Humans ; Perineum ; Rhabdomyosarcoma/diagnosis*

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*

Metastasis of rhabdomysarcoma to the breast is a very rare manifestation in adult males. Herein, we report a case of metastasis from embryonal rhabdomyosarcoma in the left hypothenar muscle that presented as a breast mass in a 38-year-old man, who four months later expired because of multiple bone metastases related to pancytopenia. We describe the various imaging findings, including mammograms, ultrasonography, computerized tomography (CT), positron emission tomography-computed tomography (PET-CT), and magnetic resonance imaging (MRI) of this rare disease. The various imaging findings of this lesion could be helpful for future diagnosis of male breast lesions.
Adult ; Breast ; Diagnosis ; Electrons ; Humans ; Magnetic Resonance Imaging ; Male ; Neoplasm Metastasis ; Pancytopenia ; Rare Diseases ; Rhabdomyosarcoma ; Rhabdomyosarcoma, Embryonal ; Ultrasonography

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

Rhabdomyosarcoma is a malignant soft tissue tumor which shows skeletal muscle differentiation. Leptomeningeal metastasis can occur as a late complication, but currently there are no reports that have documented the cytologic features in cerebrospinal fluid (CSF). We report a case of metastatic alveolar rhabdomyosarcoma diagnosed in the CSF of a 28-year-old male who was originally diagnosed with rhabdomyosarcoma on the neck, and that went through systemic therapy. The tumor was positive for anaplastic lymphoma kinase, but progressed despite additional therapy with crizotinib. The CSF specimen revealed small round cells, large atypical cells with abundant cytoplasm and eccentric nuclei, and cells with horseshoe-shaped nuclei. These cytologic findings were in agreement with previous literature and well-correlated with histopathology. This is the first report to document the cytologic feature of rhabdomyosarcoma in CSF. In many cases it is difficult to perform ancillary tests in a CSF specimen and cytopathologists should be aware of the cytomorphologic characteristics to avoid misdiagnosis.
Adult ; Cerebrospinal Fluid ; Cytoplasm ; Diagnosis ; Diagnostic Errors ; Humans ; Lymphoma ; Male ; Muscle, Skeletal ; Neck ; Neoplasm Metastasis ; Phosphotransferases ; Rhabdomyosarcoma ; Rhabdomyosarcoma, Alveolar

Clinical and magnetic resonance imaging (MRI) findings, histological appearances and surgical outcomes of 18 dogs and one cat with spinal tumors are presented. Medical records of the cases admitted for spinal disorders were reviewed, and cases of spinal tumors that were diagnosed by MRI and confirmed by histological examination were included in this study. T1 weighted, T2 weighted and contrast enhanced T1 weighted images were taken and interpreted to evaluate the spinal tumors. The tumors were diagnosed as: meningioma (n = 6), ependymoma (n = 1), nerve sheath tumor (n = 4), metastatic spinal tumor (n = 3), osteosarcoma (n = 2), osteoma (n = 1), rhabdomyosarcoma (n = 1), and nephroblastoma (n = 1). Thirteen cases underwent surgical operation and the remaining six cases were euthanized at the request of the owners. The neurological status of the surgical cases did not deteriorate, except for one dog that showed ependymoma in the early period after the operation. These results indicate the potential for surgical gross total tumor removal of vertebral tumors to provide better quality of life and surgical collection of histological specimens for definitive diagnosis. For effective case management, dedicated MRI examination is important to accurate evaluation of the spinal tumors, and surgical treatment is useful for extradural and intradural-extramedullary spinal tumors.
Animals ; Case Management ; Cats* ; Diagnosis ; Dogs* ; Ependymoma ; Magnetic Resonance Imaging ; Medical Records ; Meningioma ; Osteoma ; Osteosarcoma ; Quality of Life ; Rhabdomyosarcoma ; Wilms Tumor

PURPOSE: Radiotherapy (RT) is considered a mainstay of treatment in parameningeal rhabdomyosarcoma (PM-RMS). We aim to determine the treatment outcomes and prognostic factors for PM-RMS patients who treated with RT. In addition, we tried to evaluate the adequate dose and timing of RT. MATERIALS AND METHODS: Twenty-two patients with PM-RMS from 1995 to 2013 were evaluated. Seven patients had intracranial extension (ICE) and 17 patients had skull base bony erosion (SBBE). Five patients showed distant metastases at the time of diagnosis. All patients underwent chemotherapy and RT. The median radiation dose was 50.4 Gy (range, 40.0 to 56.0 Gy). RESULTS: The median follow-up was 28.7 months. Twelve patients (54.5%) experienced failure after treatment; 4 local, 2 regional, and 6 distant failures. The 5-year local control (LC) and overall survival (OS) were 77.7% and 38.5%, respectively. The 5-year OS rate was 50.8% for patients without distant metastases and 0% for patients with metastases (p < 0.001). Radiation dose (<50 Gy vs. ≥50 Gy) did not compromise the LC (p = 0.645). However, LC was affected by ICE (p = 0.031). Delayed administration (>22 weeks) of RT was related to a higher rate of local failure (40.0%). CONCLUSION: RT resulted in a higher rate of local control in PM-RMS. However, it was not extended to survival outcome. A more effective treatment for PM-RMS is warranted.
Diagnosis ; Drug Therapy ; Follow-Up Studies ; Humans ; Ice ; Meninges ; Neoplasm Metastasis ; Radiotherapy* ; Rhabdomyosarcoma* ; Skull Base

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

Neck mass can be frequently encountered in pediatric patients. Most neck mass in pediatric patients are either inflammatory lesions or benign tumors but their differential diagnoses are not always easy. We must not forget the study results that a considerable portion of pediatric neck mass constitutes malignant tumors. Generally neck mass can be divided into inflammatory, developmental (congenital), and tumorous lesions. Developmental neck mass are generally thyroglossal duct cyst, branchial cleft cyst, dermoid cyst, vascular malformation, or hemangioma. Manifestations of inflammatory neck mass are reactive cervical lymphadenopathy, infectious lymphadenitis (viral or bacterial), mycobacterial cervical lymphadenopathy, or Kawasaki disease. The more uncommonly found pediatric malignant neck mass are lymphoma, rhabdomyosarcoma, or thyroid carcinoma. For the diagnosis of pediatric neck mass complete blood count, purified protein derivative test for tuberculosis, and measurement of titers for Epstein-Barr virus are required and in special cases, infectious diagnostic panels for cat-scratch disease, cytomegalovirus, human immunodeficiency virus, or toxoplasmosis may be needed. Ultrasonography is the most convenient and feasible diagnostic method in differentiating various neck mass. Computed tomography is performed when identifying the anatomical aspects of the neck mass or where deep neck infection or retropharyngeal abscess is suspected. Surgical management for congenital neck mass is recommended to prevent secondary infection or various complications following size increase. Most pediatric neck mass originate from bacterial lymphadenitis and antibacterial therapy is considered first line of conservative treatment. However if the neck mass is either over 2 cm in size without any evidence of inflammation, firm or fixed to surrounding tissue, accompanied by B symptoms, unresponsive to initial antibacterial therapy or over 4 weeks of conservative management, or considered keep growing for over 2 weeks, one must suspect the possibility of malignancy and must consult a head and neck specialist for further detailed evaluation.
Blood Cell Count ; Branchioma ; Cat-Scratch Disease ; Coinfection ; Cytomegalovirus ; Dermoid Cyst ; Diagnosis ; Diagnosis, Differential ; Head ; Hemangioma ; Herpesvirus 4, Human ; HIV ; Humans ; Inflammation ; Lymphadenitis ; Lymphatic Diseases ; Lymphoma ; Mucocutaneous Lymph Node Syndrome ; Neck* ; Retropharyngeal Abscess ; Rhabdomyosarcoma ; Specialization ; Thyroglossal Cyst ; Thyroid Neoplasms ; Toxoplasmosis ; Tuberculosis ; Ultrasonography ; Vascular Malformations

This case reports of nasopharyngeal embryonal rhabdomyosarcoma mainly for a stuffy nose, runny nose with blood, and without typical clinical manifestations. Electronic laryngoscopy tip: nasopharyngeal neoplasm. MRI tip: nasopharyngeal carcinoma. By pathological and immunohistochemical examinations, it finally was diagnosed with nasopharyngeal embryonal rhabdomyosarcoma.
Carcinoma ; Humans ; Nasopharyngeal Carcinoma ; Nasopharyngeal Neoplasms ; diagnosis ; Rhabdomyosarcoma, Embryonal ; diagnosis