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1.
Eur J Breast Health ; 20(2): 110-116, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38571692

RESUMO

Objective: Neuroendocrine neoplasms of primary breast tumors are rare compared to locations, such as the respiratory system and gastrointestinal system, where they are frequently observed. The diagnostic criteria for primary neuroendocrine tumors of the breast have been changed since first description. Morphological and immunohistochemical features helpful in their diagnosis, which vary due to the heterogeneous nature of these tumors, are highlighted in this retrospective study. The purpose was to determine specific histopathological features that can identify neuroendocrine morphology in primary breast tumors. Materials and Methods: Cases diagnosed with invasive breast carcinoma from resection materials in a single center between 2011 and 2022 and in which neuroendocrine markers were investigated were included. Demographic information, initial histopathological diagnosis, presence of tumor in another organ, tumor location, size and surgical details of the cases were obtained from the hospital database and pathology reports. The slides were re-evaluated in terms of tumor growth pattern, cribriformity, tubule formation, nuclear features, prominence of nucleoli, palisading and basal location of nuclei, presence of grooves, cytoplasmic features and evidence of cytoplasmic border. Results: The presence of basally located nuclei, absence of tubule formation, inconspicuous nucleoli, fine nuclear chromatin, granular cytoplasm and inconspicuous cytoplasmic borders were frequent findings in tumors with neuroendocrine features (p<0.05). These features may help differentiate primary breast tumors with neuroendocrine features from other breast carcinomas. Conclusion: The histopathological features that are different from the specific features seen in classical neuroendocrine tumors, the absence of specific clinical and radiological findings, the inability to study neuroendocrine markers in every laboratory and the need to prove that the breast tumor is not a metastasis all create diagnostic difficulties for primary breast neuroendocrine neoplasms. We believe that the results of this study may help diagnose and identify more specific histomorphological features that help determine neuroendocrine morphology in primary breast tumors.

2.
Mult Scler Relat Disord ; 85: 105537, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38460252

RESUMO

BACKGROUND: Many different pathologies may underlie tumefactive demyelinating lesions. Identifying clinical and radiologic distinguishing features before pathologic examination is essential for diagnosis and treatment. In this study, we aimed to determine the clinical and radiologic features affecting the etiology and disease course of patients with tumefactive lesions (TDL). MATERIALS AND METHODS: We included 35 clinicoradiologically or histologically diagnosed TDL patients in our center over 11 years. Patient records were retrospectively evaluated and recorded. Clinical features, cerebral neuroimaging, and histologic biopsy preparations, if any, were assessed by three independent neurologists, two neuroradiologists, and two pathologists at admission and follow-up, respectively. RESULTS: The mean age of patients with TDL was 40.02±14.40 years. Symptom onset was 15 (1-365) days. The most common complaints at initial presentation were hemiparesis or hemiplegia, sensory complaints, and cognitive impairment (aphasia or apraxia). The lesions were most commonly localized in the frontal lobe (42.9 %). Mass effect was 17.1 %, edema 60 %, diffusion restriction 62.1 %, and contrast enhancement 71.9 % (mostly ring-shaped (68.8 %)) on MR images. Acute onset and OCB type-2 positivity were associated with MS diagnosis. On the other hand, CSF protein levels above 45 mg/dL were found to be related to non-MS etiologies. Only the predominance of aphasia or apraxia at onset was a risk factor for early high disability (EDSS>4; 3rd month). Subacute-chronic onset, being older than 40 years, or having brainstem symptoms at onset were independent risk factors for late high disability (2nd year). CONCLUSION: Acute onset or OCB type 2 positivity is a clue for early diagnosis of MS, while elevated CSF protein is a clue for demyelinating diseases other than MS. Presentation with cognitive dysfunction at onset is an independent risk factor for early disability, while age above 40 years, subacute-chronic presentation and brainstem findings at presentation are independent risk factors for late disability.


Assuntos
Imageamento por Ressonância Magnética , Esclerose Múltipla , Humanos , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/patologia , Esclerose Múltipla/diagnóstico por imagem , Esclerose Múltipla/complicações , Estudos Retrospectivos , Prognóstico , Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/diagnóstico por imagem , Doenças Desmielinizantes/etiologia , Doenças Desmielinizantes/patologia , Adulto Jovem , Encéfalo/diagnóstico por imagem , Encéfalo/patologia
3.
Int J Surg Pathol ; : 10668969231214805, 2023 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-38073094

RESUMO

Background. With <40 case reports published in the English literature, mucinous cystadenocarcinoma of the breast is quite rare compared to its counterparts in the ovary, pancreas, and appendix. The purpose of this case report is to enrich scientific data by sharing the clinicopathological features of this new and extremely rare entity and present possible difficulties encountered in the biopsy materials. Case Report. A 34-year-old female patient presented with the complaint of white discharge from her left nipple lasting 8 months. Physical and radiological examination of the patient revealed a mass in the lower quadrant of the left breast and tru-cut biopsy was performed. The diagnosis of invasive breast carcinoma of no special type was reported. After neoadjuvant chemotherapy, left subcutaneous mastectomy and left sentinel lymph node biopsy were performed. Microscopic evaluation of the mastectomy material revealed a tumor consisting of stratified columnar cells with basally located nuclei and intracytoplasmic mucin, showing papillary structures and tufting toward the lumen. Peripheral myoepithelial cells were not identified with p63 and calponin immunohistochemistry. The diagnosis of mucinous cystadenocarcinoma was given through histomorphological and immunohistochemical evaluations. Conclusion. Clarifying unknown points about this rare malignancy of the breast and understanding the tumor biology is possible through evaluation of case reports. For this purpose, our case of primary mucinous cystadenocarcinoma is presented and its clinicopathological features are briefly discussed.

4.
Int J Surg Pathol ; : 10668969231201415, 2023 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-37899598

RESUMO

OBJECTIVE: When the clinical presentation is related to the metastatic mass and a radiologically solitary tumor focus is detected, especially in cases where clinical information is not taken into account or is insufficient, if a possible metastatic neoplasia is not kept in mind then it is possible to evaluate the tumor as a primary breast neoplasm. In this study, it is aimed to present our cases of non-hematopoietic metastatic neoplasms and to evaluate the clinicopathological features that may aid in distinguishing metastatic from primary neoplasms. MATERIAL AND METHODS: This study includes cases diagnosed with metastatic non-hematopoietic breast neoplasm in breast resection materials in our center, between the years 2010-2023. All cases were analyzed retrospectively by evaluating clinicopathological features. RESULTS: Of the 15 subjects included in the study, 11 (73%) were female and 4 (27%) were male. The mean age of the patients were 46.9 ranged from 22 to 63 years. The most frequent metastatic malignancy was carcinoma (60%), followed by melanoma (33%) and sarcoma (7%). Of the 9 patients with metastatic carcinoma, the primary tumor originated from the lungs in 4, from gastrointestinal system in 2, female genital tract in 2, and kidney in 1 patient. Sarcoma diagnosis was given in a single patient and the histology was a leiomyosarcoma originating from kidney. CONCLUSION: A careful histomorphological and immunohistochemical evaluation and a detailed examination of the clinicoradiological data are critical to establish the right course in patient management, treatment plan and to correctly predict the prognosis.

5.
Indian J Pathol Microbiol ; 66(3): 655-658, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37530364

RESUMO

Crystal storing histiocytosis is a disorder characterized by local or diffuse infiltration of histiocytes containing crystalline inclusions. This entity has been reported in several organs, however the involvement of the central nervous system (CNS) is extremely rare and to date only 7 cases of crystal storing histiocytosis (CSH) of CNS have been reported in the English literature. More than 90% patients with CSH had an underlying lymphoproliferative or plasma cell disorders, especially multiple myeloma, lymphoplasmacytic lymphoma or monoclonal gammopathy. Radiologically and intraoperatively, CSH may mimic an infectious process or neoplasm, hence its histopathological confirmation is important to facilitate appropriate treatment. In this report, we describe an additional case of crystal storing histiocytosis in a 48 year old female who presented with a mass lesion in the right temporal lobe of the cerebrum.


Assuntos
Histiocitose , Gamopatia Monoclonal de Significância Indeterminada , Mieloma Múltiplo , Paraproteinemias , Feminino , Humanos , Pessoa de Meia-Idade , Histiocitose/diagnóstico , Histiocitose/patologia , Lobo Temporal/diagnóstico por imagem , Lobo Temporal/patologia
6.
Turk Neurosurg ; 33(5): 906-911, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37528723

RESUMO

AIM: To comprehensively analyze clinical presentation, diagnosis, and management approaches of brain tumors in infants under one year of age. MATERIAL AND METHODS: We conducted a retrospective analysis of clinical data retrieved from medical records of infants who underwent surgical treatment for intracranial mass lesions at our institution from January 2006 to December 2016. The data encompassed parameters such as age at diagnosis, symptoms, tumor location, histology, surgical procedures, adjuvant treatment, and survival outcomes. Cases involving dermoid, epidermoid cysts, and other skull-based lesions were excluded from the analysis. RESULTS: Our analysis identified twenty-three cases of brain tumors diagnosed within the first year of life, comprising 14 boys and 9 girls. The median age at diagnosis was 8.2 months, and the most common presenting symptoms were nausea and vomiting, as well as head circumference abnormalities. Successful gross total resection was achieved in 75.8% of patients, with choroid plexus papilloma being the most frequently encountered histopathological diagnosis. Eight patients received adjuvant chemotherapy, while one patient underwent salvage radiotherapy. CONCLUSION: The treatment of brain tumors in infants during their first year of life presents significant challenges. The affected patients exhibit diverse tumor pathologies occurring at various locations within the brain. Further research is warranted to establish optimal treatment options for this specific population.


Assuntos
Neoplasias Encefálicas , Masculino , Feminino , Humanos , Lactente , Estudos Retrospectivos , Neoplasias Encefálicas/cirurgia , Resultado do Tratamento , Quimioterapia Adjuvante , Cabeça
7.
Eur J Breast Health ; 19(3): 235-252, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37415649

RESUMO

Objective: Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, BRCA1 and BRCA2, which are strongly associated with BC, are included in these criteria. The aim of this study was to compare BC index cases with non-BC individuals in terms of genotype and diagnostic features to investigate the genotype/demographic information association. Materials and Methods: Mutational analyses for the BRCA1/BRCA2 genes was performed in 2475 individuals between 2013-2022 from collaborative centers across Turkey, of whom 1444 with BC were designated as index cases. Results: Overall, mutations were identified in 17% (421/2475), while the percentage of mutation carriers in cases of BC was similar, 16.6% (239/1444). BRCA1/BRCA2 gene mutations were detected in 17.8% (131/737) of familial cases and 12% (78/549) of sporadic cases. Mutations in BRCA1 were found in 4.9%, whereas 12% were in BRCA2 (p<0.05). Meta-analyses were performed to compare these results with other studies of Mediterranean-region populations. Conclusion: Patients with BRCA2 mutations were significantly more common than those with BRCA1 mutations. In sporadic cases, there was a lower proportion with BRCA1/BRCA2 variants, as expected, and these results were consistent with the data of Mediterranean-region populations. However, the present study, because of the large sample size, revealed more robust findings than previous studies. These findings may be helpful in facilitating the clinical management of BC for both familial and non-familial cases.

8.
Turk Neurosurg ; 33(5): 821-827, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37144653

RESUMO

AIM: To describe the role of metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) in glioblastoma (GB) progression in patients concurrently diagnosed with diabetes mellitus (DM). MATERIAL AND METHODS: Formalin-fixed paraffin-embedded (FFPE) tumor samples of 47 patients diagnosed with GB only and 13 patients diagnosed with GB and DM (GB-DM) were enrolled in this study. Data for p53 and Ki67 immunohistochemical staining of the tumors and blood HbA1c levels of patients with DM were retrospectively collected. MALAT1 expression was assessed using quantitative real-time polymerase chain reaction. RESULTS: The coexistence of GB and DM induced the nuclear expression of p53 and Ki67 compared with GB only. MALAT1 expression was higher in GB-DM tumors than in GB only tumors. The expression of MALAT1 and HbA1c levels were positively correlated. Additionally, MALAT1 was positively correlated with tumoral p53 and Ki67. The disease-free survival of patients with GB-DM with high MALAT1 expression was shorter than that of those diagnosed with GB only and with a lower MALAT1 expression. CONCLUSION: Our findings suggest that one of the mechanisms of the facilitating effect of DM on GB tumor aggressiveness is via MALAT1 expression.


Assuntos
Diabetes Mellitus , Glioblastoma , RNA Longo não Codificante , Humanos , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , Hemoglobinas Glicadas , Antígeno Ki-67 , Estudos Retrospectivos , Proteína Supressora de Tumor p53
9.
Neurocirugia (Astur : Engl Ed) ; 34(4): 177-185, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36775742

RESUMO

INTRODUCTION AND OBJECTIVES: Acute presentation with intracranial hemorrhage owing to a previously silent brain tumor (BT) is rare. Although any BT can bleed, the frequency and type of bleeding varies across tumor types. MATERIALS AND METHODS: We aimed to retrospectively review our experience with 55 patients with BTs presenting with ICH. RESULTS: Signs of increased intracranial pressure were the most common symptoms. The temporal lobe was the most common lesion site (n=22). Hemorrhages were mainly confined to the tumor margins (HCTs) (n=34). Extensive intraparenchymal hemorrhages (EIHs) were mainly associated with moderately/severely decreased levels of consciousness (LOCs) (n=15/16). High-grade glioma (HGGT) (n=25) was the leading pathological diagnosis followed by metastasis (MBT) (n=16/55). The hemorrhage type was associated with the pathological diagnosis of the tumor. Patients with HGGT (n=19/25) and MBT (n=9/16) mainly presented with HCTs, whereas low-grade gliomas (LGGT) primarily caused EIHs (n=6/7). CONCLUSIONS: Hemorrhagic presentation is a rare occurrence in BTs. Among all, MBT and HGGT are responsible for majority of the cases. Importantly, despite their relatively benign characteristics, LGGTs mainly result in extensive parenchymal destruction once they bleed. Maximum surgical resection of hemorrhagic BTs and decompression of the affected brain regions followed by histological confirmation of the diagnosis should be the main goals of treatment in cases with hemorrhagic BTs.


Assuntos
Neoplasias Encefálicas , Glioma , Humanos , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/etiologia , Estudos Retrospectivos , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/diagnóstico por imagem , Encéfalo , Glioma/complicações , Glioma/diagnóstico por imagem , Glioma/cirurgia
11.
Iran J Public Health ; 51(8): 1836-1846, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36249118

RESUMO

Background: Breast cancer is a heterogeneous disease and differences in the expression levels of the ER, PR, and HER2 the triplet of established biomarkers used for clinical decision-making have been reported among breast cancer patients. Furthermore, resistance to anti-estrogen and anti-HER2 therapies emerges in a considerable rate of breast cancer patients, and novel drug therapies are required. Several anomalous signaling pathways have been known in breast cancer have been known; heat shock protein 90 (HSP90) is one of the most plenty proteins in breast cells. The family of ubiquitin ligases such as SIAH1 and SIAH2 is known to specifically target misfolded proteins to the proteasome; also, they have been illustrated to play a role in RAS signaling and as an essential downstream signaling component required for EGFR/HER2 in breast cancer. Methods: The expression of SIAH2, HSP90, and HER2 was assessed by quantitative Real-Time PCR in 85 invasive ductal carcinoma breast tumor samples at Uludag University Hospital in Turkey during the years 2018-2019, and its association with the clinicopathologic variables of patients was evaluated. Results: HSP90, SIAH1, and SIAH2 were significantly (P=0.0271, P=0.022, and P=0.0311) upregulated tumor tissue of patients with breast cancer. Moreover, this study observed a significant association between the high expression of SIAH2/HSP90 with ER status, high expression of HSP90 with Recurrence/Metastasis, and high expression of SIAH2 with Ki-67 proliferation index. Conclusion: The HSP90 and SIAH2 expressions play a significant role in breast cancer development by combining the experimental and clinical data obtained from the literature.

12.
Neurol Res ; 44(3): 232-241, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34533098

RESUMO

ObjectiveThe appropriate treatments for the different molecular subgroups of medulloblastomas are challenging to determine. Hence, this study aimed to examine the expression profiles of long non-coding RNAs (LncRNAs) to determine a marker that may be important for treatment selection in these subgroups.MethodsChanges in the expression of LncRNAs in the tissues of patients with medulloblastoma, which are classified into four subgroups according to their clinical characteristics and gene expression profiles, were examined via reverse transcription polymerase chain reaction. Moreover, there association with patient prognosis was evaluated.ResultsThe expression levels of MALAT1 and SNGH16 were significantly higher in patients with group 3 medulloblastoma than in those with other subtypes. Patients with high expression levels of MALAT1 and SNGH16 had a relatively shorter overall survival than those with low expression levels.ConclusionsPatients with group 3 medulloblastoma have a high MALAT1 level, which is associated with poor prognosis. Therefore, MALAT1 can be a new therapeutic target in medulloblastoma.


Assuntos
Biomarcadores Tumorais/metabolismo , Neoplasias Encefálicas/metabolismo , Meduloblastoma/diagnóstico , Meduloblastoma/metabolismo , Meduloblastoma/mortalidade , RNA Longo não Codificante/metabolismo , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Prognóstico , Adulto Jovem
13.
Neurol Res ; 43(11): 916-925, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34210246

RESUMO

Objective: This study was designed to conduct molecular classification based on IDH1/2, TERT, ATRX, and DAXX changes in pediatric and adult primary glioblastoma (GB) and to analyze the potential interaction of LncRNA MALAT1 in the determined homogeneous subgroups.Methods: We analyzed the expression profiles of ATRX/DAXX and MALAT1 using the qRT-PCR method and IDH and TERT mutation status using DNA sequencing analysis in 85 primary pediatric and adult GB patients.Results: IDH1 mutation was observed in 5 (5.88%) and TERT mutation in 65 (76.47%) primary pediatric and adult GB patients. ATRX and DAXX were detected in 18 (21.18%) and 7 (8.24%) patients. TERT mutation and loss of ATRX/DAXX were associated with short overall survival (p < 0.001, p < 0.001, respectively). Patients carrying especially TERT C228T mutation had worse prognosis (p < 0.001). Six subgroups were obtained from the genetic analysis. Among the subgroups, MALAT1 was highly expressed in group A that had a single TERT mutation as compared to that in groups D and E (p = 0.001 and p < 0.001, respectively); further, high MALAT1 expression was associated with worse prognosis in patients with C228T mutation (p < 0.001).Conclusions: Our findings highlight that the presence of TERT C228T mutation and expression of MALAT1 can be used as primary targets during the follow-up of primary GB patients and in the development of new treatment strategies.


Assuntos
Biomarcadores Tumorais/genética , Neoplasias Encefálicas/genética , Glioblastoma/genética , RNA Longo não Codificante/genética , Telomerase/genética , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Prognóstico
14.
Sci Rep ; 11(1): 14662, 2021 07 19.
Artigo em Inglês | MEDLINE | ID: mdl-34282214

RESUMO

Blood-based biomarkers reflect systemic inflammation status and have prognostic and predictive value in solid malignancies. As a recently defined biomarker, Pan-Immune-Inflammation-Value (PIV) integrates different peripheral blood cell subpopulations. This retrospective study of collected data aimed to assess whether PIV may predict the pathological complete response (pCR) to neoadjuvant chemotherapy (NAC) in Turkish women with breast cancer. The study consisted of 743 patients with breast cancer who were scheduled to undergo NAC before attempting cytoreductive surgery. A pre-treatment complete blood count was obtained in the two weeks preceding NAC, and blood-based biomarkers were calculated from absolute counts of relevant cell populations. The pCR was defined as the absence of tumor cells in both the mastectomy specimen and lymph nodes. Secondary outcome measures included disease-free survival (DFS) and overall survival (OS). One hundred seven patients (14.4%) had pCR. In receiver operating characteristic analysis, optimal cut-off values for the neutrophile-to-lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), platelet-to-lymphocyte (PLR), PIV, and Ki-67 index were determined as ≥ 2.34, ≥ 0.22, ≥ 131.8, ≥ 306.4, and ≥ 27, respectively. The clinical tumor (T) stage, NLR, MLR, PLR, PIV, estrogen receptor (ER) status, human epidermal growth factor receptor-2 (HER-2) status, and Ki-67 index were significantly associated with NAC response in univariate analyses. However, multivariate analysis revealed that the clinical T stage, PIV, ER status, HER-2 status, and Ki-67 index were independent predictors for pCR. Moreover, the low PIV group patients had significantly better DFS and OS than those in the high PIV group (p = 0.034, p = 0.028, respectively). Based on our results, pre-treatment PIV seems as a predictor for pCR and survival, outperforming NLR, MLR, PLR in predicting pCR in Turkish women with breast cancer who received NAC. However, further studies are needed to confirm our findings.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/terapia , Inflamação/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/sangue , Neoplasias da Mama/sangue , Neoplasias da Mama/mortalidade , Terapia Combinada , Feminino , Humanos , Inflamação/sangue , Inflamação/patologia , Mastectomia , Pessoa de Meia-Idade , Terapia Neoadjuvante , Valor Preditivo dos Testes , Prognóstico , Projetos de Pesquisa , Estudos Retrospectivos , Análise de Sobrevida , Resultado do Tratamento , Microambiente Tumoral/imunologia , Turquia/epidemiologia , Adulto Jovem
15.
Turk Neurosurg ; 31(4): 554-565, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33978203

RESUMO

AIM: To determine the Wnt and SHH subtypes at the molecular level, and to compare them clinically by examining the changes in CTNNB1, AXIN, PTCH1, SMO, SUFU, and GLI1 mRNA expression in the medulloblastoma of a Turkish population determined according to patient selection criteria. In this context, the clinical distinction between Wnt and SHH groups are realized by considering the age, gender, survival time, location of the lesion, and radiological features of the patients. MATERIAL AND METHODS: Molecular separation was performed by RT-PCR analysis of CTNNB1, AXIN, PTCH1, SMO, SUFU, and GLI1 mRNA expression changes. RESULTS: About 17.8% and 22.2% of the cases were included in the Wnt and the SHH group, respectively. When comparing group differences based on clinical and molecular data, 72.7% and 66.6% of matches were observed in the Wnt and the SHH group, respectively. CONCLUSION: It has been revealed that molecular analysis and grouping of patients with medulloblastoma can provide support for clinically determined subgroups.


Assuntos
Neoplasias Cerebelares/diagnóstico , Proteínas Hedgehog/genética , Meduloblastoma/diagnóstico , Proteínas Wnt/genética , Adolescente , Neoplasias Cerebelares/classificação , Neoplasias Cerebelares/epidemiologia , Neoplasias Cerebelares/genética , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Meduloblastoma/classificação , Meduloblastoma/epidemiologia , Meduloblastoma/genética , Técnicas de Diagnóstico Molecular , Reação em Cadeia da Polimerase/métodos , Prognóstico , Estudos Retrospectivos , Turquia/epidemiologia , Via de Sinalização Wnt/genética , beta Catenina/genética
16.
Pediatr Neurosurg ; 56(2): 133-139, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33744906

RESUMO

INTRODUCTION: The noncoding RNAs (ncRNAs) play a role in biological processes of various cancers including gliomas. The majority of these transcripts are uniquely expressed in differentiated tissues or specific glioma types. Pediatric oligodendroglioma (POG) is a rare subtype of diffuse glioma and accounts for <1% of pediatric brain tumors. Because histologically POG resembles adult OG, the same treatment is applied as adults. However, the significance in predicting outcomes in POG patients is unclear. In this study, we aimed to investigate the prognostic significance of expression -profiles of microRNA (miRNA) and long noncoding RNA -(LncRNA) in POGs. METHODS: We investigated the levels of 13 known miRNAs and 6 LncRNAs in tumor samples from 9 patients with primary POG by using RT-PCR and analyzed their association with outcomes. RESULTS: The expression levels of miR-21, miR-106a, miR-10b, and LncRNA NEAT1 were higher, and the expression level of miR-143 was lower in POG tissues compared with normal brain tissues (p = 0.006, p = 0.032, p = 0.034, p = 0.002, and p = 0.001, respectively). High levels of NEAT1 and low expression of miR-143 were associated with decreased probability of short disease-free survival (p = 0.018 and p = 0.022, respectively). DISCUSSION: NEAT1 and miR-143 levels could serve as reciprocal prognostic predictors of disease progression in patients with POG. New treatment models to regulate the expression levels of NEAT1 and miR-143 will bring a new approach to the therapy of POG.


Assuntos
Glioma , MicroRNAs , Oligodendroglioma , RNA Longo não Codificante , Adulto , Criança , Regulação Neoplásica da Expressão Gênica , Glioma/genética , Humanos , MicroRNAs/genética , Oligodendroglioma/genética , RNA Longo não Codificante/genética
17.
Eur J Breast Health ; 16(1): 32-38, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31912011

RESUMO

OBJECTIVE: Phyllodes tumors are biphasic tumors consisting of epithelial and stromal components that account for less than 1% of all breast tumors. According to the World Health Organization (WHO) phyllodes tumors are classified into three categories as benign, borderline and malignant. It has been reported that these tumors are usually benign and both the stromal component and the epithelial component may progress to malignancy. In this descriptive study, it was aimed to present the cases of phyllodes tumor and to evaluate the clinicopathological features of these tumors in the light of the literature. MATERIALS AND METHODS: In our study, 55 cases of phyllodes tumor diagnosed between 2005-2018 in the Department of Medical Pathology were retrospectively studied. A total of 55 cases were included in the study. RESULTS: All cases were female with a mean age of 39.7+15.2 years. Fifty-seven tumors diagnosed in 55 cases were classed as benign in 20 cases (35.1%), borderline in 14 cases (24.6%) and malignant phyllodes tumors in 23 cases (40.3%). Ductal carcinoma in situ (solid and cribriform type) were detected in one case with malignant phyllodes tumor, whereas invasive ductal carcinoma was detected in one case. Bilateral ductal carcinoma in situ was present in the patient with invasive ductal carcinoma. CONCLUSION: These tumors which rapidly grow into large masses can be clinically and pathologically confused with benign lesions, macroscopic and microscopic evaluation of concomitant in situ-invasive carcinomas should be considered. Phyllodes tumors have an important role in breast surgery and pathology.

18.
Bosn J Basic Med Sci ; 20(1): 63-69, 2020 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-31479414

RESUMO

Primary glioblastoma (GB) is the most aggressive type of brain tumors. While mutations in isocitrate dehydrogenase (IDH) genes are frequent in secondary GBs and correlate with a better prognosis, most primary GBs are IDH wild-type. Recent studies have shown that the long noncoding RNA metastasis associated lung adenocarcinoma transcript-1 (MALAT1) is associated with aggressive tumor phenotypes in different cancers. Our aim was to clarify the prognostic significance of MALAT1 in IDH1/2 wild-type primary GB tumors. We analyzed IDH1/2 mutation status in 75 patients with primary GB by DNA sequencing. The expression of MALAT1 was detected in the 75 primary GB tissues and 5 normal brain tissues using reverse transcription quantitative PCR (RT-qPCR). The associations between MALAT1 expression, IDH1/2 mutation status, and clinicopathological variables of patients were determined. IDH1 (R132H) mutation was observed in 5/75 primary GBs. IDH2 (R172H) mutation was not detected in any of our cases. MALAT1 expression was significantly upregulated in primary GB vs. normal brain tissues (p = 0.025). Increased MALAT1 expression in IDH1/2 wild-type primary GBs correlated with patient age and tumor localization (p = 0.032 and p = 0.025, respectively). A multivariate analysis showed that high MALAT1 expression was an unfavorable prognostic factor for overall survival (p = 0.034) in IDH1/2 wild-type primary GBs. High MALAT1 expression may have a prognostic role in primary GBs independent of IDH mutations.


Assuntos
Neoplasias Encefálicas/genética , Glioblastoma/genética , Isocitrato Desidrogenase/genética , Mutação/genética , RNA Longo não Codificante/genética , Adulto , Idoso , Biomarcadores Tumorais/metabolismo , Neoplasias Encefálicas/metabolismo , Feminino , Glioblastoma/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , RNA Longo não Codificante/metabolismo , RNA Mensageiro/metabolismo , Estudos Retrospectivos , Reação em Cadeia da Polimerase Via Transcriptase Reversa
19.
Tumori ; 105(6): NP63-NP66, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31462162

RESUMO

INTRODUCTION: Sclerosing adenosis is a form of adenosis characterized by lobulocentric architecture, glandular and stromal proliferation in which the stromal component compresses and distorts the glandular structures. Atypical epithelial proliferations such as atypical lobular hyperplasia, lobular carcinoma in situ, and ductal carcinoma in situ may accompany areas of sclerosing adenosis. We present a case of ductal carcinoma in situ and sclerosing adenosis with metastatic carcinoma on sentinel lymph node. CASE DESCRIPTION: A 40-year-old woman presented with a palpable mass in her left breast. Radiologic studies showed a lesion suggesting malignancy in the left breast and atypical lymph node in the left axillary region. Left lumpectomy and sentinel lymph node biopsy was performed. Histopathologic examination revealed lobulocentric lesions with glandular proliferation and hyalinizing stroma in between. Foci of high-grade cribriform and solid type ductal carcinoma in situ were observed. Sentinel lymph node biopsy showed micrometastasis in one lymph node section. Based on these findings, the patient was diagnosed with high-grade ductal carcinoma in situ with sclerosing adenosis. However, the presence of micrometastasis in the lymph node suggested occult invasion that we were not able to detect. CONCLUSION: Ductal carcinoma in situ with sclerosing adenosis can mimic invasive carcinoma both radiologically and histologically. It should be kept in mind that there may be occult invasive carcinoma in patients with ductal carcinoma in situ whether the lesion is accompanied by sclerosing adenosis or not. Multiple sections and immunohistochemical studies can be of help.


Assuntos
Carcinoma Intraductal não Infiltrante/diagnóstico , Doença da Mama Fibrocística/diagnóstico , Linfonodo Sentinela/patologia , Adulto , Biópsia , Carcinoma Intraductal não Infiltrante/terapia , Terapia Combinada , Feminino , Doença da Mama Fibrocística/terapia , Humanos , Imuno-Histoquímica , Metástase Linfática , Imageamento por Ressonância Magnética , Biópsia de Linfonodo Sentinela
20.
World Neurosurg ; 128: e195-e208, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31003026

RESUMO

OBJECTIVE: We aimed to evaluate the usefulness of dynamic contrast-enhanced T1-weighted perfusion magnetic resonance imaging (DCE-pMRI) to predict certain immunohistochemical (IHC) biomarkers of glioblastoma (GB) in this pilot study. METHODS: We retrospectively reviewed 36 patients (male/female, 25:11; mean age, 53 years; age range, 29-85 years) who had pretreatment DCE-pMRI with IHC analysis of their excised GBs. Regions of interest of the enhancing tumor (ER) and nonenhancing peritumoral region (NER) were used to calculate DCE-pMRI parameters of volume transfer constant, back flux constant, volume of the extravascular extracellular space, initial area under enhancement curve, and maximum slope. IHC biomarkers including Ki-67 labeling index, epidermal growth factor receptor (EGFR), oligodendrocyte transcription factor 2 (OLIG2), isocitrate dehydrogenase 1 (IDH1), and p53 mutation status were determined. The imaging metrics of GB with IHC markers were compared using the Kruskal-Wallis test and Spearman correlation analysis. RESULTS: Among 30 patients with available IDH1 status, 14 patients (46.6%) had IDH1 mutation. EGFR amplification was present in 24/36 (66.6%) patients. Mean Ki-67 labeling index was 29% (range, 1.5%-80%). p53 mutation was present in 20/36 GBs (55%), whereas OLIG2 expression was positive in 29/36 GBs (80.5%). Various DCE-pMRI parameters gathered from the ER and NER were significantly correlated with IDH1 mutation, EGFR amplification, and OLIG2 expression (P < 0.05). Ki-67 labeling index showed a strong positive correlation with initial area under enhancement curve (r = 0.619; P < 0.001). CONCLUSIONS: DCE-pMRI could determine surrogate IHC biomarkers in GB via tumoral and peritumoral approach, potential targets for individualized treatment protocols.


Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Glioblastoma/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/cirurgia , Meios de Contraste , Receptores ErbB/metabolismo , Feminino , Glioblastoma/genética , Glioblastoma/metabolismo , Glioblastoma/cirurgia , Humanos , Processamento de Imagem Assistida por Computador , Imuno-Histoquímica , Isocitrato Desidrogenase/genética , Isocitrato Desidrogenase/metabolismo , Antígeno Ki-67/metabolismo , Angiografia por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Fator de Transcrição 2 de Oligodendrócitos/metabolismo , Projetos Piloto , Estudos Retrospectivos , Proteína Supressora de Tumor p53/genética
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