Embryonal Rhabdomyosarcoma Research Articles

PRAME protein expression in DICER1-related tumours.

DICER1 syndrome is an autosomal dominant tumour predisposition syndrome usually affecting persons under 30 years of age. Many of the associated benign and malignant lesions occur almost exclusively in DICER1 syndrome. One such tumour, pituitary blastoma (pitB), overexpresses PRAME 500x above control levels. PRAME (PReferentially expressed Antigen in MElanoma) is expressed in malignancies that are not DICER1‐related (e.g. melanoma). To address whether PRAME expression is part of the DICER1 phenotype, or simply a feature of pitB, a series of 75 DICER1‐mutated specimens and 33 non‐mutated specimens was surveyed using immunohistochemistry for PRAME, together with EZH2, which complexes with PRAME. In DICER1‐mutated specimens, positive staining for PRAME was only seen in malignant tumours; 7 of 11 histological types and 34/62 individual tumours were positive, while non‐tumourous lesions were always negative. Pleuropulmonary blastoma (PPB) showed a continuum in staining, with type I lesions being PRAME negative (n = 7) but all type II and type III lesions PRAME positive (n = 7). Similarly, cystic nephroma (CN) was negative (n = 8), with anaplastic sarcoma of the kidney being positive (n = 2). However, one atypical CN with mesenchymal cell proliferation was PRAME‐positive. Embryonal rhabdomyosarcoma (RMS) with DICER1 pathogenic variants (PVs) was positive for PRAME (5/6), but the same tumour type without DICER1 PVs was also positive (9/15). Staining for EZH2 corresponded to that seen with PRAME, validating the latter. This study leads us to conclude that (1) PRAME expression occurs in two‐thirds of DICER1‐related malignancies; (2) PRAME may be a marker for the progression that certain DICER1‐related lesions are thought to undergo, such as PPB and CN; and (3) PRAME expression in some tumours, such as RMS, appears to be an intrinsic feature of the tumour, rather than specifically related to DICER1 PVs. Therapy directed against PRAME may offer novel treatment options in patients with the DICER1 syndrome.

Expression and diagnostic value of NKX3.1 and NKX2.2 in mesenchymal chondrosarcoma

Objective: To investigate the immunohistochemical expression of NKX3.1 and NKX2.2 in mesenchymal chondrosarcoma (MC), and to explore the differential diagnostic value of NKX3.1 and NKX2.2 in MC and other types of small round cell malignant tumors. Methods: A total of 12 cases of MC and 97 other small round cell malignant tumors diagnosed in Jinling Hospital, Nanjing University School of Medicine from 2001 to 2020 were collected for NKX3.1 and NKX2.2 immunohistochemical detection. Among them, two kinds of NKX3.1 antibodies [rabbit polyclonal antibody and rabbit monoclonal antibody (EP356)] were used for detection in 12 cases of MC, and one NKX3.1 antibody (rabbit polyclonal antibody) was detected in 97 cases of other small round cell malignant tumors, and the relevant literature was reviewed. Results: The 12 MC patients included 7 females and 5 males, with a mean age of 33 years (14-54 years). Nine cases were from bone and three from soft tissue. Among the 12 MC patients, 8 patients had postoperative recurrence or metastasis, and 3 of them died of tumor recurrence or metastasis. Histologically, 12 cases of MC showed typical bidirectional differentiation.The positive rate of both NKX3.1 antibodies in MC was 12/12, NKX3.1 was focal weakly positive in only one of 12 chondrosarcomas (grade 3), 5 alveolar rhabdomyosarcomas, 5 embryonal rhabdomyosarcomas, and 5 solitary fibrous tumors, respectively. The remaining 70 cases of other small round cell malignant tumors were negative. The positive rates of NKX2.2 in MC, Ewing sarcoma and olfactory neuroblastoma were 12/12, 15/15 and 4/5, respectively. In 12 cases of chondrosarcoma (grade 3), 5 cases of poorly differentiated synovial sarcoma, 5 cases of alveolar rhabdomyosarcoma, and 5 cases of solitary fibrous tumor, NKX2.2 was focally and weakly positive in only one case, respectively, and all the remaining 50 cases of other small round cell malignant tumors were negative. Conclusions: The expression of NKX3.1 and NKX2.2 proteins are significant indicators in the diagnosis of MC, and the combined detection of NKX3.1 and NKX2.2 can help distinguish MC from most other small round cell malignant tumors.

Anaplasia in childhood rhabdomyosarcoma: An under reported entity.

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. Anaplasia is a rare phenomenon seen in childhood RMS. The most common histologic subtype was Embryonal followed by Alveolar and spindle subtype. A total of 11 cases of pediatric RMS were selected from January 2017 to June 2019 presenting at various sites. Out of 11 cases, 2 were further diagnosed as Embryonal, 2 as Alveolar, 2 as Pleomorphic, 1 as Spindle subtype and rest 4 as RMS-NOS based on morphology. All cases were positive for Desmin. The presence of cells with lobated, hyperchromatic nuclei at least three times larger than the tumor cell (anaplastic cells) was selected as the main criterion to diagnose Anaplasia. Out of the total 11 cases, anaplasia was seen in 7 cases. Out of these seven, five cases showed Focal Anaplasia (FA) (71.4%) and 2 cases showed Diffuse Anaplasia (DA) (28.6%). Out of 2 cases of Embryonal RMS one exhibited focal anaplasia (50%). One case of Spindle RMS showed diffuse anaplasia, 2 cases of pleomorphic RMS showed focal anaplasia. Out of 3 cases of RMS- NOS, 2 exhibited focal anaplaisa and one displayed Diffuse anaplasia. Both Alveolar RMS had no features of anaplasia. Presence of Anaplasia is a frequent observation in pediatric RMS. Anaplasia is often under reported in pediatric RMS. Pathologist should be more aware of this rare phenomenon.

Rare tumours of the bladder: A Saudi registry based descriptive study

ObjectiveThere is limited literature focusing on the characteristics and behaviours of bladder tumours outside of the common three morphologies, that is, urothelial carcinoma, squamous cell carcinoma, and adenocarcinoma. The presented study provides a descriptive analysis of rare bladder tumours in KSA. MethodsThis retrospective cohort study included all patients with a primary rare bladder tumour between 1 January 2008 and 31 December 2017. The data were acquired from the Saudi Tumour Registry. Frequencies and percentages were then generated for the categorical variables, while means and standard deviations were calculated for quantitative variables. ResultsThe study included 65 patients. The majority (n = 35, 53.8%) were aged 60 years and older. The patients were predominantly male (n = 53, 81.5%) and the majority lived in the Western region (n = 26, 40.?%). The most diagnosed tumour morphologies were small cell carcinoma in adults (n = 11, 16.9%) and embryonal rhabdomyosarcoma in children (n = 14, 21.5%), with the dominant diagnosis method being histology of primary tumour in 98.5% of the patients. Most tumours were localised (n = 30, 46.2%) and multifocal (n = 34, 52.3%). The overall mortality rate was 24.6%, with an overall diagnosis to death interval of 1.14 ± 0.75 years wherein small cell carcinoma was the shortest (0.84 ± 0.24) days. ConclusionThere remains a gap in the literature regarding uncommon urologic tumours. Shedding light on these factors will aid in further understanding the patterns of tumour behaviour in the region. This will facilitate enhanced risk-and response-based screening strategies and more favourable outcomes. Additionally, formulating a global registry for such patients is recommended.

NanoString Digital Molecular Profiling of Protein and microRNA in Rhabdomyosarcoma.

Simple SummaryNanoString digital profiling methods are novel techniques to identify biologic markers from human formalin-fixed, paraffin-embedded cancer tissue. We have applied NanoString Digital spatial profiling and microRNA profiling methods in non-alveolar rhabdomyosarcoma, a common soft tissue tumor in young adults and children with variable prognosis. Our results have highlighted aberrant miRNA expression and over-expression of several members of PI3-AKT, MAPK and apoptosis signaling pathways in fusion-negative rhabdomyosarcoma, particularly in tumors with unfavorable prognosis. INPP4B, an entry molecule in the PI3/AKT pathway, was significantly over-expressed in tumors with poor prognosis, confirmed by traditional immunohistochemistry. Several microRNAs had increased expression in association with poor patient prognosis. These results highlight the utility of NanoString digital profiling as a screening method to identify prognostic biomarkers of interest in rhabdomyosarcoma from formalin-fixed paraffin-embedded tissue.Purpose: Rhabdomyosarcoma (RMS) exhibits a complex prognostic algorithm based on histologic, biologic and clinical parameters. The embryonal (ERMS) and spindle cell-sclerosing RMS (SRMS) histologic subtypes warrant further studies due to their heterogenous genetic background and variable clinical behavior. NanoString digital profiling methods have been previously highlighted as robust novel methods to detect protein and microRNA expression in several cancers but not in RMS. Methods/Patients: To identify prognostic biomarkers, we categorized 12 ERMS and SRMS tumor cases into adverse (n = 5) or favorable (n = 7) prognosis groups and analyzed their signaling pathways and microRNA profiles. The digital spatial profiling of protein and microRNA analysis was performed on formalin-fixed, paraffin-embedded (FFPE) tumor tissue using NanoString technology. Results: The detectable expression of several component members of the PI3K/AKT, MAPK and apoptosis signaling pathways was highlighted in RMS, including INPP4B, Pan-AKT, MET, Pan-RAS, EGFR, phospho-p90 RSK, p44/42 ERK1/2, BAD, BCL-XL, cleaved caspase-9, NF1, PARP and p53. Compared to cases with favorable prognosis, the adverse-prognosis tumor samples had significantly increased expression of INPP4B, which was confirmed with traditional immunohistochemistry. The analysis of microRNA profiles revealed that, out of 798 microRNAs assessed, 228 were overexpressed and 134 downregulated in the adverse prognosis group. Significant over-expression of oncogenic/tumor suppressor miR-3144-3p, miR-612, miR-302d-3p, miR-421, miR-548ar-5p and miR-548y (p < 0.05) was noted in the adverse prognosis group. Conclusion: This study highlights the utility of NanoString digital profiling methods in RMS, where it can detect distinct molecular signatures with the expression of signaling pathways and microRNAs from FFPE tumor tissue that may help identify prognostic biomarkers of interest. The overexpression of INPP4B and miR-3144-3p, miR-612, miR-302d-3p, miR-421, miR-548y and miR-548ar-5p may be associated with worse overall survival in ERMS and SRMS.

An Integrative Morphologic and Molecular Approach for Diagnosis and Subclassification of Rhabdomyosarcoma.

Rhabdomyosarcoma, the most common soft tissue sarcoma of children, is currently classified into the following 4 subtypes: embryonal rhabdomyosarcoma, alveolar rhabdomyosarcoma, spindle cell/sclerosing rhabdomyosarcoma, and pleomorphic rhabdomyosarcoma, based on recent molecular genetic knowledge and morphologic features. To highlight the most recent advances of molecular genetic alterations, and to familiarize pathologists with most recent genotype and phenotype correlation in rhabdomyosarcoma. Data were derived from the World Health Organization Classification of Soft Tissue and Bone Tumors, fifth edition, recently published literature (PubMed), and clinical practice experience. Current classification has been significantly impacted by genotype and phenotype correlation, especially with PAX-FOXO1 fusion-positive rhabdomyosarcoma versus fusion-negative rhabdomyosarcoma, and with the emergence of 3 distinct new subtypes of spindle cell/sclerosing rhabdomyosarcoma. Although all rhabdomyosarcomas were considered a single diagnostic entity in the past, they are now considered to be a group of histologically similar but biologically diverse entities because their clinical behavior and underlying molecular alterations dramatically differ. This review outlines recent molecular genetic developments, corresponding morphologic features, and current challenges faced by pathologists in daily practice.

Heparanase-1 is downregulated in chemoradiotherapy orbital rhabdomyosarcoma and relates with tumor growth as well as angiogenesis.

To determine the role of heparanase-1 (HPSE-1) in orbital rhabdomyosarcoma (RMS), and to investigate the feasibility of HPSE-1 targeted therapy for RMS. Immunohistochemistry was performed to analyze HPSE-1 expression in 51 cases of orbital RMS patients (including 28 cases of embryonal RMS and 23 cases of alveolar RMS), among whom there were 27 treated and 24 untreated with preoperative chemoradiotherapy. In vitro, studies were conducted to examine the effect of HPSE-1 silencing on RMS cell proliferation and tube formation of human umbilical vein endothelial cells (HUVECs). RD cells (an RMS cell line) and HUVECs were infected with HPSE-1 shRNA lentivirus at a multiplicity of infection (MOI) of 10 and 30 separately. Real-time PCR and Western blot were applied to detect the mRNA and protein expression levels of HPSE-1. Cell viability of treated or control RD cells was evaluated by cell counting kit-8 (CCK-8) assay. Matrigel tube formation assay was used to evaluate the effect of HPSE-1 RNAi on the tube formation of HUVECs. Immunohistochemistry showed that the expression rate of HPSE-1 protein was 92.9% in orbital embryonal RMS and 91.3% in orbital alveolar RMS. Tissue from alveolar orbital RMS did not show relatively stronger staining than that from the embryonal orbital RMS. However, despite the types of RMS, comparing the cases treated chemoradiotherapy with those untreated, we have observed that chemoradiotherapy resulted in weaker staining in patients' tissues. The expression levels of HPSE-1 declined significantly in both the mRNA and protein levels in HPSE-1 shRNA transfected RD cells. The CCK-8 assay showed that lentivirus-mediated HPSE-1 silencing resulted in significantly reduced RD cells viability in vitro. Silencing HPSE-1 expression also inhibited VEGF-induced tube formation of HUVECs in Matrigel. HPSE-1 silencing may be a promising therapy for the inhibition of orbital RMS progression.

Speech and swallowing function following microsurgical reconstruction of palatal defects in a series of six pediatric patients.

Reconstruction of extensive palatal defects in growing patients aims to restore speech intelligibility and swallowing function while avoiding excessive scarring formation that may cause growth disturbances in the palate and midface region. Free flaps transfer healthy, well-vascularized tissue to the defect area, and their combination with pharyngeal flaps allow for restoration of the velopharyngeal function. We examined speech and swallowing after microsurgical palate reconstruction in a series of six pediatric patients. Radial forearm free flaps were used in all cases, in combination with a superiorly based pharyngeal flap in five cases. Mean age at surgery was 10.7 years. Etiologies included recurrent oronasal fistula due to failed primary cleft palate repair (n=4), embryonal rhabdomyosarcoma of the maxilla (n=1), and inflammatory fibrous hyperplasia (n=1). Speech evaluations (with the Hirose standard and listener ratings) and swallowing assessments (based on videofluoroscopy swallowing studies and patient-reported swallowing and diet) were performed in average 44 months postoperatively. All flaps survived without major postoperative complications. Speech intelligibility was graded as "excellent" in four patients and "moderate" in two. Hypernasality and nasal obstruction were each judged as "none/minimal" in five cases and "moderate" in one case. All patients tolerated oral diet without significant nasal regurgitation. In five of six patients, the swallowing assessment showed good motion and velopharyngeal closure. Microsurgical reconstruction of extensive palatal defects using radial forearm free flap, with or without a superiorly based pharyngeal flap, is a reliable technique that can deliver substantial improvement of speech and swallowing in pediatric patients.

A Grasp-Like Vaginal Lesion in a 15-Months-Old Child: A Case Report

ABSTRACT Introduction and importance: Rhabdomyosarcoma is the most common pediatric soft tissue sarcoma. It constitutes 4 – 6% of all malignancies in childhood. The botryoid variant is a type of ERMS that is the most common malignancy in the pediatric female genitourinary tract. ERMS of the vagina usually occurs in early childhood, whereas ERMS of the uterus occurs later in age. Since 1959, only 7 cases of uterine botryoid ERMS during infancy have been reported. Case presentation: A 15-months-old girl was admitted to our ED for three reddish, smooth, glistening, polypoidal masses protruding from her vaginal introitus for 9 days. The lesions had a suspicious “grape-like” appearance and tended to come in and out through the vaginal ostium. A pelvic US examination on the patient showed an inhomogeneous aspect of the uterus, which appeared to be occupied and stretched out by an iso-hypoechogenic solid tissue. Additionally, there were some hyperechogenic spots inside as well as evidence of vascular signals on color doppler. A surgical biopsy revealed a malignant mesenchymal tumor consistent with the diagnosis of embryonal rhabdomyosarcoma (ERMS), botryoid variant. Clinical Discussion: The patient completed her first cycle of chemotherapy with ifosfamide, vincristine, and dactinomycin (IVA). When she was 18 months old, she underwent a hysterectomy, which removed the entire mass with a Pfannenstiel approach. The postoperative course presented with no complications. Follow-up visits were scheduled quarterly. Conclusion: Botryoid ERMS of the uterus is a diagnosis not to be missed in an infant. Since rapid diagnosis and treatment are necessary, clinicians should be aware of its presentation to assure optimal management. Highlights:

Embryonal Rhabdomyosarcoma: A Tale of Two Cases with Unusual Presentation

Rhabdomyosarcoma (RMS) is a rare soft tissue tumour, accounting for 3% of all childhood cancers. RMS can arise virtually anywhere in the body as it originates in embryonal mesenchyme. Embryonal Rhabdomyosarcoma (ERMS) and Alveolar Rhabdomyosarcoma (ARMS) are the most prevalent subtypes of RMS but arise through diverse biological mechanisms. RMS generally presents as an expanding mass that tends to be very painful and causes symptoms related to the compression of structures present nearby. Metastases of such tumours are common and can occur in bone, lungs and other organs leading to pain, difficulty with respiration, pleural effusion, anaemia, thrombocytopenia, and neutropenia. In this article, two unusual presentations of ERMS have been reported. First case is of a 28-year-old adult male who presented in surgical Out Patient Department (OPD) with recurrent episodes of painful acute urinary retention since one year. Another case was of a six-year-old girl presenting with aural fullness and serosanginous discharge from right ear, ear pain and decreased hearing since two years. Since five year survival rate of such tumour is less than 30%, therefore, an awareness of the typical signs and symptoms, radiological features, histomorphological features in a case of paediatric and adult ERMS can help a pathologist to consider this tumour in the differential diagnoses, even at unusual sites.

Single Nuclear RNA Sequencing Highlights Intra-Tumoral Heterogeneity and Tumor Microenvironment Complexity in Testicular Embryonic Rhabdomyosarcoma.

BackgroundTesticular embryonic rhabdomyosarcoma (ERMS) is a rare soft tissue tumor in children featured with high intra-tumoral heterogeneity. In this study, we aimed to comprehensively delineate the testicular ERMS intra-tumoral heterogeneity and tumor microenvironment.MethodsCell types and the corresponding marker genes were identified by single-nuclear RNA sequencing (snRNA-seq). Functional states of different clusters were evaluated by uniform manifold approximation and projection and differentially expressed genes. Kaplan–Meier curve analysis was constructed according to the gene expression profile to determine the correlation between candidate marker genes and the overall survival and disease-free survival of patients with osteosarcoma from TCGA.ResultsA total of 8868 tumor cells and 10,147 normal cells were obtained from testicular ERMS tissues. The heterogeneous malignant subtype was composed of six subgroups (C1–C6) with differential proliferative and migratory potentials. Cell trajectory analysis revealed the C1 subgroup might be the starting cells of the tumor and transform into two different types of malignant cells, C2 and C5/6, during the development of RMS. The differentially expressed genes were closely related to cell adhesion and extracellular matrix signaling pathways. Furthermore, the interaction analysis between cell subgroups (macrophages and tumor cells, endothelial cells and tumor cells) demonstrated that collagen-related gene COL6A1 plays a key role from the initiation of ERMS to the entire process of malignant transformation.ConclusionOur findings provide a new insight in the understanding of the initiation and progression of testicular ERMS and have potential value in the development of markers for the diagnosis and stratification of testicular ERMS.

Rhabdomyosarcoma in Dakar: An Update on Pronostics Factors

Rhabdomyosarcoma (RMS) belongs to the soft tissue sarcomas that have striated muscle differentiation. It is most common in young children under 5 years of age and adolescents. The definite diagnosis of rhabdomyosarcoma is based on histology and the positivity of striated muscle markers in immunohistochemistry. Our objective was to describe the prognostic characteristics of RMS diagnosed in Dakar. MATERIAL AND METHODS: This was a retrospective and descriptive study spread over nine (09) years from 1 January 2011 to 31 December 2019. It was conducted from the histological report archives of the anatomy and pathology laboratories of Dakar. Paraffin blocks were reread and immunohistochemically studied by manual method. Antidesmin and antimyogenin antibodies were used. RESULTS: We collected 44 patients with rhabdomyosarcoma out of 228 cases of soft tissue cancers, i.e. 19.29% of all malignant soft tissue tumours. The mean age of the patients was 25.41 ± 23.95 (standard deviation) years with a median age of 16 years and extremes of 6 months and 81 years. Patients were less than or equal to 17 years of age in 61.4% of cases. A clear male predominance was observed with 29 men (65.9%) against 15 women (34.1%). Rhabdomyosarcomas were located in the limbs in 34.1% of cases, in the head and neck in 29.5% of cases and in the genitourinary tract in 25% of cases. The average tumour size was 7.45 cm ± 4.64 (standard deviation) with a minimum of 2 cm and a maximum of 17 cm. It was greater than or equal to 5 cm in 15 patients (68.2%). Embryonal rhabdomyosarcoma (ERMS) was the most frequent histological type with 34 cases (77.3%), followed by pleomorphic rhabdomyosarcoma 7 cases (15.9%) and alveolar rhabdomyosarcoma 3 cases (6.8%). The histological subtypes of ERMS consisted of conventional ERMS (91.18%); botryoid RMS (5.88%) and spindle cell RMS (2.94%). The correlation between histological type and age was statistically significant (p = 0.039). A relationship was also observed between histological type and site (p = 0.026). According to the American IRS classification, the tumour was classified as group I in 41% of cases, group II in 50% of cases and groups III and IV in 4.5% each. CONCLUSION: Rhabdomyosarcoma is a rare malignant tumour in Dakar. It is often a voluminous tumour of the limbs which affects mainly males. The embryonal type is the most frequent histological form.

Therapy and Prognostic Significance of Regional Lymph Node Involvement in Embryonal Rhabdomyosarcoma: A Report from the European Paediatric Soft Tissue Sarcoma Study Group

Therapy and Prognostic Significance of Regional Lymph Node Involvement in Embryonal Rhabdomyosarcoma: A Report from the European Paediatric Soft Tissue Sarcoma Study Group

Paratesticular Embryonal Rhabdomyosarcoma (RMSE-PT): A Case Study in the Surgery Department of the Regional Hospital of Ziguinchor (Senegal)

<i>Introduction:</i> Paratesticular embryonal rhabdomyosarcoma (RMSE-PT) is a rare and aggressive malignant mesenchymal tumor developed at the expense of connective tissue, representing approximately 7% of all rhabdomyosarcomas. Embryonic and alveolar histological types are most common in children, the pleomorphic type occurs exclusively in adults, and the prognosis is poor. The treatment method consists of tumor resection surgery, radiotherapy, and/or adjuvant chemotherapy. Here, we report a case of paratesticular embryonal rhabdomyosarcoma in a 3-year-old child. Through this observation, we discuss the diagnostic and therapeutic. <i>Methods:</i> In this report, our patient was a 3-year-old child with a large, painless right purse that had evolved over four months and was gradually increasing in volume. Physical examination detected a right scrotal mass, hard, painless, necrotic, suggestive of gangrene, while the left testicle was palpated at the bottom of the bursa, of normal appearance. The diagnosis revealed scrotal gangrene. <i>Results:</i> During the surgery, a large inguinoscrotal tumor was realized, and the realization of a right orchidectomy by the scrotal way with complete excision and dissection of an inguinal lymph node was finally made. The tumor markers (beta-human chorionic gonadotropin and alpha-fetoprotein) were negative, except for lactate dehydrogenase (LDH), which was increased. The surgical specimen's immunohistochemistry revealed an embryonic rhabdomyosarcoma invading the spermatic cord. The ultrasound revealed a tumor mass in the right testis. Computed tomography performed one month after surgery was normal. <i>Conclusions:</i> The care is multidisciplinary, combining surgery, polychemotherapy, and radiotherapy. The rarity of the clinical and the delay in diagnosis were the aggravating factors in the prognosis of our patient.

Primary Sarcoma of the Head and Neck: Three Years’ Experience in a Tertiary Care Cancer Center

Introduction Sarcomas are a heterogeneous group of malignancies originating from the transformed cells of mesenchymal lineage, representing only 1% of all the primary tumors arising within the head and neck region with a prevalence range of 4 to 10%. They are biologically different from the sarcomas of other sites because of the smaller size of the tumor at the time of presentation and higher chances of local recurrences. Due to the rarity in adults, there are very few studies on sarcomas of the head and neck. The aim of this study was to analyze the frequency and spectrum of primary sarcomas in the head and neck region. Materials and Methods This is a retrospective descriptive study. The authors analyzed 40 cases of histologically and immunohistochemically proven primary sarcomas arising in the head and neck region according to three age groups, pediatric (&lt;12 years), adolescent (12–19 years), and adults (&gt; 19 years). Results Primary sarcomas represented 0.06% and 2.4% of total cancer cases and total sarcoma cases, respectively. Embryonal rhabdomyosarcoma was the most common histologic type, and nasopharynx the most common location in the pediatric population. Osteoblastic osteosarcomas and Ewing’s sarcoma were typical variants in adolescent age, affecting the hemimandible predominantly. In adults, osteosarcomas were commonest followed by conventional grade 1 chondrosarcoma. Treatment was planned according to the stage and grade of the tumor. Out of the 40 patients, 19 (47.5%) had a disease relapse within a period of 6 months from the completion of therapy. Conclusion Head and neck sarcomas are notorious to recur. A timely and accurate diagnosis, proper staging, and multidisciplinary treatment plan can yield good patient outcomes.

Management of Testicular Germ Cell Tumor With Somatic-Type Malignancy.

A man, aged 21 years, presented with a 4-month history of progressive swelling of the right testicle. Ultrasound revealed a heterogenous solid mass in the right testicle suspicious for malignancy. Further work-up included CT scans, which identified a 2-cm retroperitoneal lymph node; there was no evidence of thoracic metastases. Serum tumor markers revealed a mildly elevated α-fetoprotein (AFP) and normal lactate dehydrogenase (LDH) and human chorionic gonadotropin (hCG). The patient underwent right radical inguinal orchiectomy. Pathology evaluation demonstrated 1% teratoma with extensive secondary somatic-type malignant components of embryonal rhabdomyosarcoma and chondrosarcoma. No lymphovascular invasion was identified. Repeat tumor markers showed normal AFP, LDH, and hCG. Follow-up short-interval CT scans confirmed a dominant 2-cm interaortocaval lymph node with no evidence of distant metastases. The patient underwent retroperitoneal lymph node dissection, which revealed 1 of 24 lymph nodes positive for similar somatic-type malignancy composed of rhabdomyosarcoma and chondrosarcoma as well as undifferentiated spindle cell sarcoma with extranodal extension. Immunohistochemistry revealed that tumor cells were positive for myogenin and desmin and negative for SALL4.

Malignant Ectomesenchymoma of Pelvis in an Infant

Malignant ectomesenchymoma is a rare pediatric soft tissue tumor that contains both neuroectodermal and mesenchymal components. It is frequently found in the pelvis, paratesticular soft tissue, external genitalia and the head-neck region. We present a 12-month-old boy with a recurrent pelvic tumor excised 5 months ago and diagnosed as neuroblastoma. Histological consultation of the initial tumor tissue revealed a biphasic pattern with rhabdomyosarcomatous and neural components. The mesenchymal component was embryonal rhabdomyosarcoma showing desmin, myogenin, and Myo-D1 positivity. The neuroectodermal component was mainly Schwannian stroma stained with S100 antibody and scattered synaptophysin and chromogranin positive ganglion cells were also present. The patient was diagnosed with malignant ectomesenchymoma. A chemotherapy regime was started and surgical approach to the recurrent tumor was planned. We present here a pediatric case of malignant ectomesenchymoma because of its rarity and it is important that this entity should be considered in the differential diagnosis for appropriate clinical management.

Patients with Embryonal Rhabdomyosarcoma Completely Resected at Diagnosis: An International Analysis

Patients with Embryonal Rhabdomyosarcoma Completely Resected at Diagnosis: An International Analysis

Preauricular lymphadenopathy in a pediatric patient: A diagnostic pitfall

The authors present the case of a 1 year and 7 months old girl, with no medical history, initially diagnosed with left preauricular adenopathy, which increased in volume progressively, despite 12 days of antibiotic therapy. This report presents the causes of latero-cervical adenopathy and the main tumor etiologies with preauricular and parotid localization. The clinical case presented a challenge in clarifying the final diagnosis – high-risk embryonal rhabdomyosarcoma.

Epidemiological And Histopathologic Study Of Rhabdomyosarcoma cases in a tertiary Care hospital of Peshawar

&#x0D; Aim: This study aimed to find out rhabdomyosarcoma’s (RMS) histopathological and immunohistochemical features. Settings: The current study was carried out at the Department of Pathology, Section of Histopathology, Khyber Teaching Hospital Peshawar. The study duration was between from 1st January 2015 to 30th of December 2020. Results: In the current study, all the 300 occurrences were found to be relevant. The most prevalent rhabdomyosarcoma was embryonal rhabdomyosarcoma (ERMS) (87.4%), followed by alveolar rhabdomyosarcoma (ARMS) (9.4%). In the current study we found that embryonal rhabdomyosarcomas was most frequent in males (64%). ERMS were 16.1 percent found in the genitourinary system followed by neck and head region (46.7%). Most samples displayed positive Desmin and MyoD1 immunohistochemistry staining. Conclusions: It is consistent with previously published rhabdomyosarcoma data from all across the globe that our patients' epidemiologic information and microscopic findings are consistent with one other.&#x0D;