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BACKGROUND AND AIMS: ChatGPT is a powerful artificial intelligence (AI) chatbot developed by the OpenAI research laboratory which is capable of analysing human input and generating human-like responses. Early research into the potential application of ChatGPT in healthcare has focused mainly on clinical and administrative functions. The diagnostic ability and utility of ChatGPT in histopathology is not well defined. We benchmarked the performance of ChatGPT against pathologists in diagnostic histopathology, and evaluated the collaborative potential between pathologists and ChatGPT to deliver more accurate diagnoses. METHODS AND RESULTS: In Part 1 of the study, pathologists and ChatGPT were subjected to a series of questions encompassing common diagnostic conundrums in histopathology. For Part 2, pathologists reviewed a series of challenging virtual slides and provided their diagnoses before and after consultation with ChatGPT. We found that ChatGPT performed worse than pathologists in reaching the correct diagnosis. Consultation with ChatGPT provided limited help and information generated from ChatGPT is dependent on the prompts provided by the pathologists and is not always correct. Finally, we surveyed pathologists who rated the diagnostic accuracy of ChatGPT poorly, but found it useful as an advanced search engine. CONCLUSIONS: The use of ChatGPT4 as a diagnostic tool in histopathology is limited by its inherent shortcomings. Judicious evaluation of the information and histopathology diagnosis generated from ChatGPT4 is essential and cannot replace the acuity and judgement of a pathologist. However, future advances in generative AI may expand its role in the field of histopathology.
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Inteligência Artificial , Patologistas , Humanos , Biópsia , Encaminhamento e Consulta , SoftwareRESUMO
Angiomatoid fibrous histiocytoma (AFH) is an uncommon soft tissue neoplasm that can exhibit diverse morphological features, including myxoid change. Rarely, the tumor occurs intracranially and poses considerable diagnostic challenges to neuropathologists. This is compounded by a recently coined entity, referred to as intracranial myxoid mesenchymal tumor (IMMT). These tumors show significant overlaps with intracranial myxoid AFH from clinicopathological and molecular genetic viewpoints. We described an unusual intracranial tumor in a 30-year-old man. The tumor exhibited "classic" histological features of myxoid AFH and EWSR1:CREM fusion, a relatively novel variant of EWSR1:CREB family fusion, first identified in IMMT. We also performed a comprehensive literature review comparing the clinicopathological features of intracranial AFHs and IMMTs. Peritumoral lymphoplasmacytic cuffing appears to be the only morphological finding that is consistently absent in reported cases of IMMT while being present in most intracranial AFHs. Otherwise, both tumors showed considerable overlaps in clinical, histological, and immunohistochemical features and have a common molecular genetic signature of EWSR1:CREB family fusion, including EWSR1:CREM fusion. Our case appeared to be the first described EWSR1:CREM-fused intracranial tumor to show prominent peritumoral lymphoplasmacytic cuffing and myxoid change in addition to most of the other "classic" morphologic features of AFH. As such, while the current literature appears to be lacking when it comes to defining intracranial myxoid AFH and IMMT as separate nosological entities, they likely represent a morphological spectrum of a common entity characterized by EWSR1 rearrangement, akin to solitary fibrous tumors and hemangiopericytomas with the signal transducer and activator of transcription 6 gene (STAT6) rearrangement.
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Neoplasias Encefálicas , Histiocitoma Fibroso Benigno , Histiocitoma Fibroso Maligno , Neoplasias de Tecidos Moles , Adulto , Neoplasias Encefálicas/genética , Modulador de Elemento de Resposta do AMP Cíclico/genética , Fusão Gênica , Humanos , Masculino , Proteína EWS de Ligação a RNA/genéticaRESUMO
Background: To determine the frequency of discordance in programmed death-ligand 1(PD-L1) expression between primary tumors and paired distant metastases in advanced cancers.Methods: We searched MEDLINE and EMBASE for eligible studies and assessed their methodologic quality using QUADAS-2 tool. We estimated the discordant rates (positive to negative or vice versa) of PD-L1 expression in primary tumors and paired distant metastases using logistic-normal random effects model. We performed subgroup analyses based on the PD-L1 status of primary tumors (positive or negative), location of primary tumors (lung or others) and distant metastases (central nervous system or others), timing of distant metastases (synchronous or metachronous), positivity thresholds of PD-L1 expression (1% or 5%) and types of antibody clones used (E1L3N or SP142).Results: Thirteen eligible studies including 451 cases were identified. The included studies were judged to have low to unclear risk of bias. The pooled estimate of discordant rates in PD-L1 expression was 31% (95% CI= 19-47%), with high heterogeneity across the studies (I2 = 75%). There was no significant effect modification in the discordant rates according to the predefined subgroups.Conclusion: Approximately one-third of advanced cancer cases have discordance in PD-L1 expression between primary tumors and paired distant metastases. A more liberal testing of PD-L1 expression in both primary and metastatic tumors is recommended in order to identify patients who may benefit from immune checkpoint blockade treatment. Further research exploring the mechanisms and its impact are warranted.
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Antígeno B7-H1/metabolismo , Proteínas de Neoplasias/metabolismo , Neoplasias/metabolismo , Viés , Intervalos de Confiança , Humanos , Metástase Neoplásica , Neoplasias/patologia , Estudos RetrospectivosRESUMO
Central neurocytoma is a rare neuronal tumor that typically occurs in young adults. Infrequently, these tumors exhibit advanced neuronal maturation and glial differentiation, giving rise to a histologically diverse tumor, in contrast to a typical central neurocytoma. We present a novel case of intraventricular central neurocytoma with prominent gangliogliomatous differentiation that developed atypical features upon recurrence after 10 years of follow up in a 10-year-old boy. Our case provides insight into the divergent differentiation capability of a neurocytic tumor and illustrates the diverse histological features of this rare entity.
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Neoplasias do Ventrículo Cerebral/patologia , Ganglioglioma/patologia , Recidiva Local de Neoplasia/patologia , Neurocitoma/patologia , Diferenciação Celular , Criança , Seguimentos , Humanos , Masculino , Adulto JovemRESUMO
AIMS: Hashimoto's thyroiditis was recently divided into IgG4-plasma cell-rich and IgG4-plasma cell-poor subtypes. The former, also known as IgG4 thyroiditis, is associated with clinical, serological, sonographic and morphological features that are distinctive from those of the non-IgG4 subgroup. We describe an interesting case of IgG4-positive mucosa-associated lymphoid tissue (MALT) lymphoma arising in a background of IgG4 thyroiditis. METHODS AND RESULTS: The thyroid gland showed typical features of IgG4 thyroiditis, including characteristic patterns of fibrosis. A dense lymphoplasmacytic infiltrate diffusely involved the entire gland without formation of a destructive tumour mass. Lymphoepithelial lesions were prominent. There were abundant IgG4-positive plasma cells, with the IgG4/IgG ratio exceeding 40%. The IgG4-positive plasma cells were monotypic for kappa light chain, and there was monoclonal IGH rearrangement. Fluorescence in-situ hybridization revealed IGH translocation without translocation of MALT1, bcl-10, or FOXP1. CONCLUSIONS: This represents the first case of IgG4-producing MALT lymphoma associated with IgG4 thyroiditis. IGH translocation with an unknown partner gene was identified. We suggest the performance of serum and immunohistochemical investigations for IgG and IgG4 in all cases of Hashimoto's thyroiditis to diagnose IgG4 thyroiditis. In addition, clonality assays and light chain studies are useful to exclude a low-grade lymphoma arising in this context.
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Doença de Hashimoto/complicações , Imunoglobulina G/imunologia , Linfoma de Zona Marginal Tipo Células B/complicações , Biópsia por Agulha Fina , Análise Citogenética , Doença de Hashimoto/genética , Doença de Hashimoto/imunologia , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Linfoma de Zona Marginal Tipo Células B/genética , Linfoma de Zona Marginal Tipo Células B/imunologia , Linfoma de Zona Marginal Tipo Células B/patologia , Masculino , Pessoa de Meia-Idade , Translocação GenéticaRESUMO
BACKGROUND AND PURPOSE: Evidence and clinical guidelines support the use of adjuvant RT in high-risk low-grade gliomas. However, patients with oligodendroglioma have a more indolent disease course and delaying or avoiding RT is often considered to reduce treatment-related toxicities. As the optimal adjuvant management for oligodendroglioma is unclear, we aimed to assess the effect of adjuvant RT on overall survival (OS) and progression-free survival (PFS). METHODS: MEDLINE, EMBASE, CENTRAL and CINAHL were searched from January 1990 to February 2023 for studies comparing adjuvant RT versus no adjuvant RT for patients with oligodendroglioma. RESULTS: This review found 17 eligible studies including 14 comparative retrospective studies and 3 randomized controlled trials. Using random-effects model, the results suggested that adjuvant RT improved OS by 28 % (HR 0.72, 95 % CI (0.56-0.93), I2 = 86 %), and PFS by 48 % (HR 0.52, (95 % CI 0.40-0.66), I2 = 48 %) compared to patients without adjuvant RT. Subgroup analysis showed that upfront adjuvant RT improved OS and PFS compared to salvage RT. There were no significant differences in OS and PFS between adjuvant RT versus adjuvant chemotherapy. There was improvement in PFS but not OS for adjuvant chemoradiotherapy versus adjuvant chemotherapy alone. Adjuvant RT improved OS in WHO Grade 3 but not WHO Grade 2 oligodendroglioma. CONCLUSION: Overall, adjuvant RT improved OS and PFS in patients with oligodendroglioma. In patients with low-risk features (e.g. Grade 2, gross total resection), alternative approaches and individualization of management such as adjuvant chemotherapy alone may be reasonable considering the lack of survival benefit. Future efforts should prospectively investigate these treatment regimens on molecularly-classified oligodendroglioma patients (defined by presence of IDH mutation and 1p/19q co-deletion), balancing between maximizing survival outcomes and reducing RT-related toxicities.
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Neoplasias Encefálicas , Oligodendroglioma , Oligodendroglioma/radioterapia , Oligodendroglioma/mortalidade , Oligodendroglioma/terapia , Humanos , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/mortalidade , Radioterapia Adjuvante/métodos , Gradação de TumoresRESUMO
BACKGROUND: Artificial Intelligence(AI)-based solutions for Gleason grading hold promise for pathologists, while image quality inconsistency, continuous data integration needs, and limited generalizability hinder their adoption and scalability. METHODS: We present a comprehensive digital pathology workflow for AI-assisted Gleason grading. It incorporates A!MagQC (image quality control), A!HistoClouds (cloud-based annotation), Pathologist-AI Interaction (PAI) for continuous model improvement, Trained on Akoya-scanned images only, the model utilizes color augmentation and image appearance migration to address scanner variations. We evaluate it on Whole Slide Images (WSI) from another five scanners and conduct validations with pathologists to assess AI efficacy and PAI. RESULTS: Our model achieves an average F1 score of 0.80 on annotations and 0.71 Quadratic Weighted Kappa on WSIs for Akoya-scanned images. Applying our generalization solution increases the average F1 score for Gleason pattern detection from 0.73 to 0.88 on images from other scanners. The model accelerates Gleason scoring time by 43% while maintaining accuracy. Additionally, PAI improve annotation efficiency by 2.5 times and led to further improvements in model performance. CONCLUSIONS: This pipeline represents a notable advancement in AI-assisted Gleason grading for improved consistency, accuracy, and efficiency. Unlike previous methods limited by scanner specificity, our model achieves outstanding performance across diverse scanners. This improvement paves the way for its seamless integration into clinical workflows.
Gleason grading is a well-accepted diagnostic standard to assess the severity of prostate cancer in patients' tissue samples, based on how abnormal the cells in their prostate tumor look under a microscope. This process can be complex and time-consuming. We explore how artificial intelligence (AI) can help pathologists perform Gleason grading more efficiently and consistently. We build an AI-based system which automatically checks image quality, standardizes the appearance of images from different equipment, learns from pathologists' feedback, and constantly improves model performance. Testing shows that our approach achieves consistent results across different equipment and improves efficiency of the grading process. With further testing and implementation in the clinic, our approach could potentially improve prostate cancer diagnosis and management.
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Obstrução das Vias Respiratórias/etiologia , Sarcoma de Células Dendríticas Foliculares/complicações , Bócio Nodular/cirurgia , Doenças Linfáticas/complicações , Neoplasias do Mediastino/complicações , Insuficiência Respiratória/etiologia , Neoplasias da Traqueia/diagnóstico , Doença Aguda , Obstrução das Vias Respiratórias/cirurgia , Broncoscopia , Sarcoma de Células Dendríticas Foliculares/diagnóstico por imagem , Sarcoma de Células Dendríticas Foliculares/cirurgia , Eletrocirurgia , Feminino , Bócio Nodular/complicações , Bócio Nodular/patologia , Humanos , Doenças Linfáticas/patologia , Doenças Linfáticas/cirurgia , Neoplasias do Mediastino/diagnóstico , Neoplasias do Mediastino/diagnóstico por imagem , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Tomografia por Emissão de Pósitrons , Insuficiência Respiratória/cirurgia , Tireoidectomia , Neoplasias da Traqueia/secundário , Neoplasias da Traqueia/cirurgiaRESUMO
Implant exposure is a known complication of titanium mesh cranioplasty and is usually managed by implant removal and/or exchange. We describe a case of exposed titanium mesh cranioplasty which was managed with implant exchange and bipedicled flap coverage, and showcase an interesting phenomenon of full-thickness skin present beneath the exposed mesh. This was confirmed on histopathology, which showed the presence of dermal appendages including pilosebaceous units and eccrine glands. We postulate that the mechanism behind this phenomenon involves islands of viable skin 'dropping' between holes in the mesh and coalescing beneath the exposed implant, as suggested by histopathology findings of nodular protrusions and varying degrees of epidermal hyperplasia. This protects the underlying dura from external infection. We propose for this phenomenon to be called dermointegration. Our findings suggest that similar cases, particularly patients who are not fit for general anaesthesia, may potentially be managed with a more conservative approach.
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Ependymomas are glial neoplasms with a wide morphological spectrum. The majority of supratentorial ependymomas are known to harbor ZFTA fusions, most commonly to RELA. We present an unusual case of a 9-year-old boy with a supratentorial ependymoma harboring a noncanonical ZFTA-MAML2 fusion. This case had unusual histomorphological features lacking typical findings of ependymoma and bearing resemblance to a primitive neoplasm with focal, previously undescribed myogenic differentiation. We discuss the diagnostic pitfalls in this case and briefly review the histological features of ependymoma with noncanonical gene fusions. Our report underscores the importance of molecular testing in such cases to arrive at the correct diagnosis. Supratentorial ependymomas with noncanonical fusions are rare, and more studies are necessary for better risk stratification and identification of potential treatment targets.
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INTRODUCTION: The differential diagnoses for multifocal lesions with pineal and suprasellar involvement in a young adult include germ cell tumour and intracranial metastasis. Other differentials include atypical teratoid/rhabdoid tumour and pineoblastoma. We present the first known case of multicentric H3K27M mutant diffuse midline glioma, which is typically defined by its diffuse nature, midline location, and H3K27M mutation. CASE REPORT: A young Chinese female presented subacutely with giddiness, right abducens nerve palsy and unsteady gait. Magnetic resonance imaging (MRI) of the brain with contrast revealed a moderately sized pineal region tumour, extending into the third ventricle, associated with hydrocephalus. There were two other synchronous lesions noted in the suprasellar and left occipital region. Serum and cerebrospinal fluid tumour markers, along with a computed tomography scan of her thorax and abdomen and were unremarkable. She underwent an endoscopic third ventriculostomy and biopsy of pineal and suprasellar lesions. Histology demonstrated a poor prognosis variant multifocal glioblastoma multiforme that was IDH wildtype, H3K27M positive, and MGMT unmethylated. MRI of the whole spine did not reveal any drop metastasis. The patient subsequently underwent adjuvant chemotherapy and radiotherapy after she was deemed to be unsuitable for surgical resection. CONCLUSION: Although rare, multicentric H3K27M mutant diffuse midline glioma should be included in the list of differential diagnoses for multifocal enhancing lesions with involvement of the pineal and suprasellar regions, especially if the lesions demonstrate imaging features atypical for more common diagnosis such as germ cell tumours.
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Glioma/genética , Glioma/patologia , Glândula Pineal/patologia , Pinealoma/genética , Pinealoma/patologia , Biomarcadores Tumorais , Neoplasias Encefálicas/cirurgia , Feminino , Glioblastoma/genética , Glioma/diagnóstico por imagem , Histonas/genética , Humanos , Imageamento por Ressonância Magnética , Mutação , Glândula Pineal/diagnóstico por imagem , Pinealoma/diagnóstico por imagem , Adulto JovemRESUMO
MN1 alteration characterizes a recently described group of neuroepithelial tumors with varied morphological features. In cIMPACT-NOW update 6, only those with astroblastoma morphology has been accepted as a newly recognized tumor type, whereas the rest of morphological variants are considered lesions sub-judice. We perform an individual patient data meta-analysis of MN1-altered neuroepithelial tumors comprising a total of 73 cases, in order to study the survival data and predictive markers for better diagnosis and management of this rare molecular entity. The 5- and 10-year progression-free survival are 38% and 0%, whereas the 5- and 10-year overall survival are 89% and 55%, respectively. Among all the morphological variants of MN1-altered tumor, astroblastoma morphology is significantly associated with an improved overall survival, emphasizing the importance of providing an integrated histologic and molecular diagnosis. Histological grading within the molecularly-defined MN1-altered astroblastoma remains controversial. In tumors with astroblastoma morphology, the odds of MN1-altered status among patients less than 15-year-old is 10.5 times that of those 15-year-old and older, and female of 9.4 times that of the male gender. Gross tumor resection appears as main treatment modality for better disease control based on observational data.
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Neoplasias do Sistema Nervoso Central , Neoplasias Neuroepiteliomatosas , Tumores Neuroectodérmicos Primitivos , Fatores Etários , Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Neoplasias do Sistema Nervoso Central/mortalidade , Neoplasias do Sistema Nervoso Central/patologia , Neoplasias do Sistema Nervoso Central/cirurgia , Criança , Feminino , Humanos , Neoplasias Neuroepiteliomatosas/diagnóstico por imagem , Neoplasias Neuroepiteliomatosas/mortalidade , Neoplasias Neuroepiteliomatosas/patologia , Neoplasias Neuroepiteliomatosas/cirurgia , Tumores Neuroectodérmicos Primitivos/diagnóstico , Tumores Neuroectodérmicos Primitivos/patologia , Tumores Neuroectodérmicos Primitivos/cirurgia , Prognóstico , Fatores Sexuais , Transativadores , Proteínas Supressoras de TumorRESUMO
A 38-year-old, previously healthy man presented with blood-stained saliva and epistaxis. A 3 mm nasopharyngeal lesion was found. A biopsy was performed and microscopic examination revealed a Kaposi sarcoma. The patient was subsequently found to be positive for human immunodeficiency virus (HIV). The diagnosis of Kaposi sarcoma in the presence of HIV infection advanced his disease to Acquired Immunodeficiency Syndrome (AIDS). Primary manifestation of Kaposi sarcoma in the nasopharynx is extremely rare. The histologic differential diagnosis of Kaposi sarcoma in this unusual site, especially without the clinical history of immunosuppression, is broad. Awareness that nasopharynx can be a primary involvement site of Kaposi sarcoma and serves as index diagnosis of AIDS is important given its serious clinical implication.
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Síndrome da Imunodeficiência Adquirida/complicações , Neoplasias Nasofaríngeas/etiologia , Sarcoma de Kaposi/etiologia , Adulto , Humanos , Masculino , Neoplasias Nasofaríngeas/patologia , Sarcoma de Kaposi/patologiaRESUMO
Oligodendrogliomas, the third most common primary gliomas, have a strict molecular definition, characterized by the combined presence of isocitrate dehydrogenase mutation and 1p19q codeletion. Herein, we describe an extremely unusual case of molecularly defined anaplastic oligodendroglioma with transdural extension into the frontal and ethmoid sinuses, without prior neurosurgical intervention or radiotherapy. The molecular profile of the tumor is also provided. To the best of our knowledge, this has never been reported before. Most of the previously reported glial tumors with transdural extension were cases of histologically proven glioblastomas and gliosarcomas, typically seen in the context of prior neurosurgical intervention and/or radiotherapy. This case adds to the limited literature on oligodendrogliomas with transdural extension. Further studies are necessary to elucidate the relationship between the incidence of transdural extension and molecular subtypes of oligodendrogliomas.
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Dura-Máter/diagnóstico por imagem , Dura-Máter/cirurgia , Oligodendroglioma/diagnóstico por imagem , Oligodendroglioma/cirurgia , Adulto , Humanos , MasculinoRESUMO
Objectives: The list of tumors involving the pituitary gland has been expanded to include a variety of neuronal and paraneuronal tumors in the 2017 World Health Organization tumor classification of endocrine organs. All the entities included in this category are distinctly rare, with limited case reports in the literature. Methods: We illustrate two extraordinary sellar tumors with neuronal differentiation: a sellar paraganglioma and a sellar neurocytoma, with thorough literature review and comparison of the clinicopathologic features of these entities. Results: Both entities are exceptionally rare and tend to be misdiagnosed as pituitary adenoma preoperatively. Both entities demonstrate frequent clinical recurrence compared with pituitary adenoma, as well as the rare occurrence of metastatic disease. Conclusions: In evaluating a sellar tumor with an uncommon morphology and neuroendocrine differentiation, an increased awareness of the unusual entities that may involve the sellar region and a judicious panel of immunohistochemical studies should improve the diagnosis.
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Adenoma/patologia , Tumores Neuroendócrinos/patologia , Paraganglioma/patologia , Neoplasias Hipofisárias/patologia , Adenoma/classificação , Adenoma/diagnóstico por imagem , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Tumores Neuroendócrinos/classificação , Tumores Neuroendócrinos/diagnóstico por imagem , Paraganglioma/classificação , Paraganglioma/diagnóstico por imagem , Neoplasias Hipofisárias/classificação , Neoplasias Hipofisárias/diagnóstico por imagem , Sela Túrcica/diagnóstico por imagem , Sela Túrcica/patologia , Organização Mundial da SaúdeRESUMO
PURPOSE: To evaluate the rate of discordance of epidermal growth factor receptor (EGFR) mutation between primary lung tumor and paired distant metastases in non-small-cell lung cancer (NSCLC). METHODS: We performed a meta-analysis of 17 studies (518 cases) assessing discordance rates of EGFR mutation in primary tumors and paired distant metastases. We performed subgroup analyses based on EGFR mutation status in primary tumor (mutant or wildtype), site of distant metastasis (bone, central nervous system (CNS) or lung/ pleural), methods of testing (direct sequencing or allele-specific testing) and timing of metastasis (synchronous or metachronous). RESULTS: The overall discordance rate in EGFR mutation was low at 10.36% (95% CI = 4.23% to 18.79%) and varied widely between studies (I2 = 83.18%). The EGFR discordance rate was statistically significantly higher in bone metastases (45.49%, 95% CI = 14.13 to 79.02) than CNS (17.26%, 95% CI = 7.64 to 29.74; P = 0.002) and lung/ pleural metastases (8.17%, 95% CI = 3.35 to 14.85; P < 0.001). Subgroup analyses did not demonstrate any significant effect modification on the discordance rates by the EGFR mutation status in primary lung tumor, methods of testing and timing of metastasis. CONCLUSION: The overall discordance rate in EGFR mutation between primary lung tumor and paired distant metastases in NSCLC is low, although higher discordance rates were observed in bone metastases compared with CNS and lung/pleural metastases. Future studies assessing the impact of EGFR mutation discordance on treatment outcomes are required.
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Neoplasias Ósseas/genética , Carcinoma Pulmonar de Células não Pequenas/genética , Neoplasias do Sistema Nervoso Central/genética , Neoplasias Ósseas/patologia , Neoplasias Ósseas/secundário , Carcinoma Pulmonar de Células não Pequenas/patologia , Carcinoma Pulmonar de Células não Pequenas/secundário , Neoplasias do Sistema Nervoso Central/patologia , Neoplasias do Sistema Nervoso Central/secundário , Receptores ErbB/genética , Humanos , Mutação , Metástase NeoplásicaRESUMO
Myxopapillary ependymomas are a slow-growing, grade I type glial tumor in the lumbosacral region. More rarely, they can present as extradural, subcutaneous sacrococcygeal, or perisacral masses, and it is under these circumstances that they are more likely to spread. Here, we report the presentation of a sacrococcygeal mass in patient that was initially resected confirming extradural myxopapillary ependymoma. At initial resection, multiple small pulmonary nodules were detected. This mass recurred 2 years later at the resection site with an interval increase in the previously imaged pulmonary nodules. Resection of both the post-sacral mass and largest lung metastasis confirmed recurrent myxopapillary ependymoma with oligometastatic spread. Because these tumors are rare, with extradural presentation being even more infrequent, to this date there are no definitive therapeutic guidelines for initial treatment and continued surveillance. For myxopapillary ependymoma, current standard of care is first-line maximal surgical resection with or without postoperative radiotherapy depending on the extent of disease and extent of resection. However, there remains insufficient evidence on the role of radiotherapy to oligometastatic foci in providing any further survival benefit or extending time to recurrence. Thus, prospective studies assessing the role of upfront treatment of oligometastases with local resection and adjuvant radiotherapy are needed for improved understanding of extradural myxopapillary ependymoma.
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Ollier disease (OD) and Maffucci syndrome are rare conditions due to a post-zygotic somatic mutation that results in mosaicism. In addition to enchondromas and hemangiomas, some of these patients also develop other unrelated tumors, such as gliomas, that harbor IDH mutations, suggesting that an IDH mutation is a common genetic event in the tumorigenesis in this group of patients. We illustrate an interesting case of multifocal IDH-mutant astrocytomas in an OD patient with 8 years of follow-up. We first demonstrated identical IDH mutations in the brain tumor samples from various locations in this patient, but different 1p,19q results by fluorescent in-situ hybridization, different whole genome copy number profiles by OncoScan analysis, and a discrepant IDH2M131I mutation unique to one tumor, supporting a multifocal disease process in the setting of somatic IDH mosaicism.
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Astrocitoma/etiologia , Neoplasias Encefálicas/etiologia , Encondromatose/complicações , Encondromatose/genética , Isocitrato Desidrogenase/genética , Mosaicismo , Adulto , Astrocitoma/diagnóstico por imagem , Astrocitoma/patologia , Astrocitoma/cirurgia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/cirurgia , Encondromatose/diagnóstico por imagem , Encondromatose/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Adulto JovemRESUMO
Diagnosis and classification of poorly differentiated tumors with primitive features of the central nervous system heavily relies on molecular and genetic findings of the tumors. Although RB1 gene mutation underlies the development of retinoblastoma and many other systemic cancers, RB1 gene mutation in a brain tumor is mainly limited to infiltrating gliomas. We describe what we believe to be a hitherto unreported case of sellar/suprasellar embryonal tumor with distinctive Flexner-Wintersteiner rosette formation, and somatic RB1 gene mutation in a 5-month-old infant. There were no molecular features associated with the embryonal tumor with multi-layered rosettes, and there were no histological or genetic features of a germ cell tumor. A follow up of 14 months duration showed good clinical response to VETOPEC regimen and no development of retinal disease. Our case shows an interesting association between RB1 mutation and Flexner-Wintersteiner rosettes in an embryonal tumor of the central nervous system and underscores the utility of large scale next generation sequencing in helping to identify the genetic aberrations that may help in clinical pathologic correlations of unusual or out-of-place histologic findings.