Animals ; Brachytherapy ; Combined Modality Therapy ; Humans ; Male ; Prognosis ; Rhabdomyosarcoma ; Rhabdomyosarcoma, Alveolar/drug therapy*

This paper reported a case of cervical intraspinal metastasis of alveolar rhabdomyosarcoma (ARMS). The clinicopathological features, surgical treatment, chemotherapy and prognosis were introduced and the current literature was reviewed. The diagnosis, differential diagnosis, treatment, molecular features and prognosis of the disease were comprehensively analyzed to improve clinicians' knowledge of this rare disease. The primary lesion appeared about 1 year ago which was painless mass of left hand whose size was about 2 cm×2 cm. After conservative treatment, the mass gradually enlarged and the mass was resected. Postoperative pathology revealed embryonic rhabdomyosarcoma. Postoperative chemotherapy with recombinant human endostatin, liposomal doxorubicin and ifosfamide was performed. The left neck mass was found about 3 months ago, and then the left neck mass was resected under general anesthesia. Postoperative pathological examination showed small round cell malignant tumors. Severe left upper extremity pain began about 2 weeks ago with nocturnal pain and supine pain. Non-steroidal anti-inflammatory drugs were needed to relieve pain which was accompanied by numbness and weakness of the left upper extremity. MRI showed a intraspinal tumor at C5. The left thumb and index finger were absent. Hypoesthesia, muscle atrophy and hypotonia of the left upper limb were confirmed. The muscle strength of biceps brachii and deltoid muscle of the left upper limb was grade 0, the muscle strength of extensor carpus and interphalangeal muscle was grade II, the muscle strength of intrinsic muscles of hands was grade I. The tendon reflex of the left upper limb disappeared. Intraspinal mass was removed and the pain was relieved. But there was no significant change in the muscle strength of the left upper limb. Pathological examination revealed small cell malignancies which were poorly differentiated with diffuse patchy distribution and disordered arrangement. The tumor cells had round, oval or irregular nuclei, and few cytoplasms were positive for Myogenin and MyoD1. FISH test of FOXO1 gene was positive. More than 50% of nuclei showed redgreen signal separation, and the distance between redgreen signals was larger than double diameter of the signal points, which supported ARMS. Total resection of intraspinal tumors was achieved and postoperative chemotherapy was admitted. But intraspinal disseminated metastasis occurred rapidly. ARMS was rare, aggressive tumor with poor prognosis. Subdural metastasis was rare. Correct diagnosis and classification can be made only with help of modern molecular diagnostic methods, which is effective to guide the treatment.
Humans ; Ifosfamide ; Muscle, Skeletal ; Myogenin ; Prognosis ; Rhabdomyosarcoma, Alveolar ; Spinal Neoplasms

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

It is uncommon for pediatric patients with rhabdomyosarcoma to present with clinical and/or laboratory features of disseminated intravascular coagulation (DIC). We report a case of metastatic alveolar rhabdomyosarcoma with severe bleeding because of DIC in a 13-year-old boy. He experienced persistent oozing at the site of a previous operation, gross hematuria, and massive epistaxis. Two weeks after initiating combination chemotherapy consisting of vincristine, doxorubicin, and cyclophosphamide, the patients' laboratory indications of DIC began to resolve. During this period, the patient received massive blood transfusion of a total of 311 units (26 units of red blood cells, 26 units of fresh frozen plasma, 74 units of platelet concentrates, 17 units of single donor platelets, and 168 units of cryoprecipitate), antithrombin-III and a synthetic protease inhibitor. Despite chemotherapy and radiation therapy, he died 1 year later because of disease progression. In children with metastatic rhabdomyosarcoma and massive DIC, prompt chemotherapy and aggressive supportive care is important to decrease malignancy-triggered procoagulant activities.
Adolescent ; Blood Platelets ; Blood Transfusion ; Child ; Cyclophosphamide ; Dacarbazine ; Disease Progression ; Disseminated Intravascular Coagulation ; Doxorubicin ; Drug Therapy* ; Drug Therapy, Combination ; Epistaxis ; Erythrocytes ; Hematuria ; Hemorrhage ; Humans ; Male ; Plasma ; Protease Inhibitors ; Rhabdomyosarcoma ; Rhabdomyosarcoma, Alveolar* ; Tissue Donors ; Vincristine

No abstract available.
Adult* ; Humans ; Lip* ; Rhabdomyosarcoma, Alveolar*

Primary tumors of the lung are uncommon in pediatric patients, particularly bronchioloalveolar carcinoma (BAC). An 11-year-old female suffering from back pain for 1 month was referred to Seoul St. Mary's Hospital for treatment of a pathologic fracture of the lumbar spine. Comprehensive evaluation disclosed numerous pulmonary metastases of rhabdomyosarcoma (stage IV). During chemotherapy, most of the lung lesions regressed, with the exception of two nodules. Wedge resections, intended for diagnosis and cure, yielded a histologic diagnosis of BAC.
Adenocarcinoma, Bronchiolo-Alveolar* ; Back Pain ; Child ; Diagnosis ; Drug Therapy ; Female ; Fractures, Spontaneous ; Humans ; Lung ; Lung Neoplasms ; Neoplasm Metastasis ; Rhabdomyosarcoma ; Seoul ; Spine

OBJECTIVEAlbeit rare, rhabdomyosarcoma (RMS) may occur in middle to old-aged adults. The purpose of this study was to investigate the clinicopathological characteristics and prognosis of RMS in patients ≥ 40 years of age.

METHODSThe clinical, pathological and immunohistochemical profiles of the 76 cases were reviewed, and the outcomes were analyzed.

RESULTSThere were 46 males and 30 females with a median age of 55 years. Sixty cases occurred in somatic soft tissues, including extremities (n = 25), head and neck (n = 19) and trunk (n = 16). Sixteen developed in the internal organs with predilection for the urogenital tract. Histologically, 38 cases (50.0%) were of embryonal RMS (ERMS) subtype, 29 cases (38.2%) of pleomorphic RMS (PRMS), 7 cases (9.2%) of poorly-differentiated RMS (PdRMS), and 2 cases (2.6%) of alveolar RMS (ARMS). Immunohistiochemically, the tumor cells showed diffuse staining of desmin (68/68, 100%), with a variable expression of myogenin (30/43, 69.8%), MyoD1 (33/51, 64.7%) and MSA (29/40, 72.5%). The therapy data available in 54 cases showed that three inoperable cases were treated with chemotherapy and radiotherapy, 51 cases underwent local excision, including 10 cases with chemotherapy, 9 cases with radiotherapy, 8 cases with chemotherapy and radiotherapy after surgery, and the remaining 24 cases were not administrered with postoperative adjuvant therapy. The follow-up data available in 54 cases showed that 22 patients were alive with unresectable or recurrent/disease and 32 patients were alive with no evidence of disease. The median disease-free and overall survivals were 6.0 months and 7.0 months, respectively. Twenty-seven patients exhibited progression of disease with recurrence in 8 cases and metastasis in 19 cases. The median interval to progression was 6.0 months.

CONCLUSIONSThe most common subtypes of RMS in middle to old aged patients are ERMS and PRMS. In general, Rhabdomyosarcomas of middle to old aged patients shows a highly aggressive behavior. Patients may benefit from multi-disciplinary therapy.

Adult ; Aged ; Aged, 80 and over ; Chemotherapy, Adjuvant ; Desmin ; metabolism ; Disease-Free Survival ; Extremities ; Female ; Follow-Up Studies ; Head and Neck Neoplasms ; drug therapy ; metabolism ; pathology ; radiotherapy ; surgery ; Humans ; Male ; Middle Aged ; MyoD Protein ; metabolism ; Myogenin ; metabolism ; Neoplasm Recurrence, Local ; Radiotherapy, Adjuvant ; Rhabdomyosarcoma ; drug therapy ; metabolism ; pathology ; radiotherapy ; surgery ; Rhabdomyosarcoma, Alveolar ; drug therapy ; metabolism ; pathology ; radiotherapy ; surgery ; Rhabdomyosarcoma, Embryonal ; drug therapy ; metabolism ; pathology ; radiotherapy ; surgery ; Soft Tissue Neoplasms ; drug therapy ; metabolism ; pathology ; radiotherapy ; surgery ; Survival Rate

Adenocarcinoma ; metabolism ; pathology ; Adult ; Desmin ; metabolism ; Diagnosis, Differential ; Humans ; Lung Neoplasms ; secondary ; Lymphatic Metastasis ; Male ; Melanoma ; metabolism ; pathology ; Rhabdomyosarcoma, Alveolar ; metabolism ; pathology ; surgery ; Sarcoma, Alveolar Soft Part ; metabolism ; pathology ; Testicular Neoplasms ; metabolism ; pathology ; surgery ; Testis ; metabolism ; pathology

Rhabdomyosarcomas are soft tissue sarcomas; while extremely rare in adults, they are one of the most common neoplasms in children and adolescents. Histologically, they can be classified into embryonal(ERMS), alveolar(ARMS), pleomorphic, and undifferentiated types. The ARMS type is very rare, and is associated with a poor prognosis. Common primary sites of ARMS are the trunk and extremities. We report on a case of paraaortic, supraclavicular, and axillary lymph node metastasis from paratesticular ARMS treated with VAC(vincristine, dactinomycin, cyclophosphamide)/ IE(ifosfamide, etoposide) chemotherapy in a young adult. Administration of six cycles of chemotherapy with VAC/ IE resulted in complete remission. The patient has maintained complete remission over the past 27 months.
Adolescent ; Adult ; Arm ; Child ; Dactinomycin ; Extremities ; Humans ; Lymph Nodes ; Lymphatic Metastasis ; Neoplasm Metastasis ; Prognosis ; Rhabdomyosarcoma ; Rhabdomyosarcoma, Alveolar ; Young Adult

Cell Line, Tumor ; Chromosome Aberrations ; Comparative Genomic Hybridization ; methods ; Gene Amplification ; Gene Dosage ; Gene Expression ; Humans ; Receptor, Fibroblast Growth Factor, Type 1 ; genetics ; metabolism ; Rhabdomyosarcoma ; genetics ; metabolism ; pathology ; Rhabdomyosarcoma, Alveolar ; genetics ; metabolism ; pathology ; Rhabdomyosarcoma, Embryonal ; genetics ; metabolism ; pathology