Humans ; Laryngeal Neoplasms ; Larynx ; Rhabdomyoma/diagnostic imaging*

No abstract available.
Eye Movements ; Rhabdomyoma

Rhabdomyoma is the most common fetal cardiac tumor, and its development is related to tuberous sclerosis. Fetal cardiac rhabdomyomas often spontaneously regress in utero or after birth, but large tumors can cause hemodynamic obstruction. Sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used as an immunosuppressant after organ transplantation. The mTOR inhibitors are well-known to have anti-tumor activity, and they have been used for the treatment of patients with tuberous sclerosis. In the current case, fetal cardiac rhabdomyoma was completely resolved in utero during oral sirolimus treatment in the mother with tuberous sclerosis. This case shows that oral sirolimus therapy in pregnancy may be a treatment for multiple or large fetal cardiac rhabdomyomas.
Female ; Fetal Therapies ; Heart Neoplasms ; Hemodynamics ; Humans ; Mothers ; Organ Transplantation ; Parturition ; Pregnancy ; Pregnant Women ; Rhabdomyoma ; Sirolimus ; Transplants ; Tuberous Sclerosis

A 17-month-old boy was evaluated for a midline mass on his chin. The mass was anchored to the mentalis muscle with a stalk-like structure. The pathological diagnosis of the mass was rhabdomyomatous mesenchymal hamartoma. This is the first report of rhabdomyomatous mesenchymal hamartoma presenting as a midline chin mass in Korean pediatric patients.
Chin* ; Diagnosis ; Hamartoma* ; Head and Neck Neoplasms ; Humans ; Infant ; Male ; Mandibular Neoplasms ; Rhabdomyoma ; Soft Tissue Neoplasms

A 17-month-old boy was evaluated for a midline mass on his chin. The mass was anchored to the mentalis muscle with a stalk-like structure. The pathological diagnosis of the mass was rhabdomyomatous mesenchymal hamartoma. This is the first report of rhabdomyomatous mesenchymal hamartoma presenting as a midline chin mass in Korean pediatric patients.
Chin* ; Diagnosis ; Hamartoma* ; Head and Neck Neoplasms ; Humans ; Infant ; Male ; Mandibular Neoplasms ; Rhabdomyoma ; Soft Tissue Neoplasms

OBJECTIVETo investigate the clinical features in children with tuberous sclerosis complex (TSC)-associated cardiac rhabdomyomas (CRM).

METHODSThe clinical data of 15 children with TSC complicated by CRM were collected. The clinical features of the patients were analyzed, and TSC gene mutations were detected.

RESULTSEleven cases (73%) developed multiple CRM. The majority of the tumors were located in the left and right ventricles. Most tumors presented as a round-like hyperechogenic mass with a clear margin on echocardiography. Arrhythmias occurred in 3 patients and 2 patients experienced heart failure. Gene mutation tests were performed in 2 patients, and pathogenic mutations were detected in both patients, which were TSC1 mutation and TSC2 mutation, respectively. Three patients were followed up for 6 to 38 months, and their CRM shrank or regressed spontaneously.

CONCLUSIONSTSC-associated CRM is generally multiple. Heart failure and arrhythmias may occur in some patients. Echocardiography is important for diagnosis of CRM. TSC-associated CRM has an inclination to spontaneous regression. TSC can be diagnosed at a molecular genetic level by TSC gene mutation detection.

Child, Preschool ; Female ; Heart Neoplasms ; complications ; genetics ; Hemodynamics ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Rhabdomyoma ; complications ; genetics ; Tuberous Sclerosis ; etiology ; Tumor Suppressor Proteins ; genetics

The male patient was 72 years old with 10-years hoarseness. Electronic laryngoscopy showed a great pink lobulated lesion at the left back of soft palate and lateral pharyngeal wall, close to the choanal region. Neck CT revealed irregular signal intensities of soft tissue at the left wall of nasopharynx, side wall and posterior wall of oropharynx and hypopharynx, bilateral submandibular and glottic region. The patient underwent operation treatment. Histopathology showed the mass was composed of identical mature rhabdomyoma cells, with scarce interstitial substance. The tumor cells was round, oval or polygonal with eosinophilic cytoplasmic granules, longitudinal grain or grain was occasionally found. Some tumor cells arranged in disorder with match structure. Pathological diagnosis was rhabdomyoma.
Aged ; Humans ; Male ; Pharynx ; pathology ; Rhabdomyoma ; diagnosis ; pathology ; Tomography, X-Ray Computed

OBJECTIVETo investigate the clinicopathologic characteristics, differential diagnosis and biological behavior of extracardiac rhabdomyoma.

METHODSNine cases of extracardiac rhabdomyoma diagnosed between January of 1997 and July of 2014 were reviewed. The clinical, pathologic and immunohistochemical profiles were evaluated.

RESULTSThere were 5 males and 4 females at diagnosis with age ranging from 2 years and three months to 59 years (mean, 37.6 years). Sites included the head and neck region (7 cases), chest (1 case ) and vagina wall (1 case). Clinically, most cases manifested as a subcutaneous nodule or as a submucosal polypoid lesion with a mean diameter of 3.2 cm. Histologically, 4 were adult-type rhabdomyoma characterized by tightly packed large round or polygonal rhabdomyoblasts with abundant eosinophilic to clear cytoplasm; 3 were myxoid variant of fetal rhabdomyoma composed of immature myofibrils, spindled and primitive mesenchymal cells embedded in a myxoid background, 1 was an intermediate form of fetal rhabdomyoma consisting of densely arranged differentiated myoblasts with little myxoid stroma; 1 was a genital rhabdomyoma composed of elongated or strap-like myoblasts scattered in loose fibrous connective tissue. By immunohistochemistry, they showed diffuse and strong positivity for desmin, MSA and myoglobin with variable expression of myogenin. A case of intermediate type also stained for α-smooth muscle actin. Follow up data (2 months ~ 17 years) showed local recurrence in one patient 6 months after surgery.

CONCLUSIONSRhabdomyoma is a distinctively rare benign mesenchymal tumor showing skeletal muscle differentiation, which may occassionally recur if incompletely excised. Familiarity with its clinical and morphological variants is essential to avoid misdiagnosing this benign lesion as embryonal rhabdomyosarcoma.

Adolescent ; Adult ; Cell Differentiation ; Child ; Child, Preschool ; Desmin ; analysis ; Diagnosis, Differential ; Female ; Head and Neck Neoplasms ; chemistry ; pathology ; Humans ; Immunohistochemistry ; Male ; Mesenchymoma ; pathology ; Middle Aged ; Myogenin ; analysis ; Neoplasm Recurrence, Local ; Rhabdomyoma ; chemistry ; pathology ; Rhabdomyosarcoma, Embryonal ; pathology ; Thoracic Neoplasms ; chemistry ; pathology ; Thoracic Wall ; pathology ; Vaginal Neoplasms ; chemistry ; pathology

Adolescent ; Arrhythmias, Cardiac ; etiology ; Child ; Child, Preschool ; Echocardiography ; Heart Neoplasms ; diagnosis ; epidemiology ; etiology ; physiopathology ; Humans ; Incidence ; Infant ; Infant, Newborn ; Rhabdomyoma ; diagnosis ; epidemiology ; etiology ; physiopathology ; Risk Factors ; Tuberous Sclerosis ; complications ; diagnosis ; epidemiology

Autopsy ; Fetus ; Heart Neoplasms ; pathology ; Humans ; Rhabdomyoma ; pathology ; Tuberous Sclerosis ; pathology