Case Of Embryonal Rhabdomyosarcoma Research Articles

Cytological diagnosis of patients with embryonal rhabdomyosarcoma of the cervix: case report and literature review

Cervical embryonal rhabdomyosarcoma(ERMS) is a rare malignancy. To date, no cases of ERMS diagnosed by cervical cytology have been reported. In this study, we report a case of cervical ERMS identified by a liquid-based cytology test and cell blocks in a 46-year-old postmenopausal woman. We describe the cytological features of ERMS, with the aim of helping cytopathologists recognize this rare cervical tumor.

Magnetic resonance imaging analysis of embryonal rhabdomyosarcoma of the prostate.

Rhabdomyosarcoma (RMS) is a highly malignant tumor that originates from myogenic progenitor cells. To investigate the magnetic resonance imaging (MRI) characteristics of prostate embryonal rhabdomyosarcoma (ERMS). We retrospectively analyzed the clinical and MRI imaging data of 9 cases of prostate ERMS that were confirmed pathologically. The patients were aged between 14∼49 years with a median age of 27 years, and they all underwent MRI, diffusion-weighted imaging (DWI), and dynamic contrast-enhanced MRI (DCE-MRI). The MRI scan of the lesions showed an irregular shape, mixed signals, uneven equal/long T1 signal and an equal/long T2 signal, cystic necrosis in 9 cases and hemorrhage in 6 cases; DWI and ADC images showed a mixed high/low signal, and the tumor parenchyma showed ADC low signal, with an average ADC value of 0.666 × 10-3 mm2/s. There were 5 cases of DCE-MRI TIC type II and 4 cases of DCE-MRI TIC type I. The average value of Tpeak was 120 s and the average value of MCER was 172.3%. After the enhancement, the signal of tumor enhancement was uneven, and showed patchy and reticular enhancement, however, the cyst degeneration, necrosis area, and hemorrhage focus were not enhanced. There were 3 cases with multiple pelvic lymph nodes and 1 case with multiple bone metastases. The MRI manifestations of prostate ERMS have certain characteristics, and the combination of DWI and DCE-MRI are helpful in the diagnosis.

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.

An Exceedingly Rare Case of Embryonal Rhabdomyosarcoma of the Liver in an Adult

An Exceedingly Rare Case of Embryonal Rhabdomyosarcoma of the Liver in an Adult

Embryonal rhabdomyosarcoma of the nasopharynx

Embryonal rhabdomyosarcoma has the second highest frequency in the head and neck region. A rare case of embryonal rhabdomyosarcoma in a 9-year-old male child involving nasopharynx with hydrocephalus is reported. The child presented with difficulty in breathing and swallowing with bleeding from nose and mouth. Local examination revealed a granular mass in the left nasal cavity. There was associated proptosis of the left eye. On probing, the mass was friable, nontender and did not bleed on touch. Posterior limit of the mass could not be assessed. Examination of throat showed smooth downward bulge of soft palate on the left side extending into the lateral wall of pharynx behind the posterior pillar of left tonsil. Examination under general anesthesia confirmed the presence and attachment of granular mass to the posterosuperior wall of the nasopharynx and filling the left choana as well. Fibrosarcoma, mucormycosis, nasal polyposis, juvenile nasal angiofibroma, and rhabdomyosarcoma of the nasopharynx were considered in the differential diagnosis. Nasal polyposis was excluded from the differentials after gating computed tomography (CT) scan report was obtained. Histopathology of the excised mass proved the diagnosis of rhabdomyosarcoma and CT scan of the brain showed communicating hydrocephalus. Treatment plan included multi-drug chemotherapy and debulking surgery. The following core competencies are addressed in this article: Medical knowledge, Patient care.

A Case of Embryonal Rhabdomyosarcoma of Cervix Uteri in a 14 Year Old Girl

A Case of Embryonal Rhabdomyosarcoma of Cervix Uteri in a 14 Year Old Girl

Characterization of Wnt/β-catenin signaling in rhabdomyosarcoma

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and accounts for about 5% of all malignant paediatric tumours. β-Catenin, a multifunctional nuclear transcription factor in the canonical Wnt signaling pathway, is active in myogenesis and embryonal somite patterning. Dysregulation of Wnt signaling facilitates tumour invasion and metastasis. This study characterizes Wnt/β-catenin signaling and functional activity in paediatric embryonal and alveolar RMS. Immunohistochemical assessment of paraffin-embedded tissues from 44 RMS showed β-catenin expression in 26 cases with cytoplasmic/membranous expression in 9/14 cases of alveolar RMS, and 15/30 cases of embryonal RMS, whereas nuclear expression was only seen in 2 cases of embryonal RMS. The potential functional significance of β-catenin expression was tested in four RMS cell lines, two derived from embryonal (RD and RD18) RMS and two from alveolar (Rh4 and Rh30) RMS. Western blot analysis demonstrated the expression of Wnt-associated proteins including β-catenin, glycogen synthase kinase-3β, disheveled, axin-1, naked, LRP-6 and cadherins in all cell lines. Cell fractionation and immunofluorescence studies of the cell lines (after stimulation by human recombinant Wnt3a) showed reduced phosphorylation of β-catenin, stabilization of the active cytosolic form and nuclear translocation of β-catenin. Reporter gene assay demonstrated a T-cell factor/lymphoid-enhancing factor-mediated transactivation in these cells. In response to human recombinant Wnt3a, the alveolar RMS cells showed a significant decrease in proliferation rate and induction of myogenic differentiation (myogenin, MyoD1 and myf5). These data indicate that the central regulatory components of canonical Wnt/β-catenin signaling are expressed and that this pathway is functionally active in a significant subset of RMS tumours and might represent a novel therapeutic target.

Effect of insulin-like growth factor 2 gene expression on pleuropulmonary blastoma and embryonal rhabdomyosarcoma.

9564 Background: The sarcomatous element in pleuropulmonary blastoma (PPB) often cannot be differentiated from embryonal rhabdomyosarcoma (ERMS) by histology, particularly when characteristic elements like cartilage and respiratory mucosa are inapparent. The initial diagnosis is often ERMS. A diagnosis of PPB is based on a combination of clinical (age, location) and pathologic features. We hypothesized that the sarcomatous portions of PPB are a form of ERMS indistinguishable from typical ERMS. We reasoned that a detailed comparison of RNA expression could clarify this hypothesis. Methods: Samples from 7 PPB patients were obtained from the rhabdomyosarcomatous portion of the tumor by macro-dissection after pathologic review of all material. Representative ERMS tumor tissue was selected from 21 ERMS cases. FFPE tissue scrolls from each case were analyzed using Affymetrix Human Exon arrays after RNA extraction with Agincourt Formapure extraction kit and amplification using the NuGEN Ovation FFPE WTA kit and labeling with the Encore Biotin Module. Data analysis utilized Partek and Genetrix software. Results: All PPB cases and 7 of 21 ERMS cases were < 4 years old. 20 transcripts (10 annotated, 10 non-coding RNAs) were significantly differentially expressed in ERMS when compared to PPB patients. Insulin-like growth factor 2 (IGF2) was uniformly overexpressed in ERMS (19/21 > 200) but was expressed at low levels in PPB (p<0.001). 2 ERMS cases which had low level IGF2 expression were < 4 years of age. Expression in the other 5 ERMS aged <4 years was similar to ERMS overall (range, 500-2,000). No other differences between the two approached this degree of significance, despite a common rhabdomyogenic phenotype in the sarcomatous areas of PPB. Conclusions: We conclude that PPB is a distinct entity from most ERMS, and is not driven by IGF2 signaling. Rare cases of ERMS in the very young are more similar to PPB than common ERMS. This observation is highly significant, as IGF2 is known to drive growth in ERMS, generally related to demethylation secondary to LOH of 11p.

A case of embryonal rhabdomyosarcoma of the uterine cervix in a middle-aged woman

Embryonal rhabdomyosarcoma (RMS) of the cervix is rare and most commonly occurs in the late teens and early 20s. We report a case of cervical embryonal RMS in a 52-year-old woman. This patient presented with an abnormal vaginal bleeding for 2 months and a mass protruding from the introitus, measuring 7 × 6 cm. She underwent radical abdominal hysterectomy with bilateral pelvic lymph node dissection and radical vaginectomy. The fi pathologic result was cervical RMS, consistent with the Intergroup RMS study group IIC. Immunohistochemistry was positive for desmin, myogenin, and myogenic diffentiation 1. The patient received conservative management in a convalescent hospital without adjuvant treatment due to cerebral hemorrhage and relapsed septic condition after surgery.

18 F-FDG avid lesion due to coexistent fibrous dysplasia in a child of embryonal rhabdomyosarcoma: Source of false positive FDG-PET

With increasing use of 18 F-fluorodeoxyglucose (FDG)-positron emission tomography (PET) in the current oncological practice, there is a growing body of evidence of false positive scans due to various benign conditions. In this communication we present intensely avid 18 F-FDG uptake in fibrous dysplasia of right tibia in a 12-year-old child suffering from embryonal rhabdomyosarcoma (ERMS) that could have been easily mistaken to be a metastatic focus if not carefully correlated. The patient was a case of ERMS (presenting with left cervical mass with intrathoracic extension) who was treated successfully with chemotherapy and was referred for FDG-PET to evaluate the disease status. His whole body survey was unremarkable except for an intensely avid FDG uptake (SUV max 8.5) in shaft of right tibia. The scan was extended up to foot in view of the fact that a prior bone scan had shown a focal uptake in the similar location. Efforts were undertaken to elucidate the exact etiopathology of the aforementioned 18 F-FDG uptake because the rest of the whole body survey was unremarkable. A plain radiograph (both anteroposterior and lateral views) of the right tibia showed patchy sclerosis involving the middle diaphysis of the right tibia suggesting a fibrous defect. The computed tomography (CT) scan of the same region showed cortical thickening and increased density within the medullary cavity in the shaft of the tibia. A histopathological diagnosis was sought for and the lesion was subsequently proven to be fibrous dysplasia by histopathology of the bone piece obtained from the right tibial lesion by J needle biopsy. The present case is a useful addition to the current body of literature of false positive 18 F-FDG-PET study due to a benign skeletal pathology and underscores the importance of high index of suspicion and careful clinicoradiopathologic correlation, whenever one comes across such an unusual PET finding.

Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma

Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma and rarely occurs in adults. There are six main subtypes, each histologically, clinically, and cytogenetically distinct. Embryonal RMS is characterized by chromosomal gains, usually not associated with any consistent structural anomaly. We describe here a case of embryonal RMS in a 19-year-old female patient. The conventional cytogenetic analysis showed a t(4;22)(q35;q12) translocation as the sole cytogenetic change. Complementary fluorescence in situ hybridization analysis showed that the translocation breakpoints were located in the EWSR1 gene at 22q12 and the region of the DUX4 and FSHMD1A at 4q35. This constitutes a novel example of the high frequency of EWSR1 rearrangements in various types of sarcomas as well as of its ability to fuse with a large variety of partner genes. Because DUX4 is involved in myogenic differentiation and cell-cycle control, the striated muscle differentiation observed in the present case might be a direct consequence of the alteration of the DUX4 region generated by the t(4;22). The involvement of the DUX4 region might represent the genetic hallmark of a novel subclass of small round cell tumors.

Intranuclear cytoplasmic inclusions—An extremely unusual finding in embryonal rhabdomyosarcoma: Report of a case diagnosed by fine‐needle aspiration biopsy

Embryonal rhabdomyosarcoma (ERMS) is one of the commonest childhood tumors that usually presents as a small round cell tumor (SRCT). We report a case of an ERMS expressing frequent and prominent intranuclear cytoplasmic inclusions (INCIs). Our patient was a 3-year-old female child who presented with proptosis of the left eye with left sided cervical lymphadenopathy. Fine-needle aspiration (FNA) smears from both the orbital lesion and the cervical lymph nodes were cellular with features of a small round cell tumor (SRCT). The most striking cytologic feature observed was the presence of frequent and highly prominent INCIs. Despite the diagnostic dilemma caused by this unusual finding, a differential diagnosis of peripheral neurectodermal tumor (PNET) /Ewing's sarcoma, neuroblastoma, and ERMS was considered. Immunocytochemistry (ICC), using an appropriate panel of markers showed it to be a case of ERMS. Interestingly, though, not as frequent as on cytologic smears; INCIs could be appreciated even on biopsy material. INCIs in an ERMS are highly unusual and, to our knowledge, have not been documented so far. As a result of lack of any such cases in the literature, at present, the significance of this unique finding is not clear, and therefore needs to be investigated, as and when such cases are encountered in the future.

Translocation (2;8)(q35;q13): a recurrent abnormality in congenital embryonal rhabdomyosarcoma

We report a case of congenital embryonal rhabdomyosarcoma (ERMS), a rare form of rhabdomyosarcoma, featuring a karyotype with a t(2;8)(q35;q13) in a 2-week-old male infant. This is the third reported case of congenital ERMS with cytogenetic findings. The previous cases also showed a similar or possibly identical translocation. We postulate that the t(2;8)(q35;q13) is a specific abnormality in congenital ERMS, and that it involves the PAX3 gene at 2q35 and a non-yet identified gene at 8q13.

Embryonal rhabdomyosarcoma of the chest wall: A case report and review of the literature

Embryonal rhabdomyosarcoma is a soft-tissue sarcoma which has a predilection for the head and neck area, genitourinary tract and the extremities. We report a rare case of embryonal rhabdomyosarcoma of the chest wall in an 8-year-old girl, presenting as a destructive tumor in the rib and clinically and radiologically mimicking Ewing's sarcoma. Histopathological examination showed a small round cell tumor. Immunohistochemically, the positivity for muscle markers desmin and myogenin in the tumor cells proved to be useful for making a definitive diagnosis of embryonal rhabdomyosarcoma. Cytogenetic analysis revealed a high level of aneuploidy in the tumor cells, with double-minutes and additional chromosomal structural aberrations. The patient is responding well to chemotherapy.

Embryonal rhabdomyosarcoma of adult nasopharynx

Adult rhabdomyosarcomas in the head and neck are extremely rare and carry a poor prognosis. They should be considered as a distinct clinical entity. The authors report a case of embryonal rhabdomyosarcoma in an adult nasopharynx treated with a combined modality treatment of chemotherapy and radiotherapy as per the European International Society of Paediatric Oncology (SIOP) MMT 89 study, group D. The patient responded to treatment and 10 years later, he is still alive with no signs of metastatic disease.

Two Cases of Embryonal Rhabdomyosarcoma of the Uterine Cervix

Rhabdomyosarcoma is the most common soft tissue sarcoma in childhood and young adult. Genitourinary tract is the second most common site of rhabdomyosarcoma. Rhabdomyosarcoma can be classified into one of four major types; embryonal, alveolar, pleomorphic and undifferentiated. Embryonal rhabdomyosarcoma of the female genital tract is rare malignant tumor and usually occurs during childhood in the vagina. In rare cases, rhabdomyosarcoma can originate in the uterine cervix with a peak incidence in the second decade. Recently we have experienced two cases of embryonal rhabdomyosarcoma of the uterine cervix. These cases are presented with a brief review of the literature.

A Case of Embryonal Rhabdomyosarcoma Arising from Vaginal wall in a 5 Year Old Child

A Case of Embryonal Rhabdomyosarcoma Arising from Vaginal wall in a 5 Year Old Child

Imaging of primary rhabdomyosarcoma of the diaphragm

This is a report on a rare case of embryonal rhabdomyosarcoma involving the diaphragm in a 3-year-old boy. This case illustrates the importance of preoperative imaging in the management of this tumor.

Rhabdomyosarcoma in a child with massive pleural effusion: Cytological diagnosis from pleural fluid

We report on a case of embryonal rhabdomyosarcoma in an 11-yr-old boy investigated for mild chest pain after trauma. Chest radiography showed a massive right pleural effusion. Cytological analysis of the pleural fluid demonstrated the presence of malignant small undifferentiated cells. The rhabdomyoblastic nature of the cells was confirmed by positive immunostains of HHf35 actin, desmin, and skeletal muscle myosin; histological examination of a core biopsy confirmed the diagnosis of rhabdomyosarcoma. Computed tomography and gallium scan revealed the presence of an extensive anterior and lower chest wall mass involving the mediastinum, as well as retroperitoneal lymphadenopathy. Massive pleural effusion is a frequent presentation in malignant disease, but is rare in rhabdomyosarcoma. The immunochemical stain studies performed on cytological smears in this case proved to be very useful for making the definitive and accurate diagnosis. Diagn. Cytopathol. 1999;21:125–128. © 1999 Wiley-Liss, Inc.

Case Report: Microtubular Aggregates within the Rough Endoplasmic Reticulum of Embryonal Rhabdomyosarcoma Cells: A Case Report

This study presents a case of embryonal rhabdomyosarcoma (ERMS) of the forearm soft tissue in a 12-year-old female, in which microtubular aggregates in rough endoplasmic reticulum (rER) were noted ultrastructurally. Histologically, tumor cells consisted of typical rhabdomyoblastoid cells with abundant eosinophilic cytoplasm and relatively immature, small tumor cells. Ultrastructurally, two different types of tumor cells were also identified by light microscopy. More than half the tumor cells possessed the characteristic features of rhabdomyoblastic differentiation, such as abundant thick and thin filaments with Z-bands. The other tumor cells were less differentiated cells in which microtubular aggregates (MA) in rER were observed. MA in rER have been described in several nonepithelial tumors, including malignant melanoma, osteosarcoma, extraskeletal myxoid chondrosarcoma, and chordoma. ERMS is another example of mesenchymal tumor in which MA in rER are observed by electron microscopy. Considering the differential diagnosis among mesenchymal tumors, it is important to know that MA can be also observed in ERMS.