Extrahepatic biliary tract tumors are rare and among them rhabdomyosarcoma is most common. Rhabdomyosarcoma is a soft tissue malignant musculoskeletal tumor and is a very rare malignancy of the common bile duct in children. It usually presents as obstructive jaundice and/or pruritus. If there is no local invasion to the adjacent tissues, the radiological appearance of the tumor lesion is like a choledochal cyst. So the diagnosis is usually made at surgery or by preoperative biopsy. It is important to diagnose early and differentiate it from choledochal cyst and start treatment as early as possible for long time survival of the patient. This case report presented a case of a 10-year-old boy with recurrent onset of obstructive jaundice and fever preoperatively who was diagnosed as choledochal cyst and postoperatively as embryonal rhabdomyosarcoma of the common bile duct. After surgical resection and postoperative chemotherapy, the child had a good prognosis. So it is crucial to know that this rare tumor can mimic congenital choledochal cyst and it should be considered in the differential diagnosis of obstructive jaundice in children.
Child ; Choledochal Cyst ; Common Bile Duct/pathology* ; Diagnosis, Differential ; Humans ; Jaundice, Obstructive/etiology* ; Male ; Rhabdomyosarcoma, Embryonal/diagnosis*

BACKGROUND: Primary breast sarcoma (PBS) is rare, comprising approximately 1% of breast malignancies. Rhabdomyosarcoma (RMS) accounts for an extremely small proportion of PBSs, often leading to delayed histologic confirmation. METHODS: Upon reviewing Asan Medical Center’s pathology database between 2000 and 2018, 41 PBS cases were retrieved, including three cases of primary RMS of the breast. Their clinicopathological features were analyzed, and the literature related to PBS and primary RMS of the breast was reviewed. RESULTS: We identified three primary breast RMS cases from our institution database, comprising 7.3% of PBS: one case each of spindle cell/sclerosing RMS (ssRMS), alveolar RMS (aRMS), and embryonal RMS (eRMS). All cases involved adolescents or young adults (14, 16, and 25 years, respectively) who underwent mastectomy or radiotherapy and were confirmed using immunohistochemical testing for myogenin, desmin, and myogenic differentiation. The ssRMS patient experienced recurrence at the operation site 4 months post-surgery despite undergoing concurrent chemoradiotherapy. The aRMS patient had multiple metastases at diagnosis and showed FAX3-FOXO1 fusion transcripts; she died 22 months after the diagnosis. The eRMS patient had enlarged axillary lymph nodes; post-radiotherapy, the lesion recurred as multiple metastases to the bone and lung. She died 18 months post-diagnosis. CONCLUSIONS: Our experience on RMS cases suggests that spindle cell or small round cell malignancy in breasts of young female should raise suspicion for the possibility of primary or secondary RMS. To our knowledge, this is the second report of primary breast ssRMS and it may help clinicians who encounter this rare disease in the future.
Adolescent ; Arm ; Breast ; Chemoradiotherapy ; Chungcheongnam-do ; Desmin ; Diagnosis ; Female ; Humans ; Lung ; Lymph Nodes ; Mastectomy ; Myogenin ; Neoplasm Metastasis ; Pathology ; Radiotherapy ; Rare Diseases ; Recurrence ; Rhabdomyosarcoma ; Sarcoma ; Young Adult

Abscess ; pathology ; Acute Disease ; Female ; Humans ; Infant ; Mastoid ; pathology ; Otitis Media ; diagnosis ; Rhabdomyosarcoma ; diagnosis

Small round cell tumors (SRCTs) are a heterogeneous group of neoplasms composed of small, primitive, and undifferentiated cells sharing similar histology under light microscopy. SRCTs include Ewing sarcoma/peripheral neuroectodermal tumor family tumors, neuroblastoma, desmoplastic SRCT, rhabdomyosarcoma, poorly differentiated round cell synovial sarcoma, mesenchymal chondrosarcoma, small cell osteosarcoma, small cell malignant peripheral nerve sheath tumor, and small cell schwannoma. Non-Hodgkin\'s malignant lymphoma, myeloid sarcoma, malignant melanoma, and gastrointestinal stromal tumor may also present as SRCT. The current shift towards immunohistochemistry and cytogenetic molecular techniques for SRCT may be inappropriate because of antigenic overlapping or inconclusive molecular results due to the lack of differentiation of primitive cells and unavailable genetic service or limited moleculocytogenetic experience. Although usage has declined, electron microscopy (EM) remains very useful and shows salient features for the diagnosis of SRCTs. Although EM is not always required, it provides reliability and validity in the diagnosis of SRCT. Here, the ultrastructural characteristics of SRCTs are reviewed and we suggest that EM would be utilized as one of the reliable modalities for the diagnosis of undifferentiated and poorly differentiated SRCTs.
Chondrosarcoma, Mesenchymal ; Cytogenetics ; Diagnosis ; Gastrointestinal Stromal Tumors ; Genetic Services ; Humans ; Immunohistochemistry ; Lymphoma ; Melanoma ; Microscopy ; Microscopy, Electron ; Microscopy, Electron, Transmission* ; Neurilemmoma ; Neuroblastoma ; Neuroectodermal Tumors ; Osteosarcoma ; Pathology ; Peripheral Nerves ; Reproducibility of Results ; Rhabdomyosarcoma ; Sarcoma, Myeloid ; Sarcoma, Synovial

Soft tissue tumors are classified into benign and malignant on the basis of the patient's age, medical history, physical examination, pathological and radiologic examination. We have to caution against misdiagnosis of malignant tumor which can delay the treatment time. Lipoma, schwannoma, hemangioma, and ganglion cysts are common benign tumors, usually of small size and are often located in the superficial layer. Although it may be suspected as a benign tumor, performing contrast-enhanced magnetic resonance maging is preferably advantageous. Liposarcoma and undifferentiated pleomorphic sarcoma, the most common malignant soft tissue tumors, usually occur after middle age; rhabdomyosarcoma is usually presented in children and synovial sarcoma often occurs at a younger age. The magnetic resonance (MR) signal intensity of lipoma shows uniformity with subcutaneous fat, sarcoma should be suspected if it has a contrast-enhanced and non-fat-suppressed part. The MR signals of ganglion cysts show homogeneous and same signal intensity with joint fluid and urine, while the liquid containing sarcoma, like synovial sarcoma, is characterized by heterogeneous signal intensity and contrast enhancement. If surgery is performed, an incision should be made in the longitudinal direction of the limb and the excised tumor should be sent for pathology analysis. When the macroscopic finding of the tumor during surgery is different from the expected diagnosis, the operation should cease with biopsy only or the small superficial tumor can be excised widely if possible. The transfer should be considered unless you can be sure of a benign tumor in hands and feet of children. When diagnosed as malignant tumors, patients should be provided with sufficient information that can lead them to a musculoskeletal tumor specialist.
Biopsy ; Child ; Diagnosis* ; Diagnostic Errors ; Extremities ; Foot ; Ganglion Cysts ; Hand ; Hemangioma ; Humans ; Joints ; Lipoma ; Liposarcoma ; Middle Aged ; Neurilemmoma ; Pathology ; Physical Examination ; Rhabdomyosarcoma ; Sarcoma ; Sarcoma, Synovial ; Specialization ; Subcutaneous Fat

Rhabdomyosarcoma is a kind of skeletal muscle ifferentiation tendency of primitive mesenchymal malignant tumor. It is common in pediatric malignant pleomorphic rhabdomyosarcoma, and its prognosis is poor. It is easy to relapse, and its predilection sites in head and face were around the eyes, the external auditory meatus, nasal cavity and paranasal sinuses. We should take comprehensive treatment including surgical operation, radiotherapy and chemotherapy drug combination for embryonal rhabdomyosarcoma.
Child ; Ear Canal ; pathology ; Humans ; Infant ; Nasal Cavity ; pathology ; Orbit ; pathology ; Paranasal Sinuses ; pathology ; Prognosis ; Rhabdomyosarcoma, Embryonal ; diagnosis ; therapy

OBJECTIVE: To investigate the clinical prognostic impact factors of adult sinonasal rhabdomyosarcoma (SNRMS). METHOD: The clinical features, treatment methods, and disease outcome were reviewed retrospectively for twenty-three adult SNRMS between 2006 January and 2014 December. The survival analysis was performed by Kaplan-Meier estimate and the comparison between groups by Log-rank test. Multivariate analysis was carried out by Cox proportional hazard model. RESULT: Patients' ages ranged from 18 to 59 years (median, 23.2 years). With a median follow-up of 20 moths (3-47 moths), 14 cases dead and 9 cases alive, the 1-year and 2-year overall survival (OS) rates were 77.1% and 35.0%, respectively. Within the 1-year and 2-year OS rates,early stage group had a higher overall survival rates than advanced diease group (100.0%, 66.7% and 83.3%, 10.5%, P < 0.05); combined therapy group had a higher overall survival rates than single treatment group (86.7%, 50.0% and 50.8%, 0, P < 0.05). In the non-metastasis group (21 cases), 1-year and 2-year distant metastasis rates were 38.1% and 70.5%, respectively. Multivariate analysis showed that radiotherapy, chemotherapy and tumor diameter less than 5 cm were good prognostic factors (P < 0.05), while the lymph node metastasis, meningeal involvement and orbital involvement were poor prognostic factors (P < 0 05). In the 14 cases of dead patients, 92 8% (13/14) died of distant metastasis. CONCLUSION Adult RMS had a high advanced rate with poor prognosis. Distant metastasis is the leading cause of death. Controlling distant metastasis is a key to improve the survival rate.
Adolescent ; Adult ; Humans ; Lymphatic Metastasis ; Middle Aged ; Multivariate Analysis ; Paranasal Sinus Neoplasms ; diagnosis ; mortality ; pathology ; Prognosis ; Proportional Hazards Models ; Retrospective Studies ; Rhabdomyosarcoma ; diagnosis ; mortality ; pathology ; Survival Analysis ; Survival Rate ; Treatment Outcome ; Young Adult

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

Chromosomal Proteins, Non-Histone ; metabolism ; DNA-Binding Proteins ; metabolism ; Diagnosis, Differential ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Keratins ; metabolism ; Male ; Mucin-1 ; metabolism ; Phosphopyruvate Hydratase ; metabolism ; Rhabdoid Tumor ; metabolism ; pathology ; surgery ; Rhabdomyosarcoma ; metabolism ; pathology ; S100 Proteins ; metabolism ; SMARCB1 Protein ; Sarcoma ; metabolism ; pathology ; Sarcoma, Clear Cell ; metabolism ; pathology ; Skin Neoplasms ; metabolism ; pathology ; surgery ; Transcription Factors ; metabolism ; Vimentin ; metabolism

Biopsy ; Bronchial Neoplasms ; diagnosis ; pathology ; surgery ; Bronchoscopy ; Child ; Diagnosis, Differential ; Fatal Outcome ; Female ; Humans ; Lung ; diagnostic imaging ; surgery ; Lung Neoplasms ; diagnosis ; pathology ; surgery ; Neoplasm Metastasis ; Rhabdomyosarcoma, Embryonal ; diagnosis ; pathology ; surgery ; Tomography, X-Ray Computed