the high risk group of patients with aortic obstruction can undergo effective short-term PAB as an initial palliative step,with subsequent DKS for subaortic stenosis.This strategy,initial PAB and careful surveillance,and early relief of subaortic stenosis can maintain acceptable anatomy and hemodynamics for later Fontan procedures.
Aorta, Thoracic ; Constriction, Pathologic ; Fontan Procedure ; Heart* ; Hemodynamics ; Humans ; Infant ; Infant, Newborn ; Mortality ; Pulmonary Artery* ; Risk Factors ; Survivors

Patients who have complex endocarditis with involvement of both the aortic and mitral valves and intervalvular fibrous skeleton are among the most difficult to treat and still have the highest surgical mortality and morbidity rates. We report one case of aortic and mitral valve replacement with reconstruction of the fibrous skeleton performed in a 55-year-old female patient who had an aortic annular abscess and both the aortic and mitral prosthetic valve endocarditis with destruction of the fibrous skeleton. Previously, she had undergone redo double valve replacement. Transesophageal echocardiogram showed the paravalvular defect at the noncoronary aortic sinus and abnormal sinus tract along the fibrous skeleton. Emergent operation was performed due to positive blood cultures of staphylococcus epidermidis and persistent sepsis despite appropriate antibiotic therapy. After aortotomy extended to the roof of left atrium, both prosthetic valves and destroyed fibrous skeleton were completely resected and the aortic annular abscess was debrided and closed with a bovine pericardial patch. Reconstructions of both aortic and mitral annuli and the fibrous skeleton were done by using two separate bovine pericardial patches in triangular shape and mechanical valves were implanted. Postoperatively, adequate antibiotic therapies were continued and the patient was discharged at the postoperative 72 days without evidence of recurrence of endocarditis. Transthoracic echocardiogram of the postoperative 8 months shows no paravalvular leakage or recurrence of endocarditis and the patient has been followed up with no symptom.
Abscess ; Endocarditis* ; Female ; Heart Atria ; Humans ; Middle Aged ; Mitral Valve* ; Mortality ; Recurrence ; Sepsis ; Sinus of Valsalva ; Skeleton* ; Staphylococcus epidermidis

BACKGROUND: The optimal therapeutic strategies for patients with coarctation of the aorta(CoA) and ventricular septal defect(VSD) remain controversial. This study was undertaken to determine the outcome and the need for reintervention following single-stage repair of coarctation with VSD in infants younger than 6 months. MATERIAL AND METHOD: Thirty three consecutive patients who underwent single-stage repair of CoA with VSD, from January 1995 to December 2000, at Sejong General Hospital were reviewed retrospectively. Mean age and body weight at repair were 54+/-37 days(12 days-171 days) and 3.9+/-1.1 kg(1.5~6 kg), respectively. The surgical repair of CoA was performed under deep hypothermic circulatory arrest(CA) in the early period of the study and under regional cerebral perfusion through a direct innominate arterial cannulation without CA in the later period. The technique used in the repair of the CoA was resection and extended end-to-end anastomosis(EEEA; n=16) and extended side-to-side anastomosis(ESSA; n=2) in the early period, and resection and extended end-to-side anastomosis(EESA; n=15) in the later period. The simultaneous closure of VSD was done with a Dacron patch(n=16) and autologous pericardium(n=17). Aortic arch hypoplasia was present in 29 patients(88%) and its types were distal(n=18), complete(n=5), and complex(n=6). RESULT: All procedures without CA were performed in 18 patients(55%) and repair of CoA without CA in 20 patients(61%). The total bypass and aortic crossclamp time were 163+/-68 minutes and 52+/-27 minutes, respectively, and the mean time used for CA was 27+/-11 minutes. There were four early postoperative deaths(12.1%). Twenty nine hospital survivors were followed up for a mean of 38+/-26 months(6 months-78 months) and recurrent coarctation has occurred in 5 patients(17.2%). Two patients underwent balloon aortic angioplasty for recurrent coarctation and the need for reoperation was not present. Actuarial freedom from recoarctation at 1 and 4 years were 85% and 78%, respectively. Actuarial freedom from recoarctation at 4 years was 92% after EESA and 77% after EEEA(p=NS). There was no late death. CONCLUSION: Single-stage repair of aortic coarctation and VSD using extended anastomosis can be performed with the acceptable operative mortality and provides adequate correction of coarctation and low risk of recoarctation.
Angioplasty ; Aorta, Thoracic ; Aortic Coarctation* ; Body Weight ; Catheterization ; Freedom ; Heart Septal Defects, Ventricular* ; Hospitals, General ; Humans ; Infant* ; Mortality ; Perfusion ; Polyethylene Terephthalates ; Reoperation ; Retrospective Studies ; Survivors

Patients with severe Ebstein's anomaly showing in the neonatal period, represent progressive cardiac enlargement with pulmonary hypoplasia and functional pulmonary atresia with patent ductus arteriosus-dependent pulmonary circulation. Biventricular repair in these patients had been mostly unsuccessful except for Starnes' procedure that converts the anatomy to single ventricle physiology for Fontan procedure. A 4-days old male was admitted with the diagnosis of severe Ebstein's anomaly with anatomic pulmonary atresia and severe cardiac enlargement. He successfully underwent biventricular repair with vertical plication method of atrialized right ventricle, tricupid annuloplasty, transannular right ventricular outflow tract reconstruction, atrial septal defect patch closure with fenestration, and right atrial reduction angioplasty. Postoperatively, cardiothoracic ratio was significantly reduced and mild tricuspid regurgitation was remnant in echocardiography. The patient is currently 10 months old and is fully active without restrictions.
Angioplasty ; Critical Illness* ; Diagnosis ; Ebstein Anomaly* ; Echocardiography ; Fontan Procedure ; Heart Septal Defects, Atrial ; Heart Ventricles ; Humans ; Infant ; Infant, Newborn* ; Male ; Physiology ; Pulmonary Atresia ; Pulmonary Circulation ; Tricuspid Valve Insufficiency