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

BACKGROUND: To investigate the clinicopathological characteristics of urinary bladder tumors, a rare malignancy, in patients 20 years or younger. METHODS: Using a retrospective chart review among patients who received bladder surgery at 2 institutions between July 1996 and January 2013, we analyzed the clinicopathological characteristics of urinary bladder tumors in 21 pediatric patients (male:female = 4.25:1.00; mean age, 12.1 years). RESULTS: Pathology revealed 9 urothelial tumors, 6 rhabdomyosarcomas, 1 low-grade leiomyosarcoma, 1 large cell neuroendocrine carcinoma, 1 inflammatory myofibroblastic tumor, and 3 cases of chronic inflammation without tumors (including 1 xanthogranulomatous inflammation). Urothelial tumors (mean patient age, 16.0 years) were benign or low-grade; and only transurethral resection of the bladder tumor was necessary for treatment. Patients with rhabdomyosarcomas (mean age, 5 years) underwent radiotherapy (if unresectable) or transurethral resection of the bladder tumor (if resectable), after chemotherapy. Of these patients, 2 underwent radical cystectomy, with the remaining patients not receiving a cystectomy. With the exception of one patient, all patients are currently alive and recurrence-free. CONCLUSION: Urothelial tumors were the most commonly found pediatric bladder tumor, with embryonal rhabdomyosarcoma being the second most common. Urothelial tumors are common in relatively older age. Since urothelial tumors in children typically have a good prognosis and rarely recur, transurethral resection of the bladder tumor is the treatment of choice. Rhabdomyosarcomas are common in younger patients. Since rhabdomyosarcoma is generally chemosensitive, chemotherapy and radiotherapy are the treatment of choice for bladder preservation in these patients.
Carcinoma, Neuroendocrine ; Child ; Cystectomy ; Drug Therapy ; Humans ; Inflammation ; Leiomyosarcoma ; Myofibroblasts ; Pathology ; Prognosis ; Radiotherapy ; Retrospective Studies ; Rhabdomyosarcoma ; Rhabdomyosarcoma, Embryonal ; Urinary Bladder Neoplasms ; Urinary Bladder*

No abstract available.
Radiotherapy* ; Retinoblastoma* ; Rhabdomyosarcoma*

Rhabdomyosarcoma is an uncommon type of soft tissue malignant neoplasm characterized by undifferentiated mesodermal tissue. Sarcomas account for approximately 1% of all laryngeal neoplasm and rhabdomyosarcomas are the rarest sarcoma found in the larynx. When the sarcoma involves the larynx, radical surgery such as laryngectomy has been considered. With recent advances of combined therapy, however, it can be treated by conservative surgeries followed by postoperative radiotherapy and/or pulse chemotherapy. With reviews of literature, we report a 47-year-old patient complaining of husky voice and throat discomfort who was finally diagnosed as rhabdomyosarcoma of the vocal fold and successfully treated by laser cordectomy followed by adjuvant chemoradiotherapy.
Chemoradiotherapy, Adjuvant ; Drug Therapy ; Humans ; Laryngeal Neoplasms ; Laryngectomy ; Larynx ; Mesoderm ; Middle Aged ; Pharynx ; Radiotherapy ; Rhabdomyosarcoma* ; Sarcoma ; Vocal Cords* ; Voice

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

A 52-year-old man was presented with a huge left testicular mass and palpable cervical lymphadenopathy with retroperitoneal lymph node enlargement on an abdominal computed tomography. A left radical orchiectomy and an ultrasound-guided neck node biopsy were performed. A pathological examination revealed spermatocytic seminoma with extensive rhabdomyosarcomatous transformation, a condition known to be highly resistant to platinum-based chemotherapy. The patient received four cycles of etoposide, ifosfamide and cisplatin (VIP) chemotherapy. A repeat computed tomography revealed a substantial regression consistent with a partial response. Retroperitoneal lymph node dissection was attempted, which revealed rhabdomyosarcoma; however, complete microscopic resection was not achieved. After surgery, the residual abdominal lymph node progressed and salvage paclitaxel, ifosfamide and cisplatin (TIP) chemotherapy was employed, which again achieved a partial response. Here, we present a first case report of a spermatocytic seminoma with extensive rhabdomyosarcomatous transformation and multiple metastatic lymphadenopathies that showed a favorable response to platinum-based systemic chemotherapy.
Biopsy ; Cisplatin ; Drug Therapy ; Drug Therapy, Combination* ; Etoposide ; Humans ; Ifosfamide ; Lymph Node Excision ; Lymph Nodes ; Lymphatic Diseases ; Middle Aged ; Neck ; Orchiectomy ; Paclitaxel ; Radiotherapy ; Rhabdomyosarcoma ; Seminoma*

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

Radiation-induced spinal cord gliomas are extremely rare. Since the first case was reported in 1980, only six additional cases have been reported.; The radiation-induced gliomas were related to the treatment of Hodgkin's lymphoma, thyroid cancer, and medullomyoblastoma, and to multiple chest fluoroscopic examinations in pulmonary tuberculosis patient. We report a case of radiation-induced spinal cord glioblastoma developed in a 17-year-old girl after a 13-year latency period following radiotherapy for nasopharyngeal rhabdomyosarcoma. MRI findings of our case are described.
Contrast Media/diagnostic use ; Female ; Gadolinium DTPA/diagnostic use ; Glioblastoma/*diagnosis/pathology/surgery ; Humans ; *Magnetic Resonance Imaging ; Nasopharyngeal Neoplasms/*radiotherapy ; Neoplasms, Radiation-Induced/*diagnosis/pathology ; Rhabdomyosarcoma/*radiotherapy ; Spinal Cord Neoplasms/*diagnosis/pathology/surgery

OBJECTIVETo study the efficacy and safety of 125I particle implantation in the treatment of rhabdomysarcoma (RMS) of the head and neck in children.

METHODSEight children (four males and four females) with RMS of the head and neck received 125I particle implantation targeted to the primary lesion area. The primary lesions were noted in eyelids or eyes in two children, in the orbit in four children, and in the nasal cavity or nasal wing in two children. Treatment outcomes and side effects were observed.

RESULTSThe follow-up visits averaged 45±17 months (median 43 months) in the eight children receiving 125I particle implantation. Five children achieved a complete remission, 2 children achieved a complete remission and 1 child died. The total survival rate was 88% in the 8 children. Local pigmentation was observed in all eight children (100%). Nubecula (one case), eyeball pain (one case), serious blurred vision (one case), cornea ulcer and blindness (one case) and bleeding of the nasal cavity (one case) were also observed. Except for nubecula and blindness, these side effects were improved by symptomatic treatment.

CONCLUSIONS125I particle implantation appears to be effective in the treatment of RMS of the head and neck in children. Most treatment-related side effects can be improved by symptomatic treatment.

Adolescent ; Brachytherapy ; adverse effects ; Child ; Child, Preschool ; Female ; Head and Neck Neoplasms ; radiotherapy ; Humans ; Iodine Radioisotopes ; adverse effects ; therapeutic use ; Male ; Rhabdomyosarcoma ; radiotherapy ; Tomography, X-Ray Computed

Carcinoma ; drug therapy ; genetics ; metabolism ; pathology ; radiotherapy ; Desmoplastic Small Round Cell Tumor ; metabolism ; pathology ; Diagnosis, Differential ; Gene Rearrangement ; Head and Neck Neoplasms ; drug therapy ; genetics ; metabolism ; radiotherapy ; Humans ; Keratin-20 ; metabolism ; Keratin-7 ; metabolism ; Lymphatic Metastasis ; Male ; Mediastinal Neoplasms ; drug therapy ; genetics ; metabolism ; radiotherapy ; Melanoma ; metabolism ; pathology ; Neuroectodermal Tumors, Primitive ; metabolism ; pathology ; Nuclear Proteins ; genetics ; metabolism ; Oncogene Proteins ; genetics ; metabolism ; Oncogene Proteins, Fusion ; genetics ; metabolism ; Rhabdomyosarcoma ; metabolism ; pathology ; Thymus Neoplasms ; drug therapy ; genetics ; metabolism ; radiotherapy