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- Tender red subcutaneous nodules in an adult female: a challenging diagnosisPublication . Costa, JM; Costa, RS; Carvalho, SDPancreatic panniculitis is an uncommon and rare skin complication of systemic fat necrosis associated with pancreatitis post-ampullectomy. Besides the rarity of the condition, the clinical history and physical examination for diagnosis is also important.
- Pseudomyogenic hemangioendothelioma: a little-known tumorPublication . Santos, RP; Carvalho, S; Joana, G; Perdal, JPseudomyogenic hemangioendothelioma (PHE) is a rare indolent vascular tumor that typically has a multifocal presentation and involves multiple tissue planes. This report describes a 34-year-old man with multiple infiltrated brown papules and plaques on his left leg that had evolved for 6 months. The skin biopsy revealed a dermal and subcutaneous neoplasm composed of fascicles of spindle cells with atypia and epithelioid cells with prominent nucleoli and abundant eosinophilic cytoplasm. There was no evidence of necrosis, and the mitotic rate was low. There was strong reactivity with cytokeratin AE1/AE3, ERG, and FLI1, multifocal reactivity with smooth muscle actin, and focal reactivity with CD31. There was no expression of keratin MNF116, CAM5.2, CD34, CAMTA1, S100-protein, epithelial membrane antigen, melan-A, HMB-45, factor XIIIa, HHV8, or CD10. The nuclei of neoplastic cells showed intact expression of INI1. The clinical, histological, and immunophenotypical aspects were consistent with a diagnosis of PHE. A lower limb CT scan showed lesions in the skin, muscle, and bone planes. The patient was sent to an oncology center, where he maintains regular clinical and imagiological follow-up.
- Generalized bullous fixed drug eruption due to ibuprofenPublication . Almeida, FT; Caldas, R; Oliveira, ÁA; Pardal, J; Pereira, T; Brito, CIbuprofen can cause a wide variety of cutaneous reactions with a relatively high frequency, but establishing the causal relationship is usually difficult [1]. We report a case of a skin drug reaction due to ibuprofen, confirmed by positive patch test results.
- WNT6 is a novel oncogenic prognostic biomarker in human glioblastomaPublication . Gonçalves, CS; Vieira de Castro, J; Pojo, M; Martins, EP; Queirós, S; Chautard, E; Taipa, R; Pires, MM; Pinto, AA; Pardal, F; Custódia, C; Faria, CC; Clara, C; Reis, RM; Sousa, N; Costa, BMGlioblastoma (GBM) is a universally fatal brain cancer, for which novel therapies targeting specific underlying oncogenic events are urgently needed. While the WNT pathway has been shown to be frequently activated in GBM, constituting a potential therapeutic target, the relevance of WNT6, an activator of this pathway, remains unknown. Methods: WNT6 protein and mRNA levels were evaluated in GBM. WNT6 levels were silenced or overexpressed in GBM cells to assess functional effects in vitro and in vivo. Phospho-kinase arrays and TCF/LEF reporter assays were used to identify WNT6-signaling pathways, and significant associations with stem cell features and cancer-related pathways were validated in patients. Survival analyses were performed with Cox regression and Log-rank tests. Meta-analyses were used to calculate the estimated pooled effect. Results: We show that WNT6 is significantly overexpressed in GBMs, as compared to lower-grade gliomas and normal brain, at mRNA and protein levels. Functionally, WNT6 increases typical oncogenic activities in GBM cells, including viability, proliferation, glioma stem cell capacity, invasion, migration, and resistance to temozolomide chemotherapy. Concordantly, in in vivo orthotopic GBM mice models, using both overexpressing and silencing models, WNT6 expression was associated with shorter overall survival, and increased features of tumor aggressiveness. Mechanistically, WNT6 contributes to activate typical oncogenic pathways, including Src and STAT, which intertwined with the WNT pathway may be critical effectors of WNT6-associated aggressiveness in GBM. Clinically, we establish WNT6 as an independent prognostic biomarker of shorter survival in GBM patients from several independent cohorts. Conclusion: Our findings establish WNT6 as a novel oncogene in GBM, opening opportunities to develop more rational therapies to treat this highly aggressive tumor.
- Primary cutaneous leiomyosarcoma of the facePublication . Pereira, TM; Brito, c; Sousa-Basto, A; Pardal, F
- Reed's SyndromePublication . Almeida, FT; Santos, R P; Carvalho, SD; Brito, CMultiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of MCUL with renal cell carcinoma. We report a case of a 57-year-old woman, with multiple cutaneous leiomyomas as the presenting sign of Reed's syndrome.
- Pitiríase Rubra Pilar em Doente de Raça NegraPublication . Pereira, TM; Duarte, ML; Vieira, AP; Sousa-Basto, A; Pardal, F
- Generation of an integration-free induced pluripotent stem cell line (CSC-43) from a patient with sporadic Parkinson's diseasePublication . Marote, A; Pomeshchik, Y; Goldwurm, S; Collin, A; Lamas, NJ; Pinto, L; Salgado, AJ; Roybon, LAn induced pluripotent stem cell (iPSC) line was generated from a 36-year-old patient with sporadic Parkinson's disease (PD). Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line (CSC-43) exhibits expression of common pluripotency markers, in vitro differentiation into three germ layers and normal karyotype. This iPSC line can be used to study the mechanisms underlying the development of PD.
- Synchronous intraductal papillary mucinous neoplasm and a pancreatic neuroendocrine tumor: more than a coincidence?Publication . Costa, JM; Carvalho, SB; Soares, JBBACKGROUND: Although the association between intraductal papillary mucinous neoplasm of the pancreas (IPMN) and pancreatic neuroendocrine tumor (PNET) has been increasingly reported, whether this association is real or coincidence remains unclear. We report a case of synchronous IPMN and a PNET which were diagnosed preoperatively and discuss the tumorigenesis, clinicopathological features and management of these rare tumors based on the published literature. CASE REPORT: A 56-year-old male was incidentally diagnosed with a 14 mm branch duct IPMN and a 3.6 mm non-functional PNET during an evaluation due to persistent upper abdominal pain via endoscopic ultrasound. Close follow-up of the patient was decided as the IPMN had no worrisome features. A review of twenty-two previously reported cases of synchronous IPMN and PNET indicated that: a) only seven cases were diagnosed preoperatively; b) abdominal pain was the main presenting symptom; c) IPMN was the dominant tumor and presented with low grade dysplasia; d) the PNET was small and non-functional and had an indolent behavior; and e) only one case underwent radiologic follow-up. DISCUSSION: IPMN are associated with other pancreatic and extrapancreatic malignancies. Thus, the entire pancreatic parenchyma should be examined closely during the evaluation of an IPMN in order to exclude other pancreatic lesions, for example, a PNET.
- NUT midline carcinoma of the larynx: an international series and review of the literaturePublication . Hellquist, H; French, CA; Bishop, JA; Coca-Pelaz, A; Propst, EJ; Paiva Correia, A; Ngan, BY; Grant, R; Cipriani, NA; Vokes, D; Henrique, R; Pardal, F; Vizcaino, JR; Rinaldo, A; Ferlito, AAIMS: NUT midline carcinoma (NMC) is a rare undifferentiated and aggressive carcinoma that locates characteristically to the midline of the head and neck, and mediastinum. NMC is characterized by chromosomal rearrangements of the gene NUT, at 15q14. The BRD4 gene on 19q13 is the most common translocation partner forming a fusion oncogene, BRD4-NUT. By the end of 2014, the International NUT Midline Carcinoma Registry had 48 patients treated for NMC. Laryngeal NMC are exceedingly rare, and we report a case series of seven cases. METHODS AND RESULTS: We searched for cases in files of different hospitals as well as a thorough search of the English language literature. The diagnosis of NMC is made by demonstration of NUT rearrangement either by immunohistochemistry, fluorescence in-situ hybridization (FISH) or reverse transcription-polymerase chain reaction (RT-PCR). We found three previously published cases, and in this series add four cases of our own. CONCLUSIONS: NMC consists of monomorphic, often discohesive, cells with an epithelioid appearance and distinct nucleoli. The tumours typically show abrupt squamous differentiation. The mean age of the patients was 34 years, hence significantly lower than that for conventional laryngeal carcinoma. All tumours were located in the supraglottis and five patients died of the disease after 3, 7, 8, 9 and 11 months. Laryngeal NMC may be underdiagnosed, and an increased awareness among pathologists is warranted. NMC has characteristic morphological features, and positive immunostaining with the NUT antibody is diagnostic. Its aggressive behaviour demands a very intense treatment strategy and the need for its recognition is emphasized further by new promising treatment strategies.