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Background. Spindle cell/sclerosing rhabdomyosarcoma is a rare neoplasm and has an aggressive clinical course. Because of its rarity, we performed a multi-institutional collaboration to comprehend the overarching clinical, histopathological, and immunohistochemical characteristics of a cohort of spindle cell/sclerosing rhabdomyosarcoma. Materials and Methods. Forty-five patients with spindle cell/sclerosing rhabdomyosarcoma were identified. Demographics, clinical, histopathological, and immunohistochemistry data were reviewed and recorded. Results. The patients' age ranged from 1 to 85 years with a male to female ratio of 1.2:1. There were 15 children/adolescents and 30 adults. Eighteen (40%) tumors were located in the head and neck region. Twenty-four (53%) tumors displayed a bimorphic cellular arrangement with hypercellular areas having short, long, and sweeping fascicular and herringbone pattern, and hypocellular areas with stromal sclerosis and associated hyalinized and/or chondromyxoid matrix. Histomorphological differentials considered were leiomyosarcoma, malignant peripheral nerve sheath tumor, fibrosarcoma, nodular fasciitis, liposarcoma, synovial sarcoma, sarcomatoid carcinoma, solitary fibrous tumor, dermatofibrosarcoma protuberans, and schwannoma. Six tumors exhibited marked stromal sclerosis. The myogenic nature was confirmed by immunohistochemistry. Positivity for at least one skeletal muscle-associated marker (MyoD1 and/or myogenin) was observed. Conclusion. Spindle cell/sclerosing rhabdomyosarcoma diagnosis can be challenging as a number of malignant spindle cell neoplasm mimic this entity. Thus a correct diagnosis requires immunohistochemical work up with a broad panel of antibodies. In view of rarity of this neoplasm, further studies on a large cohort of patients with clinical follow-up data are needed for a better understanding of this tumor. [ABSTRACT FROM AUTHOR]

We report a rare case of spindle cell rhabdomyosarcoma. Sarcomas generally exhibit an abnormal increased FDG uptake on 18F-FDG PET/CT imaging, while spindle cell rhabdosarcomas exhibits a significantly increased lesion uptake on 68Ga FAPI PET/CT imaging compared to 18F-FDG. This case suggests that 68Ga-FAPI PET/CT has potential value in evaluating spindle cell rhabdomyosarcoma. [ABSTRACT FROM AUTHOR]

Para-testicular rhabdomyosarcoma (PTRMS) is a rare tumor, and it accounts for 7% of all rhabdomyosarcoma tumors. Among all the rhabdomyosarcoma (RMS) types, the spindle cell RMS is extremely rare. The present study describes a case of a para-testicular spindle cell RMS that was treated with a radical inguinal orchiectomy (RIO) and right scrotal resection. A 17-year-old male patient presented with a half-year history of a rapidly growing, painless, right scrotal mass. His CT of the pelvic cavity showed a mixed-density mass in the right scrotum, and the maximum cross-sectional area was approximately 76.5 mm x 64.5 mm. An X-ray of the chest demonstrated no evidence of metastasis, and a local surgical excision was performed subsequently. The histopathological and immunohistochemical examination confirmed the final diagnosis of spindle cell RMS. As a newly diagnosed case, strict and regular follow-up is needed. This article focuses on the importance of prompt recognition, diagnosis, pathological features, and appropriate management of para-testicular spindle cell RMS. [ABSTRACT FROM AUTHOR]

Paratesticular embryonal rhabdomyosarcoma is a rare malignancy developed from a mesenchymal tissue of spermatic cord, testicular components. Spindle cell rhabdomyosarcoma (SCR) is a variant of embryonal rhabdomyosarcoma affecting the paratesticular region of adult patients and is even rarer. Given the limited guidelines available to manage SCR and the rarity of reported cases, our report aims to discuss a new case of this entity in a 66-years old Moroccan patient. Paratesticular SCR is a very rare tumor and requires attention from urologists to consider this entity as differential diagnosis when suspecting malignancies in the urogenital region.

We report a rare case of spindle cell rhabdomyosarcoma (ScRMS) in a 20-year-old male patient who visited the dental clinic at the Dental Hospital, Qassim University, with an intraoral swelling on the anterior right side of the maxilla, with a subsequent increase in size with tenderness. Clinical, imaging, and histopathological evaluations involving immunohistochemical staining revealed the diagnosis of ScRMS. This report signifies the importance of detailed examination and interdisciplinary collaboration in diagnosing and managing rare tumors.

Spindle cell rhabdomyosarcoma (SCRM), a rare and distinct subtype of RM, predominantly affects children. While SCRM can manifest in the head and neck regions of adults, primary occurrences in the thorax are exceedingly uncommon. In the present study, a 24-year-old female patient was admitted to the Affiliated Hospital of Zunyi Medical University (Zunyi, China) with a 10-month history of dull pain in the right side of the chest. The patient had previously received treatment for right-sided tuberculous pleurisy at another hospital for 6 months, but the symptoms persisted, and the chest pain progressively worsened. A chest computed tomography scan now revealed a large mass in the right thorax. Pathological examination following surgical resection confirmed a diagnosis of SCRM. The patient did not undergo standardized postoperative chemoradiotherapy and the 5-year follow-up examination indicated tumor recurrence. Primary thoracic SCRM is a rare tumor that morphologically resembles other spindle cell tumors. Immunohistochemistry is crucial for an accurate diagnosis, and surgical resection remains the primary treatment approach. The clinicopathological features, molecular genetic characteristics and biological behavior of SCRM are largely unknown due to its rarity. Consequently, large-sample studies are essential to enhance the understanding of this tumor and advance precision medicine treatments. [ABSTRACT FROM AUTHOR]

Background: Rhabdomyosarcoma (RMS) is the most common soft tissue tumor in children, and its most common pathological types include embryonal RMS and alveolar RMS. In contrast, spindle cell RMS (SRMS) is a rare type. Moreover, the tongue is a rare primary site of RMS, and infancy is a rare age at onset. Case presentation: Two infants were diagnosed with lingual RMS at 3 and 5 months after birth, respectively, and were admitted to Beijing Children's Hospital. The pathological type in both cases was SRMS. Both were classified as low-risk and were treated with surgery and chemotherapy. Case 1 was in complete remission at the latest follow-up, and Case 2 had a relapse 10 months after stopping chemotherapy, achieving complete remission after the multimodal treatment of chemotherapy, surgery, and radiotherapy. The venous blood gene test of the two infants did not indicate a pathogenic mutation or a possible pathogenic mutation related to RMS. In Case 1, variants of the CDK4 and BRCA1 genes, both with unknown significance and a possible relation to RMS, were detected. In Case 2, three gene variants of unknown significance that were possibly associated with RMS--TRIP13, APC, and RAD54L--were identified. Conclusion: Lingual RMS in infants is rare. Its clinical manifestations lack specificity, and early recognition is complex. The success and timing of local treatment are important prognostic factors. Genetic testing may be helpful for the early detection of tumor susceptibility and the estimation of prognosis. [ABSTRACT FROM AUTHOR]

We report a rare case of spindle cell rhabdomyosarcoma. Sarcomas generally exhibit an abnormal increased FDG uptake on 18F-FDG PET/CT imaging, while spindle cell rhabdosarcomas exhibits a significantly increased lesion uptake on 68Ga FAPI PET/CT imaging compared to 18F-FDG. This case suggests that 68Ga-FAPI PET/CT has potential value in evaluating spindle cell rhabdomyosarcoma.

Spindle cell rhabdomyosarcoma (RMS) is a rare variant of RMS accounting for up to 10% of cases in infants. In older children and adults, spindle cell RMS is associated with MYOD1 mutations and a poor prognosis. In infants, it is associated with recurring fusions involving NCOA2 and VGLL2. Reports in the literature suggest a favorable prognosis for this subset, however, little is known about treatment and outcome data of infants with spindle cell RMS. Characteristics, treatment, and outcome of an international cohort of 40 patients aged ≤ 12 months with spindle cell RMS treated from 1997 to 2018 were evaluated. Localized disease (LD) was diagnosed in 39 patients. The median age at diagnosis was 2.5 months (range 0–12 months). Expert pathologic review confirmed the diagnosis of spindle cell RMS in all patients. Among 26 tumors that had molecular evaluation, 13 had rearrangements of NCOA and/or VGLL. Multimodal treatment of infants with LD included conventional (age adjusted) chemotherapy (n = 37), resection (n = 31) and radiotherapy (RT) (n = 5, brachytherapy in 3). Complete remission was achieved in 37/39 patients. Progressive disease occurred in two infants, relapsed disease in three. Microscopically complete surgical resection was associated with five-year event-free survival (EFS) and overall survival (OS) of 100%. Two patients with tumors ≤ 5 cm were treated with microscopically complete resection only and were alive 1 and 4.2 years after diagnosis. The 5-year EFS and OS for infants with LD were 86% (±11; CI 95%) and 91% (±9; CI 95%), respectively. One patient had metastatic disease (NCOA fusion positive) with primary tumor in head and neck and brain metastases. This patient died despite chemotherapy and delayed resection of the primary tumor due to respiratory failure secondary to cytomegalovirus infection 1.2 years after diagnosis. Infants with spindle cell RMS have an excellent prognosis. Multimodal treatment including microscopically complete resection of the tumor is strongly recommended. • International cohort of 40 patients aged ≤12 months with spindle cell rhabdomyosarcoma. • Characteristics, treatment, and outcome analyzed in 39 patients with localized disease. • Among 26 tumors that had molecular evaluation, 13 had rearrangements of NCOA2 and/or VGLL2. • The 5-year EFS and OS for infants with localized disease were 86% and 91%, respectively. [ABSTRACT FROM AUTHOR]

Background and objective Rhabdomyosarcoma (RMS) is a rare and malignant mesenchymal tumor characterized by skeletal muscle differentiation. While it is a common soft tissue sarcoma in children, its incidence significantly decreases with advancing age, rendering it exceptionally rare in individuals aged more than 45 years. This study aimed to shed light on the clinicopathological diversity and subtypes of RMS, thereby providing a comprehensive overview for enabling diagnostic precision and therapeutic strategies in treating this infrequently encountered malignancy in adults. Methodology This was a hospital-based cross-sectional study conducted in the Department of Pathology. Patients who were diagnosed with RMS over a period of three years were included in the study. The demographic features such as age and sex and aspects related to the tumor site, size, subtypes of RMS, and immunohistochemical expression were studied. Results A total of 14 cases were included in our study. The age at diagnosis ranged from four months to 65 years with a male-to-female ratio of 1:2.5. The sites of presentation were head and neck, trunk, pelvis, genitourinary tract, and retroperitoneum. The histological types were embryonal, alveolar, pleomorphic, and mixed and spindle cell types. The tumor cells were positive for immunohistochemistry markers desmin, MyoD1, and vimentin. Conclusion This study delved into the clinicopathological intricacies of RMS, offering comprehensive insights into its diverse subtypes. Our findings underscore the unique presentation of RMS in adults, with trunk and genitourinary tracts emerging as primary sites and alveolar and pleomorphic RMS observed as the predominant histological subtypes. Furthermore, the study sheds light on rare subtypes with distinct anatomical distributions., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Mandava et al.)

This systematic review aimed to analyze the clinicopathological profile and relevant prognostic factors of head and neck rhabdomyosarcoma in pediatric patients. The search was carried out in the electronic search portals PubMed, Lilacs, Embase, Scopus, and Web of Science. The search yielded studies that were then analyzed regarding study topic, data extraction, and risk of bias using the STROBE (Strengthening the Reporting of Observational Studies) guidelines. Finally, three studies were included for qualitative analysis. Most of the cases involved embryonic and alveolar rhabdomyosarcoma. Expression of MYOD1 was highly correlated with diagnosis of spindle cell/sclerosing rhabdomyosarcoma, which appears to have a poor prognosis in children. Furthermore, tumor size <5 cm and absence of metastasis accompanied by complete resection and administration of adjuvant therapies such as chemotherapy and radiotherapy favored a better prognosis.

Background: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood, while in adults it is one of the rarer tumors. Its prognosis is better in children with current treatment modalities; however, it carries poorer prognosis in adults. Recent data on adult RMS is scarce from our part of world. We report outcomes of adult patients with RMS, and with 40 patients; it is the first study to publish such a large data from Pakistan., Methods: This was a retrospective study that included 64 adult patients aged 18 years and older. After data extraction and scrutiny, a total of 40 patients were segregated with diagnosis of RMS of various varieties who were treated and followed up subsequently. International Business Machines (IBM) Statistical Package for Social Sciences (SPSS), version 26 (IBM Corp., Armonk, NY) was used to evaluate all of the gathered data., Results: Embryonal RMS (ERMS) was the most common subtype. Factors favoring better overall survival (OS) at 5 years were absence of nodal and distal metastases, treatment with surgery, margin negative resection, and absence of residual disease on postoperative imaging. Adjuvant radiation therapy (XRT) for positive resection margins as well as for residual disease on postoperative imaging also favored better OS at 5 years. Chemotherapy did impart a trend towards better OS; however, it was not significant. Histopathologic subtype and tumor size did not have any significant impact on outcomes. Median progression free survival (PFS) was 11 months and median OS was 15 months., Conclusions: Adult RMS is a rare disease entity with widely heterogeneous clinical picture and poorer outcomes as compared to the disease of childhood and adolescence. Further prospective studies with larger sample size are required to establish role of patient, disease, and treatment-related factors affecting outcomes in our population., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Rab et al.)

The mammalian Vestigial-like (VGLL) transcriptional cofactor family of proteins VGLL1-4 has recently emerged as an important player in the tumorigenesis of diverse neoplasms. The role of VGLL3 in soft tissue tumors is exemplified by its amplification in myxoinflammatory fibroblastic sarcoma and its rearrangement (fused to CHD7, CHD9, or MAMLD1) in hybrid schwannoma-perineurioma. This study characterizes a distinctive low-grade myogenic neoplasm with a striking predilection for the head and neck, characterized by VGLL3 fusions. The study includes five males and one female patient, aged 30-71 years (median, 56). Three tumors originated in the tongue, with one case each in the nasopharynx, oral cavity, and oropharynx. The VGLL3 fusion partners included TCF12 (n = 3), EP300 (n = 2), and PPARGC1A (n = 1). The tumor size range was 0.8-1.6 cm (all, but one, was <1 cm). Histologically, all tumors displayed bland spindle to ovoid cells arranged into vague fascicular and diffuse patterns. Mitotic activity ranged from 1 to 7 per 10 HPFs. Five tumors were muscle-centered and infiltrative, and one was centered beneath nasopharyngeal mucosa. Immunohistochemistry revealed consistent expression of desmin (diffuse in four and patchy in two cases) associated with patchy smooth muscle actin expression (4/6), and focal reactivity for myogenin (5/6) and myoD1 (1/3). All patients were managed surgically; one patient each received adjuvant radio- or chemotherapy. Three patients with follow-up were without disease at 8, 19, and 60 months and one was alive with unknown disease status at 24 months. All VGLL3 fusions were in-frame and involved exon 2, fused with either TCF12 exon 16, EP300 exon 31, or PPARGC1A exon 5, respectively. This series characterizes a distinctive subset of spindle cell rhabdomyosarcoma (RMS) with a predilection for the head and neck in adults, defined by VGLL3 fusions, likely indolent behavior and limited rhabdomyoblastic differentiation. Further delineation of this entity and differentiation from more aggressive molecular subtypes of spindle cell RMS is mandatory to define the most appropriate therapeutic strategy and avoid overtreatment., (© 2022 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.)