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Myasthenia gravis (MG) is an immune-mediated disease frequently associated with thymic changes. Increased T helper 17 (Th17) cell activity and dysfunctional regulatory T (Treg) cells have been demonstrated in subgroups of MG. On the other hand, hypoxia-inducible factor 1 (HIF-1) has been shown to regulate the Th17/Treg balance by inducing Th17 differentiation while attenuating Treg development. To identify the underlying mechanisms of different thymic pathologies in MG development, we evaluated thymic samples from thymoma-associated myasthenia gravis (TAMG), MG with hyperplasia (TFH-MG) and thymoma without MG (TOMA) patients. Differential gene expression analysis revealed that TAMG and TFH-MG cells are associated with different functional pathways. A higher RORC/FOXP3 ratio provided evidence for Th17/Treg imbalance in TAMG potentially related to increased HIF1A. The hypoxic microenvironment in thymoma may be a driver of TAMG by increasing HIF1A. These findings may lead to new therapeutic approaches targeting HIF1A in the development of TAMG.
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Subunidade alfa do Fator 1 Induzível por Hipóxia , Miastenia Gravis , Células Th17 , Timoma , Feminino , Humanos , Masculino , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Miastenia Gravis/genética , Miastenia Gravis/imunologia , Miastenia Gravis/patologia , Linfócitos T Reguladores/metabolismo , Linfócitos T Reguladores/imunologia , Células Th17/metabolismo , Células Th17/imunologia , Timoma/complicações , Timoma/genética , Timoma/imunologia , Timo/patologia , Neoplasias do Timo/complicações , Neoplasias do Timo/genéticaRESUMO
BACKGROUND: Intraoperative neural monitoring (IONM) has been utilized for a variety of thyroid pathologies, including papillary thyroid carcinoma (PTC). Remnant thyroid tissue following total thyroidectomy (TT) in patients with PTC is associated with increased recurrence. The aim of this study is to investigate whether the use of IONM in PTC surgery has an impact on the completeness of thyroidectomy. METHODS: Retrospectively, patients with preoperative diagnosis of PTC, who underwent TT in a tertiary center were reviewed. They were grouped based on the IONM usage, and 1:1 propensity-score match was performed. Primary outcome was the completeness of thyroidectomy, determined by measuring postoperative stimulated thyroglobulin levels (sTg). RESULTS: Among 274 clinically node-negative PTC patients who underwent TT and ipsilateral prophylactic central lymph-node dissection, a total of 170 patients (85:85) were matched. Postoperative sTg levels were significantly lower in the IONM group (1 ng/dL vs. 0.4 ng/dL; p < 0.01) with higher percentage of the patients with sTg levels <1 ng/ml (50.6% vs. 69.4%; p = 0.01). More patients in the no-IONM group received RAI ablation with significantly higher doses (mean mci: 120 vs. 102; p = 0.02). CONCLUSION: The use of IONM during thyroidectomy provides improvement in the completeness of thyroidectomy and reduction in postoperative sTg levels which can be used as a guide by clinicians to avoid RAI ablation in selected PTC patients and to adjust low ablative doses in patients who are scheduled for remnant ablation.
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Pontuação de Propensão , Tireoglobulina , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide , Tireoidectomia , Humanos , Tireoidectomia/métodos , Masculino , Feminino , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/sangue , Câncer Papilífero da Tireoide/cirurgia , Câncer Papilífero da Tireoide/sangue , Pessoa de Meia-Idade , Tireoglobulina/sangue , Adulto , Monitorização Neurofisiológica Intraoperatória/métodos , Carcinoma Papilar/cirurgia , Carcinoma Papilar/sangue , Monitorização Intraoperatória/métodosRESUMO
Mastocytosis is a very rare disorder and is divided into three prognostically distinct variants by World Health Organization: Cutaneous mastocytosis (CM), systemic mastocytosis (SM), and mast cell sarcoma or localized mast cell (MC) tumors. The wide range of complaints may cause patients to consult various clinics, with resulting mis- or underdiagnosis. Therefore, cooperation between different subspecialties is of paramount importance. In this article, we have compiled 104 adult mastocytosis cases diagnosed and followed in our Hematology and other clinics. 86 (82.7%) of 104 patients had systemic mastocytosis. Osteoporosis, disease-related complications, and secondary malignancies are important topics in this group. We know that indolent form has great survival. But smoldering or aggressive mastocytosis has a poor prognosis. CM and indolent SM have a significantly better prognosis compared to aggressive SM (p < 0.001). We found that the presence of more than 25% of mast cells in the bone marrow, the presence of concomitant marrow dysplasia, and the presence of disease-related complications affect survival (p < 0.001). In addition to the WHO classification, the IPSM scoring system is indicative of the prognosis in this rare disease.
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Mastocitose Sistêmica , Mastocitose , Transtornos Mieloproliferativos , Adulto , Humanos , Mastocitose Sistêmica/diagnóstico , Mastocitose Sistêmica/patologia , Mastocitose/diagnóstico , Mastocitose/epidemiologia , Mastócitos/patologia , Medula Óssea/patologia , Prognóstico , Transtornos Mieloproliferativos/patologiaRESUMO
INTRODUCTION: The intrapulmonary involvement of Castleman disease is extremely rare with very few cases reported in the literature. CASE REPORT: We present a case of a 16-year-old male who underwent pulmonary resection for Castleman disease. The tumor was located at the right hilum and measured 10 cm in diameter. The patient underwent an intrapericardial pneumonectomy with a mediastinal lymph node dissection because the tumor showed infiltration into the lung parenchyma, the major pulmonary vessels and the main bronchus. CONCLUSION: We emphasize that some cases with intrapulmonary Castleman disease may require a pneumonectomy if the tumor is centrally located.
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Hiperplasia do Linfonodo Gigante , Neoplasias Pulmonares , Adolescente , Hiperplasia do Linfonodo Gigante/diagnóstico por imagem , Hiperplasia do Linfonodo Gigante/cirurgia , Humanos , Pulmão , Neoplasias Pulmonares/cirurgia , Excisão de Linfonodo , Masculino , PneumonectomiaRESUMO
Thymic epithelial tumours are rare malignancies of the anterior superior mediastinum. Several studies have analysed the presence of c-KIT mutations in thymic carcinoma. Immunohistochemical c-KIT expression and mutations in exons 8, 9, 11, 13, 14, 17, and 18 of the KIT gene and in the promoter region of the TERT gene (chr5, 1,295,228C>T/A and 1,295,250C>T) were analysed by PCR based direct sequencing using representative formalin-fixed paraffin-embedded tumour samples of 18 thymic carcinomas. Of 18 patients, 4 test samples were excluded from the study due to inadequate DNA quality. Of 14 patients with thymic carcinomas, KIT and TERT mutation was not detected in any samples. C-KIT expression was associated with nearly a worse overall survival (median time 24.160-49.840, log-rank, p = 0.05). We showed that squamous cell carcinomas led to worse survival than other subtypes. As expected, TNM stage II was significantly correlated with better OS (p = 0.015). Thymic carcinoma is characterised by a KIT-positive and CD5-positive staining pattern. We report a worse overall survival for patients with c-kit expressing tumours. These data suggest a negative prognostic role for c-kit expression especially within the first 5 years.
Assuntos
Proteínas Proto-Oncogênicas c-kit/genética , Timoma , Neoplasias do Timo , Carcinoma de Células Escamosas , Humanos , Mutação , Timoma/genética , Neoplasias do Timo/genéticaRESUMO
We report a case of an oncocytic lipoadenoma of the submandibular gland, which is a very rare benign tumor of the salivary gland. The patient was a 36-year-old man with a right submandibular mass measuring 29â×â1.3â×â1.2âcm. When the preoperative diagnostic tools were insufficient to rule out malignancy and for definite diagnosis, total removal of the gland was performed. Histopathologically, microscopic examination revealed a well-circumscribed tumor that is surrounded by a thin, fibrous capsule. The majority of the tumor consisted of adipocytes and normal components of salivary gland tissue. Oncocytic cells were observed only focally. Physicians should keep in mind that salivary glands may rarely exhibit this special tumor growth pattern.
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Adenoma , Lipoma , Neoplasias de Tecidos Moles , Glândula Submandibular , Adipócitos , Adulto , Humanos , Masculino , Glândula Submandibular/diagnóstico por imagem , Glândula Submandibular/patologiaRESUMO
The current therapeutic approach to patients with locally advanced rectal cancer is neoadjuvant radiotherapy or chemoradiotherapy followed by total mesorectal excision. We aimed to investigate the number, size, and distribution of metastatic and nonmetastatic lymph nodes within the mesorectum; whether neoadjuvant therapy has any impact on the number and size of the lymph nodes; and the impact of metastatic lymph node localization on overall and disease-free survival. Specimens from 50 consecutive patients with stage II/III rectal cancer receiving either neoadjuvant radiotherapy or chemoradiotherapy were investigated. Lymph node dissection was carried out by careful visual inspection and palpation. The localization of the each lymph node within the mesorectum and the relation with the tumor site were noted. The size and the number of lymph nodes retrieved decreased significantly with neoadjuvant therapy. Majority of the metastatic and nonmetastatic lymph nodes were located at or proximally to the tumor level and posterior side of the mesorectum. No relation was observed between the overall and disease-free survival, and the localization of the metastatic lymph nodes. Presence of lymph node metastases proximal to the tumor level has no impact on survival compared with the presence of lymph node metastasis only in the peritumoral region of the mesorectum. Although neoadjuvant therapy decreases the size and the number of lymph nodes, reaching an ideal number of lymph nodes for accurate staging is still possible with careful naked eye examination and dissection of perirectal fat. As the majority of metastatic and nonmetastatic lymph nodes are located in peritumoral and proximal compartment, and posterior side of the mesorectum, these regions should be the major interest of dissection.
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Adenocarcinoma/patologia , Linfonodos/efeitos dos fármacos , Linfonodos/efeitos da radiação , Metástase Linfática/patologia , Terapia Neoadjuvante/métodos , Neoplasias Retais/patologia , Adenocarcinoma/mortalidade , Adenocarcinoma/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Quimiorradioterapia , Intervalo Livre de Doença , Feminino , Humanos , Estimativa de Kaplan-Meier , Excisão de Linfonodo/métodos , Linfonodos/patologia , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias/métodos , Radioterapia , Neoplasias Retais/mortalidade , Neoplasias Retais/terapiaAssuntos
Doença Relacionada a Imunoglobulina G4 , Aplasia Pura de Série Vermelha , Ciclosporina , Humanos , Doença Relacionada a Imunoglobulina G4/complicações , Doença Relacionada a Imunoglobulina G4/diagnóstico , Doença Relacionada a Imunoglobulina G4/tratamento farmacológico , Imunossupressores , Aplasia Pura de Série Vermelha/diagnóstico , Aplasia Pura de Série Vermelha/tratamento farmacológico , Aplasia Pura de Série Vermelha/etiologiaRESUMO
We report a 32-year-old patient who underwent laparoscopy with classical symptoms and signs of acute appendicitis. An inflamed, edematous and non-perforated appendix, also a large amount gelatinous ascites, omental and peritoneal implants were seen. Appendectomy was performed and multiple biopsies were taken from omentum and peritoneum for definitive diagnosis. Histopathologic diagnosis was a metastatic gastric signet-ring cell carcinoma (GSRCC) involving appendix and other specimens. A flat lesion involving corpus to antrum was diagnosed by gastroscopy and GSRCC was verified histopathologically in a tertiary centre and the case evaluated as stage IV gastric carcinoma. This case with no sign of gastric cancer was presented as an acute appendicitis. Metastatic carcinoma to the appendix, causing acute appendicitis is extremely rare in clinical practice and usually associated with high morbidity and mortality.
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PURPOSE: The aim of this study was to investigate the role of transglutaminase 2(TG2) in renal cell carcinoma (RCC) by comparing the immunohistochemistry staining of primary and metastatic tumor tissues. METHODS: A total of 33 metastatic RCC(mRCC) and 33 non-metastatic RCC (nmRCC) patients who were matched as closely as possible based on gender, age, nuclear grade and pathologic T stage were retrospectively investigated. TG2 immunohistochemistry staining was performed on paraffin-embedded primary tumor tissues from both patient groups and on metastatic tissues from mRCC patients. The tissues were scored from 0 to 7 according to the TG2 staining. Furthermore, the patients were stratified into two groups using median primary tumor staining score as the cutoff value: Group 1 (high risk, n = 41) and Group 2(low risk, n = 22). The clinical, histopathological and survival outcomes were compared between these risk groups using Chi-square test, t test, Mann-Whitney U test and Kaplan-Meier survival analyses. RESULTS: The median TG2 score for primary tumor was 5 for the entire study population. The median primary tumor TG2 score of the mRCC patients was significantly higher compared to the nmRCC patients (6 vs. 4, p < 0.001). The TG2 score between the primary and metastatic tissues of mRCC patients was not significantly different (6 vs. 7, p = 0.086). The percentage of metastatic patients was significantly higher in Group 1 compared to Group 2 (68.3 vs. 18.2 %, p < 0.001). Kaplan-Meier analyses showed that 5-year disease-free (34.9 vs. 92.9 %, p = 0.001) and cancer-specific (47.4 vs. 86.5 %, p = 0.04) survival rates were significantly lower in high-risk group. CONCLUSIONS: The increased expression of TG2 in primary tumor predicts metastasis in RCC patients and is also associated with a decrease in disease-free and cancer-specific survival outcomes.
Assuntos
Carcinogênese , Carcinoma de Células Renais/enzimologia , Proteínas de Ligação ao GTP/biossíntese , Neoplasias Renais/enzimologia , Transglutaminases/biossíntese , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/biossíntese , Carcinoma de Células Renais/mortalidade , Carcinoma de Células Renais/secundário , Intervalo Livre de Doença , Feminino , Proteínas de Ligação ao GTP/sangue , Humanos , Imuno-Histoquímica , Neoplasias Renais/mortalidade , Neoplasias Renais/patologia , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Estadiamento de Neoplasias , Prognóstico , Proteína 2 Glutamina gama-Glutamiltransferase , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Transglutaminases/sangue , Turquia/epidemiologiaRESUMO
Granular cell tumour (GCT), which is a rare benign soft tissue neoplasm, is mostly found in the skin and soft tissue but may develop anywhere in the body. There are less than 10 reported cases of mediastinal GCTs in the current literature. Furthermore, colonic GCTs have recently gained attention due to the increased public awareness on the importance of colonoscopy screening. We report a case of a 52-year-old woman diagnosed incidentally with synchronous GCTs of the mediastinum and the hepatic flexure on her routine screening for post-operative follow-up for status-post right modified radical mastectomy due to a T2N1M0, Stage 2B breast cancer.
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Rosai-Dorfman disease (RDD) is a benign histiocytosis with unknown etiology. It generally occurs in cervical lymph nodes. Isolated central nervous system (CNS) RDD is very rare in the literature. We reported a case of no systemic involvement Rosai-Dorfmann which is rarely seen and shows CNS involvement by mimicking meningioma. A 32-year-old man presented with diplopia and a headache he has been experiencing for the past two years. His neurological examination showed left facial paresthesia, consistent with trigeminal nerve trace. Tendon reflexes were increased at the right side and the right plantar reflex was extensor. Brain magnetic resonance imaging demonstrated irregularly shaped, tumor-like lesions in the bilateral cerebellopontin area that were compressing pons. Rosai-Dorfman disease can be differentiated from IgG4 related disease (IgG4-RD) by its characteristic features such as plasma cell density and emperipolesis seen in its histopathology. Rosai-Dorfman disease can be confused with other diseases radiologically and histopathologically, especially the IgG4-RD, so be careful about differential diagnosis.
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CONTEXT: Noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) was introduced as a new entity replacing the diagnosis of noninvasive encapsulated follicular variant of papillary thyroid carcinoma (PTC). Significant variability in the incidence of NIFTP diagnosed in different world regions has been reported. OBJECTIVE: To investigate the rate of adoption of NIFTP, change in practice patterns, and uniformity in applying diagnostic criteria among pathologists practicing in different regions. METHODS: Two surveys distributed to pathologists of the International Endocrine Pathology Discussion Group with multiple-choice questions on NIFTP adoption into pathology practice and whole slide images of 5 tumors to collect information on nuclear score and diagnosis. Forty-eight endocrine pathologists, including 24 from North America, 8 from Europe, and 16 from Asia/Oceania completed the first survey and 38 the second survey. RESULTS: A 94% adoption rate of NIFTP by the pathologists was found. Yet, the frequency of rendering NIFTP diagnosis was significantly higher in North America than in other regions (P = .009). While the highest concordance was found in diagnosing lesions with mildly or well-developed PTC-like nuclei, there was significant variability in nuclear scoring and diagnosing NIFTP for tumors with moderate nuclear changes (nuclear score 2) (case 2, P < .05). Pathologists practicing in North America and Europe showed a tendency for lower thresholds for PTC-like nuclei and NIFTP than those practicing in Asia/Oceania. CONCLUSION: Despite a high adoption rate of NIFTP across geographic regions, NIFTP is diagnosed more often by pathologists in North America. Significant differences remain in diagnosing intermediate PTC-like nuclei and respectively NIFTP, with more conservative nuclear scoring in Asia/Oceania, which may explain the geographic differences in NIFTP incidence.
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Objective: Diffuse large B-cell lymphoma (DLBCL) is a biologically heterogeneous disease that is classified into germinal center B-cell (GCB) and non-GCB subtypes, which are prognostically different. The Hans algorithm is the most widely used tool based on CD10, BCL6, and MUM1 expression, but some cases with the non-GCB phenotype are still known to be misclassified. In this study, we investigate the extent to which GCET1, HGAL, and LMO2 protein expressions reflect GCB phenotype together with their roles in determining the GCB phenotype of DLBCL and their contributions to the performance of the Hans algorithm. Materials and Methods: Sixty-five cases of DLBCL-not otherwise specified, 40 cases of follicular lymphoma (FL), and 19 non-GC-derived lymphoma cases were included in this study. The DLBCL cases were grouped as CD10+ (Group A) or only MUM1+ (Group B), and the remaining cases constituted the intermediate group (Group C). GCET1, HGAL, and LMO2 expressions were evaluated. Results: In the FL group, GCET1, HGAL, and LMO2 were positive in 85%, 77.5%, and 100% of the cases, respectively. Among the non-GC-derived lymphoma cases, all three markers were negative in cases of small lymphocytic lymphoma, plasmablastic lymphoma, peripheral T-cell lymphoma, and anaplastic large cell lymphoma. GCET1 and HGAL were negative in cases of marginal zone lymphoma (MZL) and mantle cell lymphoma (MCL). Two of the 3 MZL and 2 of the 4 MCL cases were positive for LMO2. In the DLBCL group, the number of cases with GCET1, HGAL, and LMO2 positivity was 18 (90%), 17 (85%), and 20 (100%), respectively, in Group A and 0 (0%), 2 (13.3%), and 2 (13.3%), respectively, in Group B. Considering these rates, when the cases in the intermediate group were evaluated, it was concluded that 13 cases typed as non-GCB according to the Hans algorithm may have the GCB phenotype. Conclusion: GCET1, HGAL, and LMO2 are highly sensitive markers for determining the germinal center cell phenotype and can increase the accuracy of the subclassification of DLBCL cases, especially for cases that are negative for CD10.
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Linfoma Folicular , Linfoma Difuso de Grandes Células B , Adulto , Humanos , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Centro Germinativo/metabolismo , Centro Germinativo/patologia , Peptídeos e Proteínas de Sinalização Intracelular/genética , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Proteínas com Domínio LIM/genética , Proteínas com Domínio LIM/metabolismo , Linfoma Folicular/patologia , Linfoma Difuso de Grandes Células B/genética , Proteínas de Neoplasias/genética , Fenótipo , Proteínas Proto-Oncogênicas/genéticaRESUMO
PURPOSE: Even though subcutaneous panniculitis-like T-cell lymphoma (SPTCL) and lupus erythematosus panniculitis (LEP) are two separate entities, recently they were claimed to represent two ends of a spectrum of T-cell-mediated orbital lymphoproliferative diseases. METHODS: A 78-year-old woman presented with a 1-month history of right-sided periorbital swelling and redness. There was a palpable mass in the medial right lower eyelid with restriction of upward and lateral gaze. MRI revealed a 14 × 7 mm hypointense lesion in the anteromedial orbit. RESULTS: The systemic and ocular findings, orbital biopsy with histopathology and immunochemistry showed overlapping features of LEP and SPTCL. The patient was consulted with rheumatology and hematology, and the physicians arrived at a consensus that the patient existed in the above-mentioned disease spectrum. She was started on systemic immunosuppressive treatment and her clinical findings improved substantially. CONCLUSIONS: This is the first report of a patient, who presented with orbital mass causing vision loss and gaze restriction that had overlapping clinical and histopathologic features of LEP and SPTCL consistent with this novel disease spectrum, in the literature.
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Linfoma de Células T , Doenças Orbitárias , Paniculite de Lúpus Eritematoso , Paniculite , Humanos , Feminino , Idoso , Paniculite de Lúpus Eritematoso/diagnóstico , Paniculite de Lúpus Eritematoso/tratamento farmacológico , Paniculite de Lúpus Eritematoso/patologia , Paniculite/diagnóstico , Paniculite/etiologia , Paniculite/patologia , Linfoma de Células T/complicações , Linfoma de Células T/diagnóstico , Linfoma de Células T/tratamento farmacológicoRESUMO
Kidney involvement is rare in non-Hodgkin's lymphomas (NHL), and can be caused by direct lymphoid infiltration, paraneoplastic glomerulonephritis (GN), or both. Herein, we present a case of acute kidney injury (AKI) due to renal cyclin-D1 positive B cell lymphoma infiltration. To our knowledge, this is the first case where a renal biopsy revealed intravascular neoplastic cells along with parenchymal infiltration.
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Linfoma de Células B , Linfoma não Hodgkin , Humanos , Medula Óssea/patologia , Rim/patologia , Linfoma de Células B/patologia , Linfoma não Hodgkin/patologia , CiclinasRESUMO
Progress in the field of pediatric thyroid pathology has linked DICER1 mutations to benign follicular cell-derived thyroid tumors (e.g., follicular adenoma with papillary architecture, follicular nodular disease), low-risk follicular cell-derived differentiated thyroid carcinomas and PDTCs enriched in fatal or recurrent/progressive disease. The dismal outcome of DICER1-harboring pediatric PDTCs stems from a limited number of reported patients' data given the rarity of pediatric PDTCs. In light of the former observations, the current study assessed clinicopathological variables of a series of 5 pediatric (≤ 18 years old) PDTCs using the Turin criteria (WHO 2022) and also examined the status of DICER1 and TERT promoter mutations. Five PDTCs (3 males, 2 females) were included in the study. The mean age at the time of diagnosis was 15.4 years. No patients had a history of DICER1 syndrome-related tumors or other clinicopathological diagnostic features of DICER1 syndrome. The mean tumor size was 3.9 cm. All tumors were completely submitted for microscopic examination. There was increased mitotic activity ranging from 3 to 10 mitoses per 2 mm2. Tumor necrosis was present in two cases. No PDTC harbored TERT promoter mutation. DICER1 hot spot mutation was identified in one (20%) tumor. The DICER1-mutant tumor had neither associated differentiated thyroid carcinoma component nor other pathological findings in the adjacent thyroid parenchyma. The DICER1-mutant PDTC showed widely invasive growth confined to the thyroid parenchyma. Despite the widely invasive growth, the tumor lacked vascular invasion. Two DICER1 wild-type PDTCs had lymphocytic thyroiditis and another one had underlying follicular nodular disease and/or follicular adenomas. Three DICER1 wild-type PDTCs also had an associated differentiated thyroid carcinoma component with no high-grade features. No abnormal p53 expression (overexpression or global loss) was recorded in all tested tumors. Four patients had follow-up data with a mean follow-up time of 60.25 months (range: 18-86 months). One patient with no evidence of disease recurrence died of an unrelated cause after 18 months of the initial surgery, all remaining patients were alive with no distant metastasis at their last visit. Of the 4 patients with lymph node (LN) dissection, one DICER1 wild-type PDTC had recurrent nodal disease. During the follow-up period (72 months), no local recurrence or distant metastases was detected in the DICER1-mutant PDTC. Taken together all reported findings from earlier series, DICER1 mutations alone may not necessarily indicate dismal outcome in a subset of pediatric PDTCs. The occurrence of additional genomic alterations as discussed in some earlier reports may be contributing to tumor progression or aggressivity of pediatric PDTCs. The lack of vascular invasion in the current DICER1-mutant pediatric PDTC may also explain an indolent biologic outcome. The risk escalation of DICER1 mutations should integrate the status of additional genetic events and well-established pathologic variables in order to ensure predictive dynamic risk stratification in DICER1-mutant pediatric PDTCs. Additional studies are needed to corroborate the findings of this study and advance our knowledge in pediatric thyroid neoplasia.
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Adenocarcinoma Folicular , Adenocarcinoma , Adenoma Oxífilo , Neoplasias da Glândula Tireoide , Masculino , Feminino , Humanos , Criança , Adolescente , Neoplasias da Glândula Tireoide/patologia , Prognóstico , Mutação , Adenocarcinoma Folicular/genética , Adenocarcinoma Folicular/patologia , Ribonuclease III/genética , RNA Helicases DEAD-box/genéticaRESUMO
PURPOSE: Transglutaminase 2 (TG2) is associated with mobilization, invasion, and chemoresistance of tumor cells. We aimed to determine whether the immunohistochemical staining with TG2 antibody differs between metastatic and non-metastatic papillary thyroid cancer patients. METHODS: We included 76 patients with papillary thyroid cancer (72% female, median age 52 (24-81) years, follow-up time 107 (60-216) months). Thirty of them with no metastasis, 30 of them with only lymph node metastasis and 16 patients with distant ± lymph node metastasis. Immunohistochemical staining of TG2 antibody was evaluated in the primary tumor and extra-tumoral tissue. We also divided subjects into two groups according to their primary tumor TG2 staining score (group A, high risk group: ≥3, n = 43; group B, low risk group: <3, n = 33). RESULTS: Vascular invasion (p < 0.001), thyroid capsule invasion (p < 0.001), extrathyroidal extension (p < 0.001), intrathyroidal dissemination (p = 0.001), lymph node metastasis (p < 0.001), presence of aggressive histology (p < 0.001) were significantly higher in group A. No significant difference was found between the groups in terms of distant metastasis. Based on ATA risk classification 95.5% of patients with low risk were in group B but 86.8% of intermediate risk and 56.3% of high risk were in group A. In regression analysis, lymph node metastasis increased by 1.9 times with each one point increase in TG2 staining score. CONCLUSION: TG2 staining score of the primary tumor may be a predictive factor for lymph node metastasis. High or low TG2 scores may effect the frequency of follow-up and decision of treatment regimens.
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Neoplasias da Glândula Tireoide , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Metástase Linfática/patologia , Proteína 2 Glutamina gama-Glutamiltransferase , Tireoidectomia , Linfonodos/patologia , Fatores de Risco , Estudos RetrospectivosRESUMO
Thymoma associated myasthenia gravis (TAMG) is a small disease subgroup with autoantibodies against the acetylcholine receptor. The aim of this study was to assess the role of T helper (Th) cells in TAMG compared to thymoma patients without MG (TOMA) and healthy controls (HC). Peripheral blood cells were used for intracellular cytokine measurements and phenotyping of CD4+ Th cells. IL-21 and IL-4 productions and peripheral Th cells were higher in TAMG compared to TOMA patients and HC. Increases of ICOS and Th17 population were detected both in TAMG and TOMA groups. Higher IL-10 and Th1 population have been observed related to thymectomy. ICOS expression and Th17 induced by thymoma may contribute to the development of TAMG.