RESUMO
The understanding of schwannoma tumorigenesis has been reshaped by the recent identification of SH3PXD2A::HTRA1 fusion in 10% of intracranial/spinal schwannomas. Nonetheless, pathologic features of schwannomas harboring this fusion, as well as its prevalence outside intracranial/spinal locations, have not been characterized. We screened 215 consecutive schwannomas for their clinicopathologic characteristics and fusion status using reverse-transcriptase polymerase chain reaction (RT-PCR). Among 29 (13.5%) fusion-positive schwannomas, the most prevalent location was peripheral somatic tissue (30.7%, 19/62), followed by spinal/paraspinal (18.4%, 7/38), body cavity/deep structures (10%, 2/20), intracranial (1.3%, 1/75), and viscera (0/13). All 8 cellular, 4 microcystic/reticular, and 3 epithelioid schwannomas were fusion-negative, as were 41/42 nonschwannomatous peripheral nerve sheath tumors. Remarkably, a distinct 'serpentine' palisading pattern, comprising ovoid/plump cells shorter than usual schwannian cells in a hyalinized stroma, was identified in most fusion-positive cases and the schwannomatous component of the only fusion-positive malignant peripheral nerve sheath tumor. To validate this finding, 60 additional cases were collected, including 36 with (≥10% arbitrarily) and 24 without appreciable serpentine histology, of which 29 (80.6%) and 2 (8.3%) harbored the fusion, respectively. With percentages of 'serpentine' areas scored, 10% was determined as the optimal practical cut-off to predict the fusion status (sensitivity, 0.950; specificity, 0.943). Fusion positivity was significantly associated with serpentine histology, smaller tumors, younger patients, and peripheral somatic tissue, while multivariate logistic linear regression analysis only identified serpentine histology and location as independent fusion-predicting factors. RNA in situ hybridization successfully detected the fusion junction, highly concordant with RT-PCR results. Gene expression profiling on 18 schwannomas demonstrated segregation largely consistent with fusion status. Fusion-positive cases expressed significantly higher HTRA1 mRNA abundance, perhaps exploitable as a biomarker. In summary, we systematically characterize a series of 60 SH3PXD2A::HTRA1 fusion-positive schwannomas, showing their distinctive morphology and location-specific prevalence for the first time.
Assuntos
Neoplasias de Bainha Neural , Neurilemoma , Humanos , Neurilemoma/patologia , Neoplasias de Bainha Neural/patologia , Transformação Celular Neoplásica , Proteínas Adaptadoras de Transporte VesicularRESUMO
Extraskeletal myxoid chondrosarcoma (EMC) is an ultrarare sarcoma typically exhibiting myxoid/reticular histology and NR4A3 translocation. However, morphologic variants and the relevance of non-EWSR1::NR4A3 fusions remain underexplored. Three challenging pan-Trk-expressing cases, featuring cellular to solid histology, were subjected to RNA exome sequencing (RES), unveiling different NR4A3-associated fusions. Alongside RES-analyzed cases, fluorescence in situ hybridization was performed to confirm 58 EMCs, with 48 available for pan-Trk immunostaining and KIT sequencing. Except for 1 (2%) NR4A3-rearranged EMC without identifiable partners, 46 (79%), 9 (16%), and 2 (3%) cases harbored EWSR1::NR4A3, TAF15::NR4A3, and TCF12::NR4A3 fusions, respectively. Five EWSR1::NR4A3-positive EMCs occurred in the subcutis (3) and bone (2). Besides 43 classical cases, there were 8 cellular, 4 rhabdoid/anaplastic, 2 solid, and 1 mixed tumor-like variants. Tumor cells were oval/spindle to pleomorphic and formed loose myxoid/reticular to compact sheet-like or fascicular patterns, imparting broad diagnostic considerations. RES showed upregulation of NTRK2/3, KIT, and INSM1. Moderate-to-strong immunoreactivities of pan-Trk, CD117, and INSM1 were present in 35.4%, 52.6%, and 54.6% of EMCs, respectively. KIT p. E554K mutation was detected in 2/48 cases. TAF15::NR4A3 was significantly associated with size >10 cm (78%, P = .025). Size >10 cm, moderate-to-severe nuclear pleomorphism, metastasis at presentation, TAF15::NR4A3 fusion, and the administration of chemotherapy portended shorter univariate disease-specific survival, whereas only size >10 cm (P = .004) and metastasis at presentation (P = .032) remained prognostically independent. Conclusively, EMC may manifest superficial or osseous lesions harboring EWSR1::NR4A3, underrecognized solid or anaplastic histology, and pan-Trk expression, posing tremendous challenges. Most TAF15::NR4A3-positive cases were >10 cm in size, ie, a crucial independent prognosticator, whereas pathogenic KIT mutation rarely occurred.
Assuntos
Condrossarcoma , Receptores de Esteroides , Sarcoma , Fatores Associados à Proteína de Ligação a TATA , Humanos , Hibridização in Situ Fluorescente , Proteínas de Fusão Oncogênica/genética , Proteínas de Fusão Oncogênica/metabolismo , Condrossarcoma/genética , Condrossarcoma/diagnóstico , Sarcoma/genética , Fatores Associados à Proteína de Ligação a TATA/genética , Proteínas Repressoras/genética , Proteínas de Ligação a DNA/genética , Receptores de Esteroides/genética , Receptores dos Hormônios Tireóideos/genéticaRESUMO
BACKGROUND: Accumulating evidence shows that high expression of casein kinase 2 (CK2) and phosphorylated acetyl CoA carboxylase (pACC) in patients with squamous cell carcinoma of the head and neck (SCCHN) correlates with decreased survival rates. Computational analysis has shown that ACC is a potential substrate for CK2, and its inhibition can suppress ACC phosphorylation in vitro. CX-4945, also known as silmitasertib, is an orally administered, highly specific, ATP-competitive inhibitor of CK2 and is under clinical investigation as a treatment for malignancies. We hypothesize that inhibition of CK2 by CX-4945 can reduce CK2-downstream phosphorylation of ACC as a therapeutic strategy against SCCHN. METHODS: Three aggressive SCCHN cell lines (OSC-19, FaDu and HN31) were cultured to investigate the anticancer mechanism of the CK2 inhibitor, CX-4945. Cell cycle analysis, Annexin V/PI staining, and cleavage of PARP were performed to detect apoptosis. Western blot, electron microscopy and analysis of acidic vesicular organelle development were used to detect autophagy. Interference with cellular metabolism by CX-4945 treatment was determined by Seahorse XF24 Extracellular Flux Analyzer and mass spectrometry. RESULTS: Cellular metabolism was impeded by CX-4945 in aggressive SCCHN cells by Seahorse XF24 Extracellular Flux Analyzer and mass spectrometry, and consequently time- and dose-dependent lipid droplet accumulation and non-apoptotic cell death were observed. The lipogenic enzyme ACC was demonstrated to be associated with CK2, and its repressive phosphorylation could be removed by the CK2 inhibitor CX-4945. Overexpression of ACC resulted in impaired cell survival following transient transfection. CONCLUSION: The findings demonstrate that CK2 inhibition impairs normal cellular energy metabolism and may be an attractive therapy for treating aggressive SCCHN.
Assuntos
Caseína Quinase II , Neoplasias de Cabeça e Pescoço , Humanos , Gotículas Lipídicas , Morte Celular , Fenazinas , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Linhagem Celular TumoralRESUMO
Neuroendocrine carcinomas (NECs) are rare, but aggressive malignant tumors of the female genital tract, especially in the uterine the cervix. Beside histologic morphology, positivity of neuroendocrine markers with immunohistochemistry plays an important role in diagnosis of NECs. Insulinoma-associated protein 1 (INSM1) is a novel marker reported to be widely expressed in a variety of neuroendocrine tumors. A previous study also suggested INSM1 has superior performance to conventional neuroendocrine markers in cervical NECs. In our present study, comparison between immunomarkers was performed in female genital tract NECs. Forty-nine patients with gynecologic NECs (4 vagina, 39 cervix, 5 endometrium, 1 ovary) were included from 1993 to 2019 at our center. Immunohistochemistry was performed with INSM1, CD56, synaptophysin (SYN), chromogranin-A (CgA), and thyroid transcription factor 1 (TTF1). The results show INSM1 has superior sensitivity and intensity compared with CD56, SYN, CgA, and TTF1 in cervical small cell NECs, but not in large cell NECs. In contrast to cervical NECs, INSM1 immunohistochemistry shows only focal and weak staining in endometrial NECs. Our result suggested INSM1 is a sensitive marker which can be used as first-line test in histologic suspicious cervical cases, especially small cell NECs. However, negative INSM1 stain does not exclude the possibility of NECs. In endometrial NECs, conventional panel with CD56, SYN, CgA has better diagnostic performance than INSM1 alone.
Assuntos
Biomarcadores Tumorais/metabolismo , Carcinoma Neuroendócrino/diagnóstico , Tumores Neuroendócrinos/diagnóstico , Algoritmos , Antígeno CD56/metabolismo , Carcinoma Neuroendócrino/patologia , Proteínas de Ligação a DNA/metabolismo , Feminino , Genitália Feminina/patologia , Subunidade alfa de Hormônios Glicoproteicos/metabolismo , Humanos , Tumores Neuroendócrinos/patologia , Proteínas Repressoras/metabolismo , Sinaptofisina/metabolismo , Fatores de Transcrição/metabolismoRESUMO
Reprogramming of cellular energy metabolism, such as lipid metabolism, is a hallmark of squamous cell carcinoma of the head and neck (SCCHN). However, whether protein expression related to fatty acid oxidation (FAO) affects survival in SCCHN remains unclear. We aimed to investigate FAO-related enzyme expression and determine its correlation with clinicopathological variables in SCCHN patients. Immunohistochemical analysis (IHC) of FAO-related protein expression, including carnitine palmitoyltransferase 1 (CPT1), the acyl-CoA dehydrogenase family, and fatty acid synthase (FAS), was performed using tissue microarrays from 102 resected SCCHN tumors. Expressions were categorized according to IHC scores, and the statistical association with clinicopathological factors was determined. Moderate-to-high expression of long-chain acyl-CoA dehydrogenase (LCAD) had a protective role against cancer-related death (adjusted hazard ratio (HR), 0.2; 95% confidence interval (CI), 0.05-0.87) after covariate adjustment. Age and clinical stage remained independent predictors of survival (adjusted HR, 1.75; 95% CI, 1.22-2.49 for age; adjusted HR, 14.33; 95% CI, 1.89-108.60 for stage III/IV disease). Overexpression of medium-chain acyl-CoA dehydrogenase and FAS correlated with advanced tumor stage (T3/T4); however, none of these factors were independent predictors of survival. Several FAO-related enzymes were upregulated and LCAD overexpression had a protective effect on overall survival in advanced SCCHN patients. FAO-related-enzyme expression might have a prognostic impact on survival outcomes in SCCHN.
Assuntos
Acil-CoA Desidrogenase de Cadeia Longa/metabolismo , Ácidos Graxos/metabolismo , Neoplasias de Cabeça e Pescoço/metabolismo , Carcinoma de Células Escamosas de Cabeça e Pescoço/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Carnitina O-Palmitoiltransferase/metabolismo , Ácido Graxo Sintases/metabolismo , Feminino , Neoplasias de Cabeça e Pescoço/enzimologia , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Modelos de Riscos Proporcionais , Carcinoma de Células Escamosas de Cabeça e Pescoço/enzimologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/mortalidade , Análise Serial de Tecidos , Regulação para CimaRESUMO
BACKGROUND: In personalized medicine, companion diagnostic tests provide additional information to help select a treatment option likely to be optimal for a patient. Although such tests include several techniques for detecting low levels of mutant genes in wild-type backgrounds with fairly high sensitivity, most tests are not specific, and may exhibit high false positive rates. In this study, we describe a new primer structure, named 'stuntmer', to selectively suppress amplification of wild-type templates, and promote amplification of mutant templates. RESULTS: A single stuntmer for a defined region of DNA can detect several kinds of mutations, including point mutations, deletions, and insertions. Stuntmer PCRs are also highly sensitive, being able to amplify mutant sequences that may make up as little as 0.1% of the DNA sample. CONCLUSION: In conclusion, our technique, stuntmer PCR, can provide a simple, low-cost, highly sensitive, highly accurate, and highly specific platform for developing companion diagnostic tests.
Assuntos
DNA/genética , Mutação/genética , Humanos , Mutação Puntual/genética , Deleção de Sequência/genéticaRESUMO
Following publication of the original article [1], the author informed us that the legend for Fig. 2 was incorrect.
RESUMO
AIMS: Heat shock proteins (HSPs) are a group of molecules induced by a variety of environmental and pathophysiological stresses, including cancer. HSPs are implicated in the regulation of apoptosis and immunity in neoplasm. Transcription factor heat shock factor 1 (HSF1) acts as the master regulator to control HSP expression, and is therefore involved in tumorigenesis. The purpose of this study was to evaluate the expression and clinicopathological relevance of HSPs and HSF1 in clear cell renal cell carcinoma (ccRCC). METHODS AND RESULTS: The expression of HSP27, HSP60, HSP70, HSP90 and HSF1 was assessed in 428 cases of ccRCC using immunohistochemistry. High expression of HSP60 and HSP70 was correlated positively with grade and stage. High expression of HSF1 was correlated positively with stage. Univariate and multivariate analyses demonstrated that 216 patients (52%) with tumour expressing three or four markers in a panel of HSP60, HSP70, HSP90 and HSF1 had a significantly heightened risk for cancer-specific mortality than tumours expressing fewer than three markers (P < 0.0001; concordance index, 0.81). CONCLUSIONS: Immunohistochemical examination of HSPs and HSF1 provides useful prognostic information that may contribute to the design of therapeutic strategies for patients with ccRCC.
Assuntos
Biomarcadores Tumorais/análise , Carcinoma de Células Renais/patologia , Fatores de Transcrição de Choque Térmico/biossíntese , Proteínas de Choque Térmico/biossíntese , Neoplasias Renais/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Renais/metabolismo , Carcinoma de Células Renais/mortalidade , Feminino , Fatores de Transcrição de Choque Térmico/análise , Proteínas de Choque Térmico/análise , Humanos , Estimativa de Kaplan-Meier , Neoplasias Renais/metabolismo , Neoplasias Renais/mortalidade , Masculino , Pessoa de Meia-Idade , Prognóstico , Adulto JovemRESUMO
BACKGROUND: Atypical lipomatous tumor (ALT) is a low-grade, slow-growing, locally aggressive malignant mesenchymal neoplasm. ALT of the extremities and trunk wall is associated with a relatively favorable outcome. However, these tumors can still recur locally and secondary dedifferentiation after recurrence has been reported. There is currently no consensus about the optimal surgical treatment of ALT. Therefore, we aimed to clarify the clinical behavior, appropriate treatment, and outcomes of ALT of the extremities and trunk wall. METHODS: We retrospectively reviewed the files of 45 patients treated between 2000 and 2014 with the diagnosis of atypical lipomatous tumors of the extremities and trunk wall at our institution. The median follow-up period was 84.5 months (range, 24-183 months). The patient demographics, clinical presentation, surgical methods, margin status, and administration of radiation therapy were recorded. Patients were evaluated for their local recurrence, dedifferentiation, and postoperative complications. RESULTS: Wide resection was performed on 11 patients, and marginal resection was performed on 34 patients. Seven patients underwent adjuvant radiotherapy. The overall recurrence rate was 17.8% (8/45), and dedifferentiation rates was 0% (0/8). The mean time to local recurrence was 5.25 years (range, 2.6-10.6 years). No ALT-related deaths occurred during the follow-up period. There were no differences in recurrence-free survival for the different surgical methods (P = 0.337) and radiotherapy (P = 0.228), whereas the R0 resection had better recurrence-free survival (P = 0.031). The postoperative complication rates were higher in wide resection group than in marginal resection group. (45.5% vs 14.7%, P = 0.048). CONCLUSIONS: Atypical lipomatous tumors of the extremities and trunk wall are associated with a favorable overall survival and do not metastasis. Although they have a tendency to recur, the risk of secondary dedifferentiation is small. Wide resection had similar recurrence rates to marginal resection, but it might lead to more complications. Therefore, marginal resection is considered appropriate for the treatment of ALTs.
Assuntos
Extremidades/cirurgia , Lipossarcoma/cirurgia , Neoplasias de Tecidos Moles/cirurgia , Parede Torácica/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Lipossarcoma/diagnóstico , Lipossarcoma/mortalidade , Lipossarcoma/radioterapia , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Complicações Pós-Operatórias , Radioterapia Adjuvante , Estudos Retrospectivos , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/mortalidade , Neoplasias de Tecidos Moles/radioterapia , Análise de Sobrevida , Resultado do TratamentoRESUMO
Pre-mRNA alternative splicing is an important mechanism for the generation of synaptic protein diversity, but few factors governing this process have been identified. From a screen for Drosophila mutants with aberrant synaptic development, we identified beag, a mutant with fewer synaptic boutons and decreased neurotransmitter release. Beag encodes a spliceosomal protein similar to splicing factors in humans and Caenorhabditis elegans. We find that both beag mutants and mutants of an interacting gene dsmu1 have changes in the synaptic levels of specific splice isoforms of Fasciclin II (FasII), the Drosophila ortholog of neural cell adhesion molecule. We show that restoration of one splice isoform of FasII can rescue synaptic morphology in beag mutants while expression of other isoforms cannot. We further demonstrate that this FasII isoform has unique functions in synaptic development independent of transsynaptic adhesion. beag and dsmu1 mutants demonstrate an essential role for these previously uncharacterized splicing factors in the regulation of synapse development and function.
Assuntos
Processamento Alternativo/fisiologia , Moléculas de Adesão Celular Neuronais/metabolismo , Proteínas de Drosophila/fisiologia , Terminações Pré-Sinápticas/fisiologia , Processamento Alternativo/genética , Animais , Animais Geneticamente Modificados , Drosophila , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo , Mutação , Junção Neuromuscular/genética , Junção Neuromuscular/metabolismo , Junção Neuromuscular/fisiologia , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Spliceossomos/metabolismoRESUMO
Heterotopic pancreas (HP) is defined as pancreatic tissue lacking vascular or anatomic connection with the normal pancreas. Surgical resection is often indicated for symptomatic gastric HP. However, intraoperative identification of gastric HP is often difficult during laparoscopic surgery. Herein, we describe a patient with gastric HP, which was marked with SPOT® dye (GI Supply, Camp Hill, PA, USA). The dye was seen clearly laparoscopically facilitating total excision of the lesion. The final pathology report confirmed the presence of heterotopic pancreatic tissue including pancreatic acini, small pancreatic ducts tissue with islets of Langerhans in the deep gastric submucosal area. There were no postoperative complications, and the patient was symptom-free. To the best of our knowledge, this was the first case report in the literature in which endoscopic tattooing of gastric HP before laparoscopic resection was performed. This method of localization was simple and reliable in children.
RESUMO
Primary intracranial ependymoma is a challenging tumor to treat despite the availability of multidisciplinary therapeutic modalities, including surgical resection, radiotherapy, and adjuvant chemotherapy. After the completion of initial treatment, when resistant tumor cells recur, salvage therapy needs to be carried out with a more precise strategy. Circulating tumor cells (CTCs) have specifically been detected and validated for patients with primary or recurrent diffused glioma. The CTC drug screening platform can be used to perform a mini-invasive liquid biopsy for potential drug selection. The validation of potential drugs in a patient-derived xenograft (PDX) mouse model based on the same patient can serve as a preclinical testing platform. Here, we present the application of a drug testing model in a six-year-old girl with primary ependymoma on the posterior fossa, type A (EPN-PFA). She suffered from tumor recurrence with intracranial and spinal seeding at 2 years after her first operation and extraneural metastases in the pleura, lung, mediastinum, and distant femoral bone at 4 years after initial treatment. The CTC screening platform results showed that everolimus and entrectinib could be used to decrease CTC viability. The therapeutic efficacy of these two therapeutic agents has also been validated in a PDX mouse model from the same patient, and the results showed that these two therapeutic agents significantly decreased tumor growth. After precise drug screening and the combination of focal radiation on the femoral bone with everolimus chemotherapy, the whole-body bone scan showed significant shrinkage of the metastatic tumor on the right femoral bone. This novel approach can combine liquid biopsy, CTC drug testing platforms, and PDX model validation to achieve precision medicine in rare and challenging tumors with extraneural metastases.
RESUMO
BACKGROUND: Incidental radiotherapy (RT) to the adrenal gland may have systemic effects. This study aimed to investigate the effects of adrenal RT on fatigue. METHODS: BALB/c mice were surgically explored to identify the left adrenal gland and delivered intra-operative RT. The swimming endurance test was used for endurance assessment to represent fatigue. Plasma levels of stress hormones and histopathological features were examined. Three patients with inevitable RT to the adrenal gland were enrolled for the preliminary study. Serum levels of cortisol, aldosterone, and adrenocorticotropic hormone (ACTH) were measured before and after RT. Fatigue score by using the fatigue severity scale and RT dosimetric parameters were collected. RESULTS: In the experimental mouse model, adrenal RT decreased baseline cortisol from 274.6 ± 37.8 to 193.6 ± 29.4 ng/mL (p = 0.007) and swimming endurance time from 3.7 ± 0.3 to 1.7 ± 0.6 min (p = 0.02). In histopathological assessment, the irradiated adrenal glands showed RT injury features in the adrenal cortex. In the enrolled patients, baseline cortisol significantly declined after RT. There were no significant differences in the levels of morning cortisol, aldosterone, and ACTH before and after RT. CONCLUSIONS: The RT dose distributed to the adrenal gland may correlate with unwanted adverse effects, including fatigue and adrenal hormone alterations.
RESUMO
The clinicopathologic relevance of various gene rearrangements underlying dermatofibrosarcoma protuberans (DFSP) remains insufficiently characterized. In 188 DFSPs, we determined PDGFB, COL1A1, PDGFD, COL6A3, and EMILIN2 rearrangements by fluorescence in situ hybridization (FISH). The clinicopathologic significance of rearrangement types and factors related to recurrence and metastasis were statistically analyzed. In all, classic PDGFB rearrangement, cryptic COL1A1-PDGFB fusion, and PDGFD rearrangement were identified in 172 (91.4%), 8 (4.3%), and 8 (4.3%: 4 COL6A3-PDFGD, 4 EMILIN2-PDGFD) cases, respectively. In an index DFSP harboring the cryptic fusion, the COL1A1-PDGFB transcript was confirmed by both RNA sequencing and reverse transcription-polymerase chain reaction. In comparison with cases harboring classic PDGFB rearrangement, cryptic PDGFB-rearranged DFSPs usually exhibited higher 5'-COL1A1 copy numbers. In a combined reappraisal of published and current cases, COL6A3-PDGFD-positive DFSPs (n=16) predominated in females (n=14, 88%) and torso (n=14, 88%), especially the breast (n=7, 44%); EMILIN2-PDGFD-positive DFSPs (n=6) preferentially demonstrated near exclusively subcutaneous growth (n=5, 83%) and fibrosarcomatous transformation (n=5, 83%). In our cohort, local recurrence was related to fibrosarcomatous variant (P=0.029, odds ratio=3.478) and head and neck location (P=0.046, odds ratio=3.508). Distant metastasis only occurred in the fibrosarcomatous variant (9/73, 12.3%) but not in other cases. In conclusion, 8.6% of DFSPs are negative for PDGFB break-apart FISH, which, especially those with challenging subcutaneous and circumscribed manifestation, require complementary diagnosis by FISH assays targeting COL1A1 and PDGFD. The types of fusion gene rearrangements, head and neck location, and fibrosarcomatous transformation may account for clinicopathologic and prognostic variations in DFSPs and warrant future independent validation.
Assuntos
Dermatofibrossarcoma , Fibrossarcoma , Neoplasias Cutâneas , Colágeno , Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/genética , Dermatofibrossarcoma/patologia , Feminino , Fibrossarcoma/genética , Rearranjo Gênico , Humanos , Hibridização in Situ Fluorescente , Proteínas de Fusão Oncogênica/genética , Proteínas Proto-Oncogênicas c-sis/genética , Neoplasias Cutâneas/patologiaRESUMO
RATIONALE: Multiseptate gallbladder (MSG) is a rare congenital gallbladder anomaly. Between 1963 and June 2021, only 56 cases were reported. There is currently no treatment guideline for pediatric or adult cases of MSG. PATIENT CONCERNS: A 14-year-old woman visited our out-patient clinic in September 2020 for epigastric pain that last for 6âmonths. Honeycomb appearance of the gallbladder was noted under ultrasonography. DIAGNOSIS: The patient was diagnosed with MSG. The diagnosis was confirmed through computed tomography and magnetic resonance cholangiopancreatography. INTERVENTIONS: Cholecystectomy was performed. OUTCOMES: Epigastric pain showed limited improvement after the surgery. Since she was diagnosed with gastritis at the same time, a proton-pump inhibitor was prescribed. Epigastric pain was eventually resolved. LESSONS: MSG cases can undergo cholecystectomy and show good recovery without complications. However, concomitant treatment may be required to resolve in the presence of other symptoms such as epigastric pain.
Assuntos
Dor Abdominal/etiologia , Vesícula Biliar/anormalidades , Adolescente , Adulto , Criança , Colecistectomia , Feminino , Vesícula Biliar/diagnóstico por imagem , Vesícula Biliar/cirurgia , Doenças da Vesícula Biliar , Humanos , UltrassonografiaRESUMO
Choriocarcinoma is a highly aggressive malignant germ cell tumor containing syncytiotrophoblasts and secreting ß-hCG with a poor prognosis. Most of the choriocarcinomas are associated with gestational events and occur in the female genital tract. Primary choriocarcinoma of the lung is extremely rare and fewer than 30 cases have been reported to date. Here we report a surgically treated case of primary pulmonary choriocarcinoma in a 37-year-old woman. Surgery was followed by chemotherapy with bleomycin, etoposide, and cisplatinum. The patient was alive at 3-year follow-up and was in good condition.
RESUMO
Atypical teratoid rhabdoid tumor (AT/RT) is a highly aggressive central nervous system embryonic tumor predominantly occurring in infants and young children. The AT/RT can occur in the cerebellopontine angle and cause facial nerve palsy as a presenting sign. We present a case of a 2-year-old girl with a cerebellopontine angle tumor who initially presented with acute facial palsy. Later, asubsequent diagnosis of AT/RT was made.
RESUMO
Castleman's disease is a rare benign lymphoproliferative disorder which most occurred in mediastinum. There are three subtypes of Castleman's disease. The hyaline-vascular variant is often localized, asymptomatic, and with benign outcome. Whereas the plasma cell and multicentric variants are systemic diseases frequently associated with HIV infection or other hematopoietic malignancies. Mesenteric Castleman's disease is extremely rare. Less than 30 cases have been reported. Here, we report a case of mesenteric Castleman's disease with initial gastrointestinal symptoms.
RESUMO
Lung non-small cell carcinoma is one of the most common cancers in the world. Pancreas metastasis from lung cancer is very rare. Endoscopic ultrasound-guided fine needle aspiration biopsy (EUS-FNAB) is a useful method to improve the diagnosis of pancreatic tumors and to guide the treatment plan. However, the limited amount of specimen obtained from EUS-FNAB may be a pitfall. Here we present a case of pancreatic metastasis from lung non-small cell carcinoma initially mimicking primary pancreatic adenocarcinoma.
RESUMO
Crystal-storing histiocytosis is a rare non-neoplastic histiocytic proliferation disorder which can occur in many anatomic sites. Fewer than 20 cases of pulmonary crystal-storing histiocytosis have been reported, most of which were associated with clonal lymphoproliferative disorder. Herein we report the first case of pulmonary crystal-storing histiocytosis with underlying Sjögren syndrome.