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1.
Diagn Pathol ; 19(1): 98, 2024 Jul 17.
Article in English | MEDLINE | ID: mdl-39020398

ABSTRACT

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. CASE: 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. CONCLUSION: The rarity of this histological tumor entity and its aggressive behavior and poor prognosis grab attention to improving recognition and treatment modalities in adults.


Subject(s)
Biomarkers, Tumor , Immunohistochemistry , Uterine Neoplasms , Humans , Female , Aged , Uterine Neoplasms/pathology , Biomarkers, Tumor/analysis , Fatal Outcome , Rhabdomyosarcoma, Embryonal/pathology , Rhabdomyosarcoma, Embryonal/therapy , Rhabdomyosarcoma, Embryonal/diagnosis , Rhabdomyosarcoma/pathology , Rhabdomyosarcoma/diagnosis , Rhabdomyosarcoma, Alveolar/pathology , Rhabdomyosarcoma, Alveolar/therapy
2.
Diagn Pathol ; 19(1): 73, 2024 Jun 03.
Article in English | MEDLINE | ID: mdl-38831464

ABSTRACT

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.


Subject(s)
Rhabdomyosarcoma, Embryonal , Uterine Cervical Neoplasms , Humans , Female , Rhabdomyosarcoma, Embryonal/pathology , Rhabdomyosarcoma, Embryonal/diagnosis , Uterine Cervical Neoplasms/pathology , Uterine Cervical Neoplasms/diagnosis , Middle Aged , Cervix Uteri/pathology , Cytodiagnosis/methods
3.
BMJ Case Rep ; 17(6)2024 Jun 04.
Article in English | MEDLINE | ID: mdl-38834309

ABSTRACT

Rhabdomyosarcomas are the most common soft-tissue sarcomas, found usually in the younger age group. Histologically, they are subdivided into embryonal, alveolar, pleomorphic and not otherwise specified. They have a heterogenous appearance on imaging with few additional characteristic features based on the subtype. Botryoid variant of embryonal rhabdomyosarcoma commonly involves the genitourinary and the biliary system. They can be multifocal. Most of these lesions have a heterogenous appearance on imaging with areas of necrosis and haemorrhage. On ultrasound, they are polypoidal with cystic areas and are vascular. The lesions are hyperintense on T2 sequences, isointense to the skeletal muscle on T1 sequences and show heterogenous enhancement. Surgery is the mainstay of treatment along with radiotherapy or chemotherapy depending on the site and the stage of the tumour. We report a case of botryoid variant of rhabdomyosarcoma involving the vagina and the urinary bladder.


Subject(s)
Rhabdomyosarcoma, Embryonal , Urinary Bladder Neoplasms , Vaginal Neoplasms , Female , Humans , Magnetic Resonance Imaging , Rhabdomyosarcoma, Embryonal/pathology , Rhabdomyosarcoma, Embryonal/diagnosis , Rhabdomyosarcoma, Embryonal/diagnostic imaging , Rhabdomyosarcoma, Embryonal/surgery , Ultrasonography , Urinary Bladder Neoplasms/diagnostic imaging , Urinary Bladder Neoplasms/pathology , Vaginal Neoplasms/pathology , Vaginal Neoplasms/diagnostic imaging , Vaginal Neoplasms/surgery , Vaginal Neoplasms/diagnosis , Child, Preschool
5.
Transgenic Res ; 33(4): 229-241, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38851650

ABSTRACT

Rhabdomyosarcoma (RMS) is a solid tumor whose metastatic progression can be accelerated through interleukin-4 receptor alpha (Il4ra) mediated interaction with normal muscle stem cells (satellite cells). To understand the function of Il4ra in this tumor initiation phase of RMS, we conditionally deleted Il4ra in genetically-engineered RMS mouse models. Nullizygosity of Il4ra altered the latency, site and/or stage distribution of RMS tumors compared to IL4RA intact models. Primary tumor cell cultures taken from the genetically-engineered models then used in orthotopic allografts further defined the interaction of satellite cells and RMS tumor cells in the context of tumor initiation: in alveolar rhabdomyosarcoma (ARMS), satellite cell co-injection was necessary for Il4ra null tumor cells engraftment, whereas in embryonal rhabdomyosarcoma (ERMS), satellite cell co-injection decreased latency of engraftment of Il4ra wildtype tumor cells but not Il4ra null tumor cells. When refocusing on Il4ra wildtype tumors by single cell sequencing and cytokine studies, we have uncovered a putative signaling interplay of Il4 from T-lymphocytes being received by Il4ra + rhabdomyosarcoma tumor cells, which in turn express Ccl2, the ligand for Ccr2 and Ccr5. Taken together, these results suggest that mutations imposed during tumor initiation have different effects than genetic or therapeutic intervention imposed once tumors are already formed. We also propose that CCL2 and its cognate receptors CCR2 and/or CCR5 are potential therapeutic targets in Il4ra mediated RMS progression.


Subject(s)
Interleukin-4 Receptor alpha Subunit , Animals , Mice , Interleukin-4 Receptor alpha Subunit/genetics , Interleukin-4 Receptor alpha Subunit/metabolism , Rhabdomyosarcoma/genetics , Rhabdomyosarcoma/pathology , Rhabdomyosarcoma/metabolism , Humans , Satellite Cells, Skeletal Muscle/metabolism , Rhabdomyosarcoma, Alveolar/genetics , Rhabdomyosarcoma, Alveolar/pathology , Rhabdomyosarcoma, Alveolar/metabolism , Disease Models, Animal , Rhabdomyosarcoma, Embryonal/genetics , Rhabdomyosarcoma, Embryonal/pathology , Rhabdomyosarcoma, Embryonal/metabolism , Signal Transduction , Receptors, Cell Surface
6.
Genes Chromosomes Cancer ; 63(5): e23238, 2024 05.
Article in English | MEDLINE | ID: mdl-38722224

ABSTRACT

Pleomorphic rhabdomyosarcoma (PRMS) is a rare and highly aggressive sarcoma, occurring mostly in the deep soft tissues of middle-aged adults and showing a variable degree of skeletal muscle differentiation. The diagnosis is challenging as pathologic features overlap with embryonal rhabdomyosarcoma (ERMS), malignant Triton tumor, and other pleomorphic sarcomas. As recurrent genetic alterations underlying PRMS have not been described to date, ancillary molecular diagnostic testing is not useful in subclassification. Herein, we perform genomic profiling of a well-characterized cohort of 14 PRMS, compared to a control group of 23 ERMS and other pleomorphic sarcomas (undifferentiated pleomorphic sarcoma and pleomorphic liposarcoma) using clinically validated DNA-targeted Next generation sequencing (NGS) panels (MSK-IMPACT). The PRMS cohort included eight males and six females, with a median age of 53 years (range 31-76 years). Despite similar tumor mutation burdens, the genomic landscape of PRMS, with a high frequency of TP53 (79%) and RB1 (43%) alterations, stood in stark contrast to ERMS, with 4% and 0%, respectively. CDKN2A deletions were more common in PRMS (43%), compared to ERMS (13%). In contrast, ERMS harbored somatic driver mutations in the RAS pathway and loss of function mutations in BCOR, which were absent in PRMS. Copy number variations in PRMS showed multiple chromosomal arm-level changes, most commonly gains of chr17p and chr22q and loss of chr6q. Notably, gain of chr8, commonly seen in ERMS (61%) was conspicuously absent in PRMS. The genomic profiles of other pleomorphic sarcomas were overall analogous to PRMS, showing shared alterations in TP53, RB1, and CDKN2A. Overall survival and progression-free survival of PRMS were significantly worse (p < 0.0005) than that of ERMS. Our findings revealed that the molecular landscape of PRMS aligns with other adult pleomorphic sarcomas and is distinct from that of ERMS. Thus, NGS assays may be applied in select challenging cases toward a refined classification. Finally, our data corroborate the inclusion of PRMS in the therapeutic bracket of pleomorphic sarcomas, given that their clinical outcomes are comparable.


Subject(s)
Rhabdomyosarcoma, Embryonal , Humans , Male , Female , Adult , Middle Aged , Aged , Rhabdomyosarcoma, Embryonal/genetics , Rhabdomyosarcoma, Embryonal/pathology , Rhabdomyosarcoma/genetics , Rhabdomyosarcoma/pathology , Rhabdomyosarcoma/classification , Mutation , High-Throughput Nucleotide Sequencing/methods , Genomics/methods , Biomarkers, Tumor/genetics , Retinoblastoma Binding Proteins/genetics , Ubiquitin-Protein Ligases
7.
Am J Case Rep ; 25: e943098, 2024 May 13.
Article in English | MEDLINE | ID: mdl-38736220

ABSTRACT

BACKGROUND Sinonasal rhabdomyosarcoma (RMS) is a rare malignancy in children and adolescents. It is aggressive and locally invasive, and can require local postoperative radiotherapy. This report presents the case of a 16-year-old girl with a sinonasal-cutaneous fistula following excision and radiotherapy for rhabdomyosarcoma, which required reconstructive surgery using an expanded forehead flap. CASE REPORT We report the case of a16-year-old girl who was referred to our clinic with sinonasal-cutaneous fistula. Prior to presentation at our department, she presented with bilateral intermittent nasal congestion 3 years ago. At a local hospital, orbital computed tomography and nasal endoscopic biopsy revealed an embryonal rhabdomyosarcoma (ERMS). One month later, skull base tumor resection, nasal cavity and sinus tumor resection, and low-temperature plasma ablation were performed at a local hospital. Two weeks after the operation, the patient received intensity-modulated radiation therapy for a total of 50 Gy. Chemotherapy started 15 days after radiotherapy, using a vincristine, dactinomycin, and cyclophosphamide (VAC) regimen. Approximately 1 month later, an ulcer appeared at the nasal root and the lesion gradually expanded. The patient was referred to our hospital due to the defect. Firstly, a tissue expander was implanted at the forehead for 7 months. Then, the skin around the defect was trimmed and forehead flap was separated to repair the lining and external skin. The flap survived well 1-year after the operation. CONCLUSIONS This report highlights the challenges of post-radiation reconstructive surgery and describes how an expanded forehead flap can achieve an acceptable cosmetic outcome in a patient with a sinonasal-cutaneous fistula.


Subject(s)
Cutaneous Fistula , Forehead , Surgical Flaps , Humans , Female , Adolescent , Cutaneous Fistula/etiology , Cutaneous Fistula/surgery , Plastic Surgery Procedures/methods , Paranasal Sinus Neoplasms/surgery , Paranasal Sinus Neoplasms/radiotherapy , Rhabdomyosarcoma/surgery , Rhabdomyosarcoma/radiotherapy , Rhabdomyosarcoma, Embryonal/surgery , Rhabdomyosarcoma, Embryonal/radiotherapy , Nose Neoplasms/surgery , Nose Neoplasms/radiotherapy , Postoperative Complications
8.
Genes Chromosomes Cancer ; 63(4): e23232, 2024 04.
Article in English | MEDLINE | ID: mdl-38607246

ABSTRACT

The wide application of RNA sequencing in clinical practice has allowed the discovery of novel fusion genes, which have contributed to a refined molecular classification of rhabdomyosarcoma (RMS). Most fusions in RMS result in aberrant transcription factors, such as PAX3/7::FOXO1 in alveolar RMS (ARMS) and fusions involving VGLL2 or NCOA2 in infantile spindle cell RMS. However, recurrent fusions driving oncogenic kinase activation have not been reported in RMS. Triggered by an index case of an unclassified RMS (overlapping features between ARMS and sclerosing RMS) with a novel FGFR1::ANK1 fusion, we reviewed our molecular files for cases harboring FGFR1-related fusions. One additional case with an FGFR1::TACC1 fusion was identified in a tumor resembling embryonal RMS (ERMS) with anaplasia, but with no pathogenic variants in TP53 or DICER1 on germline testing. Both cases occurred in males, aged 7 and 24, and in the pelvis. The 2nd case also harbored additional alterations, including somatic TP53 and TET2 mutations. Two additional RMS cases (one unclassified, one ERMS) with FGFR1 overexpression but lacking FGFR1 fusions were identified by RNA sequencing. These two cases and the FGFR1::TACC1-positive case clustered together with the ERMS group by RNAseq. This is the first report of RMS harboring recurrent FGFR1 fusions. However, it remains unclear if FGFR1 fusions define a novel subset of RMS or alternatively, whether this alteration can sporadically drive the pathogenesis of known RMS subtypes, such as ERMS. Additional larger series with integrated genomic and epigenetic datasets are needed for better subclassification, as the resulting oncogenic kinase activation underscores the potential for targeted therapy.


Subject(s)
Rhabdomyosarcoma, Alveolar , Rhabdomyosarcoma, Embryonal , Rhabdomyosarcoma , Male , Humans , Adult , Child , Rhabdomyosarcoma/genetics , Rhabdomyosarcoma, Embryonal/genetics , Epigenomics , Genomics , Ribonuclease III , DEAD-box RNA Helicases , Receptor, Fibroblast Growth Factor, Type 1/genetics
10.
Jpn J Clin Oncol ; 54(8): 903-910, 2024 Aug 14.
Article in English | MEDLINE | ID: mdl-38677984

ABSTRACT

BACKGROUND: The clinical characteristics, outcomes, and prognostic factors of adult embryonal rhabdomyosarcomas (ERMS) and alveolar rhabdomyosarcomas (ARMS), particularly the differences among adolescents/young adults (AYA), adults, and older adults, remain unclear. We assessed the clinicopathological features and survival outcomes of adult patients with ERMS and ARMS in Japan and to compare these features among AYA, adult, and older adult patients. METHODS: We retrospectively analyzed data from the Bone and Soft Tissue Tumor Registry of Japan and enrolled patients aged ≥15 years with ERMS and ARMS. Disease-specific overall survival (DOS) was estimated using the Kaplan-Meier method, and a Cox regression model was used to identify prognostic factors. RESULTS: Among 184 patients with ERMS and ARMS (median age, 27 years; interquartile range, 18-49 years), a high rate of distant and regional nodal metastases was initially observed in 65 (35%) and 66 (36%) cases, respectively. Older age and distant metastasis at first presentation were statistically poor prognostic factors, and histological subtype and site of tumor origin were not associated with DOS. In patients with localized ERMS and ARMS, older age and nodal metastasis were poor prognostic factors; the 5-year DOS rates of patients with and without nodal metastasis were 23% and 72%, respectively. CONCLUSIONS: Older patients with rhabdomyosarcoma had a dismal prognosis, and distant metastasis was a poor prognostic factor. The prognostic factors differed between adult and pediatric patients with rhabdomyosarcoma; biological analyses, such as genome analysis of adult rhabdomyosarcoma and clinical trials with pediatric oncologists, are needed to improve the prognosis of adult rhabdomyosarcoma.


Subject(s)
Rhabdomyosarcoma, Alveolar , Rhabdomyosarcoma, Embryonal , Humans , Male , Rhabdomyosarcoma, Alveolar/pathology , Rhabdomyosarcoma, Alveolar/mortality , Female , Adult , Adolescent , Rhabdomyosarcoma, Embryonal/pathology , Rhabdomyosarcoma, Embryonal/mortality , Rhabdomyosarcoma, Embryonal/therapy , Middle Aged , Young Adult , Retrospective Studies , Prognosis , Japan/epidemiology , Age Factors , Aged , Survival Rate , Cohort Studies
11.
J Med Case Rep ; 18(1): 178, 2024 Mar 23.
Article in English | MEDLINE | ID: mdl-38520005

ABSTRACT

BACKGROUND: Primary brain rhabdomyosarcoma is a rare primary brain malignancy with few case reports. The vast majority of cases of primary brain rhabdomyosarcoma occur in pediatric patients, and immunohistochemistry can distinguish it from embryonal subtypes; however, few cases of primary brain rhabdomyosarcoma in adults have been reported in the literature. CASE PRESENTATION: We report the case of a 26-year-old White male patient who was found to have primary brain alveolar rhabdomyosarcoma after developing headaches for several months. A brain MRI revealed a mixed cystic and solid tumor along the vermis of the cerebellum. The patient underwent a gross total surgical resection, which confirmed the diagnosis of alveolar rhabdomyosarcoma. Further staging workup for another primary focus or disseminated disease yielded negative results, confirming the diagnosis of primary alveolar rhabdomyosarcoma of the brain. CONCLUSION: The standard of care for managing this rare type of brain tumor involves surgery with adjuvant chemoradiotherapy. Further studies should be conducted for a better diagnostic and therapeutic understanding.


Subject(s)
Brain Neoplasms , Rhabdomyosarcoma, Alveolar , Rhabdomyosarcoma, Embryonal , Rhabdomyosarcoma , Adult , Humans , Male , Brain/pathology , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/surgery , Magnetic Resonance Imaging , Rhabdomyosarcoma, Alveolar/diagnostic imaging , Rhabdomyosarcoma, Alveolar/therapy , Rhabdomyosarcoma, Embryonal/diagnosis
12.
J Int Med Res ; 52(3): 3000605241234755, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38501994

ABSTRACT

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.


Subject(s)
Rhabdomyosarcoma, Embryonal , Rhabdomyosarcoma , Adult , Humans , Male , Embryo, Mammalian , Pelvis , Prostate/diagnostic imaging , Prostate/surgery , Rhabdomyosarcoma, Embryonal/diagnosis
14.
BMC Oral Health ; 24(1): 92, 2024 Jan 16.
Article in English | MEDLINE | ID: mdl-38229070

ABSTRACT

BACKGROUND: According to previous research, 2.8% of lesions clinically identified as endodontic pathosis were ultimately diagnosed as non-endodontic periapical lesions via histopathology, and 3.7% of these non-endodontic periapical lesions were malignant neoplasms. Rhabdomyosarcoma, a malignant tumor most commonly observed in children, is uncommon in the oral cavity. CASE PRESENTATION: This is a report of a rare case of embryonal rhabdomyosarcoma in a 41-year-old female, in which the lesion was in the maxillary gingiva. The biopsy reports confirmed the diagnosis of embryonal rhabdomyosarcoma. The wide excision of the tumor, free flap reconstruction, chemotherapy, and radiotherapy were performed. Clinical, radiological, and histopathological and management aspects of the neoplasm were also discussed. CONCLUSIONS: This case report aimed to create awareness that rhabdomyosarcoma is one of the differential diagnoses of periapical lesions.


Subject(s)
Rhabdomyosarcoma, Embryonal , Rhabdomyosarcoma , Adult , Child , Female , Humans , Rhabdomyosarcoma, Embryonal/pathology , Gingiva/pathology
16.
Pediatr Blood Cancer ; 71(4): e30847, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38282125

ABSTRACT

INTRODUCTION: The impact of established prognostic factors on survival outcomes for childhood rhabdomyosarcoma (RMS) have not been well described in the adolescent and young adult (AYA) RMS patient population. METHODS: This is a retrospective analysis of patients with newly diagnosed RMS enrolled between 1997 and 2016 on seven previously reported Children's Oncology Group (COG) clinical trials. Demographics, clinical features, treatment details, and outcome data were collected. Five-year event-free survival (EFS) and overall survival (OS) were estimated for patients diagnosed at age 15-39 years and those diagnosed under age 15 years using the Kaplan-Meier method. Log-rank test was used to compare prognostic factors for EFS and OS. Factors significant in the univariable analysis were included in a Cox proportional hazards regression model. Nonsignificant covariates were removed from the multiple regression model. RESULTS: Total 2151 patients including 402 AYAs were analyzed. AYAs were more likely to present with primary tumors ≥5 cm in size, metastatic disease, alveolar histology, and have FOXO1 fusions compared to children. Five-year EFS for the AYA cohort was 44.2% versus 67% for children (p < .001), and 5-year OS was 52% for the AYA cohort versus 78% for children (p < .001). Multivariable analysis revealed tumor site, size and invasiveness, clinical group, and histology were prognostic in AYAs. CONCLUSION: AYAs with RMS have a poorer prognosis compared to younger children due to multiple factors. Further research focused on AYAs to better understand RMS biology and improve treatments is critical to improve survival.


Subject(s)
Rhabdomyosarcoma, Embryonal , Rhabdomyosarcoma , Soft Tissue Neoplasms , Child , Humans , Adolescent , Young Adult , Adult , Retrospective Studies , Rhabdomyosarcoma/pathology , Prognosis , Proportional Hazards Models
19.
S Afr J Surg ; 61(4): 218-220, 2023 11.
Article in English | MEDLINE | ID: mdl-38450697

ABSTRACT

Rhabdomyosarcoma is the most common soft tissue tumour in children and adolescents, but extremely rare in adults with comparatively worse outcomes. Metastatic disease is not uncommon, but intra-abdominal metastases are exceedingly rare. We report an unusual case of ileal metastases from an upper extremity rhabdomyosarcoma in a 17-year-old male who presented with abdominal pain during a routine follow-up visit. Laparotomy and ileocecectomy for a perforated ileal mass confirmed metastatic embryonal rhabdomyosarcoma with 1 out of 14 positive lymph node metastases. This case demonstrates that, although rare, intra-abdominal metastases should be considered when patients with a rhabdomyosarcoma present with abdominal complaints.


Subject(s)
Rhabdomyosarcoma, Embryonal , Rhabdomyosarcoma , Adolescent , Humans , Male , Abdomen , Intestine, Small , Rhabdomyosarcoma, Embryonal/surgery , Upper Extremity
20.
Rio de Janeiro; s.n; 2023. 17 p.
Thesis in Portuguese | Coleciona SUS | ID: biblio-1530742

ABSTRACT

O neuroblastoma olfatório é um tumor neuroepitelial raro, que cresce do epitélio olfatório na placa cribriforme ou na porção superior da cavidade nasal. Apresenta dois picos de incidência, entre 11 e 20 anos e entre 51 e 60 anos. O comprometimento da mucosa olfatória na porção superior das fossas nasais pode sinalizar a possibilidade de neuroblastoma olfatório, principalmente quando associado à lesão intracraniana com cistos adjacentes. Possui alta incidência de recidiva, e há a necessidade de acompanhamento prolongado. Apresentamos o caso de uma paciente do sexo feminino, 15 anos, com histórico de rabdomiossarcoma embrionário com anaplasia de órbita esquerda, submetida a tratamento quimiorradioterápico até 2009. Permaneceu por mais de 10 anos em controle, procurando assistência médica, por queixa de anosmia de início há um mês associada a cefaleia, aumento da protrusão de olho esquerdo e ptose. A tomografia computadorizada e ressonância magnética revelaram o surgimento de volumosa formação expansiva extra-axial, de contorno lobulado e limites parcialmente definidos, centrada na base craniana anterior, em situação mediana, que determinava osteodestruição do etmoide, do plano esfenoidal e das fóveas etmoidais, com projeção nas fossas nasais e, através das lâminas papiráceas, em ambas as cavidades orbitárias, sobretudo na esquerda, onde rechaçava o músculo reto medial e mantinha contato com o globo ocular. A massa apresentava impregnação difusa pelo contraste, exceto por cistos situados na periferia do componente de extensão intracraniano. Sendo considerado o surgimento tardio da massa descrita ao longo do controle evolutivo da lesão primária orbitária, bem como a localização e as características intrínsecas, foi sugerida a possibilidade de neuroblastoma olfatório radioinduzido, sendo tal hipótese confirmada pelo estudo histopatológico. Foi realizada a ressecção total do tumor e quimioterapia adjuvante, estando programado o início de radioterapia


Olfactory neuroblastoma is a rare neuroepithelial tumor that grows from the olfactory epithelium in the cribriform plate or upper portion of the nasal cavity. It has two incidence peaks, between 11 and 20 years and between 51 and 60 years. Compromising the olfactory mucosa in the upper portion of the nasal cavities may signal the possibility of olfactory neuroblastoma, especially when associated with an intracranial lesion with adjacent cysts. It has a high incidence of recurrence, and there is a need for prolonged follow-up. We present the case of a female patient, 15 years old, with a history of anaplastic embryonal rhabdomyosarcoma of the left orbit, who underwent chemoradiotherapy treatment until 2009. She remained under control for more than 10 years, having sought medical assistance, complaining of anosmia that had started a month before, associated with headache, increased protrusion of the left eye and ptosis. Computed tomography and magnetic resonance imaging revealed the emergence of a large extra-axial expansive formation, with a lobulated contour and partially defined limits, centered on the anterior cranial base, in a median position, which determined osteodestruction of the ethmoid, sphenoid plane and ethmoidal foveas, with projection in the nasal cavities and, through the papyraceous laminae, in both orbital cavities, especially in the left, where it repelled the medial rectus muscle and maintained contact with the ocular globe. The mass showed diffuse contrast enhancement, except for cysts located at the periphery of the intracranial extension component. Considering the late appearance of the mass described during the follow up of the primary orbital lesion, as well as the location and intrinsic characteristics, the possibility of radio-induced olfactory neuroblastoma was suggested, and this hypothesis was confirmed by the histopathological study. Total resection of the tumor and adjuvant chemotherapy were performed, and the start of radiotherapy is scheduled


Subject(s)
Humans , Female , Rhabdomyosarcoma, Embryonal , Esthesioneuroblastoma, Olfactory/radiotherapy , Esthesioneuroblastoma, Olfactory/diagnostic imaging , Head and Neck Neoplasms , Neuroblastoma
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