UNASSIGNED: Rhabdomyosarcoma of the bladder is an infrequent neoplastic condition characterized by a pronounced malignant situation with challenges in treatment due to the lack of standardized guidelines and large-scale of clinical studies. The patient in this case is tested TP53 mutation that may provide new diagnostic and therapeutic options.
UNASSIGNED: Here, we reported a 34-year-old male who received bladder tumor resection, and diagnosed as bladder rhabdomyosarcoma with TP53 mutation after the pathology test. This patient underwent 6 rounds of chemotherapy. However, the pelvic tumor recurred 11 months after the first surgery. So, the patient accepted the pelvic tumor resection. Only 3 months after the surgical intervention, the patient underwent abdominal massive metastasis and ultimately succumbed to the illness six months following the second surgery. The course of the illness was 22 months.
UNASSIGNED: Bladder rhabdomyosarcoma is a disease with an extremely poor prognosis. Genetic testing holds significant value in the diagnosis and treatment. Perhaps targeted therapy against TP53 is potential valuable for such rare diseases.

BACKGROUND: Orbital rhabdomyosarcoma (RMS), the most common primary malignant orbital tumor in childhood, presents unique challenges in management due to its genetic basis and abnormal cellular proliferation. Management has evolved from surgical excision to multimodal approaches, including surgery, radiotherapy, and chemotherapy. This review explores trends in epidemiology, pathophysiological insights, and treatment evolution to delineate optimal therapeutic strategies.
METHODS: A literature search was conducted across PubMed and Scopus databases up to March 4, 2024, using keywords related to orbital RMS. Studies were selected based on predefined criteria, focusing on clinical presentation, diagnostic modalities, management strategies, and outcomes. Data extraction and analysis were performed independently by 2 reviewers, with quality assessment based on the Oxford Center for Evidence-Based Medicine 2011 guidelines and Joanna Briggs Institute checklists.
RESULTS: The review synthesized data from 17 studies, highlighting demographic patterns, clinical characteristics, staging, and treatment approaches. Most patients were male and white, with a higher proportion of early-stages diagnoses. The embryonal subtype was the most common, and treatment has shifted toward radiation therapy and combined modalities. In orbital RMS, several modalities are applied in treatment. There are radiotherapy, surgical interventions, and chemotherapy. Recent studies put more emphasis on the long-term outcome of the disease about orbital bone development and facial symmetry.
CONCLUSIONS: Management of orbital RMS has evolved significantly, with a current emphasis on multimodal treatment strategies. Future research should focus on optimizing therapeutic approaches to balance effective tumor control with the preservation of orbital function and esthetics.

BACKGROUND: Rhabdomyosarcomas are aggressive tumors that comprise a group of morphologically similar but biologically diverse lesions. Owing to its rarity, Mixed pattern RMS (ARMS and ERMS) constitutes a diagnostic and therapeutic dilemma.
METHODS: Herein is presented a very rare case of mixed alveolar & embryonal rhabdomyosarcoma in the uterus of a 68-year-old woman. The wall of the uterine corpus & cervix was replaced by multiple whitish-yellow, firm nodules, measuring up to 12 cm. Microscopically, the tumor was predominantly composed of round to polygonal cells arranged in nests with alveolar pattern intermingled with hypo- & hypercellular areas of more primitive cells with scattered multinucleated giant cells seen as well. Extensive sampling failed to show epithelial elements. Immunohistochemical staining showed positive staining for vimentin, desmin, myogenin, CD56 & WT-1. However, no staining was detected for CK, LCA, CD10, ER, SMA, CD99, S100, Cyclin-D1 & Olig-2. Metastatic deposits were found in the peritoneum. The patient received postoperative chemotherapy and radiotherapy but died of systemic metastases 3 months after surgery.
CONCLUSIONS: The rarity of this histological tumor entity and its aggressive behavior and poor prognosis grab attention to improving recognition and treatment modalities in adults.

暂无摘要。

Primary cardiac malignancies are rare, with cardiac sarcomas being the main type. Among these, intimal sarcomas are the most common. However, they tend to occur in the great vessels and are rare in the heart, with only a few isolated cases reported. We report a challenging case of a patient with left atrial intimal sarcoma with rhabdomyosarcoma differentiation. The patient was admitted after a physical examination detected left heart occupancy, and initial imaging suspected a left atrial thrombus. The patient then underwent extracorporeal circulation-assisted open cardiac surgery with resection of an atrial mass. The postoperative pathological findings were suggestive of an arterial intimal sarcoma, which included areas of rhabdomyosarcoma differentiation within the tumor tissue. Unfortunately, the patient\'s tumor recurred 4 months later, and she died due to treatment failure. This case highlights the rarity and risk of misdiagnosis of cardiac intimal sarcoma. Additionally, we aim to improve the understanding of intimal sarcoma through a review of immunohistochemistry and gene amplification techniques.

Approximately one third of children with rhabdomyosarcoma relapse or have refractory disease. Treatment approaches include a combination of systemic therapies and local therapies, directed at tumour site(s). This review was conducted to evaluate the effectiveness and safety of the combination of surgery and brachytherapy as local therapy for treating children and young people with relapsed/refractory rhabdomyosarcoma. This review identified studies based on a previous systematic review looking at the treatments for children and young people under 18 years old with relapsed/refractory rhabdomyosarcoma. Studies conducted after 2000 were included. Survival outcomes, relapse rates, adverse events and functional outcomes were extracted. From 16,965 records identified in the baseline systematic review, 205 included the words \'AMORE\' or \'brachytherapy\', and were screened for eligibility in this substudy. Thirteen studies met the inclusion criteria for Local-REFoRMS, including over 55 relapsed and refractory rhabdomyosarcoma patients. Most studies were retrospective cohort studies conducted within Europe. Most patients had embryonal disease within the head and neck or bladder/prostate regions, and received local therapy for first relapse. Approximately one quarter of patients relapsed following surgery and brachytherapy, with local relapses occurring more than metastatic relapse. Adverse events and functional outcomes were infrequently reported, but related to the site of surgery and brachytherapy. Study quality was limited by inconsistent reporting and potential selection bias. Outcomes following surgery and brachytherapy for a selected group of relapsed and refractory rhabdomyosarcoma show reasonable benefits, but reporting was often unclear and based on small sample sizes.

Rhabdomyosarcoma (RMS) is the third most common extra-cranial sarcoma occurring in childhood, adolescents, and young adults (AYAs); and is rare in adults. Literature about RMS mainly considers RMS in AYAs, either with that in the children or adults, even though histological, molecular, and clinical characteristics of RMS in AYAs are significantly different from either of the two. Herein, we report a case of prostatic embryonal RMS, in a 17-year-old boy, along with the review of literature of prostatic RMS, with emphasis on AYAs. Our patient presented with clinical complaints of acute urinary retention, Grade IV prostatomegaly and, low serum prostate-specific-antigen (0.11ng/dl). The diagnosis was clinched by prostatic biopsy, which revealed diffuse \'small round blue cell\' tumour admixed with larger rhabdomyoblasts, displaying positivity for desmin and myogenin, on immunohistochemistry. Clinicians should be mindful that RMS is found in all age groups ranging from childhood to adults; however, the clinical, histological, and molecular features are different. RMS in AYAs is often treated according to the guidelines provided for the paediatric age group. Treatment mostly comprises a multimodality approach, including surgery with/without chemo- and radiotherapy. Prognosis in AYAs is worse than in children but is better than in adults. Thus, early diagnosis gains utmost importance to provide comparatively more probability of rendering treatment and, hopefully, a better quality of life.

Rhabdomyosarcoma of the prostate is a rare mesenchymal tumor that originates from undifferentiated mesenchymal cells. Spindle cell rhabdomyosarcoma is a variant of embryonal rhabdomyosarcoma. The vast majority of these two pathological types occur in children, with only a few adult cases reported to date, and both are associated with poor clinical outcomes. We herein report a case involving a man in his early 40s with spindle cell embryonal rhabdomyosarcoma of the prostate. His chief complaint was difficult urination. The diagnosis was confirmed by puncture biopsy of the prostate, and pelvic lymph node metastasis was already present at the time of diagnosis. The patient underwent three courses of chemotherapy. However, his response to the treatment was very poor, and he died of the disease 4 months after diagnosis.

Rhabdomyosarcoma is a highly malignant tumor with striated muscle differentiation, which is histologically classified as alveolar, embryonal, pleomorphic, and spindle cell/sclerosing histological subtype. Rhabdomyosarcoma with TFCP2 rearrangement, which usually occurs in the bone, is a newly identified rare spindle and epithelioid rhabdomyosarcoma with characteristic clinicopathological features and molecular alterations. We report a 39-year-old female patient who underwent local excision of the mandibular lesion. Microscopically, the intraosseous tumor was composed of spindle-shaped, epithelioid, and rhabdomyoblastic cells with atypical nuclei and atypical mitotic figures. In addition, TFCP2 rearrangement was revealed by the fluorescence in situ hybridization. The tumor was thus correctly diagnosed as rhabdomyosarcoma with TFCP2 rearrangement. The patient was scheduled to undergo radiotherapy, and triple-agent chemotherapy after surgery, and no tumor recurrence or metastasis was detected during the 3-month postoperative follow up. Since this tumor is relatively rare and newly recognized, it can be easily misdiagnosed or missed and might be a conundrum of pathological diagnosis. Familiarity with its clinicopathological features and molecular alterations is essential for its correct diagnosis. Therefore, we summarized the clinicopathological, immunohistochemical, and molecular alterations of 43 cases of this rare rhabdomyosarcoma variant in the English-language literature. In addition, the differential diagnosis of this lesion is crucial either.

UNASSIGNED: Rhabdomyosarcoma of the female genital tract often involves the vagina and cervix. It usually occurs in infants and children. Such tumors are uncommon in the uterus, especially in adults. Treatment options are based on studies of younger individuals.
UNASSIGNED: Rhabdomyosarcoma (RMS) is a malignant mesenchymal neoplasm with a tendency to differentiate into skeletal muscle cells. RMS is an aggressive tumor that tends to develop in children and younger patients. A vast majority of genital tract RMSs occur in the vagina and cervix. Such tumors rarely occur in adults. Usually, these tumors either occur as a component of a biphasic uterine tumor (carcinosarcoma or adenosarcoma) or can be a pure heterologous tumor. Pure uterine RMSs are extremely rare in adult patients and difficult to diagnose. Accurate diagnosis of these tumors depends on precise histopathological evaluation. The present report describes a rare case of embryonal RMS of the uterus in a postmenopausal female and explores the most recent literature. The aim is to strengthen the existing literature and aid clinicians in the management of similar cases. A 64-year-old postmenopausal female presented with a history of abdominal pain associated with abdominal distension, per vaginal bleeding, and foul-smelling discharge for 6 months. A transabdominal ultrasound revealed a bulky uterus with a well-circumscribed heterogeneous lesion. Histopathology confirmed the diagnosis of high-grade embryonal RMS within the corpus region of the uterus. A total abdominal hysterectomy with bilateral salpingo-oophorectomy was performed, followed by adjuvant chemotherapy to prevent relapse of the disease. Six months after oncological care has passed, the patient remains symptoms-free without evidence of recurrence or metastasis.