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Pulmonary blastomas (PB) are an extremely rare type of lung cancer. Currently, no standard treatment exists for PB. Immunotherapy with checkpoint inhibitors and anti-angiogenesis treatments has been an effective method for lung cancer; however, studies on PB treatment are lacking. Herein, we present a case report of successful conversion therapy with immunotherapy and targeted therapy for PB. After receiving treatment with a PD-1 inhibitor (penpulimab) and a multi-target tyrosine kinase inhibitor (anlotinib) treatment, the patient showed an impressive response and underwent a successful operation. We also summarized and reviewed literature reports on PubMed from January 1, 2000, to December 31, 2022, using the keyword "pulmonary blastoma", discussing the efficacy and specifics of chemotherapy and radiotherapy. Immunotherapy, in combination with targeted therapy, should be considered a potential therapeutic strategy for PB.
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Neoplasias Pulmonares , Blastoma Pulmonar , Humanos , Blastoma Pulmonar/terapia , Neoplasias Pulmonares/terapia , Imunoterapia , Inibidores de Checkpoint Imunológico , Inibidores de Proteínas Quinases/uso terapêuticoRESUMO
AIMS: Primary double KIT/PDGFRA mutations are very rare in gastrointestinal stromal tumours (GISTs) but have not been comprehensively studied to date. In the present study, we investigated the clinicopathologic and genetic features of eight cases of primary double-mutant GISTs, and we reviewed the literature. METHODS AND RESULTS: The tumours occurred in six males and two females (age range 57-83 years) and involved the small intestine (n = 4), stomach (n = 2), rectum (n = 1) and retroperitoneum (n = 1). Clinical manifestations were variable, ranging from indolent (no symptoms) to aggressive disease (tumour rupture and haemorrhage). All patients underwent surgical excision, and six of them were treated with imatinib. No one experienced recurrence or other complications during the follow-up time (10 to 61 months). Histologically, all the tumours exhibited mixed cell types, accompanied by variable interstitial changes. KIT mutations were detected in all cases, and the majority of them were present in different exons (n = 5). No PDGFRA exon 12, 14 or 18 mutations were found. All the mutations were validated by next-generation sequencing, and two additional variants with comparatively low allelic fractions were identified in one case. Two of the cases had available allele distribution data, one with an in cis compound mutation and the other with an in trans compound mutation. CONCLUSION: Primary double-mutant GISTs have distinctive clinicopathologic and mutational features. Studies of more cases are necessary for a better understanding of these tumours.
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Tumores do Estroma Gastrointestinal , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Tumores do Estroma Gastrointestinal/patologia , Mutação , Mesilato de Imatinib/uso terapêutico , Intestino Delgado/patologia , Éxons , Receptores Proteína Tirosina Quinases/genética , Proteínas Proto-Oncogênicas c-kit/genética , Proteínas Proto-Oncogênicas c-kit/metabolismo , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genética , Análise Mutacional de DNARESUMO
NTRK-rearranged spindle cell neoplasms (NTRK-RSCNs) represent an emerging group of rare tumours defined using molecular means. To the best of our knowledge, there have been no large series of reports about this tumour in the Chinese population in English full-text articles. Herein, we present 13 NTRK-RSCNs with peculiar characteristics. Ten of the 13 (77%) patients were children without sex differences. The tumour locations included six trunks, four extremities, two recta, and one small bowel. The histological morphology included four lipofibromatosis-like neural tumour (LPF-NT)-like, eight malignant peripheral nerve sheath tumours (MPNST)/fibrosarcoma-like, and one extremely rare myxofibrosarcoma-like pattern. Immunohistochemically, all cases were CD34, pan-TRK and TRK-A positive, SOX-10 negative, and H3K27me3 intact. S-100 protein expression was identified in 11 of 13 (85%) cases. Genetically, NTRK1 rearrangements were considered positive (7/13, 54%) or suspicious for positivity (6/13, 46%) by fluorescence in situ hybridisation. Next-generation sequencing and Sanger sequencing confirmed NTRK1 fusions with a variety of partner genes, including five LMNA, three TPM3, one SQSTM1, three novel CPSF6, IGR (downstream PMVK), and GAS2L1 genes. Interestingly, the last tumour concurrently harboured a second EWSR1-PBX1 fusion, which has never been reported. Four patients developed local recurrence and two of them suffered metastasis. In our study, NTRK-RSCNs had peculiar fusions that displayed unusual or complicated clinicopathological features. Histological clues and IHC helped streamline a small subset of potential candidates. Although FISH is a powerful technology for identifying NTRK rearrangements, RNA-/DNA-based NGS is recommended for highly suspected cases in which FISH signal patterns are not discernible as classic positive patterns, particularly if targeted therapy is considered.
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Fibrossarcoma , Neoplasias , Masculino , Feminino , Humanos , Receptor trkA/genética , Neoplasias/genética , Fibrossarcoma/patologia , Receptor trkC/genética , Imuno-Histoquímica , China , Proteínas de Fusão Oncogênica/genética , Rearranjo Gênico , Biomarcadores Tumorais/genéticaRESUMO
Objectives: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders characterized by neuromuscular junction defects. Mutations in GFPT1 have been shown to underlie CMS. An increasing number of patients with CMS due to mutations in GFPT1 have been reported. However, a comprehensive review of clinical and genetic analyses of GFPT-related CMS worldwide is lacking, especially, given that the common or hotspot mutations in GFPT1 have not been reported. Here, we described the clinical and genetic findings of three patients with GFPT1 mutations from southwestern China and reviewed the clinical and genetic features of patients with GFPT1-related CMS worldwide. Methods: Clinical, laboratory, electrophysiological, myopathological, and genetic analyses of three patients with GFPT1-related CMS from southwestern China were conducted, and a review of previously published or reported cases about congenital myasthenic syndrome with GFPT1 mutations in the PubMed database was made. Results: The clinical, laboratory, electrophysiological, and myopathological features by muscle biopsy of three patients with GFPT1-related CMS were consistent with those of previously reported patients with GFPT1 mutations. Additionally, an abnormal decrement in high-frequency RNS was found. Two different homozygous missense mutations (c.331C>T, p.R111C; c.44C>T, p.T15M) were detected by whole-exome sequencing (WES) or targeted neuromuscular disorder gene panels. Conclusion: A distinct decremental response to high-frequency RNS was found in three patients with GFPT1-related CMS from southwestern China, which has never been reported thus far. In addition, the location and degree of tubular aggregates (TAs) seemed to be associated with the severity of clinical symptoms and serum creatine kinase levels, further expanding the phenotypic spectrum of GFPT1-related CMS. Lastly, some potential hotspot mutations in GFPT1 have been found in GFPT1-CMS worldwide.
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Introduction: Primary intrathoracic liposarcoma is extremely rare, and most published series lack genetic analyses. The aim of our study is to better understand the clinicopathologic and genetic features of these rare lesions. Materials and methods: Forty-three primary intrathoracic liposarcomas were identified and most cases were analyzed by systematic genetic studies, including fluorescence in situ hybridization (FISH), whole-exome sequencing (WES), and Sanger sequencing. Results: This series included 27 males and 16 females (ratios, 1.68:1) aged 24-73 years (median, 53 years). Tumors mainly occurred in the mediastinum (n=23, 53.5%), followed by pleural cavity (n=16, 37.2%) and lung (n=4, 9.3%). The study included 21 well-differentiated liposarcomas (WDLs), 19 dedifferentiated liposarcomas (DDLs), 2 myxoid pleomorphic liposarcomas (MPLs) and 1 pleomorphic liposarcoma (PL), without identification of myxoid liposarcoma. FISH analysis identified MDM2 amplification in 17 of 18 WDLs (94.4%) and all DDLs (16/16, 100.0%). The MDM2-nonamplified WDL was CDK4-nonamplified but FRS2-amplified. WES and Sanger sequencing found somatic TP53 mutation in the 2 MPLs. Follow-up information was available for 33 of 38 cases (86.8%). Thirteen patients (39.4%) showed no evidence of disease, 10 patients (30.3%) were alive with disease, and 8 patients (24.2%) died of disease. Fourteen cases developed recurrence and 1 with metastasis. Conclusions: WDL/DDL was the overwhelming subtype in this location, followed by MPL and PL. Analysis of the FRS2 gene, in combination with MDM2 and other genes of 12q13-15, may more precisely characterize WDL/DDLs. MPL is the most fatal subtype of this site. Further studies are needed to explore the role of TP53 in the pathogenesis of MPL.
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Inflammatory myofibroblastic tumor (IMT) is a distinctive neoplasm that frequently arises in the lung and accounts for ~1% of lung tumors. Distant metastatic IMT is extremely rare and has been poorly investigated. This analysis was specifically performed to explore the clinicopathological and genetic features of early distant metastatic IMT. Two typical patients with distant metastatic IMTs were selected, which accounted for 1.13% of all diagnosed IMTs in the last 5 years. One patient was a 55 year-old male, and the other patient was a 56 year-old female. Both primary tumors arose from the lung, and the initial clinical symptoms of the two patients involved coughing. Both of the imaging examinations showed low-density nodular shadows in the lungs with enhancement around the mass. Microscopically, dense arranged tumor cells, prominent cellular atypia, and high mitotic activity with atypical form were more prominent in the metastatic lesions than in the primary lesions. All of the primary and metastatic tumors in both cases showed positive anaplastic lymphoma kinase (ALK) immunostaining and ALK rearrangement via fluorescence in situ hybridization. The EML4 (exon 6)-ALK (exon 20) fusion variant (v3a/b) was identified by using next-generation sequencing (NGS) and was verified by using reverse transcription polymerase chain reaction (RT-PCR). Furthermore, intronic variants of NOTCH1 and synonymous variants of ARAF were also detected via NGS in one IMT for the first time and were verified in all of the primary and metastatic lesions via PCR. Distant metastasis occurred during a short period of time (1 and 2 months) after the first surgery. One patient presented with multiple metastases to the subcutaneous tissue and bone that responded to ALK inhibitor alectinib therapy, and the tumor was observed to regress 10 months after the initial ALK inhibitor therapy. In contrast, the other patient presented with subcutaneous neck metastasis without ALK inhibitor treatment and succumbed to the disease within 3 months after the surgery. This study demonstrated the possible role of EML4-ALKv3a/b in the malignant progression of IMT and proposed certain therapeutic effects of ALK inhibitors on multiple metastatic IMTs.
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Oculopharyngodistal myopathy (OPDM) is a rare adult-onset hereditary muscular disease characterized by slowly progressive ptosis, external ophthalmoplegia and weakness of the facial, pharyngeal and distal limb muscles. Recently, CGG repeat expansion mutations in three genes, LRP12, GIPC1 and NOTCH2NLC, have been identified as causative factors for OPDM. Here, we report clinicopathologically typical familial OPDM patients from southwestern China. CGG repeat expansions in GIPC1 were detected in two OPDM-affected individuals. Our study was the first GIPC1-OPDM report from southwestern China, further confirming expanded GGC repeats in GIPC1 as the cause of OPDM.
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Proteínas Adaptadoras de Transdução de Sinal , Distrofias Musculares , Expansão das Repetições de Trinucleotídeos , Proteínas Adaptadoras de Transdução de Sinal/genética , Adulto , China , Humanos , Músculo Esquelético , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , MutaçãoRESUMO
Deletion of the neurofibromatosis 1 (NF1) gene is common, but NF1 rearrangement or fusion has rarely been reported in peripheral nerve sheath tumors. Here, we present a case of malignant peripheral nerve sheath tumor (MPNST) in a 36-year-old Chinese female. Histologically, the lesion was composed of spindle cells with moderate atypia, immature bone, and atypical cartilage elements. Fluorescence in situ hybridization (FISH) for USP6 revealed green-orange split signals, strongly suggesting the presence of USP6 rearrangement. Subsequent next-generation sequencing-based technology analyses revealed t(17,17) (p13.2, q11.2) intrachromosomal translocation resulting in a novel NF1-SCIMP fusion gene along with NF1 deletion. However, USP6 fusion was not identified. To the best of our knowledge, this is the first case with a confirmed NF1 gene fusion partner in a peripheral nerve sheath tumor. Notably, rearrangement of the SCIMP may cause a pitfall in the interpretation of USP6 FISH results.
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Citrus sinensis , Neoplasias de Bainha Neural , Neurofibromatose 1 , Neurofibrossarcoma , Aberrações Cromossômicas , Citrus sinensis/genética , Feminino , Fusão Gênica , Humanos , Hibridização in Situ Fluorescente , Neoplasias de Bainha Neural/diagnóstico , Neoplasias de Bainha Neural/genética , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Ubiquitina Tiolesterase/genéticaRESUMO
BACKGROUND: Mutation screening for gastrointestinal stromal tumor (GIST) is crucial and the c kit gene (KIT) exon 11 mutation is the most common type. This study aimed to explore the associations between GIST with KIT exon 11 mutation and contrast-enhanced computed tomography (CT) images. METHODS: Pathologically proven GISTs with definitive genotype testing results in our hospital were retrospectively included. Abdominal contrast-enhanced CT images were analyzed. Conventional CT image features and radiomic features were recorded and extracted to build the following models: model [CT], model [radiomic + clinic] and model [CT + radiomic + clinic]. The diagnostic performances of GISTs with KIT exon 11 mutation and KIT exon 11 deletion involving codons 557-558 were evaluated. RESULTS: In total, 327 GISTs (255 with KIT exon 11 mutation, and 73 with KIT exon 11 mutation deletion involving codons 557-558) were included. Significant CT features were found for GISTs with KIT exon 11 mutation. The area under curves (AUCs) of the models for KIT exon 11 mutation were 0.7158, 0.7530, and 0.8375 in the training cohort, and 0.6777, 0.7349, and 0.8105 in validation cohort, respectively. The AUCs of the models for KIT exon 11 mutation deletion involving codons 557-558 were 0.7155, 8621, and 0.8691 in the training cohort, and 0.7099, 0.8355, and 0.8488 in the validation cohort, respectively. The model [CT + radiomic + clinic] demonstrated the highest AUCs for prediction of KIT exon 11 mutation and those with deletion involving codons 557-558 (P<0.05), respectively. The model [radiomic + clinic] showed higher diagnostic performance than model [CT] significantly. CONCLUSIONS: Our results demonstrated the associations between GIST with KIT exon 11 mutation and contrast-enhanced CT images. We found combing conventional image analysis and texture analysis is a useful tool to distinguish GIST with KIT exon 11 mutation. CT radiogenomics exhibited good application potential in predict the KIT exon 11 mutation of GIST.
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BACKGROUND: To determine whether preoperative computed tomography (CT) features can be used for the prediction of gastrointestinal stromal tumors (GISTs) with a high Ki-67 proliferation index (Ki-67 PI). METHODS: A total of 198 patients with surgically and pathologically proven GISTs were retrospectively included. All GISTs were divided into a low Ki-67 PI group (<10%) and a high Ki-67 PI group (≥10%). All imaging features were blindly interpreted by two radiologists. Receiver operating characteristic (ROC) curve analyses were conducted to evaluate the predictive performance of the imaging features. RESULTS: Imaging features were found to be significantly different between the low and the high Ki-67 PI groups (P<0.05). Wall thickness of necrosis showed the highest predictive ability, with an area under the curve (AUC) of 0.838 [95% confidence interval (CI): 0.627-0.957], followed by necrosis, necrosis degree, hyperenhancement of the overlying mucosa (HYOM), and long diameter (LD) (AUC >0.7, P<0.05). HYOM was the strongest predictive feature for the high Ki-67 PI GISTs group, with an odds ratio (OR) value of 30.037 (95% CI: 5.707-158.106). CONCLUSIONS: Imaging features, including the presence of necrosis, high necrosis degree, thick wall of necrosis, and HYOM were significant predictive indicators for the high Ki-67 PI GISTs group.
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BACKGROUND: The fibroblast growth factor receptor substrate 2 (FRS2) gene is located close to MDM2 and CDK4 within the 12q13-15 chromosomal region. FRS2 gene was recently found to be consistently amplified in atypical lipomatous tumor (ALT)/well-differentiated liposarcoma (WDL) and dedifferentiated liposarcoma (DDL), suggesting the detection of FRS2 amplification could be a diagnostic tool for ALT/WDL/DDLs. However, the expression of FRS2 protein and diagnostic value of FRS2 immunohistochemistry (IHC) has not been evaluated in a large cohort of ALT/WDL/DDLs. METHODS: A SNOMED search of hospital surgical pathology files from January 2007 to July 2020 identified 182 ALT/WDL/DDLs with available materials. FRS2 fluorescence in situ hybridization (FISH) and IHC were performed on 182 ALT/WDL/DDLs and 64 control samples. The expression of FRS2 was also compared with that of classic immunomarkers (MDM2 and CDK4) of this tumor entity. RESULTS: This study included 91 ALT/WDLs and 91 DDLs. The FISH results showed 172 of 182 (94.5%) cases were FRS2-amplified, and 10 cases were FRS2-nonamplified. Immunostaining results showed 171 (94.0%) ALT/WDL/DDLs were positive for FRS2 and 11 cases (6.0%) were FRS2-immunonegative. In 172 FRS2-amplified cases, 166 (96.5%) were FRS2-immunopositive, and 6 (3.5%) were negative. Among 10 FRS2-nonamplified ALT/WDL/DDL cases, 5 cases were FRS2-immunonegative, and 5 tumors displayed 1+ staining for this marker. In 64 control cases, none of them exhibited FRS2 amplification. Forty-seven (73.5%) control cases were negative for FRS2 immunostaining, while 17 cases (26.5%) were FRS2-immunopositive. Fifteen of these false positive samples (15/17, 88.2%) showed 1+ positivity and only 2 cases (2/17, 11.8%) displayed 2+ positivity. In ALT/WDL/DDLs, the sensitivity of FRS2 immunostaining was slightly lower than MDM2 (FRS2 vs. MDM2: 94.0% vs 100.0%) and CDK4 (FRS2 vs. CDK4: 94.0% vs 97.0%). However, the specificity of FRS2 (73.5%) was slightly higher than that of MDM2 (67.8%) and CDK4 (64.4%). CONCLUSION: This study indicated that FRS2 IHC had relatively good consistency with FRS2 FISH, suggesting that FRS2 immunostaining could be utilized as an additional screening tool for the diagnosis of ALT/WDL/DDL. It must be emphasized that MDM2/CDK4/FRS2 especially MDM2 FISH remains the gold standard and the most recommended method to diagnose this entity.
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Proteínas Adaptadoras de Transdução de Sinal/biossíntese , Lipossarcoma/patologia , Proteínas de Membrana/biossíntese , Neoplasias de Tecidos Moles/patologia , Proteínas Adaptadoras de Transdução de Sinal/análise , Proteínas Adaptadoras de Transdução de Sinal/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Lipossarcoma/genética , Lipossarcoma/metabolismo , Masculino , Proteínas de Membrana/análise , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/metabolismo , Adulto JovemRESUMO
We presented a case of hepatitis B virus (HBV)-related type III cryoglobulinemia vasculitis (CryoVas) characterized by extremity gangrene in a patient with diabetes. The 60-year-old female had a 10-year history of poorly controlled type 2 diabetes mellitus. She complained of sudden onset pain and swelling of toes which quickly progressed to gangrene, with fingers becoming pain and dark violet. The patient was initially misdiagnosed as diabetic foot (DF). Although DF is one of the common chronic complications of diabetes, it rarely involves the hand. What is more, the ischemic manifestations of the extremity were not consistent with the results of the vascular examination and immune system changes. The patient had Raynaud's phenomenon, arthralgia, and extremity gangrene. Test results showed cryoglobulinemia multiple positive, polyclonal immunoglobulin with rheumatoid factor negative, lower complement 3, leukocytoclastic vasculitis, and HBV infection. HBV-related type III CryoVas was finally diagnosed, and a conservative therapy strategy was given. Six months after treatment with cyclophosphamide, corticosteroid, nucleoside/nucleotide analog therapy, local debridement, and dressing change, she recovered and kept no recurrence by following up for 30 months. To our knowledge, this is the first report of extremity gangrene caused by HBV-related CryoVas in a diabetic patient.
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The incidence of pediatric liposarcoma is rare and most published cases lack systematic genetic analyses. We present clinicopathologic and genetic features of 23 liposarcomas aged <22 years. The study cohort comprised 10 males and 13 females (M:F=1:1.3) aged 11-21 years (median 17 years). The tumors predominantly occurred at the extremities (16/23; 69.6%), followed by the head/neck (2/23; 8.7%), chest (2/23; 8.7%), waist (2/23, 8.7%), and retroperitoneum (1/23; 4.3%). The tumor subtypes were sixteen myxoid liposarcoma (ML), one well-differentiated liposarcoma (WDL), two dedifferentiated liposarcoma (DDL), one pleomorphic liposarcoma (PL), and three myxoid pleomorphic liposarcoma (MPL) cases. Fluorescence in situ hybridization analysis identified MDM2/CDK4 amplification in all WDL/DDL cases (3/3; 100%) and DDIT3 rearrangement in all ML cases (13/13; 100%). Whole-exome sequencing indicated that one PL case and one MPL case exhibited RB1 loss. The two tested MPL cases had TP53 mutation and one of them harbored a TP53 germline mutation. Follow-up information was available for 20 patients (20/23; 87.0%) with a median follow-up duration of 42.5 months (range, 13-120 months). Three patients exhibited tumor progression (3/20;15.0%). Seventeen patients (17/20; 85.0%) survived with no evidence of disease. One MPL case (1/20; 5.0%) died of the disease. In conclusion, despite some overlaps, the occurrence, distribution of subtype, and prognosis of liposarcoma are overall different in children and adults. Most MLs and ALT/WDL/DDLs showed similar genetic aberrations with adult counterparts. Molecular features of MPL overlapped with those of conventional PL. The genetic characteristics including Tp53 status of MPL need further investigation.
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Biomarcadores Tumorais/genética , Lipossarcoma/genética , Adolescente , Criança , China , Quinase 4 Dependente de Ciclina/genética , Análise Mutacional de DNA , Progressão da Doença , Feminino , Amplificação de Genes , Rearranjo Gênico , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Humanos , Hibridização in Situ Fluorescente , Lipossarcoma/mortalidade , Lipossarcoma/patologia , Lipossarcoma/cirurgia , Masculino , Fenótipo , Proteínas Proto-Oncogênicas c-mdm2/genética , Proteínas de Ligação a Retinoblastoma/genética , Fatores de Tempo , Fator de Transcrição CHOP/genética , Resultado do Tratamento , Proteína Supressora de Tumor p53/genética , Ubiquitina-Proteína Ligases/genética , Sequenciamento do Exoma , Adulto JovemRESUMO
Nodular fasciitis (NF) rarely occurs in infants aged < 2 years although cranial fasciitis develops predominantly in this age group. Histologically, NF may present high cellularity and brisk mitoses, but atypical forms are generally absent. Here, we report a NF in a 22-month-old Chinese boy. Microscopically, the lesion was manifested as cellular variant of NF. Notably, atypical mitotic figures including multipolar form were identified. Immunohistochemically, the neoplastic cells showed strong positivity for smooth muscle actin. Fluorescence in situ hybridization analysis revealed an unbalanced rearrangement of USP6, along with the USP6 increased copies. Subsequent next-generation sequencing-based technology revealed a novel PAFAH1B1-USP6 fusion gene as well as unusual fusion point on USP6 (exon 9). To the best of our knowledge, this is the only reported case with overt atypical mitosis. This case is also the first published example of genetically confirmed infant NF. Additionally, PAFAH1B1-USP6 fusion has never been described in NF.
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1-Alquil-2-acetilglicerofosfocolina Esterase/genética , Fasciite/genética , Fusão Gênica , Proteínas Associadas aos Microtúbulos/genética , Ubiquitina Tiolesterase/genética , Fasciite/patologia , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Mitose , FenótipoRESUMO
BACKGROUND: microRNAs, which expound the transcriptional regulation of gene expression, have been validated as prognostic markers in many tumors. The deregulated expression of microRNAs has been shown to aid classification of tumors and predict outcome in many tumors including breast PTs. The aim of our study is to investigate the clinical significance and prognostic value of microRNAs in PTs to identify a biomarker which has the potential for predicting prognosis and target therapy. METHODS: Quantitative real-time PCR (qRT-PCR) was used to detect the expression level of microRNA20b in 123 breast PTs patients. The correlations between the expression of microRNA20b and clinicopathological parameters were investigated. The prognostic significance of microRNA20b was investigated by the Kaplan-Meier survival and Cox proportional hazards regression model. RESULTS: The expression level of microRNA20b increased with the increase in the tumor grade (p < 0.05). High expression of microRNA20b correlated with stromal overgrowth, marked stromal cellularity, high atypia of stromal cells, infiltrative tumor margin, high mitotic activity, tumor grade, local recurrence and metastasis (p < 0.05). High expression of microRNA20b correlated with the shorter disease-free survival (DFS) (log-rank test, p < 0.001). Multivariate Cox regression analysis showed that microRNA20b was an independent prognostic indicator for breast PTs patients. CONCLUSION: The study demonstrated the promising potential of applying microRNA20b as a prognostic biomarker in PT patients.
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Neoplasias da Mama/genética , Neoplasias da Mama/patologia , MicroRNAs/genética , Tumor Filoide/genética , Tumor Filoide/patologia , Adulto , Biomarcadores Tumorais/genética , Neoplasias da Mama/mortalidade , Intervalo Livre de Doença , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Tumor Filoide/mortalidade , Prognóstico , Modelos de Riscos Proporcionais , Células Estromais/metabolismoRESUMO
The original version of this article, unfortunately, contained errors.
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Intravascular fasciitis (IVF) is considered a rare variant of nodular fasciitis, which often involves small- and medium-sized blood vessels. Approximately 43 cases of IVF have been reported in the English literature to date. Here, we report an IVF case arising from the common iliac vein of the pelvic cavity in a 19-year-old Chinese man. Histologically, the lesion was confined within the vascular lumen and consisted of regular myofibroblasts immersed in a fibromyxoid stroma. The tumor cells showed a USP6 rearrangement by fluorescence in situ hybridization but were negative for MYH9-USP6 fusion by reverse transcription polymerase chain reaction. Subsequent next-generation sequencing identified the CTNNB1-USP6 fusion. To the best of our knowledge, the vessel involved in this case is the largest vein among the reported cases. The present case might be the first example of a USP6-rearranged lesion in this entity, suggesting that IVF should be included in the USP6-induced family.
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Fasciite/genética , Ubiquitina Tiolesterase/genética , beta Catenina/genética , Povo Asiático/genética , Fasciite/patologia , Fibroma/patologia , Rearranjo Gênico , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização in Situ Fluorescente , Masculino , Miofibroblastos/patologia , Proteínas Proto-Oncogênicas/genética , Ubiquitina Tiolesterase/metabolismo , Adulto Jovem , beta Catenina/metabolismoRESUMO
Backgrounds: Accumulating evidences have demonstrated that CD55 can protect cells from complement-mediated attack, and is involved in tumor dedifferentiation, migration, invasiveness, and metastasis. However, the role of CD55 in gastrointestinal stromal tumors (GISTs) has not been investigated. Aims: Our study aimed to analyze the expression of CD55 in gastric GISTs and its correlations with clinicopathologic characteristics and prognosis. Materials and methods: A total of 118 gastric GIST patients were included in our study. CD55 expression in GIST tissue samples was evaluated using immunohistochemistry. Cumulative survival was conducted using the Kaplan-Meier method. Cox regression analyses were performed to identify factors associated with progression-free survival (PFS) for patients with gastric GISTs. Results: Of 118 gastric GISTs patients included in our study, 44 (37.3%) were positive for CD55 expression. Positive CD55 expression in gastric GISTs was closely associated with tumor size (13.52±7.35 vs 5.07±1.90 cm, respectively; P<0.001), Ki 67 labeling index (P=0.001), mitotic counts (P=0.005), NIH risk classification (P<0.001), PLR (P<0.001), and metastasis at initial diagnosis (P=0.002). Kaplan-Meier analyses revealed that tumor size (P<0.001), mitotic counts (P<0.001), Ki 67 labeling index (P<0.001), PLR (P<0.001), metastasis at initial diagnosis (P=0.031), and CD55 expression (P<0.001) were statistically significant risk factors affecting PFS of patients with gastric GISTs. Cox multivariate survival analysis showed that mitotic counts, Ki 67 labeling index, and CD55 expression were independent predictors of PFS for gastric GISTs. Conclusion: CD55 may be a potential prognostic marker in gastric GISTs patients.
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RATIONALE: Intestinal ganglioneuromatosis (IGNM) is a rare disease, defined by an abnormal proliferation of ganglion cells, nerve fibers and Schwann cells in the enteric nerve system. PATIENT CONCERNS: A 54-year-old woman presented with a one-year history of recurrent episodes of hypogastric pain, with vomiting, nausea, melena, and weight loss of 10âkg in recent 5 months. DIAGNOSES: The patient was diagnosed as a diffuse IGNM by pathological examination. INTERVENTIONS: A complete excision of the tumor was performed. OUTCOMES: On follow-up after 26 months, the patient was asymptomatic without complications. LESSONS: This report showed a rare case of diffuse IGNM not associated with NF1 or MEN2b. Preoperative radiological examination suggested an intestinal GIST, yet the final diagnosis of diffuse IGNM was made according to the pathological examination of the resected specimen. Although the prevalence of ganglioneuromatosis is low, this condition should be considered in the differential diagnosis of intestinal mass in adults.