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Autopsy of infants can provide vital information about the cause of death and contributes to the detection of diagnostic errors, especially in a low- or middle-income country. To observe the clinicopathological agreement in neonatal deaths in neonatal intensive care units (NICU) and comment on the additional information retrieved by autopsy. A retrospective observational study was conducted in the NICU from January 2020 to December 2022. Neonatal deaths were analyzed, and clinical details and autopsy findings were collected. Both clinical and pathological diagnoses were classified according to the Goldman classification. Twenty-two newborn infants were enrolled. The mean gestational age was 33.5 (±4.38) weeks, and the median birth weight was 1510 (1005-2100) g. There was complete concordance between clinical and pathological diagnosis in 11 (50%) cases. Major diagnostic errors occurred in 41% of cases. Respiratory system disorders (lung infections, airway anomalies) accounted for six (54%) cases of missed diagnosis. Our study showed that the diagnosis was revised after autopsy in about one-third of cases, and newer findings were identified in one-fifth of cases.
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Autopsia , Causas de Morte , Erros de Diagnóstico , Idade Gestacional , Unidades de Terapia Intensiva Neonatal , Humanos , Recém-Nascido , Estudos Retrospectivos , Feminino , Masculino , Erros de Diagnóstico/estatística & dados numéricos , Peso ao Nascer , LactenteRESUMO
Dermoid cysts and epidermoid cysts in the floor of the mouth are rare in the pediatric age group. In this case report, we have discussed the presentation, management, and literature review of a 6-month-old female child presenting with both dermoid and epidermoid cysts in the floor of the mouth with an orocutaneous fistula.
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Lipogenic differentiation in ependymoma is an infrequent occurrence with very few reported cases. The grading was done solely based on the histomorphology and molecular subtyping was not described in such ependymomas. New molecular classification divided ependymomas in nine different subgroups, of which supratentorial location tumor usually exhibits C11orf95-RELA, YAP1-MAMLD1, and YAP1-FAM118B fusion proteins. A 46-year-old female presented with headache and right-sided parapresis. Radilogy revealed a large intraxial left parietooccipital mass lesion, which histologically and immuohistochemically confirmed as anaplastic ependymoma with extensive lipogenic changes. The ependymal origin of the tumor was corroborated by the immunohistochemistry and ultrastructural studies. Molecular studies for C11orf95-RELA, YAP1-MAMLD1, and YAP1-FAM118B fusion proteins were negative. This is the first documentation of fusion negative supratentorial anaplastic ependymoma with lipogenic differentiation. This novel finding needs further reinforcement by similar studies to identify its impact on the disease outcome.
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Ependimoma , Neoplasias Supratentoriais , Feminino , Humanos , Pessoa de Meia-Idade , Fator de Transcrição RelA/metabolismo , Ependimoma/genética , Ependimoma/patologia , Imuno-Histoquímica , Proteínas de Ligação a DNA , Proteínas Nucleares , Fatores de Transcrição/genética , ProteínasRESUMO
Background: Pancreatico-biliary maljunction (PBM) is often found to be associated with choledochal cysts (CCs). According to a European multicenter study, the prevalence of PBM in cases of CC is found to be 72.2%, however, there is no Indian study depicting the prevalence of PBM in Indian children with CCs, which is one of the main postulated factors in the etiopathogenesis of CC. In this study, we have attempted to observe prospectively the prevalence of PBM in children with CC and correlate this to its morphological and biochemical parameters. The association between the presence of PBM and histopathological findings such as epithelial changes of the mucosa of the CC, inflammation, metaplasia or dysplasia, and histopathology of the liver has also been evaluated. Materials and Methods: We carried out a single center, prospective observational study with a single arm study group. We prospectively selected all patients of CC admitted for surgery from November 2018 to October 2020. Data on biochemical, radiological, and histopathological parameters were collected and analyzed. Results: We included a total of 20 patients in our study. The mean age of the participants was 6.22 ± 4.32 years. Among them, 11 (55.0%) were male and 9 (45%) were female. Abdominal pain was the most common presenting complaint among our patients (75.0%) and had a significant association with the presence of a PBM (P = 0.001). In symptomatic children, the mean duration of symptoms was 4.50 ± 2.26 months for jaundice, 4.50 ± 1.98 months for abdominal distension, and 5.07 ± 2.02 months for abdominal pain. Among the 3 children with cholangitis, the mean number of episodes was 3.33 ± 2.08, with a median of four episodes. Fourteen (70.0%) of the children had type I a CC, 1 (5.0%) participant each for types I b, I c, II and IV a and 2 (10.0%) of them had type IV b cyst. The mean size of the cyst (cm) was 7.41 ± 3.03 with a median of 6.85 cm. Among the children, 9 (45%) showed the presence of PBM on magnetic resonance cholangiopancreatography (MRCP), with 7 (77.8%) showing Komi's C-P type and 2 (22.2%) showing Komi's PC type. The mean common channel length (mm) on MRCP was 8.11 ± 2.47 with a median length of 8.00 mm. The biochemical analysis of a bile fluid amylase and lipase is the functional indicator of the presence of a PBM. Histopathological examination showed the presence of ulceration in the walls of the CC in 10 (50.0%) of the specimens. There was a significant association of the presence of PBM and ulceration in the mucosa of the CC (P ≤ 0.001), with the median levels being the highest in the PBM present group. Conclusion: Abdominal pain is the most common complaint in a child with CC, and when present, it is significantly associated with the presence of a PBM. MRCP is the gold standard tool to detect CCs and find out the morphology of PBM. The prevalence of PBM in children with CC of 45% with a mean common channel length of 8.11 mm. The biochemical analysis of a bile amylase and lipase is the functional indicator of the presence of a PBM and there is a significant association of their higher levels and presence of PBM. The presence of chronic inflammation and microscopic ulcers is significant histologic parameters depicting the presence of a PBM.
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Background: Comparative performance of various ultrasound models in diagnosing ovarian lesions has not been adequately studied. This study aimed to evaluate the diagnostic performance of the International Ovarian Tumor Analysis (IOTA) simple rules and Assessment of Different NEoplasias in the adneXa (ADNEX) models in women with ovarian lesions. Methods: Women 18-80 years, with an ovarian lesion planned for surgery were recruited in this prospective observational cohort study. Preoperative risk stratification was done by both IOTA simple rules and the ADNEX model. The diagnostic performance of both models was estimated using histopathology as the gold standard. Results: A total of 90 women were recruited into the study. The IOTA simple rules were applicable to 77 (85.5%) participants and the ADNEX model on 100% women. Both the simple rules and the ADNEX model had good diagnostic performance. The sensitivity and specificity of the IOTA simple rules for predicting malignancy was 66.6% and 91%, while that of the ADNEXA model was 80% and 94%, respectively. The maximum diagnostic accuracy for prediction of both benign and malignant tumors was obtained when cancer antigen-125 (CA-125) was combined with the IOTA ADNEX model (91.0%), but for Stage I malignancy, the maximum diagnostic accuracy was for ADNEX without CA-125 (91.0%). Conclusion: Both the IOTA models have a good diagnostic accuracy and are of paramount importance in differentiating benign from malignant tumors and predicting the stage of the malignant disease.
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Intramedullary metastasis from primary glioblastoma multiforme (GBM) is a rare phenomenon with a poor prognosis. The rate of spinal metastasis from intracranial GBM has been variably reported to be 0.4-2%. According to a review by Lawton in 2012, there were only 42 documented cases of primary intracranial GBM with spinal metastasis. We present a unique case of early-onset symptomatic holocord metastasis of GBM in a patient approximately 2 months of detection of primary GBM.
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Neoplasias Encefálicas , Glioblastoma , Neoplasias da Medula Espinal , Neoplasias da Coluna Vertebral , Neoplasias Supratentoriais , Humanos , Glioblastoma/patologia , Neoplasias Encefálicas/patologia , Neoplasias da Medula Espinal/cirurgiaRESUMO
Leukocyte cell population data (CPD) generated by hematology auto analyzers are reported to be useful in screening of sepsis patients. However, there is a paucity of literature highlighting the utility of CPD in screening of acute leukemias (AL). Leucocyte CPD obtained by Sysmex XN1000 hematology analyzer from 210 cases of ALs [22 acute promyelocytic leukemia (APL), 79 non-APL acute myeloid leukemia (non-APL-AML) and 109 acute lymphoblastic leukemia (ALL)] were compared with 100 healthy and 52 reactive controls. Receiver operator curves were drawn to determine the cut-off values of individual parameters. The regression equations combining the best parameters were then formulated to calculate a cut-off value for discrimination among AL subgroups and controls. Acute leukemias showed significant differences (p < 0.05) in various CPD parameters compared to control subjects. A combination of best CPD parameters discriminated ALs from healthy controls (cut off; 0.443, sensitivity of 94% and specificity of 91%), ALs from reactive controls (cut off; 0.576, sensitivity; 97%, specificity; 92%), APL from non-APL-AML (cut off; 0.174, sensitivity of 91% and specificity of 67%), and AML from ALL (cut off; 1.338, sensitivity; 86.1%, specificity; 75%). The CPD from Sysmex XN 1000 analyzer could be a useful tool in screening and lineage characterization of acute leukemias; particularly at centers where high-end technical expertise is still not available. Supplementary Information: The online version contains supplementary material available at 10.1007/s12288-021-01488-9.
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Non-syndromic hearing loss (NSHL) is a common hereditary disorder. Both clinical and genetic heterogeneity has created many obstacles to understanding the causes of NSHL. The present study has attempted to ravel the genetic aetiology in NSHL progression and to screen out potential target genes using computational approaches. The reported NSHL target genes (2009-2020) have been studied by analyzing different biochemical and signaling pathways, interpretation of their functional association network, and discovery of important regulatory interactions with three previously established miRNAs in the human inner ear as well as in NSHL such as miR-183, miR-182, and miR-96. This study has identified SMAD4 and SNAI2 as the most putative target genes of NSHL. But pathogenic and deleterious non-synonymous single nucleotide polymorphisms discovered within SMAD4 is anticipated to have an impact on NSHL progression. Additionally, the identified deleterious variants in the functional domains of SMAD4 added a supportive clue for further study. Thus, the identified deleterious variant i.e., rs377767367 (G491V) in SMAD4 needs further clinical validation. The present outcomes would provide insights into the genetics of NSHL progression.
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Congenital nonsyndromic hearing loss (NSHL) has been considered as one of the most prevalent chronic disorder in children. It affects the physical and mental conditions of a large children population worldwide. Because of the genetic heterogeneity, the identification of target gene is very challenging. However, gap junction ß-2 ( GJB2 ) is taken as the key gene for hearing loss, as its involvement has been reported frequently in NSHL cases. This study aimed to identify the association of GJB2 mutants in different Indian populations based on published studies in Indian population. This will provide clear genetic fundamental of NSHL in Indian biogeography, which would be helpful in the diagnosis process.
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BACKGROUND: The purpose of this study was to identify the factors which predict the perioperative outcomes after video-assisted thoracoscopic surgery (VATS) thymectomy in patients with myasthenia gravis (MG) or thymic neoplasms. PATIENTS AND METHODS: Data of consecutive patients who had undergone VATS thymectomy in our institution from August 2016 to April 2018 were collected retrospectively from a prospectively maintained database followed by prospective recruitment of patients who underwent VATS thymectomy from April 2018 to February 2020. RESULTS: A total of 31 patients were included. Females were more common (51.6%), and 29 patients (93.5%) had MG. The most common indication for thymectomy was the presence of both MG and thymoma (51.6%). Most MG patients had moderate disease (55.2%) or severe (24.1%) disease preoperatively. Mean operative time and blood loss were 196.9 ± 63.5 min and 122.5 ± 115.3 ml, respectively. Mean hospital stay was 7.9 ± 6.7 days. The rate of major and minor complications was 16.18% and 35.4%, respectively. Multivariate linear regression analysis established that MG symptoms >12 months, prolonged invasive ventilation (intubation ≥24 h), and complications were associated significantly with a prolonged hospital stay. Adjusting for outliers, pre-operative disease severity (MG Foundation of America class), and intubation ≥24 h were the only factors that had a significant impact on perioperative outcomes. CONCLUSION: Pre-operative disease severity and post-operative invasive ventilation are strong determinants of perioperative outcomes. Pre-operative optimisation and early extubation protocols can further reduce morbidity in patients undergoing thymectomy by the VATS approach.
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BACKGROUND: Ovarian teratoma has an uncommon association with anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis. This is a life-threatening condition, and here, we describe a case of an adolescent girl with anti-NMDAR encephalitis caused by an ovarian teratoma. CASE: A 14-year-old girl presented with acute features of fever, severe headache, altered behavioral changes, delirium, autonomic instability, episodes of seizure, and involuntary movement over a period of 1 month. Upon investigation, electroencephalogram (EEG), computed tomography (CT), and magnetic resonance imaging (MRI) of her brain showed normal findings. Her serum and cerebrospinal fluid were positive for anti-NMDARs, and a diagnosis of anti-NMDAR encephalitis was made, so she received a course of intravenous methyl prednisolone and immunoglobulin and was discharged after her neurological status improved. Upon further workup, she was suspected to have a left ovarian dermoid cyst on transabdominal ultrasonogram, which was an incidental finding. Her tumor marker panel showed normal serum lactate dehydrogenase, beta human chorionic gonadotropin, inhibin, alpha-fetoprotein, and carcinoembryonic antigen and a cancer antigen 125 level of 71.5 U/L. She eventually underwent laparoscopic left ovarian cystectomy and received immunotherapy in the postoperative period. She was discharged in stable condition on postoperative day 4. On histopathological examination, the specimen revealed a mature cystic teratoma with glial component. One year after surgery, the patient has recovered completely and has no residual psychiatric or neurological symptoms. CONCLUSION: Complete recovery after surgery in cases of anti-NMDAR encephalitis with ovarian teratoma emphasizes the need for early recognition of the entity, search for underlying tumor, and tumor removal to improve the prognosis.
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Encefalite Antirreceptor de N-Metil-D-Aspartato , Neoplasias Ovarianas , Teratoma , Adolescente , Encefalite Antirreceptor de N-Metil-D-Aspartato/complicações , Encefalite Antirreceptor de N-Metil-D-Aspartato/etiologia , Feminino , Humanos , Neoplasias Ovarianas/patologia , Ovariectomia/efeitos adversos , Teratoma/complicações , Teratoma/diagnóstico , Teratoma/cirurgiaRESUMO
BACKGROUND: Liposuction is the most accepted technique for treatment of gynecomastia at present with or without residual gland tissue excision. Conventional liposuction uses incisions for introduction of cannula, made usually at the inframammary crease or axilla resulting in consequent scars. Cross-chest liposuction technique was introduced to avoid these additional scars and improve the aesthetic outcome. This study aimed to evaluate the difference between aesthetic outcome of conventional liposuction and cross-chest liposuction in treatment of gynecomastia. METHOD: A prospective comparative study between 2 groups with 15 patients in each was conducted, one with conventional and the other cross-chest liposuction. Excision of residual gland tissue was performed through circum-areolar incision in both the groups. Aesthetic outcome was evaluated in both the groups using Likert scale and compared. RESULT: The mean age of the patients was 22.6 years and the mean duration of presentation was 8.13 years. Satisfaction rate with conventional and cross-chest liposuction was 80% and 86%, respectively, as assessed by the patients. The rate was 80% and 77%, respectively, in both the groups as assessed by independent observer. The complication rate was 13.3% in conventional and 20% in cross-chest group. The difference in outcome was not statistically significant between two groups. Difference between the mean Likert scores of pre-operative and post-operative satisfaction was statistically significant for both the techniques. CONCLUSION: The conventional and the cross-chest liposuction, both yield comparable results when used for treatment of gynecomastia in terms of aesthetic outcome. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.
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Ginecomastia , Lipectomia , Adulto , Cicatriz/cirurgia , Estética , Ginecomastia/cirurgia , Humanos , Lipectomia/métodos , Masculino , Estudos Prospectivos , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemRESUMO
Anaplastic large cell lymphoma (ALCL) is a distinct T-cell non-Hodgkin lymphoma involving both nodal and extra-nodal sites with a specific anaplastic lymphoma kinase 1 (ALK-1) gene rearrangement. The commonly involved extranodal sites include skin, bone, soft tissue, lungs, and liver. ALCL primarily involving gastrointestinal (GI) tract is rare. In this manuscript, we describe a case of primary esophageal ALK1 positive-ALCL (null phenotype) in a young female, who presented with fleshy mucosal lesion in the lower third of the esophagus and present a systematic review of 35 cases of GI-ALCL reported in the English literature over the past 28 years (1990-2018) with regard to the clinicopathological characteristics, therapy, and outcome.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Gastrointestinais/patologia , Linfoma Anaplásico de Células Grandes/patologia , Adulto , Feminino , Neoplasias Gastrointestinais/tratamento farmacológico , Humanos , Linfoma Anaplásico de Células Grandes/tratamento farmacológico , Prognóstico , Adulto JovemRESUMO
We describe a case of ALK1 negative (-) pulmonary anaplastic large-cell lymphoma (pALCL) in an adult female with an unfavorable outcome following combination chemotherapy and present a systematic review of 39 such sporadic cases reported over the past 28 years (1990-2018). pALCL occurred in 26 males and 13 females (median age, 43 years [5-81]) and 13/39 (33.33%) were ≤18 years. The lesions were endobronchial in 21 (53.85%) and parenchymal in 18 (46.15%) cases. Twenty-six cases were ALK1-; 13 were ALK1+ (positive); and 27/34 cases had a T cell phenotype (where tested). ALK- cases were characterized by higher age (P = 0.012) at presentation, more B symptoms (P = 0.002), and more parenchymal than endobronchial lesions (P = 0.039). The median survival (N = 29/39) was 60 months; pediatric group had a better survival than adult/elderly group (log-rank, P = 0.026). pALCL is rare and may have a distinct biological behavior.
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Quinase do Linfoma Anaplásico/metabolismo , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Pulmonares/patologia , Linfoma Anaplásico de Células Grandes/patologia , Feminino , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/metabolismo , Linfoma Anaplásico de Células Grandes/tratamento farmacológico , Linfoma Anaplásico de Células Grandes/metabolismo , Pessoa de Meia-Idade , PrognósticoRESUMO
Hearing loss (HL) is a significant public health problem and causes the most frequent congenital disability in developed societies. The genetic analysis of non-syndromic hearing loss (NSHL) may be considered as a complement to the existent plethora of diagnostic modalities available. The present study focuses on exploring more target genes with respective non-synonymous single nucleotide polymorphisms (nsSNPs) involved in the development of NSHL. The functional network analysis and variant study have successfully been carried out from the gene pool retrieved from reported research articles of the last decade. The analyses have been done through STRING. According to predicted biological processes, various variant analysis tools have successfully classified the NSHL causative genes and identified the deleterious nsSNPs, respectively. Among the predicted pathogenic nsSNPs with rsIDs rs80356586 (I515T), rs80356596 (L1011P), rs80356606 (P1987R) in OTOF have been reported in NSHL earlier. The rs121909642 (P722S), rs267606805 (P722H) in FGFR1, rs121918506 (E565A) and rs121918509 (A628T, A629T) in FGFR2 have not been reported in NSHL yet, which should be clinically experimented in NSHL. This also indicates this variant's novelty as its association in NSHL. The findings and the analyzed data have delivered some vibrant genetic pathogenesis of NSHL. These data might be used in the diagnostic and prognostic purposes in non-syndromic congenitally deaf children.
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Surdez/genética , Audição/genética , Polimorfismo de Nucleotídeo Único , Bases de Dados Genéticas , Surdez/diagnóstico , Surdez/fisiopatologia , Redes Reguladoras de Genes , Marcadores Genéticos , Predisposição Genética para Doença , Humanos , Metanálise em Rede , Fenótipo , Valor Preditivo dos Testes , Mapas de Interação de Proteínas , Medição de Risco , Fatores de Risco , Transdução de SinaisRESUMO
Primary malignant giant cell tumor (PMGCT) is a diagnosis based on the presence of a high-grade sarcomatous component along with a typical benign giant cell tumor (GCT). We report the first case of PMGCT of the sternum in a 28-year-old male with painless swelling over the manubrium sterni. The differential diagnoses of PMGCT and giant cell-rich osteosarcoma were considered. Surgical resection was performed, and the reconstruction was done with a neosternum using polymethyl methacrylate and prolene mesh. At 30 months follow-up, the patient is disease-free.
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Intraconal dermoid cysts are very unusual in routine clinical practice. Clinical symptoms depend upon the site and extension of the lesion. Though rare, proptosis, diplopia, and orbital pain are the presenting symptoms encountered in patients with an intraorbital dermoid cyst. Although radiology can be diagnostic, a complete correlation with the final histopathology is always mandatory for its confirmation. Endoscopic excision of the cyst ensures a complete cure for the disease without any intraoperative/postoperative complications.
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The currently emerging pathogen SARS-CoV-2 has produced the global pandemic crisis by causing COVID-19. The unique and novel genetic makeup of SARS-CoV-2 has created hurdles in biological research, due to which the potential drug/vaccine candidates have not yet been discovered by the scientific community. Meanwhile, the advantages of bioinformatics in viral research had created a milestone since last few decades. The exploitation of bioinformatics tools and techniques has successfully interpreted this viral genomics architecture. Some major in silico studies involving next-generation sequencing, genome-wide association studies, computer-aided drug design etc. have been effectively applied in COVID-19 research methodologies and discovered novel information on SARS-CoV-2 in several ways. Nowadays the implementation of in silico studies in COVID-19 research has not only sequenced the SARS-CoV-2 genome but also properly analyzed the sequencing errors, evolutionary relationship, genetic variations, putative drug candidates against SARS-CoV-2 viral genes etc. within a very short time period. These would be very needful towards further research on COVID-19 pandemic and essential for vaccine development against SARS-CoV-2 which will save public health.
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Intraconal dermoid cysts are very unusual in routine clinical practice. Clinical symptoms depend upon the site and extension of the lesion. Though rare, proptosis, diplopia, and orbital pain are the presenting symptoms encountered in patients with an intraorbital dermoid cyst. Although radiology can be diagnostic, a complete correlation with the final histopathology is always mandatory for its confirmation. Endoscopic excision of the cyst ensures a complete cure for the disease without any intraoperative/postoperative complications.
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Humanos , Masculino , Adulto , Órbita/patologia , Cisto Dermoide/cirurgia , Neoplasias Oculares/cirurgiaRESUMO
Primary malignant giant cell tumor (PMGCT) is a diagnosis based on the presence of a high-grade sarcomatous component along with a typical benign giant cell tumor (GCT). We report the first case of PMGCT of the sternum in a 28-year-old male with painless swelling over the manubrium sterni. The differential diagnoses of PMGCT and giant cell-rich osteosarcoma were considered. Surgical resection was performed, and the reconstruction was done with a neosternum using polymethyl methacrylate and prolene mesh. At 30 months follow-up, the patient is disease-free.