Rabdomiosarcoma del ala nasal en un paciente pediátrico. Un reporte de caso / Nasal ala Alveolar Rhabdomyosarcoma in a pediatric patient. A rare case report

Dada la respiración nasal preferencial que tiene la población pediátrica en los primeros meses de vida, la obstrucción nasal tiene más repercusiones a nivel clínico a diferencia de un adulto, lo cual hace más prioritario su diagnóstico y manejo. Una de las principales causas de obstrucción nasal en niños son las masas nasales, las cuales debido a sus múltiples etiologías causan bastante incertidumbre diagnóstica en el equipo médico. En este artículo se presenta el caso de una paciente de 10 meses con una masa en el ala nasal de crecimiento rápido; se realiza un rápido diagnóstico de rabdomiosarcoma que requiere un adecuado manejo. El rabdomiosarcoma con patrón alveolar se presenta de forma inusual en esta ubicación, es por esto por lo que se considera importante presentar este caso para mantenerlo en el algoritmo diagnóstico como una posibilidad y que, así como en el caso presentado, se pueda tener un diagnóstico temprano, un tratamiento adecuado y un resultado estético y funcional favorable.

Given preferential nasal breathing in the first months of life in the pediatric population, nasal obstruction has more clinical repercussions than it would have in adults, hence the need to give higher priority to its diagnosis and management. One of the main causes of nasal obstruction in children is the presence of nasal masses, which cause considerable diagnostic uncertainty in the medical team, because of their multiple etiologies. In this article, the case of a 10-month-old patient with a rapidly growing mass in the nasal ala is presented. A rhabdomyosarcoma was promptly diagnosed and adequately managed. Rhabdomyosarcoma with an alveolar pattern occurs in an unusual way in this location; for this reason, this case is important in order to include this possibility in the diagnostic algorithm and, as was the case in this patient, reach an early diagnosis and institute adequate treatment resulting in favorable aesthetic and functional results.

Rabdomiosarcoma alveolar con metástasis cardíaca en un paciente pediátrico / Alveolar rhabdomyosarcoma with cardiac metastasis in a pediatric patient

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.

Intraspinal metastasis of alveolar rhabdomyosarcoma: A case report / 北京大学学报(医学版)

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.

Cytologic Diagnosis of Metastatic Alveolar Rhabdomyosarcoma in Cerebrospinal Fluid: A Case Report

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.

Alveolar rhabdomyosarcoma with massive disseminated intravascular coagulopathy treated with systemic chemotherapy / 소아과

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.

Alveolar Rhabdomyosarcoma of the Lip in an Adult with Clear Cell Features

No abstract available.

Rabdomiosarcoma alveolar metastásico a mama en adolescente: a propósito de un caso / Metastasic alveolar rabdomiosarcoma in breast of adolescent patient: a case report

La afección metastásica de la mama de una neoplasia extra mamaria maligna es un hecho infrecuente y constituye aproximadamente el 1,7% de todos los procesos malignos de la mama. Por otra parte, los sarcomas de tejidos blandos constituyen tan solo el 0,7% de todos los tumores malignos del organismo, por lo que es un hecho infrecuente encontrar en la mama una metástasis procedente de un sarcoma de partes blandas extra mamario, Se hace la referencia de un caso visto en el Hospital Coromoto de Maracaibo, paciente de 14 años con rabdomiosarcoma metastásico en mama izquierda, sin evidencia de enfermedad generalizada a quien se le practica mastectomía radical modificada, radioterapia y quimioterapia dándole así el tratamiento adecuado para este tipo de tumor

The condition of metastatic breast extra mammary malignant neoplasm is rare event and is about of 1.7% of all malignancies of the breast. On the other hand the soft tissue sarcomas constitute only 0.7% of incidence in relation to the all malignant tumors in the body, making it a rare event found in the breast, found metastasis from an extra mammary soft tissue sarcoma, reference is made a case view and treated in the Coromoto Hospital in Maracaibo city, is a patient 14 years old with metastatic rhabdomyosarcoma in the left breast with no evidence of widespread disease, who underwent modified radical mastectomy, giving chemotherapy and radiation therapy after surgery how a appropriate form of treatment for these kind of tumors

Superação: uma partilha de vida / Overcoming: a sharing of life

O artigo relata depoimento de mãe com filho dignosticado com Rabdomios sarcoma Alveolar. Sua superação diante desse desafio

The article reports mother's testimony with son dignosticado with Alveolar Rhabdomyo sarcoma. On overcoming this challenge

Rhabdomyosarcoma in middle to old-aged patients: analysis of clinicopathological features and prognosis in 76 cases / 中华肿瘤杂志

<p><b>OBJECTIVE</b>Albeit 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.</p><p><b>METHODS</b>The clinical, pathological and immunohistochemical profiles of the 76 cases were reviewed, and the outcomes were analyzed.</p><p><b>RESULTS</b>There 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.</p><p><b>CONCLUSIONS</b>The 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.</p>

Rabdomiossarcoma alveolar cutâneo primário em paciente pediátrico / Primary cutaneous alveolar rhabdomyosarcoma in a pediatric patient

O rabdomiossarcoma é o tumor de partes moles mais comum na infância, sendo raro o acometimento exclusivamente cutâneo. Apresenta-se caso de criança com nódulo doloroso na face, cuja análise histopatológica e imunoistoquímica confirmou tratar-se de rabdomiossarcoma, o qual foi conduzido por equipe multidisciplinar. Os tumores de partes moles são responsáveis por 6 por cento de todos os tumores infantis; destes, 53 por cento são rabdomiossarcomas, que podem acometer qualquer sítio. A manifestação como nódulo dérmico é incomum, representando um desafio diagnóstico, já que não possui características clínicas que o diferenciem de outras patologias.

Rhabdomyosarcoma is the most common soft tissue tumor in childhood; however, it rarely affects only the skin. This case report describes a child with a painful nodule on her face. Histopathology and immunohistochemistry confirmed the diagnosis of rhabdomyosarcoma, and a multidisciplinary team then followed up the patient. Soft tissue tumors are responsible for 6 percent of all childhood tumors, and 53 percent of these are rhabdomyosarcomas, which may affect any part of the body. Presentation in the form of skin nodules is rare and represents a diagnostic challenge, since there are no clinical characteristics that differentiate this condition from other pathologies.

Paratesticular Alveolar Rhabdomyosarcoma with Multiple Lymph Nodes Metastasis Successfully Treated with Chemotherapy / 영남의대학술지

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.

Fascioscapulohumeral dystrophy

Two Filipino sisters from Capiz presented with facial muscle weakness followed by weakness of both shoulders and arms, and scapular winging. Both presented with difficulty in performing activities of daily living. The younger sister also had bilateral lower extremity weakness with difficulty in ambulation. The results of electrodiagnostic testing in both sisters were compatible with myopathic disease. Comprehensive individualized rehabilitation addressing different functional limitations, focusing on maintaining mobility and functional capacity, and resulting improvements are presented.

Profile of chromosomal imbalances in 10 cases of primary alveolar rhabdomyosarcoma analyzed by comparative genomic hybridization / 中华肿瘤杂志

<p><b>OBJECTIVE</b>The aim of this study was to characterize the profile of chromosomal imbalances of alveolar rhabdomyosarcoma (ARMS).</p><p><b>METHODS</b>One-step RT-PCR was used to detect the expression of PAX3-FKHR and PAX7-FKHR fusion transcripts in 10 cases of alveolar rhabdomyosarcoma and in an ARMS cell line. Comparative genomic hybridization (CGH) was used to investigate the genomic imbalances in these cases. It was analyzed according to the histological type, pathologic grading, clinical staging, gender and age, respectively.</p><p><b>RESULTS</b>The 10 patients with alveolar rhabdomyosarcoma showed evidence of increased or decreased DNA sequence copy numbers involving one or more regions of the genome. (1) The frequently gained chromosome arms of ARMS were 12q, 2p, 6p, 6q, 10q, 2q, 4q, 15q, 1p, 9q, 14q and 18q (> or = 30.0%), and the frequently lost chromosome arms of ARMS were 3p, 6p, 20q and 21q (> 30.0%). (2) The frequently gained chromosome arm translocation associated with ARMS were 12q, 10q, 2p, 2q, 6p, 6q, 1p, 4q, 8q, 11q, 14q and 15q (> 30.0%). The frequently lost chromosome arms were 3p, 5q, 6p, 1q, 8p, 11p, 20q and 21q (> 30.0%). (3) There were no correlation between chromosome changes and histological type, pathologic grade, clinical stage, gender and age, respectively.</p><p><b>CONCLUSION</b>These observations suggest that: (1) 12q, 2p, 6p, 6q, 10q, 2q, 4q, 15q, 1p, 9q, 14q, 18q gain and 3p, 6p, 20q, 21q loss may correlated with ARMS-related carcinogenesis; (2) 12q gain may be correlated with translocation.</p>

A case of alveolar rhabdomyosarcoma of the uterine cervix / 대한산부인과학회지

Uterine rhadomyosarcoma (RMS) is a rare tumor accounting for 2~6% of the patients with uterine malignant neoplasm and it happens under 1% of the patients with genitourinary malignancies. RMS can be classified in four types; embryonal, alveolar, pleomorphic, and undifferenciated. About twenty percent of RMS occurs in the genitourinary tract, with sligtly more than half being embryonal rhadomyosarcoma. Alveolar rhabdomyosarcoma (ARMS) of the uterine cervix is very rare. Emerich et al. reported the first case of ARMS of the cervix in 1996. So, little information is available regarding its prognosis and therapy. We report a case of a 56 year-old woman with ARMS of the uterine cervix with a review of the literature. She was received the operation and radiotherapy. She has since been disease-free. We herein report a case of very rare ARMS of the cervix.

Rabdomiosarcoma cardiaco / Cardiac rhabdomyosarcoma

Se presenta un caso de una paciente con un tumor maligno cardiaco que es una patología muy infrecuente. Al ingreso tenía 10 años de edad, fue referida por historia de un mes de dolor en epigastrio, que irradiaba al resto del abdomen y asociaba disnea progresiva de esfuerzos. Además tenía cardiomegalia, masa y derrame pericárdico. El diagnóstico histológico reportó rabdomiosarcoma de ventrículo derecho tipo alveolar. Se logró una resección completa y se dio quimioterapia. Presentó una recaída tardía que se trató con segunda línea de quimioterapia y radioterapia con lo que se logró una respuesta parcial y posteriormente presentó progresión de la enfermedad

Rabdomiosarcoma alveolar de patrón sólido nasal, a propósito de un caso / Pattern alveolar rhabdomyosarcoma nasal solid, on the subject of a case

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)

A case of rhabdomyosarcoma masquerading as acute leukemia at presentation: a case report.

Non-hematopoietic malignancies infiltrating bone marrow have always been a source of erroneous diagnosis. Among these, the small round cell tumors like neuroblastomas and rhabdomyosarcomas mimick the hematopoietic blasts. Several case reports of rhabdomyosarcoma mimicking acute leukemia, clinically and morphologically at presentation have been reported in the literature. To the best of our knowledge such an entity has not been reported in Indian literature. We report here one such case of alveolar rhabdomyosarcoma masquerading as acute leukemia. A thorough clinical examination with high degree of suspicion on bone marrow morphology and judicious use of appropriate immunohistochemistry markers will solve many of these cases.

Sclerosing rhabdomyosarcoma: a clinicopathologic study of four cases with review of literature / 中华病理学杂志

<p><b>OBJECTIVE</b>To study the clinicopathologic characteristics of sclerosing rhabdomyosarcoma (SRMS) and its distinction from embryonal rhabdomyosarcoma (ERMS) and alveolar rhabdomyosarcoma (ARMS).</p><p><b>METHODS</b>The clinical, histologic and immunohistochemical features of 4 cases of SRMS were studied. The literature was reviewed.</p><p><b>RESULTS</b>All the 4 cases occurred in adults. The age of patients ranged from 20 to 54 years (mean = 41.5 years). The male-to-female ratio was 1:1. The tumor was located in the left wrist, right thigh, right face and right cheek respectively and the tumor size varied from 2.5 cm to 10 cm in dimension (mean = 5.7 cm). Histologically, SRMS was characterized by the presence of large amounts of heavily hyalinized matrix, mimicking osteoid or chondroid tissue. The tumor cells were composed predominantly of primitive small round cells which were arranged in diverse growth patterns, including fascicular, cord-like, single-file, trabecular, microalveolar and pseudovascular structures. A few rhabdomyoblasts were identified in 1 case. A second spindle cell component was focally found in 2 cases, resembling spindle cell rhabdomyosarcoma or peripheral nerve sheath tumor. Immunohistochemically, all cases showed diffuse staining for Myo D1 and focal staining for desmin. The staining for myogenin was often negative. Three of the cases also expressed muscle-specific actin and 2 cases were positive for alpha-smooth muscle actin. They were all negative for h-caldesmon, S-100 protein, CD31, CD34, AE1/AE3 and anaplastic lymphoma kinase protein.</p><p><b>CONCLUSIONS</b>SRMS differs from ERMS and ARMS morphologically. Recent cytogenetic studies however suggest a histogenetic relationship with ERMS. Familiarity with its morphologic features and immunophenotype may help to distinguish this peculiar variant of rhabdomyosarcoma from a variety of lesions with abundant sclerosing matrix.</p>