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Journal of Oral and Maxillofacial... 2023Rhabdomyosarcoma (RMS) is the most common sarcoma among children and accounts for 20% of soft tissue sarcomas. In children, close to 50% of rhabdomyosarcomas arise in...
Rhabdomyosarcoma (RMS) is the most common sarcoma among children and accounts for 20% of soft tissue sarcomas. In children, close to 50% of rhabdomyosarcomas arise in the head and neck. RMS of the oral cavity is rare and is seen in only 10-12% of all head and neck lesions and the involvement of the jaws is extremely rare. Histopathologically, the various types are pleomorphic type, botryoid type, spindle cell type, embryonal, and alveolar type of RMS. The alveolar variant accounts for almost 30% of all rhabdomyosarcomas and tends to arise in patients of the age group 10-25 years. We present a case of orofacial RMS in a young adult who was referred to our Institution for the management of an odontogenic lesion of the maxilla. The clinicopathological aspects and poor survival rate as a consequence of delayed diagnosis are discussed. We dentists may misdiagnose it as an odontogenic tumour due to its location in the oral and maxillofacial region. Careful clinical history and examination and investigations may help to narrow down the diagnosis. Expert opinion and referrals to oral pathologists and oncologists are essential to arrive at early diagnosis and to initiate the treatment.
PubMed: 37854913
DOI: 10.4103/jomfp.jomfp_534_22 -
BMJ Case Reports Mar 2021Alveolar rhabdomyosarcoma (ARMS) has a predilection for the peripheral extremities, and brain metastases are rare, with only a few cases reported after the initial...
Alveolar rhabdomyosarcoma (ARMS) has a predilection for the peripheral extremities, and brain metastases are rare, with only a few cases reported after the initial diagnosis. We present a 22-year-old male patient with a right orbital-ethmoidal ARMS who presented with a recurrence to the brain 1 year after the initial diagnosis. He was referred to our institution due to acute neurological deterioration. A brain MRI was performed, showing an enhancing bilateral parafalcine lesion centred about the bilateral cingulate gyri with extension into the corpus callosum. The patient was taken to the operating room for a stereotactic biopsy under general anaesthesia, which was compatible with metastatic ARMS. Our case is exceedingly rare, considering the initial diagnosis of an orbital/ethmoidal ARMS, its subsequent metastasis to the brain and its clinical sequelae after a biopsy. Prognosis after cerebral metastatic ARMS is dismal, with most patients expiring due to central nervous system metastatic disease.
Topics: Adult; Brain; Brain Neoplasms; Humans; Male; Neoplasm Recurrence, Local; Rhabdomyosarcoma; Rhabdomyosarcoma, Alveolar; Young Adult
PubMed: 33664037
DOI: 10.1136/bcr-2020-240516 -
BMC Surgery Jan 2021Perianal/perineal rhabdomyosarcomas (PRMS) are easily misdiagnosed soft tissue tumours with a poor prognosis. This study was designed to analyze the clinical,...
BACKGROUND
Perianal/perineal rhabdomyosarcomas (PRMS) are easily misdiagnosed soft tissue tumours with a poor prognosis. This study was designed to analyze the clinical, diagnostic, pathological and prognostic features of PRMS, and to explore currently available therapeutic modalities.
METHODS
Clinical data of PRMS patients admitted to the Sixth Affiliated Hospital and the Cancer Center of Sun Yat-sen University and from related Chinese literature published from 1987 to 2018 were collected and analyzed. The Chi-square test was used to evaluate the differences between each group. The Kaplan-Meier methods were applied to estimate and compare survival rates.
RESULTS
A total of 35 patients were included in this study; 20 identified within related Chinese literatures and 15 from our center admitted during the period of 1997-2019. Out of these cases, 34 presented with perianal masses and the remaining one manifested as an inguinal mass. Moreover, 20 patients complained of pain and 16 of them were misdiagnosed as perianal abscesses, in which the presence of pain contributed to the misdiagnosis (p < 0.05). The average time interval between symptom onset and pathological diagnosis was 3.1 months. Next, 13 cases were classified into IRS group III/IV and 20 cases into stages 3/4. Additionally, 14 and 9 cases received the pathological diagnoses of embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma, respectively. Regarding the patients' survival rates, five patients survived for more than 2 years, and three of them survived for more than 5 years. The overall 2 years and 5 years survival rates were 32% and 24%, respectively. The symptom of pain and misdiagnosis both contributed to the poor prognosis in these patients (p < 0.05). MRI showed that the PRMS were closely related to external anal sphincter in 10 cases.
CONCLUSION
PRMS are easily misdiagnosed lesions, which often leads to an unfavourable outcome in affected patients. Patients with painful perianal masses should be evaluated to exclude PRMS. MRI revealed that PRMS are closely related to the external anal sphincter. Multidisciplinary management is recommended in the treatment of PRMS.
Topics: Adolescent; Adult; Anal Canal; Anus Neoplasms; Child; Child, Preschool; Diagnosis, Differential; Diagnostic Errors; Humans; Image-Guided Biopsy; Infant; Kaplan-Meier Estimate; Magnetic Resonance Imaging; Middle Aged; Perineum; Prognosis; Rectum; Rhabdomyosarcoma; Soft Tissue Neoplasms; Survival Rate; Treatment Outcome; Ultrasonography; Young Adult
PubMed: 33516222
DOI: 10.1186/s12893-021-01073-x -
Frontiers in Oncology 2022Rhabdomyosarcoma (RMS) is a soft tissue tumor, which is the most common in the head, neck, limbs, and trunk. RMS originating from the epididymis is extremely rare....
Rhabdomyosarcoma (RMS) is a soft tissue tumor, which is the most common in the head, neck, limbs, and trunk. RMS originating from the epididymis is extremely rare. Herein, we reported a 34-year-old patient with RMS on the right epididymis. For this case, right epididymal mass resection was performed and intraoperative freezing suggested a malignant tumor. Right testicular radical resection was subsequently adopted, with right epididymal alveolar RMS being pathologically diagnosed. Alternating VAC/VI chemotherapy was given after surgery, and tumor recurrence has not been found so far.
PubMed: 36408167
DOI: 10.3389/fonc.2022.1027504 -
Cancer Metastasis Reviews Dec 2019While sarcomas account for approximately 1% of malignant tumors of adults, they are particularly more common in children and adolescents affected by cancer. In contrast... (Review)
Review
While sarcomas account for approximately 1% of malignant tumors of adults, they are particularly more common in children and adolescents affected by cancer. In contrast to malignancies that occur in later stages of life, childhood tumors, including sarcoma, are characterized by a striking paucity of somatic mutations. However, entity-defining fusion oncogenes acting as the main oncogenic driver mutations are frequently found in pediatric bone and soft-tissue sarcomas such as Ewing sarcoma (EWSR1-FLI1), alveolar rhabdomyosarcoma (PAX3/7-FOXO1), and synovial sarcoma (SS18-SSX1/2/4). Since strong oncogene-dependency has been demonstrated in these entities, direct pharmacological targeting of these fusion oncogenes has been excessively attempted, thus far, with limited success. Despite apparent challenges, our increasing understanding of the neomorphic features of these fusion oncogenes in conjunction with rapid technological advances will likely enable the development of new strategies to therapeutically exploit these neomorphic features and to ultimately turn the "undruggable" into first-line target structures. In this review, we provide a broad overview of the current literature on targeting neomorphic features of fusion oncogenes found in Ewing sarcoma, alveolar rhabdomyosarcoma, and synovial sarcoma, and give a perspective for future developments. Graphical abstract Scheme depicting the different targeting strategies of fusion oncogenes in pediatric fusion-driven sarcomas. Fusion oncogenes can be targeted on their DNA level (1), RNA level (2), protein level (3), and by targeting downstream functions and interaction partners (4).
Topics: Animals; Bone Neoplasms; CRISPR-Cas Systems; Child; Genetic Therapy; Humans; Oncogene Proteins, Fusion; Pediatrics; Rhabdomyosarcoma, Alveolar; Sarcoma; Sarcoma, Ewing
PubMed: 31970591
DOI: 10.1007/s10555-019-09839-9 -
Asian Journal of Surgery Aug 2023
Topics: Humans; Rhabdomyosarcoma, Alveolar; Magnetic Resonance Imaging
PubMed: 36914472
DOI: 10.1016/j.asjsur.2023.03.022 -
Pediatric Radiology Nov 2023To investigate the feasibility of diffusion-weighted magnetic resonance imaging (DW-MRI) as a predictive imaging marker after neoadjuvant chemotherapy in patients with...
Quantitative diffusion-weighted MRI response assessment in rhabdomyosarcoma: an international retrospective study on behalf of the European paediatric Soft tissue sarcoma Study Group Imaging Committee.
OBJECTIVE
To investigate the feasibility of diffusion-weighted magnetic resonance imaging (DW-MRI) as a predictive imaging marker after neoadjuvant chemotherapy in patients with rhabdomyosarcoma.
MATERIAL AND METHODS
We performed a multicenter retrospective study including pediatric, adolescent and young adult patients with rhabdomyosarcoma, Intergroup Rhabdomyosarcoma Study group III/IV, treated according to the European paediatric Soft tissue sarcoma Study Group (EpSSG) RMS2005 or MTS2008 studies. DW-MRI was performed according to institutional protocols. We performed two-dimensional single-slice tumor delineation. Areas of necrosis or hemorrhage were delineated to be excluded in the primary analysis. Mean, median and 5th and 95th apparent diffusion coefficient (ADC) were extracted.
RESULTS
Of 134 included patients, 82 had measurable tumor at diagnosis and response and DW-MRI scans of adequate quality and were included in the analysis. Technical heterogeneity in scan acquisition protocols and scanners was observed. Mean ADC at diagnosis was 1.1 (95% confidence interval [CI]: 1.1-1.2) (all ADC expressed in * 10 mm/s), versus 1.6 (1.5-1.6) at response assessment. The 5th percentile ADC was 0.8 (0.7-0.9) at diagnosis and 1.1 (1.0-1.2) at response. Absolute change in mean ADC after neoadjuvant chemotherapy was 0.4 (0.3-0.5). Exploratory analyses for association between ADC and clinical parameters showed a significant difference in mean ADC at diagnosis for alveolar versus embryonal histology. Landmark analysis at nine weeks after the date of diagnosis showed no significant association (hazard ratio 1.3 [0.6-3.2]) between the mean ADC change and event-free survival.
CONCLUSION
A significant change in the 5th percentile and the mean ADC after chemotherapy was observed. Strong heterogeneity was identified in DW-MRI acquisition protocols between centers and in individual patients.
Topics: Adolescent; Young Adult; Humans; Child; Diffusion Magnetic Resonance Imaging; Retrospective Studies; Sarcoma; Rhabdomyosarcoma
PubMed: 37682330
DOI: 10.1007/s00247-023-05745-z -
NPJ Precision Oncology Feb 2023We designed a liquid biopsy (LB) platform employing low-pass whole genome sequencing (LP-WGS) and targeted sequencing of cell-free (cf) DNA from plasma to detect...
We designed a liquid biopsy (LB) platform employing low-pass whole genome sequencing (LP-WGS) and targeted sequencing of cell-free (cf) DNA from plasma to detect genome-wide copy number alterations (CNAs) and gene fusions in pediatric solid tumors. A total of 143 plasma samples were analyzed from 19 controls and 73 patients, including 44 bone or soft-tissue sarcomas and 12 renal, 10 germ cell, five hepatic, and two thyroid tumors. cfDNA was isolated from plasma collected at diagnosis, during and after therapy, and/or at relapse. Twenty-six of 37 (70%) patients enrolled at diagnosis without prior therapy (radiation, surgery, or chemotherapy) had circulating tumor DNA (ctDNA), based on the detection of CNAs from LP-WGS, including 18 of 27 (67%) patients with localized disease and eight of 10 (80%) patients with metastatic disease. None of the controls had detectable somatic CNAs. There was a high concordance of CNAs identified by LP-WGS to CNAs detected by chromosomal microarray analysis in the matching tumors. Mutations identified in tumor samples with our next-generation sequencing (NGS) panel, OncoKids®, were also detected by LP-WGS of ctDNA in 14 of 26 plasma samples. Finally, we developed a hybridization-based capture panel to target EWSR1 and FOXO1 fusions from patients with Ewing sarcoma or alveolar rhabdomyosarcoma (ARMS), respectively. Fusions were detected in the plasma from 10 of 12 patients with Ewing sarcoma and in two of two patients with ARMS. Combined, these data demonstrate the clinical applicability of our LB platform to evaluate pediatric patients with a variety of solid tumors.
PubMed: 36805676
DOI: 10.1038/s41698-023-00357-0 -
International Journal of Surgery Case... Aug 2022Rhabdomyosarcoma of the cervix is among the rare histological types of cervical cancers, which are usually seen in young girls or women in the general active period. The...
Rhabdomyosarcoma of the cervix is among the rare histological types of cervical cancers, which are usually seen in young girls or women in the general active period. The usual circumstances of diagnosis are dominated by recurrent metrorrhagia. At the initial stage, the lesions may be asymptomatic or take on the appearance of a benign polyp. In the case reported here, the clinical symptomatology was recurrent metrorrhagia with a cervical implanted polyp occurring 28 months after resection of a benign polyp. RMS is one of the malignant tumors of mesenchymal origin. Typically, it is a malignant tumor proliferation of cells with morphological and/or phenotypic striated muscle differentiation. The characteristic cells of this tumor are rhabdomyoblasts rhabdomyosarcomas are classified into three histological subtypes: embryonal, alveolar, and anaplastic. Within embryonal RMS, it is possible to distinguish between botryoid, leiomyomatous and anaplastic forms. Botryoid and leiomyomatous forms are classically described as having a more favorable prognosis. Treatment is based on a multidisciplinary approach that includes indications for conservative surgery, chemotherapy, radiotherapy and brachytherapy.
PubMed: 35870214
DOI: 10.1016/j.ijscr.2022.107389 -
Annals of Medicine and Surgery (2012) Sep 2022Omental alveolar rhabdomyosarcoma (ARMS) in adults is a rare tumor and is not a common presentation of abdominal pain. We aim to report the eighth case of omental ARMS...
INTRODUCTION AND IMPORTANCE
Omental alveolar rhabdomyosarcoma (ARMS) in adults is a rare tumor and is not a common presentation of abdominal pain. We aim to report the eighth case of omental ARMS and perform a review of all publications that pertains to this topic.
CASE PRESENTATION
we show a case of a Mediterranean 52 year old smoker male, complaining of unbearable dull pain in the right iliac fossa. He had no relevant medical history other than general abdominal pain in the past several months.
CLINICAL DISCUSSION
the chief complaint was abdominal pain mimicking appendicitis. Physical examination showed a palpable mass in that region. Ultrasound and CT scan revealed a mass arising from the omentum. At this point we excluded the diagnosis of appendicitis and a laparotomy with biopsies sampling had been performed. The microscopical examination led to the diagnosis of alveolar rhabdomyosarcoma (ARMS). Treatment involved multidisciplinary care but the patient died during chemotherapy.
CONCLUSION
Adult rhabdomyosarcomas (RMS) are rare tumors that can arise from any soft tissue including omentum and should be taken into consideration when dealing with primary tumors that originate from the omental area. The studies and our understanding for this neoplasm are still very limited and should be expanded widely.
PubMed: 36147128
DOI: 10.1016/j.amsu.2022.104464