ABSTRACT
El rabdomiosarcoma es el tumor maligno de partes blandas más frecuente en la edad pediátrica. Puede afectar cualquier localización anatómica. El subtipo histológico alveolar suele causar lesiones en las extremidades en niños de mayor edad. Los sitios metástasicos más frecuentes son el pulmón, la médula ósea, el hueso y los ganglios linfáticos. Describimos el caso de un paciente con rabdomiosarcoma alveolar (RA) con metástasis cardíaca, una presentación poco frecuente de la patología.
Rhabdomyosarcoma is the most common malignant soft tissue tumor in pediatric age. It can affect any anatomical location. Alveolar histological subtype usually presents lesions on the extremities in older children. The most common metastatic sites are the lung, bone marrow, bone and lymph node. We describe a case of alveolar rhabdomyosarcoma with cardiac metastasis in a pediatric patient, a rare presentation of the pathology.
Subject(s)
Humans , Male , Child , Soft Tissue Neoplasms/pathology , Rhabdomyosarcoma, Alveolar/pathology , Foot Diseases/pathology , Heart Neoplasms/secondary , Rhabdomyosarcoma, Alveolar/diagnosis , Rhabdomyosarcoma, Alveolar/therapy , Ventricular Septum , Foot Diseases/diagnosis , Foot Diseases/drug therapy , Heart Neoplasms/diagnosis , Heart Neoplasms/drug therapy , Neoplasm StagingABSTRACT
Rhabdomyosarcoma (RMS) is a malignant soft tissue tumour occurring most frequently in younger age groups. Study presented a rare case of spindle cell Rhabdomyosarcoma of the upper lip involving the commissure area. In this case report after successful surgical excision, the patient underwent extensive postoperative histopathological studies including special stains and immunohistochemistry. Genotype studies (reverse transcription polymerase chain reaction) were done to help in subtyping and prognostication, and it turned out to be a surprise as it showed positivity for PAX3-FOXO1 t (2;13) translocation which is almost exclusively seen with alveolar RMS. After that he successfully underwent chemotherapy and radiotherapy as it was an aggressive variant and has been disease free for the past 2 years. The author hopes that this case report will highlight the importance of high clinical suspicion in head and neck masses presenting in pediatric age group and to not rely solely on biopsy reports to confirm diagnosis, so that early detection will lead to successful therapy and outcome as exemplified in this case.
ABSTRACT
Objective: To investigate the effect of microRNA-9-5p (miR-9-5p) targeting the myocyte enhancer factor 2C (MKF2C) on the biologicals behaviors of the alveolar rhabdomyosarcoma (ARMS) cells, and to provide the basis for the molecular diagnosis and targeted therapy of ARMS. Methods: The expression levels of miR-9-5p and MKF2C mRNA in ARMS tissue and cells were detected by qRT-PCR method' the proliferation rate of cells was detected by CCK-8 method, the apoptotic rate was detected by flow cytometry, the numbers of invasion and migration cells were detected by Transwell chamber assay, the luciferase activity in 293T cells was detected by double luciferase reporter gene, and the expression level of MEF2C protein in the cells was detected by Western blotting method. Results: The expression levels of miR-9-5p in ARMS tissue and cells were higher than those in normal skeletal muscle tissue and HSKMC cells ( P
ABSTRACT
@#Introduction: Alveolar rhabdomyosarcoma (RMS) usually occurs in adolescents and young adults, and most frequently arises in the extremities. Case Report: We present a rare case of metastatic alveolar RMS from a nasal primary to cervical lymph nodes (LNs) in an elderly patient, diagnosed on the fine-needle aspiration (FNA) biopsy. Smears showed malignant round cells featuring focal rhabdoid appearance, with rhabdomyoblastic differentiation further supported by immunocytochemical stains. Diagnosis of alveolar RMS was confirmed by fluorescence in situ hybridization (FISH) identifying FOXO1 gene involvement with dual colour break-apart probes at locus 13q14. Discussion: The differential diagnosis for a small round blue cell tumour in the elderly generally includes metastatic small cell carcinoma, lymphoma, malignant melanoma, RMS, desmoplastic small round cell tumour and Ewing’s sarcoma/primitive neuroectodermal tumour. Subtle morphological analysis and expression pattern of immunostaining for skeletal muscle differentiation led to the diagnosis of RMS. Cytogenetic testing on the FOXO1 gene rearrangement helps definite subtyping of alveolar RMS.
ABSTRACT
Abstract: We present the case of a 2-year-old male patient with a facial tumor partially treated with chemotherapy before his admission to our institution. The tumor involved from the frontal region to the maxillary floor, the orbit, and the maxillary and sphenoid sinuses. The histopathological diagnosis revealed a stage IV alveolar rhabdomyosarcoma with infiltration to bone marrow and cerebrospinal fluid. He was managed with four cycles of adriamycin, actinomycin, cyclophosphamide and vincristine; cisplatin and irinotecan were added to the last cycle. The tumor had a 50% size reduction, but the patient died after a neutropenia and fever episode. The aggressive behavior of alveolar rhabdomyosarcoma has been associated with the expression of oncogenic fusion proteins resulting from chromosomal translocations, particularly t(2;13) (q35;q14) PAX3/FOXO1, and t(1;13) (p36;q14) PAX7/FOXO1 which were present in this patient.
Resumen: Se presenta el caso de un niño de dos años de edad con un tumor facial tratado parcialmente con quimioterapia anterior a su admisión en este hospital. El tumor abarcaba desde la región frontal hasta el piso maxilar, la órbita y los senos esfenoidales y maxilares. El diagnóstico histopatológico reveló un rabdomiosarcoma alveolar estadio IV con infiltración a la médula ósea y fluido cerebroespinal. El paciente fue tratado con cuatro ciclos de adriamicina, actinomicina, ciclofosfamida y vincristina; al último ciclo se añadieron cisplatino e irinotecan. El tumor se redujo en 50% de su tamaño, pero el paciente murió tras un episodio febril y neutropénico. La agresividad del rabdomiosarcoma alveolar se ha asociado con la expresión de proteínas oncogénicas de fusión provenientes de translocaciones cromosomales, particularmente t(2;13) (q35;q14) PAX3/FOXO1 y t(1;13) (p36;q14) PAX7/FOXO1, presentes en este paciente.
ABSTRACT
Rhabdomyosarcoma (RMS) is a high‑grade sarcoma that predominantly affects children, and rarely, the adult population. RMS demonstrates three major histologic variants: Embryonal, alveolar, and pleomorphic. A limited number of documented pure RMS cases of the gynecologic organs in adult women are found in the literature. Of these reports, the fallopian tube (FT) is reported as the primary site in only three cases, those included one of embryonal and two of the pleomorphic histologic variants. Herein, we report the first case of alveolar RMS arising in the FT of an adult woman and presenting as a unilateral adnexal mass.
ABSTRACT
Rhabdomyosarcomas (RMS) are aggressive malignant neoplasm of mesenchymal origin, related to skeletal muscle lineage. These are the most common soft tissue tumors in children. The diagnosis is made by microscopic analysis and ancillary techniques like immunohistochemistry, electron microscopy, cytogenetics and molecular biology. We encountered a case of a 03 years old child who presented with a tender, reddish, soft swelling over cheek for three weeks. The FNAC was reported as a small round cell tumor, Probably Primitive Neuroectodermal Tumor (PNET). The biopsy of tumor revealed a small round cell tumor with an alveolar pattern. Tumor giant cells were absent and mitotic figures were infrequent. Hence, differentials of alveolar rhabdomyosarcoma and PNET were rendered. Immunohistochemistry (IHC) demonstrated desmin positivity. Thus, a final diagnosis of alveolar rhabdomyosarcoma was offered.
ABSTRACT
El rabdomiosarcoma (RMS) es considerado el sarcoma infantil más frecuente, y se origina a partir de células precursoras mesenquimatosas embrionarias del músculo estriado. El compromiso cutáneo se da por metástasis o por invasión local y es poco frecuente. El 41% de los RMS en los niños se localiza en cabeza y cuello, y las formas embrionaria y alveolar son las variantes más frecuentes. Presentamos un caso de RMS nasal de rápido crecimiento variante alveolar de patrón sólido, debido a la presentación en edad temprana para esta variante (AU)
Rhabdomyosarcoma (RMS) is one of the most common pediatric sarcoma, originated of the mesenquimal embryonal smooth muscle precursor cells.This tumor is unusual, when it involves the skin is by metastasis or local invasion. 41% of the pediatric RMS occurs in the head and neck.The alveolar and embryonal forms are the most common variants.We report a case of RMS alveolar form of solid pattern with rapid growth on nasal area (AU)
Subject(s)
Humans , Male , Infant , Rhabdomyosarcoma, Alveolar , Nasal CavityABSTRACT
Rhabdomyosarcoma is a malignant tumor of mesenchymal origin. It is the most common soft tissue sarcoma of childhood and approximately 250 new cases are diagnosed in the U.S. each year. The most common sites for rhabdomyosarcoma are the head and neck (parameningeal, orbit, paryngeal etc.), the extremities, and the genitourinary tract. Histologically, it can be classified into embryonal, alveolar, pleomorphic, and undifferentiated. Alveolar subtype accounts for approximately 25%. Alveolar rhabdomyosarcoma is very rare and its prognosis is very poor. Especially, cases that reported from vulva are extremely rare, and informations regarding treatment and prognosis are not standardized. We present a case of a girl with alveolar rhabdomyosarcoma of vulva with a review of a literature.
Subject(s)
Female , Humans , Extremities , Head , Neck , Orbit , Prognosis , Rhabdomyosarcoma , Rhabdomyosarcoma, Alveolar , Sarcoma , VulvaABSTRACT
Fine-needle aspiration cytology(FNAC) has been used extensively in the diagnosis of metastatic malignancies. However, metastatic soft tissue sarcomas are often overlooked, primarily due to the low frequency with which they occur. Here, we report a rare case of metastatic rhabdomyosarcoma in both cervical lymph nodes, which was detected by FNAC. A 45-year-old woman presented with anosmia, postnasal drip, and sneezing, symptoms which had persisted for 1 month. The patient was found to have a tumorous lesion at the upper portion of the mid-turbinate, with multiple enlarged cervical lymph nodes, and this lesion was examined closely at our facility. FNA cytology smears obtained from both cervical lymph nodes revealed a high degree of cellularity, and displayed cohesive clusters with gland-like spaces, as well as single isolated cells with abundant karyorrhectic debris. The tumor cells exhibited round to oval nuclei containing fine chromatin, occasional small nucleoli, and scanty cytoplasm, or a total lack of cytoplasm. Some of the tumor cells were arranged in multinucleated forms and abundant dense eosinophilic cytoplasms, reminiscent of a rhabdomyoblast. The histological findings of the lymph nodes revealed an outstanding sinusoidal infiltration and a prominent alveolar growth pattern, interspersed with occasional typical rhabdomyoblasts. The immunohistochemical results [desmin(+), myoglobin(+), myogenin (+), pan CK(-), synaptophysin(-), neuron specific enolase(-)] supported a confirmative diagnosis of alveolar rhabdomyosarcoma. Alveolar rhabdomyosarcoma is a representative sarcoma, which typically manifests with nodal metastasis and carcinoma-like clustering. The cytopathologist should remain alert upon encountering unusual morphology, so that the possibility of this condition, although somewhat remote, should not be dismissed or overlooked.