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NRAS Q61 mutations are driver genetic alterations associated with common melanocytic nevi. Herein, we describe a case of NRAS-mutant melanocytic tumor with a blue nevus-like morphology. A 71-year-old Japanese man presented with a 4.6-mm nodule on his back. Histopathological examination revealed a dense distribution of spindle-shaped melanocytes in the upper dermis and a sparse distribution of dendritic melanocytes in the mid-dermis. The vertical periadnexal extension reached the deep dermis at the center of the tumor. A small junctional component, hyperpigmentation, sclerotic stroma, mild nuclear atypia, and a few mitotic figures were observed. Immunohistochemical examination revealed no PRAME expression and preserved p16 expression. Diffuse RASQ61R immunoreactivity was observed in these tumor cells. Nuclear ß-catenin expression was not observed. Targeted RNA sequencing revealed two mutations, NRAS c.182A>G (Q61R) and FGFR2 c.-157A>G, but no other pathogenic alterations such as BRAF, GNAQ, GNA11, CTNNB1, PRKAR1A, or IDH1 mutations or kinase gene fusions. The histopathology fits that of compound-type blue nevus, which is called "Kamino nevus"; however, this tumor was genetically considered to be on the spectrum of conventional acquired melanocytic nevi but not on that of blue nevi. Morphologically, NRAS-driven melanocytic nevi resemble blue nevi without IDH1R132C coexistence.
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Apocrine carcinoma cases with sebaceous differentiation have not been reported and can be misdiagnosed as sebaceous carcinoma. We present two cases of apocrine carcinoma with marked sebocyte-like cytological features. Tumors were observed in the left axilla of a 68-year-old man (Case 1) and the right axilla of a 72-year-old man (Case 2). Both patients presented with multiple lymph node metastases. Histopathology revealed densely distributed solid nests of tumor cells containing foamy cytoplasm and enlarged round nuclei with prominent nucleoli. The tumor cells diffusely expressed adipophilin, PRAME (cytoplasmic pattern), androgen receptor, BerEP4, and GCDFP15 but did not express p63 in both cases. PIK3CA E726K and H1047R mutations were detected in Cases 1 and 2, respectively. Tumor location in the axilla, the presence of eosinophilic granular cytoplasm, prominent nucleoli, and PIK3CA mutations, immunoreactivity for BerEP4 and GCDFP15, and lack of p63 immunoexpression findings matched apocrine carcinoma characteristics, but not sebaceous carcinoma. Thus, apocrine carcinoma can demonstrate intracytoplasmic lipid accumulation and rarely exhibit sebocyte-like cytological features. Apocrine carcinoma should be distinguished from sebaceous carcinoma due to the former's higher metastatic potential and lack of association with Muir-Torre syndrome.
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Adenocarcinoma Sebáceo , Carcinoma de Apéndice Cutáneo , Síndrome de Muir-Torre , Neoplasias de las Glándulas Sebáceas , Neoplasias de las Glándulas Sudoríparas , Masculino , Humanos , Anciano , Adenocarcinoma Sebáceo/patología , Neoplasias de las Glándulas Sudoríparas/patología , Células Epiteliales/patología , Neoplasias de las Glándulas Sebáceas/diagnóstico , Neoplasias de las Glándulas Sebáceas/patología , Antígenos de NeoplasiasRESUMEN
BACKGROUND: The International Federation of Gynecology and Obstetrics (FIGO) revised the staging system of endometrial cancer in 2023. In this study, we aimed to determine stage transitions and prognosis of endometrial cancer using FIGO2008, FIGO2023 without molecular classification (FIGO2023), and FIGO2023 with molecular classification (FIGO2023m). METHODS: Eighty-three patients diagnosed with endometrial cancer who underwent surgery and next-generation sequencing (NGS) molecular profiling as part of the Project HOPE cohort study were enrolled. Each case was staged according to the FIGO2008 and FIGO2023 criteria, and we evaluated changes in stage and disease-specific survival (DSS). Molecular classification based on NGS was performed to evaluate FIGO2023m, and the concordance rate with immunohistochemical marker analysis was assessed. RESULTS: Transitioning from FIGO2008 to FIGO2023 resulted in the restaging of 18 cases. Conversely, transitioning from FIGO2008 to FIGO2023m led to the restaging of 15 cases. The concordance rate between FIGO2023 and FIGO2023m staging was 96.4%. With FIGO2023m, the 5-year DSS was 97.6% for stage I (95% confidence interval [CI] 83.9-99.7), 83.3% for stage II (95% CI 56.8-94.3), 100% for stage III (95% CI NA), and 25.0% for stage IV (95% CI 0.9-66.5). Discrepancies in disease staging due to discordance between simplified surrogate marker analysis and NGS evaluation occurred in two cases. CONCLUSIONS: The revision of the staging system from FIGO2008 to FIGO2023 and FIGO2023m resulted in the restaging of several cases, with significant changes between stages I and II.
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ABSTRACT: A case of 67-year-old male patient with superficial papular neuroma (SPN) on the occiput is reported. This is the second report of SPN and the first with clinical images. Histologically, in the superficial dermis and periadnexa, the specimen exhibits a nodule of bland spindle cells with an S-shaped and spindle nucleus, surrounded by eosinophilic collagen fibers and scattered mast cells, which forms focally peripheral nerve-like structures. Lichen simplex chronicus-like changes are observed. Immunostaining result revealed that the tumor cells are positive for S-100, neurofilament, collagen IV, and CD34 but negative for Melan A, epithelial membrane antigen, and glial fibrillary acidic protein. Histological differential diagnosis includes prurigo nodularis, neurotized nevus, benign peripheral nerve sheath tumor, such as neurofibroma or schwannoma, a type of neuroma, such as traumatic neuroma, mucosal neuroma, and palisaded encapsulated neuroma, or a type of neural hamartoma. A careful histological investigation will enable dermatopathologists to make a diagnosis of SPN.
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Neoplasias de la Vaina del Nervio , Neurilemoma , Neurofibroma , Neuroma , Masculino , Humanos , Anciano , Neuroma/patología , Neoplasias de la Vaina del Nervio/patología , Neurilemoma/patología , Neurofibroma/patología , Proteínas S100 , ColágenoRESUMEN
ABSTRACT: Information regarding the genetic alterations in extramammary Paget disease (EMPD) is scarce. This study investigated the significance of CDKN2A and MTAP alterations in EMPD progression using immunohistochemistry and panel DNA sequencing. In total, 24 invasive/metastatic EMPD cases were included in this study. The immunoexpression of p16 and MTAP in the primary in situ, primary invasive, and metastatic tumor components was evaluated. Panel DNA sequencing was performed for metastatic tumor components in 5 of the 24 cases. Immunoexpression of p16 in the in situ tumor component was at least partially preserved in all 19 tested cases (100%). By contrast, the invasive tumor component was diffusely or partially lost in 18 (81.8%) of 22 tested cases. Regarding the foci of lymph node metastasis, 13 (81.2%) of the 16 patients showed a significant loss of p16 expression. Loss of MTAP immunoexpression was observed less frequently compared with the loss of p16 expression. CDKN2A homozygous deletions were confirmed in all 5 tested cases by sequencing, whereas MTAP deletions were detected in only 2 cases. In conclusion, p16 expression loss and CDKN2A deletions can be frequently seen in invasive/metastatic cases of EMPD.
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Inhibidor p16 de la Quinasa Dependiente de Ciclina , Progresión de la Enfermedad , Inmunohistoquímica , Enfermedad de Paget Extramamaria , Neoplasias Cutáneas , Humanos , Enfermedad de Paget Extramamaria/genética , Enfermedad de Paget Extramamaria/patología , Enfermedad de Paget Extramamaria/metabolismo , Masculino , Femenino , Anciano , Inhibidor p16 de la Quinasa Dependiente de Ciclina/genética , Persona de Mediana Edad , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Anciano de 80 o más Años , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/análisis , Invasividad Neoplásica , Purina-Nucleósido Fosforilasa/genética , Eliminación de Gen , Metástasis Linfática/genéticaRESUMEN
Lung cancer constitutes a threat to human health. BHLHE41 plays important roles in circadian rhythm and cell differentiation as a negative regulatory transcription factor. This study investigates the role of BHLHE41 in lung cancer progression. We analyzed BHLHE41 function via in silico and immunohistochemical studies of 177 surgically resected non-small cell lung cancer (NSCLC) samples and 18 early lung squamous cell carcinoma (LUSC) cases. We also examined doxycycline (DOX)-inducible BHLHE41-expressing A549 and H2030 adenocarcinoma cells. BHLHE41 expression was higher in normal lung than in lung adenocarcinoma (LUAD) tissues and was associated with better prognosis for the overall survival (OS) of patients. In total, 15 of 132 LUAD tissues expressed BHLHE41 in normal lung epithelial cells. Staining was mainly observed in adenocarcinoma in situ and the lepidic growth part of invasive cancer tissue. BHLHE41 expression constituted a favorable prognostic factor for OS (p = 0.049) and cause-specific survival (p = 0.042) in patients with LUAD. During early LUSC, 7 of 18 cases expressed BHLHE41, and this expression was inversely correlated with the depth of invasion. DOX suppressed cell proliferation and increased the autophagy protein LC3, while chloroquine enhanced LC3 accumulation and suppressed cell death. In a xenograft model, DOX suppressed tumor growth. Our results indicate that BHLHE41 expression prevents early lung tumor malignant progression by inducing autophagic cell death in NSCLC.
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Adenocarcinoma del Pulmón/metabolismo , Adenocarcinoma del Pulmón/patología , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/metabolismo , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/patología , Células A549 , Adulto , Anciano , Anciano de 80 o más Años , Animales , Muerte Celular Autofágica/efectos de los fármacos , Carcinoma de Pulmón de Células no Pequeñas/metabolismo , Carcinoma de Pulmón de Células no Pequeñas/patología , Doxiciclina/farmacología , Femenino , Humanos , Estimación de Kaplan-Meier , Masculino , Ratones , Ratones Endogámicos BALB C , Ratones Desnudos , Persona de Mediana Edad , Pronóstico , Modelos de Riesgos Proporcionales , Ensayos Antitumor por Modelo de XenoinjertoRESUMEN
Central nervous system tumors are classified based on an integrated diagnosis combining histology and molecular characteristics, including IDH1/2 and H3-K27M mutations, as well as 1p/19q codeletion. Here, we aimed to develop and assess the feasibility of a glioma-tailored 48-gene next-generation sequencing (NGS) panel for integrated glioma diagnosis. We designed a glioma-tailored 48-gene NGS panel for detecting 1p/19q codeletion and mutations in IDH1/2, TP53, PTEN, PDGFRA, NF1, RB1, CDKN2A/B, CDK4, and the TERT promoter (TERTp). We analyzed 106 glioma patients (grade II: 19 cases, grade III: 23 cases, grade IV: 64 cases) using this system. The 1p/19q codeletion was detected precisely in oligodendroglial tumors using our NGS panel. In a cohort of 64 grade â £ gliomas, we identified 56 IDH-wildtype glioblastomas. Within these IDH-wildtype glioblastomas, 33 samples (58.9%) showed a mutation in TERTp. Notably, PDGFRA mutations and their amplification were more commonly seen in TERTp-wildtype glioblastomas (43%) than in TERTp-mutant glioblastomas (6%) (P = .001). Hierarchical molecular classification of IDH-wildtype glioblastomas revealed 3 distinct groups of IDH-wildtype glioblastomas. One major cluster was characterized by mutations in PDGFRA, amplification of CDK4 and PDGFRA, homozygous deletion of CDKN2A/B, and absence of TERTp mutations. This cluster was significantly associated with older age (P = .021), higher Ki-67 score (P = .007), poor prognosis (P = .012), and a periventricular tumor location. We report the development of a glioma-tailored NGS panel for detecting 1p/19q codeletion and driver gene mutations on a single platform. Our panel identified distinct subtypes of IDH- and TERTp-wildtype glioblastomas with frequent PDGFRA alterations.
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Glioblastoma/genética , Isocitrato Deshidrogenasa/genética , Receptor alfa de Factor de Crecimiento Derivado de Plaquetas/genética , Telomerasa/genética , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Glioblastoma/clasificación , Glioblastoma/patología , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Persona de Mediana Edad , Proteínas de Neoplasias/genética , Regiones Promotoras Genéticas/genéticaRESUMEN
Nivolumab and pembrolizumab are humanized IgG4 monoclonal antibodies against programmed cell death 1 (PD-1). Although these agents are effective in treating advanced melanoma, non-small-cell lung carcinoma, and other types of cancers, various adverse events have been reported. Cutaneous adverse events are particularly prevalent and, while granulomatous/sarcoid-like reactions are uncommon, they are increasingly recognized as immune-related adverse events associated with immune checkpoint inhibitors. Herein, we report two cases of granulomatous/sarcoid-like reaction with foreign material, mimicking metastatic malignancy after PD-1 inhibitor treatment. Clinicians should be aware of the existence of cutaneous lesions and perform biopsy if needed to prevent misdiagnosis and unnecessary adjustments to immunotherapy.
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Erupciones por Medicamentos , Melanoma , Proteínas de Neoplasias/antagonistas & inhibidores , Nivolumab/efectos adversos , Receptor de Muerte Celular Programada 1/antagonistas & inhibidores , Neoplasias del Recto , Anciano , Erupciones por Medicamentos/diagnóstico , Erupciones por Medicamentos/metabolismo , Erupciones por Medicamentos/patología , Humanos , Masculino , Melanoma/diagnóstico , Melanoma/tratamiento farmacológico , Melanoma/metabolismo , Melanoma/patología , Metástasis de la Neoplasia , Proteínas de Neoplasias/metabolismo , Nivolumab/administración & dosificación , Receptor de Muerte Celular Programada 1/metabolismo , Neoplasias del Recto/diagnóstico , Neoplasias del Recto/tratamiento farmacológico , Neoplasias del Recto/metabolismo , Neoplasias del Recto/patologíaAsunto(s)
Glándulas Apocrinas , Fosfatidilinositol 3-Quinasa Clase I , Hiperplasia , Neoplasias de las Glándulas Sudoríparas , Humanos , Glándulas Apocrinas/patología , Hiperplasia/patología , Hiperplasia/genética , Femenino , Masculino , Fosfatidilinositol 3-Quinasa Clase I/genética , Neoplasias de las Glándulas Sudoríparas/genética , Neoplasias de las Glándulas Sudoríparas/patología , Persona de Mediana Edad , Mutación , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Anciano , Adulto , Nevo/patología , Nevo/genéticaRESUMEN
Small cell lung cancer (SCLC) constitutes approximately 15% of all diagnosed lung cancers. SCLC is a particularly lethal malignancy, as the 2-year survival rate after appropriate treatment is less than 5%. The patients with SCLC have not been received a benefit of the recently developed molecular targeted treatment. Therefore, a new treatment strategy is necessary for the patients. The molecular mechanisms underlying the aggressiveness of SCLC cells and their development of treatment-resistance are still ambiguous. In this study, we newly constructed a microRNA (miRNA) expression signature of SCLC by analysis of autopsy specimens. Based on the resultant signature, four miRNAs (miR-27a-5p, miR-485-3p, miR-34-5p and miR-574-3p) were found to be candidate anti-tumor miRNAs. To investigate their functional importance, we first validated the downregulation of miR-27a-5p and miR-34b-3p in SCLC clinical specimens. Next, we demonstrated that ectopic expression of both miR-27a-5p and miR-34b-3p significantly inhibited cancer cell aggressiveness. Our in silico analyses showed that four genes (topoisomerase 2 alpha (TOP2A), maternal embryonic leucine zipper kinase (MELK), centromere protein F (CENPF) and SRY-box 1 (SOX1) were identified as miR-27a-5p- and miR-34b-3p-regulated genes. Based on immunohistochemical analysis, TOP2A, MELK and CENPF were involved in SCLC pathogenesis. These genes might contribute to high proliferation and early metastatic spread of SCLC cells. Elucidation of differentially expressed miRNA-mediated cancer pathways based on SCLC signature may provide new insights into the mechanisms of SCLC pathogenesis.
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Perfilación de la Expresión Génica , Regulación Neoplásica de la Expresión Génica , Neoplasias Pulmonares/genética , MicroARNs/genética , Oncogenes , Carcinoma Pulmonar de Células Pequeñas/genética , Anciano , Anciano de 80 o más Años , Autopsia , Línea Celular Tumoral , Movimiento Celular/genética , Proliferación Celular , Regulación hacia Abajo/genética , Femenino , Humanos , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/patología , Masculino , MicroARNs/metabolismo , Persona de Mediana Edad , Invasividad Neoplásica , Carcinoma Pulmonar de Células Pequeñas/diagnóstico por imagen , Carcinoma Pulmonar de Células Pequeñas/patologíaRESUMEN
AIMS: Angiofibroma of soft tissue (AFST) is a rare soft tissue neoplasm characterized by a fibroblastic cytomorphology and a prominent vascular structure. AFSTs possess a novel fusion gene, i.e. NCOA2-AHRR/AHRR-NCOA2 or GTF2I-NCOA2, providing a useful approach to diagnosing AFST. Morphologically, AFSTs span a wide spectrum, making diagnosis a challenge. The aim of this study was to review AFST cases and to report previously unknown histological features, which we confirmed by genetic analysis. METHODS AND RESULTS: We reviewed 276 cases diagnosed as solitary fibrous tumours/haemangiopericytomas (232 cases), unclassified tumours of fibroblastic differentiation (36 cases), and recently diagnosed AFSTs (eight cases), and retrieved 13 cases compatible with AFST. Immunohistochemical staining was performed for these cases, all 13 of which were analysed by reverse transcription polymerase chain reaction and fluorescence in-situ hybridization. The histological findings were as follows: amianthoid fibres, extravasation of red blood cells, haemosiderin deposition, aggregates of foamy histiocytes, cystic change, necrosis, and haemorrhage. Immunohistochemically, the tumour cells were positive for epithelial membrane antigen (four of 13 cases), desmin (six of 13 cases), CD163 (13 of 13 cases), CD68 (seven of 13 cases), oestrogen receptor (13 of 13 cases), progesterone receptor (three of 13 cases), and STAT6 (one of 13 cases, weak nuclear staining), but they were negative for CD34, α-smooth muscle actin, muscle-specific actin, S100, pan-cytokeratin, MDM2, and CDK4. The AHRR-NCOA2 fusion gene was detected in eight cases, and NCOA2 gene rearrangement in nine cases. CONCLUSION: We revealed the previously unreported histological variation and immunohistochemical findings of AFST, and confirmed them by using genetic methods. The results suggested that AFST should be considered in the diagnosis of fibrous or fibrohistiocytic tumours with the above histological features.
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Angiofibroma/genética , Angiofibroma/patología , Neoplasias de los Tejidos Blandos/genética , Neoplasias de los Tejidos Blandos/patología , Adulto , Anciano , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/genética , Femenino , Reordenamiento Génico , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad , Coactivador 2 del Receptor Nuclear/genética , Fusión de Oncogenes/genética , Proteínas Represoras/genética , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
We reported a case of metastatic lung tumor, which was suspected as being a primary lung cancer because of its accompanying lesion mimicking atypical adenomatous hyperplasia(AAH) based on intraoperative needle biopsy findings. AAH is a preinvasive lesion or marginal lesion of primary lung cancer that is not accompanied by metastatic tumor. However, it needs to be distinguished pathologically from secondary changes of inflammation or fibrosis. In our case, the needle biopsy revealed AAH-like pathological findings, which indicates a primary lung cancer, and the standard lobectomy with lymph node dissection was performed, however, the final diagnosis turned out to be metastatic tumor. The rapidly enlarging tumor led to surrounding obstructive pneumonitis, which may have caused pathological changes mimicking AAH findings. In the case of obstructive pneumonitis, we must be careful to diagnose AAH, in addition to decisions about the surgical procedure especially when based on frozen section diagnosis.
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Diagnóstico Diferencial , Hiperplasia/diagnóstico , Neoplasias Pulmonares/patología , Biopsia con Aguja , Femenino , Humanos , Hiperplasia/patología , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/secundario , Neoplasias Pulmonares/cirugía , Escisión del Ganglio Linfático , Persona de Mediana Edad , Neumonectomía , Neoplasias del Recto/patología , Tomografía Computarizada por Rayos XAsunto(s)
Adenoma Pleomórfico/diagnóstico , Cuello del Útero/patología , Citodiagnóstico , Neoplasias del Cuello Uterino/diagnóstico , Adenoma Pleomórfico/patología , Adenoma Pleomórfico/virología , Adulto , Cuello del Útero/virología , Femenino , Humanos , Persona de Mediana Edad , Neoplasias del Cuello Uterino/patología , Neoplasias del Cuello Uterino/virología , Frotis VaginalRESUMEN
We report two autopsy cases of severe fever with thrombocytopenia syndrome (SFTS) with a high fatality rate in aged Japanese patients. Both cases were caused by a tick-bite. The pathognomonic histological feature was necrotizing lymphadenitis of systemic lymphoid tissue with SFTS viruses and SFTSV-RNA copies. Marked fungal infections were also observed in the lungs of both patients. Since cellular immune function may be suppressed in SFTS patients, physicians should be aware of possible fungal infections.
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Phlebovirus/aislamiento & purificación , Trombocitopenia/patología , Anciano de 80 o más Años , Autopsia , Médula Ósea/patología , Femenino , Fiebre/diagnóstico , Humanos , Japón , Pulmón/patología , Masculino , Trombocitopenia/virologíaRESUMEN
Sweat-gland carcinoma with neuroendocrine differentiation (SCAND) was recently proposed as a new cutaneous adnexal neoplasm with neuroendocrine differentiation; however, its genetics are not well known. Herein, we performed clinicopathologic and genetic analyses of 13 SCAND cases and 5 control cases of endocrine mucin-producing sweat gland carcinoma (EMPSGC). The SCAND group included 11 males and 2 females with a median age of 68 years (range, 50 to 80 y). All SCAND lesions occurred in the ventral trunk or genital area. Of the 13 SCAND cases, 9 and 5 exhibited lymph node and distant metastases, respectively. Three (23.1%) patients with SCAND died of the disease. In contrast, neither metastasis nor mortality was confirmed in the EMPSGC cases. Immunoexpression of the androgen receptor, c-Myb, and MUC2 was limited in SCAND, whereas EMPSGC frequently expressed these immunomarkers. GATA3 P409Afs*99 extension mutations were detected in 7 (53.8%) of the 13 SCAND cases, using Sanger or panel sequencing. All 7 SCAND cases with GATA3 mutations were located in the genital, inguinal, or lower abdominal regions, whereas 5 of the other 6 SCAND cases were located in the anterior upper to mid-trunk. No GATA3 mutations were detected in the EMPSGC cases (0/5, 0%). These clinicopathologic and genetic findings support SCAND as a tumor entity distinguishable from EMPSGC. In addition, the characteristic frameshift extension mutations in GATA3 contribute to the establishment of the tumor-type concept of SCAND.
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Adenocarcinoma Mucinoso , Neoplasias Quísticas, Mucinosas y Serosas , Tumores Neuroendocrinos , Neoplasias de las Glándulas Sudoríparas , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adenocarcinoma Mucinoso/patología , Factor de Transcripción GATA3/genética , Mutación , Neoplasias de las Glándulas Sudoríparas/genética , Neoplasias de las Glándulas Sudoríparas/patologíaRESUMEN
BACKGROUND: Castleman's disease is a rare disease characterized by lymph node hyperplasia. Its occurrence in the retroperitoneal space has rarely been reported, making its preoperative diagnosis difficult. Here, we report a case of retroperitoneal Castleman's disease, which radiologically resembled paraspinal schwannoma. CASE PRESENTATION: A 33-year-old Japanese man with epigastric discomfort underwent abdominal ultrasonic examination revealing a solid mass next to the right kidney. Computed tomography demonstrated a well-circumscribed mass with central calcification in the right psoas muscle. Because the mass presented a dumbbell-like shape extending to the intervertebral foramen, neurogenic tumor was suspected. Both iodine-123 metaiodobenzylguanidine and gallium-67 scintigraphies were negative in the mass, whereas thallium-201 mildly accumulated in the tumor, suggesting blood flow to the tumor. Positron emission tomography revealed accumulation of fluorine-18-2-fluoro-2-deoxy-d-glucose in the tumor at a standard uptake value of 4.7, whereas no other abnormal uptake suggestive of metastatic lesion was noted. On the basis of imaging studies, we mostly suspected paraspinal schwannoma, although malignancy was not completely excluded. Angiography showed feeding vessels from the right lumbar arteries, which were embolized with porous gelatin particles in order to reduce intraoperative bleeding. Surgical resection was performed using a retroperitoneal approach, which revealed the tumor in the swollen psoas muscle. Intraoperative pathological examination of a frozen section revealed no evidence of malignancy; thus, marginal excision of the tumor was performed. The tumor adhered tightly to surrounding muscle tissues, resulting in 940 g of intraoperative blood loss. The pathological examination demonstrated infiltration of lymphocytes surrounding small germinal centers with extensive capillary proliferation. Immunostaining revealed that proliferated lymphocytes were CD3-negative and CD79a-positive. CONCLUSIONS: Although a dumbbell-shaped mass in a paraspinal region is indicative of a schwannoma for orthopedic surgeons, the possibility of Castleman's disease should be considered if a central low-signal area in fissured and a radial pattern is detected on computed tomography or magnetic resonance imaging. Appropriate preparation for massive bleeding during the treatment of Castleman's disease, including angiography and embolization, would be helpful for performing surgical procedures safely.
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Enfermedad de Castleman/diagnóstico , Neurilemoma/diagnóstico , Espacio Retroperitoneal/patología , Neoplasias de la Columna Vertebral/diagnóstico , Adulto , Angiografía , Enfermedad de Castleman/cirugía , Diagnóstico Diferencial , Fluorodesoxiglucosa F18 , Humanos , Masculino , Neurilemoma/cirugía , Tomografía de Emisión de Positrones , Pronóstico , Radiofármacos , Espacio Retroperitoneal/cirugía , Neoplasias de la Columna Vertebral/cirugía , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Sellar neuroblastoma is a very rare entity. We report a rare case of arginine vasopressin (AVP)- producing sellar neuroblastoma presumed to have originated from the lower part of sellar turcica, which grew very rapidly. CASE DESCRIPTION: A 33-year-old woman was found to have a sellar lesion with a diameter of 18 mm invading into the bilateral cavernous sinus on magnetic resonance imaging (MRI) performed for dizziness. Six years later, when she visited the clinic due to bilateral visual disturbance, MRI showed a rapid growth of the tumor, with a maximal diameter of 56 mm at the current state, strongly compressing the optic nerve and chiasm. Transsphenoidal decompression of the optic chiasm revealed an intact pituitary gland on the top of the tumor. The tumor was composed of neoplastic cells that were immunohistochemically positive for neuronal markers and arginine vasopressin (AVP), but negative for all anterior pituitary hormones, glial fibrillary acidic protein, or thyroid transcription factor-1; these findings were suggestive of sellar neuroblastoma. She underwent 50-Gy radiation therapy, which has controlled the growth for the past 3 years. CONCLUSION: Awareness of rare sellar neuroblastomas will allow the accumulation of clinicopathologic information that may facilitate the understanding of their origin, clinical features, neuroimaging characteristics, and pertinent adjuvant treatment.
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BACKGROUND: Primary central nervous system lymphoma (PCNSL) is one of the least common malignant brain tumors. It is usually diagnosed initially as diffuse large B cell lymphoma (DLBCL). In rare cases, however, a demyelinating lesion referred to as a "sentinel lesion" precedes the actual diagnosis, which usually depicts two distinct patterns of inflammatory cells during histological analysis. This case report describes a unique histological finding and describes the recognized variations in sentinel lesion histopathology. CASE DESCRIPTION: A 78-year-old female patient was found to have multiple white matter lesions of various degrees of enhancement on post-contrast T1-weighted magnetic resonance imaging. A stereotactic biopsy of a heterogeneous lesion in the left occipital lobe was performed, which revealed demyelination along with lymphocytic infiltration, reactive astrocytosis, abundant T cells, and foamy macrophages. There was no evidence of monoclonality, rapid regression of all lesions occurred, and the patient was thus treated for tumefactive demyelination. Three months later, all of the residual lesions had enlarged and were homogeneously enhancing. An endoscopic-guided biopsy of the right periventricular lesion showed diffuse atypical lymphoid cells. CONCLUSION: The sentinel lesion of PCNSL expresses a variable histological pattern of inflammatory cells. This case demonstrates a unique and rare picture of mixed perivascular and parenchymal infiltration of inflammatory cells, highlighting the importance of repeated biopsies and/or radiological examinations to obtain an accurate diagnosis.
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BACKGROUND: Liquid-based cytology (LBC) is now a widely used method for cytologic screening and cancer diagnosis. Since the cells are fixed with alcohol-based fixatives, and the specimens are stored in a liquid condition, LBC specimens are suitable for genetic analyses. METHODS: Here, we established a small cancer gene panel, including 60 genes and 17 microsatellite markers for next-generation sequencing, and applied to residual LBC specimens obtained by endometrial cancer screening to compare with corresponding formalin-fixed paraffin-embedded (FFPE) tissues. RESULTS: A total of 49 FFPE and LBC specimens (n = 24) were analyzed, revealing characteristic mutations for endometrial cancer, including PTEN, CTNNB1, PIK3CA, and PIK3R1 mutations. Eight cases had higher scores for both tumor mutation burden (TMB) and microsatellite instability (MSI), which agree with defective mismatch repair (MMR) protein expression. Paired endometrial LBC, and biopsied and/or resected FFPE tissues from 7 cases, presented almost identical mutations, TMB, and MSI profiles in all cases. CONCLUSION: These findings demonstrate that our ad hoc cancer gene panel enabled the detection of therapeutically actionable gene mutations in endometrial LBC and FFPE specimens. Endometrial cancer LBC specimens offer an alternative and affordable source of molecular testing materials.