A5005314301- Renal cell carcinoma treatment
- Cancer Genomics and Diagnostics
- Renal and related cancers
- Acute Myeloid Leukemia Research
- Chronic Myeloid Leukemia Treatments
- Sarcoma Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Cancer-related molecular mechanisms research
- Acute Lymphoblastic Leukemia research
- Metastasis and carcinoma case studies
- Mesenchymal stem cell research
- Protein Degradation and Inhibitors
- Epigenetics and DNA Methylation
- Prostate Cancer Diagnosis and Treatment
- Cancer-related gene regulation
- Cancer Treatment and Pharmacology
- RNA Interference and Gene Delivery
- Multiple Myeloma Research and Treatments
- Genetic factors in colorectal cancer
- Microtubule and mitosis dynamics
- Gastrointestinal disorders and treatments
- Gastrointestinal Tumor Research and Treatment
- HER2/EGFR in Cancer Research
- Soft tissue tumor case studies
- Prostate Cancer Treatment and Research
Instituto Português de Oncologia Francisco Gentil
2012-2024
IPO Porto
2016-2024
Centro Hospitalar Lisboa Norte
2023
Hospital de Santa Maria
2022
Universidade Federal do Rio de Janeiro
2020
Universidade do Porto
2013
The clinical significance of ERBB2 amplification/overexpression in gastric cancer remains unclear. In this study, we evaluated the status 463 carcinomas using immunohistochemistry (IHC) and fluorescence situ hybridisation (FISH), compared findings with histopathological characteristics disease-specific survival. overexpression (2+ 3+) amplification (ratio ERBB2/CEP17⩾2) were found 43 (9.3%) 38 (8.2%) carcinomas, respectively. Perfect IHC/FISH correlation was for 19 cases scored as 0 (all...
Disruption of the histone modification patterns is one most common features human tumors. However, few genetic alterations in modifier genes have been described tumorigenesis. Herein we show that methyltransferase SETDB1 undergoes gene amplification non-small and small lung cancer cell lines primary The existence additional copies these transformed cells associated with higher levels corresponding mRNA protein. From a functional standpoint, depletion expression amplified reduces growth...
Abstract The landscape of genetic alterations in lung adenocarcinoma derived from Asian patients is largely uncharacterized. Here we present an integrated genomic and transcriptomic analysis 335 primary adenocarcinomas 35 corresponding lymph node metastases Chinese patients. Altogether 13 significantly mutated genes are identified, including the most commonly gene TP53 novel mutation targets such as RHPN2 , GLI3 MRC2 . mutations furthermore enriched tumours harbouring metastases. Genes...
// Francisca Dias 1, 2, 3 , Ana Luísa Teixeira 2 Marta Ferreira 4 Bárbara Adem 5 Nuno Bastos Joana Vieira 6 Mara Fernandes Maria Inês Sequeira Joaquina Maurício Francisco Lobo 7 António Morais Jorge Oliveira Klaas Kok 8 and Rui Medeiros 5, 9 1 Molecular Oncology Viral Pathology Group, IPO-Porto Research Center (CI-IPOP), Portuguese Institute of Porto (IPO-Porto), Porto, Portugal Department, LPCC- League Against Cancer (NRNorte), ICBAS, Abel Salazar for the...
Gastric cancer remains a serious health concern worldwide. Patients would greatly benefit from the discovery of new biomarkers that predict outcome more accurately and allow better treatment follow-up decisions. Here, we used retrospective, observational study to assess expression prognostic value transcription factors SOX2 CDX2 in gastric cancer. SOX2, CDX2, MUC5AC MUC2 were assessed 201 tumors by immunohistochemistry. crossed with clinicopathological data determine their impact on tumor...
A defective mitotic checkpoint has been proposed to contribute chromosomal instability (CIN). We have previously shown that expression changes of the arrest deficiency (MAD) gene family plays a role in renal cell cancer (RCC) characterized by numerical changes, namely papillary and chromophobe carcinomas, but nothing is known about genes clear histotype (ccRCC).We analyzed mRNA levels major budding uninhibited benzimidazole (BUB1, BUBR1, BUB3) MAD (MAD1, MAD2L1, MAD2L2) real-time...
Abstract The association of a genetic analysis that could improve the diagnostic accuracy renal cell tumors in biopsy samples would allow better‐informed therapeutic decisions. We performed comparative genomic hybridization (CGH) on an ex vivo fine‐needle aspiration (FNA) and tumor fragment obtained from 75 patients consecutively diagnosed with subjected to radical nephrectomy. pattern changes by CGH was used blindly classify findings were subsequently compared histopathologic diagnosis. In...
The rare reports of primary, nonneuroendocrine small cell carcinomas the thyroid have not provided enough evidence to support recognition these tumors as an entity or understand their etiopathogenesis. We report second case a carcinoma displaying diffuse expression cytokeratins, CD99, and p63, in absence vimentin expression, 24-year-old male who is alive without any signs disease 13 years after total thyroidectomy radioactive iodine. tumor disclosed EWSR1-FLI1 rearrangement, we propose...
Prostate carcinomas harboring 8q gains are associated with poor clinical outcome, but the target genes of this genomic alteration remain to be unveiled. In study, we aimed identify potential clinically aggressive prostate cancer (PCa) using fluorescence in situ hybridization (FISH), genome‐wide mRNA expression, and protein expression analyses. Using FISH, first characterized relative copy number (assessed MYC flanking probes) a series 50 radical prostatectomy specimens, available global gene...
Oncogenic point mutations in KIT or PDGFRA are recognized as the primary events responsible for pathogenesis of most gastrointestinal stromal tumors (GIST), but additional genomic alterations frequent and presumably required tumor progression. The relative contribution such biology clinical behavior GIST, however, remains elusive.In present study, somatic were evaluated by direct sequencing analysis a consecutive series 80 GIST patients. For subset 29 tumors, comparative hybridization was...
Abstract Acute megakaryoblastic leukemia (AMKL) with t(1;22)(p13;q13) is a subset of acute myeloid (AML) representing <1% all cases and about 70% pediatric AMKL in the first year life. We present case 7‐month‐old female whom bone marrow karyotype showed derivative chromosome der(22)t(1;22)(p13;q13). The RBM15–MKL1 fusion transcript was detected by RT‐PCR confirmed sequencing analyses. FISH analyses revealed presence four‐way translocation t(1;22;17;18)(p13;q13;q22;q12). Pediatr Blood...
Abstract Expression of PAX 2 (Paired‐box 2) is suppressed through promoter methylation at the later stages embryonic development, but eventually reactivated during carcinogenesis. Pax‐2 commonly expressed in most prevalent renal cell tumour ( RCT ) subtypes—clear RCC (cc ), papillary pRCC and oncocytoma—but not chromophobe (chr which frequently displays chromosome 10 loss (to mapped). Herein, we assessed epigenetic and/or genetic alterations affecting expression s evaluated its potential as...
Abstract Background NUP98 gene rearrangements have been reported in acute myeloid leukemia, giving rise to fusion proteins that seem function as aberrant transcription factors, and are thought be associated with poor prognosis. Findings A patient treatment-related leukemia presented a t(3;11)(p11;p15) the only cytogenetic abnormality. FISH molecular genetic analyses identified class 1 homeobox gene, POU1F1 , located on chromosome 3p11, partner of . In addition, we found harbored an FLT3-ITD...
Most patients with chronic myeloid leukemia (CML) treated tyrosine kinase inhibitors (TKIs) will relapse if treatment is withdrawn, but various trials have recently demonstrated that a significant proportion of who achieved stable and deep molecular response (DMR) can stop therapy without relapsing. However, most information on cessation was obtained from clinical strict recruiting criteria.We evaluated the outcome 25 CML discontinued TKI in our institute real-world practice.Of patients, 76%...
Desmoplastic small round cell tumor (DSRCT) is a distinctive clinicopathologic entity with an aggressive clinical course that typically involves the abdominal and/or pelvic peritoneum of young males. A population blue cells and fibroesclerotic stroma are usual morphologic features. This characterized by typical polyphenotypic profile expression epithelial, mesenchymal neural markers. Cytogenetically, this presents unique abnormality - t(11;22)(p13;q12).A 29-year-old male without significant...
Abstract Background Prostate cancer (PrCa) is the most frequently diagnosed in men. Variants known moderate- to high-penetrance genes explain less than 5% of cases arising at early-onset (< 56 years) and/or with familial aggregation disease. Considering that BubR1 an essential component mitotic spindle assembly checkpoint, we hypothesized monoallelic BUB1B variants could be sufficient fuel chromosomal instability (CIN), potentially triggering (prostate) carcinogenesis. Methods To unveil...
Abstract Hereditary gastrointestinal stromal tumor (GIST) syndrome is a rare autosomal dominant genetic disorder originated by germline mutations in the KIT or PDGFRA genes. We report third family with hereditary predisposition to GIST due Exon 17 mutation p.Asp820Tyr and characterize cytogenetic progression pathways followed different sharing same primary event, using combination of chromosome banding, comparative genomic hybridization (CGH), fluorescence situ (FISH) analyses. The missense...
The distinction between primary melanoma and metastatic to the skin has major prognostic implications. We report a case of 67-year-old male with diagnosis superficial spreading (stage IB) rendered 6 years earlier who presented clinically an atypical nevus on his left thigh. Histopathological examination showed intraepidermal melanocytic proliferation that was interpreted as in situ. Subsequently, 45 additional pigmented macules appeared crops over 9-month period. Clinically dermoscopically,...