Metastatic pituitary neuroendocrine neoplasms: A case report of a malignant prolactinoma.

We report a rare clinical case of a malignant prolactinoma in which the exponential increase of prolactin levels with minimal tumor growth and no response to treatment led to diagnosis of abdominal, thoracic, and vertebral metastases.

Pituitary metastasis as the first manifestation of lung carcinoma.

Pituitary metastases are rare. Clinical presentation could range from asymptomatic to panhypopituitarism or local symptoms. We present a case report of a 43-year-old male patient with a new onset headache, visual disturbances, and panhypopituitarism. The investigation led to the diagnosis of pituitary metastasis as the first manifestation of underlying lung cancer.

PIK3CA Mutations in Diffuse Gliomas: An Update on Molecular Stratification, Prognosis, Recurrence, and Aggressiveness.

INTRODUCTION: PIK3CA is one of the most mutated oncogenes in solid tumors. In breast cancer (ER-positive, HER2-negative), these events represent a predictive biomarker of response to alpelisib. In glioblastomas (GBM), PIK3CA mutations were described as early constitutive events. Here, we investigated PIK3CA mutational profile across glioma molecular subgroups and its relevance during glioma recurrence. Furthermore, PIK3CA mutations' effect in PI3K pathway, prognosis, and response to therapy was also explored. MATERIAL AND METHODS: Exons 10 and 21 of PIK3CA mutations were evaluated in 394 gliomas and 19 glioma recurrences from Instituto Português de Oncologia Lisboa Francisco Gentil (IPOLFG) and compared with The Cancer Genome Atlas (TCGA) data. TIMER2.0 and NetMHCpan4.1 were used to assess the immune-microenvironment contribution. RESULTS: PIK3CA mutations were identified among all glioma subgroups, although with no impact on their stratification or prognosis. In both cohorts (IPOLFG and TCGA), PIK3CA mutation frequencies in IDH-mutant and IDH-wild-type GBM were similar (IPOLFG: 9% and 3%; TCGA: 8% and 2%). These mutations were not mutually exclusive with PTEN deletion and EGFR amplification. Despite their reduced frequency, we discovered PIK3CA mutations were maintained during glioma recurrence regardless of administered therapies. The immune microenvironment might not contribute to this phenotype as PIK3CA mutations did not influence immune cell infiltration. CONCLUSIONS: Despite the absence of a predominant effect in glioma stratification, PIK3CA mutations were maintained during glioma recurrence, possibly contributing to glioma cell survival, representing promising therapeutic targets in recurrent glioma. Nevertheless, understanding the potential synergistic effects between PIK3CA mutations, PTEN deletion, and EGFR amplification is pivotal to targeted therapies' efficiency.

Intracranial mesenchymal tumors with FET-CREB fusion are composed of at least two epigenetic subgroups distinct from meningioma and extracranial sarcomas.

'Intracranial mesenchymal tumor, FET-CREB fusion-positive' occurs primarily in children and young adults and has previously been termed intracranial angiomatoid fibrous histiocytoma (AFH) or intracranial myxoid mesenchymal tumor (IMMT). Here we performed genome-wide DNA methylation array profiling of 20 primary intracranial mesenchymal tumors with FET-CREB fusion to further study their ontology. These tumors resolved into two distinct epigenetic subgroups that were both divergent from all other analyzed intracranial neoplasms and soft tissue sarcomas, including meningioma, clear cell sarcoma of soft tissue (CCS), and AFH of extracranial soft tissue. The first subgroup (Group A, 16 tumors) clustered nearest to but independent of solitary fibrous tumor and AFH of extracranial soft tissue, whereas the second epigenetic subgroup (Group B, 4 tumors) clustered nearest to but independent of CCS and also lacked expression of melanocytic markers (HMB45, Melan A, or MITF) characteristic of CCS. Group A tumors most often occurred in adolescence or early adulthood, arose throughout the neuroaxis, and contained mostly EWSR1-ATF1 and EWSR1-CREB1 fusions. Group B tumors arose most often in early childhood, were located along the cerebral convexities or spinal cord, and demonstrated an enrichment for tumors with CREM as the fusion partner (either EWSR1-CREM or FUS-CREM). Group A tumors more often demonstrated stellate/spindle cell morphology and hemangioma-like vasculature, whereas Group B tumors more often demonstrated round cell or epithelioid/rhabdoid morphology without hemangioma-like vasculature, although robust comparison of these clinical and histologic features requires future study. Patients with Group B tumors had inferior progression-free survival relative to Group A tumors (median 4.5 vs. 49 months, p = 0.001). Together, these findings confirm that intracranial AFH-like neoplasms and IMMT represent histologic variants of a single tumor type ('intracranial mesenchymal tumor, FET-CREB fusion-positive') that is distinct from meningioma and extracranial sarcomas. Additionally, epigenomic evaluation may provide important prognostic subtyping for this unique tumor entity.

Intracranial mesenchymal tumor with FET-CREB fusion-A unifying diagnosis for the spectrum of intracranial myxoid mesenchymal tumors and angiomatoid fibrous histiocytoma-like neoplasms.

Intracranial mesenchymal tumors with FET-CREB fusions are a recently described group of neoplasms in children and young adults characterized by fusion of a FET family gene (usually EWSR1, but rarely FUS) to a CREB family transcription factor (ATF1, CREB1, or CREM), and have been variously termed intracranial angiomatoid fibrous histiocytoma or intracranial myxoid mesenchymal tumor. The clinical outcomes, histologic features, and genomic landscape are not well defined. Here, we studied 20 patients with intracranial mesenchymal tumors proven to harbor FET-CREB fusion by next-generation sequencing (NGS). The 16 female and four male patients had a median age of 14 years (range 4-70). Tumors were uniformly extra-axial or intraventricular and located at the cerebral convexities (n = 7), falx (2), lateral ventricles (4), tentorium (2), cerebellopontine angle (4), and spinal cord (1). NGS demonstrated that eight tumors harbored EWSR1-ATF1 fusion, seven had EWSR1-CREB1, four had EWSR1-CREM, and one had FUS-CREM. Tumors were uniformly well circumscribed and typically contrast enhancing with solid and cystic growth. Tumors with EWSR1-CREB1 fusions more often featured stellate/spindle cell morphology, mucin-rich stroma, and hemangioma-like vasculature compared to tumors with EWSR1-ATF1 fusions that most often featured sheets of epithelioid cells with mucin-poor collagenous stroma. These tumors demonstrated polyphenotypic immunoprofiles with frequent positivity for desmin, EMA, CD99, MUC4, and synaptophysin, but absence of SSTR2A, myogenin, and HMB45 expression. There was a propensity for local recurrence with a median progression-free survival of 12 months and a median overall survival of greater than 60 months, with three patients succumbing to disease (all with EWSR1-ATF1 fusions). In combination with prior case series, this study provides further insight into intracranial mesenchymal tumors with FET-CREB fusion, which represent a distinct group of CNS tumors encompassing both intracranial myxoid mesenchymal tumor and angiomatoid fibrous histiocytoma-like neoplasms.

Hydrocephalus in children - A rare case of pineal cavernoma and literature review.

BACKGROUND: Cavernous malformations prevalence ranges from 0.4 to 0.6% and accounts for 5-15% of all central nervous system vascular malformations. Pineal cavernomas constitute <1% of all locations published in the literature, with a total of 26 cases reported, only 5 regarding the pediatric population until 2020. Overall annual hemorrhage rate is 2.4%. Symptoms are often due to hydrocephalus and intracranial hypertension. CASE DESCRIPTION: We report a case of a 5-year-old child with visual disturbances, headache, and progressive neurologic deterioration. MR showed a lesion in the pineal region and triventricular hydrocephalus. She was submitted to endoscopic third ventriculostomy and total excision of the lesion by the infratentorial supracerebellar approach a few days later. Histopathological examination confirmed a pineal cavernous malformation. The patient returned to her normal life without any neurologic deficit and a normal development. CONCLUSION: The ideal treatment is primary lesion removal; however, due to the infrequency and because it is a curable lesion, studies seeking to deepen the knowledge of this disease are considered relevant.

Clinicopathologic and molecular features of intracranial desmoplastic small round cell tumors.

Desmoplastic small round cell tumors (DSRCTs) are highly aggressive sarcomas that most commonly occur intra-abdominally, and are defined by EWSR1-WT1 gene fusion. Intracranial DSRCTs are exceptionally rare with only seven previously reported fusion-positive cases. Herein, we evaluate the clinical, morphologic, immunohistochemical and molecular features of five additional examples. All patients were male (age range 6-25 years; median 11 years), with four tumors located supratentorially and one within the posterior fossa. The histologic features were highly variable including small cell, embryonal, clear cell, rhabdoid, anaplastic and glioma-like appearances. A prominent desmoplastic stroma was seen in only two cases. The mitotic index ranged from <1 to 12/10 HPF (median 5). While all tumors showed strong desmin positivity, epithelial markers such as EMA, CAM 5.2 and other keratins were strongly positive in only one, focally positive in two and negative in two cases. EWSR1-WT1 gene fusion was present in all cases, with accompanying mutations in the TERT promoter or STAG2 gene in individual cases. Given the significant histologic diversity, in the absence of genetic evaluation these cases could easily be misinterpreted as other entities. Desmin immunostaining is a useful initial screening method for consideration of a DSRCT diagnosis, prompting confirmatory molecular testing. Demonstrating the presence of an EWSR1-WT1 fusion provides a definitive diagnosis of DSRCT. Genome-wide methylation profiles of intracranial DSRCTs matched those of extracranial DSRCTs. Thus, despite the occasionally unusual histologic features and immunoprofile, intracranial DSRCTs likely represent a similar, if not the same, entity as their soft tissue counterpart based on the shared fusion and methylation profiles.

Clinical insights gained by refining the 2016 WHO classification of diffuse gliomas with: EGFR amplification, TERT mutations, PTEN deletion and MGMT methylation.

BACKGROUND: Significant advances in the molecular profiling of gliomas, led the 2016 World Health Organization (WHO) Classification to include, for the first-time, molecular biomarkers in glioma diagnosis: IDH mutations and 1p/19q codeletion. Here, we evaluated the effect of this new classification in the stratification of gliomas previously diagnosed according to 2007 WHO classification. Then, we also analyzed the impact of TERT promoter mutations, PTEN deletion, EGFR amplification and MGMT promoter methylation in diagnosis, prognosis and response to therapy in glioma molecular subgroup. METHODS: A cohort of 444 adult gliomas was analyzed and reclassified according to the 2016 WHO. Mutational analysis of IDH1 and TERT promoter mutations was performed by Sanger sequencing. Statistical analysis was done using SPSS Statistics 21.0. RESULTS: The reclassification of this cohort using 2016 WHO criteria led to a decrease of the number of oligodendrogliomas (from 82 to 49) and an increase of astrocytomas (from 49 to 98), while glioblastomas (GBM) remained the same (n = 256). GBM was the most common diagnosis (57.7%), of which 55.2% were IDH-wildtype. 1p/19q codeleted gliomas were the subgroup associated with longer median overall survival (198 months), while GBM IDH-wildtype had the worst outcome (10 months). Interestingly, PTEN deletion had poor prognostic value in astrocytomas IDH-wildtype (p = 0.015), while in GBM IDH-wildtype was associated with better overall survival (p = 0.042) as well as MGMT promoter methylation (p = 0.009). EGFR amplification and TERT mutations had no impact in prognosis. Notably, EGFR amplification predicted a better response to radiotherapy (p = 0.011) and MGMT methylation to chemo-radiotherapy (p = 0.003). CONCLUSION: In this study we observed that the 2016 WHO classification improved the accuracy of diagnosis and prognosis of diffuse gliomas, although the available biomarkers are not enough. Therefore, we suggest MGMT promoter methylation should be added to glioma classification. Moreover, we found two genetic/clinical correlations that must be evaluated to understand their impact in the clinical setting: i) how is PTEN deletion a favorable prognostic factor in GBM IDH wildtype and an unfavorable prognostic factor in astrocytoma IDH wildtype and ii) how EGFR amplification is an independent and strong factor of response to radiotherapy.

Behçet Syndrome and Crohn's Disease: What Are the Differences?

Behçet syndrome (BS) is a variable vessel vasculitis that has pleiotropic manifestations. A 43-year-old male with a previous diagnosis of Crohn's disease (CD) presented with deep venous thrombosis and bilateral superficial femoral artery aneurysms. A diagnosis of BS was made, and the patient was treated aggressively with immunosuppressive therapy and bilateral bypass surgery, attaining a favourable outcome. CD has many features that overlap with BS, and it may be challenging to distinguish between these two conditions, as our case illustrates. Nonetheless, the combination of venous thrombosis and arterial aneurysms should point the clinician towards a diagnosis of BS. LEARNING POINTS: Behçet syndrome is a variable vessel vasculitis of unknown aetiology that has pleiotropic manifestations.Crohn's disease has many overlapping features with Behçet syndrome, namely gastrointestinal, cutaneous, articular, ocular and cardiac manifestations.The combination of venous thrombosis and arterial aneurysms should point the clinician towards a diagnosis of Behçet syndrome.

BRAF V600E mutation and 9p21: CDKN2A/B and MTAP co-deletions - Markers in the clinical stratification of pediatric gliomas.

BACKGROUND: Genetic alterations in pediatric primary brain tumors can be used as diagnostic and prognostic markers and are the basis for the development of new target therapies that, ideally, would be associated with lower mortality and morbidity. This study evaluates the incidence and interplay of the presence of BRAF V600E mutation and chromosomal 9p21 deletions in a series of 100 pediatric gliomas, aiming to determine the role of these alterations in recurrence and malignant transformation, and to verify if they could be used in the clinical set for stratifying patients for tailored therapies and surveillance. METHODS: Sanger sequencing was used for the assessment of BRAF mutations at exon 15 and Fluorescent In Situ Hybridization (FISH) with BAC: RP11-14192 for the detection of 9p21 alterations. Expression levels of the CDKN2A and MTAP by real-time PCR were evaluated in cases with 9p21 deletions. Statistical analysis of genetic and clinical data was performed using Graph Pad Prism 5 and SPSS Statistics 24 software. RESULTS: In our cohort it was observed that 7 /78 (8,9%) of the low-grade tumors recurred and 2 (2,6%) showed malignant transformation. BRAF V600E mutations were detected in 15 cases. No statistically significant correlations were found between the presence of BRAF V600E mutation and patient's morphologic or clinical features. Deletions at 9p21 abrogating the CDKN2A/B and MTAP loci were rare in grade I gliomas (12.2%, p = 0.0178) but frequent in grade IV gliomas (62.5%, p = 0.0087). Moreover it was found that deletions at these loci were correlated with a shorter overall survival (p = 0.011) and a shorter progression-free survival (p = 0.016). CONCLUSIONS: It was demonstrated that in these tumors BRAF V600E mutated and that CDKN2A/B MTAP co-deletions may be used for stratifying patients for a stricter surveillance. The Investigating and defining if glial tumors with CDKN2A/B and MTAP homozygous loss may be vulnerable to new forms of therapy, namely those affecting the methionine salvage pathway, was proven to be of importance.

Simultaneous Supratentorial and Infratentorial Pilocytic Astrocytomas in an Adult Patient with Concurrent Neurofibromatosis Type 1 and HIV Infection.

BACKGROUND: Neurofibromatosis type 1 (NF1) has been identified as a predisposing factor in the development of pilocytic astrocytoma (PA), a common benign central nervous system tumor. Although this is a common association, simultaneous development of multiple lesions is an infrequent finding, especially in nonoptic and hypothalamic locations. CASE DESCRIPTION: A 41-year-old female patient with NF1 and uncontrolled human immunodeficiency virus (HIV) type 1 infection presented with a first generalized seizure and associated headache and ataxia. Imaging studies revealed 2 large intra-axial PAs, nodular-cystic in the supratentorial compartment and solid in the infratentorial compartment. Both lesions were treated by gross total resection in 2 surgeries performed 1 week apart. Despite their different imaging patterns, the tumors were histologically and genetically identical. CONCLUSIONS: We present a unique case involving 2 histologically and genetically identical PAs occurring simultaneously in supratentorial and infratentorial locations. We suggest that an intrinsic predisposition to tumor development in patients with NF1 might have been enhanced by the HIV-related immunosuppression in this case. Strict oncologic surveillance is essential in patients with a tumor predisposition syndrome combined with immunosuppression.

Nasal Lobular Capillary Hemangioma as a Complication after an Endoscopic Transsphenoidal Gonadotrophin-Producing Pituitary Adenoma Resection.

Background Lobular capillary hemangioma is a rare benign tumor, most frequently located in the head or neck region, the nasal cavity being uncommonly affected. Its etiopathogenesis is not fully established, although traumatic and hormonal factors have been implied. Case Description A 50-year-old female patient underwent an uneventful endoscopic transsphenoidal removal of a pituitary cystic macroadenoma at our institution. Nasal packing was used in postoperative hemostasis. Histopathology was compatible with a gonadotrophin-producing adenoma. One month after the surgery, the patient presented with frequent episodes of epistaxis and a progressively growing nasal mass, which was removed endoscopically. Its pathological examination confirmed a lobular capillary hemangioma. Conclusions The authors present a clinical case combining two possible predisposing factors to the development of a nasal lobular capillary hemangioma: local traumatic injury through surgery and postoperative nasal packing and hormonal influence. This lesion is a rare complication of endoscopic transsphenoidal resections of pituitary adenomas.

Right cardiac intracavitary metastases from a primary intracranial myxofibrosarcoma.

Primary intracranial myxofibrosarcoma is exceedingly rare, with less than 10 cases published. We present a case of a 23-year-old man with previous history of a primary low grade myxofibrosarcoma of the left parietal-occipital convexity resected in March 1999. He subsequently underwent several interventions for multiple local recurrent disease until March 2004. At that time, complete remission was documented. About 8 years later, in February 2012, the patient was admitted to the emergency room with refractory acute pulmonary oedema. On work up, sustained monomorphic ventricular tachycardia and hyperechoic myocardial mass with invasion of the right ventricular cavity were detected. Electrical cardioversion was unsuccessful and irreversible cardiac arrest followed. The autopsy confirmed multiple bilateral lung metastases, malignant pulmonary embolism and myocardial invasion by the primary tumour, with intracavitary cardiac thrombosis and absence of intracranial disease. To the best of our knowledge, this is the first report of extracranial metastases of this neoplasm.

IgG4-related Hashimoto's thyroiditis--a new variant of a well known disease.

Hashimoto's thyroiditis (HT) has been characterized for many years as a well-defined clinicopathologic entity, but is now considered a heterogeneous disease. IgG4-related HT is a new subtype characterized by thyroid inflammation rich in IgG4-positive plasma cells and marked fibrosis. It may be part of the systemic IgG4-related disease. We report a case of a 56-year-old Portuguese man who presented with a one-month history of progressive neck swelling and dysphagia. Laboratory testing revealed increased inflammatory parameters, subclinical hypothyroidism and very high levels of thyroid autoantibodies. Cervical ultrasound (US) demonstrated an enlarged and heterogeneous thyroid gland and two hypoechoic nodules. US-guided fine needle aspiration cytology was consistent with lymphocytic thyroiditis. The patient was submitted to total thyroidectomy and microscopic examination identified typical findings of HT, marked fibrosis limited within the thyroid capsule and lymphoplasmacytic infiltration, with >50 IgG4-positive plasma cells per high-power field and an IgG4/IgG ratio of >40%. After surgery, serum IgG4 concentration was high-normal. Symptoms relief and reduction in laboratory inflammatory parameters were noticed. Thyroid function is controlled with levothyroxine. To our knowledge we report the first case of IgG4-related HT in a non-Asian patient. We also perform a review of the literature regarding IgG4-related disease and IgG4-related HT. Our case highlights this new variant of the well known HT, and helps physicians in recognizing its main clinical features, allowing for proper diagnosis and treatment.

IgG4-related Hashimoto’s thyroiditis – A new variant of a well known disease / Tireoidite de Hashimoto associada a IgG4 – Uma nova variante de uma doença bem conhecida

Hashimoto’s thyroiditis (HT) has been characterized for many years as a well-defined clinicopathologic entity, but is now considered a heterogeneous disease. IgG4-related HT is a new subtype characterized by thyroid inflammation rich in IgG4-positive plasma cells and marked fibrosis. It may be part of the systemic IgG4-related disease. We report a case of a 56-year-old Portuguese man who presented with a one-month history of progressive neck swelling and dysphagia. Laboratory testing revealed increased inflammatory parameters, subclinical hypothyroidism and very high levels of thyroid autoantibodies. Cervical ultrasound (US) demonstrated an enlarged and heterogeneous thyroid gland and two hypoechoic nodules. US-guided fine needle aspiration cytology was consistent with lymphocytic thyroiditis. The patient was submitted to total thyroidectomy and microscopic examination identified typical findings of HT, marked fibrosis limited within the thyroid capsule and lymphoplasmacytic infiltration, with >50 IgG4-positive plasma cells per high-power field and an IgG4/IgG ratio of >40%. After surgery, serum IgG4 concentration was high-normal. Symptoms relief and reduction in laboratory inflammatory parameters were noticed. Thyroid function is controlled with levothyroxine. To our knowledge we report the first case of IgG4-related HT in a non-Asian patient. We also perform a review of the literature regarding IgG4-related disease and IgG4-related HT. Our case highlights this new variant of the well known HT, and helps physicians in recognizing its main clinical features, allowing for proper diagnosis and treatment.

A tireoidite de Hashimoto (TH) foi caracterizada durante muitos anos como uma entidade clinicopatológica bem definida, mas é atualmente considerada uma patologia heterogênea. A TH associada a IgG4 apresenta-se como um novo subtipo, sendo caracterizada por inflamação da tireoide com numerosos plasmócitos IgG4-positivos e fibrose extensa. É possível que pertença ao espectro da doença sistêmica associada a IgG4. Relatamos o caso de um homem português de 56 anos que se apresentou com aumento progressivo do volume cervical e disfagia, com um mês de evolução. A avaliação laboratorial revelou elevação dos parâmetros inflamatórios, hipotireoidismo subclínico e níveis muito elevados de autoanticorpos tireoidianos. Por ultrassonografia cervical demonstrou-se tireoide aumentada, heterogênea, com dois nódulos hipoecoicos. Foi realizada citologia aspirativa com agulha fina guiada por ultrassom, compatível com tireoidite linfocítica. O doente foi submetido à tireoidectomia total e o exame histológico revelou achados típicos de TH, extensa fibrose localizada dentro da cápsula tireoidiana e infiltrado linfoplasmocitário, com >50 plasmócitos IgG4-positivos por campo de grande ampliação e uma relação IgG4/IgG >40%. Após cirurgia, a concentração sérica de IgG4 encontrava-se no limite superior do normal. Ocorreu melhoria sintomática e redução dos parâmetros inflamatórios. A função tireoidiana foi controlada com levotiroxina. Relatamos o primeiro caso de TH associada a IgG4 num indivíduo não asiático. Além disso, realizamos uma revisão da literatura sobre doença associada a IgG4 e TH associada a IgG4. Este caso destaca uma nova variante da TH e permite aos médicos reconhecerem suas principais características clínicas, proporcionando diagnóstico e tratamento adequados.

Aggressive pituitary lesion with a remarkably high Ki-67.

The uncommon aggressive pituitary tumors are named carcinomas when metastases are detected, either in the central nervous system and/or systemically. Some cases are associated with hormonal overproduction, but most are diagnosed because of local symptoms. These neoplasias are generally refractory to current treatments. A 51 year-old woman presented sudden onset of headache, left arm paresis and left facial hypoesthesia. Computed tomography scan and magnetic resonance imaging revealed a pituitary tumor invading the left sphenoidal and cavernous sinuses. Laboratory data excluded hormonal hypersecretion. The patient underwent transsphenoidal surgery and histological findings showed a neoplasia with Ki-67 estimated at 75%. Medical imaging excluded both a primary occult tumor and central nervous system or systemic dissemination. Three weeks postoperatively, neurological condition worsened, with new onset of ataxia, bilateral ptosis, ophthalmoplegia and an increase in the size of the lesion, leading to surgical intervention by craniotomy, followed by only a few sessions of radiotherapy, because of severe disease progression. Patient died nearly 2 months after the initial manifestations. This case illustrates the aggressiveness of some pituitary lesions, the limited efficacy of current treatment modalities such as surgery or radiotherapy and the pitfalls of the current pituitary tumors classification. To our knowledge, this case corresponds to one of the most aggressive pituitary neoplasms reported so far, with a very high Ki-67 index (75%) and short survival (2 months). Ki-67 index could be of prognostic value in pituitary tumors. Pituitary tumors World Health Organization (WHO) classification could be revisited.

Aggressive pituitary lesion with a remarkably high Ki-67 / Lesão pituitária agressiva com Ki-67 notavelmente elevado

The uncommon aggressive pituitary tumors are named carcinomas when metastases are detected, either in the central nervous system and/or systemically. Some cases are associated with hormonal overproduction, but most are diagnosed because of local symptoms. These neoplasias are generally refractory to current treatments. A 51 year-old woman presented sudden onset of headache, left arm paresis and left facial hypoesthesia. Computed tomography scan and magnetic resonance imaging revealed a pituitary tumor invading the left sphenoidal and cavernous sinuses. Laboratory data excluded hormonal hypersecretion. The patient underwent transsphenoidal surgery and histological findings showed a neoplasia with Ki-67 estimated at 75%. Medical imaging excluded both a primary occult tumor and central nervous system or systemic dissemination. Three weeks postoperatively, neurological condition worsened, with new onset of ataxia, bilateral ptosis, ophthalmoplegia and an increase in the size of the lesion, leading to surgical intervention by craniotomy, followed by only a few sessions of radiotherapy, because of severe disease progression. Patient died nearly 2 months after the initial manifestations. This case illustrates the aggressiveness of some pituitary lesions, the limited efficacy of current treatment modalities such as surgery or radiotherapy and the pitfalls of the current pituitary tumors classification. To our knowledge, this case corresponds to one of the most aggressive pituitary neoplasms reported so far, with a very high Ki-67 index (75%) and short survival (2 months). Ki-67 index could be of prognostic value in pituitary tumors. Pituitary tumors World Health Organization (WHO) classification could be revisited.

Os raros tumores pituitários agressivos são chamados carcinomas quando são detectadas metástases, sejam sistêmicas e/ou em sistema nervoso central. Alguns casos estão associados com superprodução de hormônio, mas a maioria é diagnosticada em função dos sintomas locais. Essas neoplasias são geralmente refratárias aos tratamentos atuais. Uma mulher com 51 anos de idade apresentou dor de cabeça de início súbito, paralisia de braço esquerdo e hipoestesia facial esquerda. A tomografia e a ressonância magnética revelaram um tumor pituitário invadindo os seios esfenoidal e cavernoso esquerdos. Os dados laboratoriais excluíram hipersecreção hormonal. A paciente foi submetida à cirurgia transesfenoidal, e os achados histológicos mostraram uma neoplasia com Ki-67 estimado em 75%. As imagens excluíram tanto um tumor oculto primário quanto disseminação sistêmica ou do sistema nervoso central. Três semanas após a cirurgia, a condição neurológica apresentou piora com início de ataxia, ptose bilateral, oftalmoplegia e aumento do tamanho da lesão, levando à intervenção cirúrgica por craniotomia, seguida por apenas algumas sessões de radioterapia devido à progressão grave da doença. A paciente veio a óbito depois de quase dois meses das manifestações iniciais. O caso ilustra a agressividade de algumas lesões pituitárias, a eficácia limitada das modalidades atuais de tratamento, como a cirurgia ou a radioterapia, e as limitações da classificação atual de tumores pituitários. Até onde sabemos, esse caso corresponde a uma das neoplasias pituitárias mais agressivas descritas até hoje, com um nível muito alto de Ki-67 (75%) e sobrevida curta (2 meses). O nível de Ki-67 pode ser de valor prognóstico em tumores pituitários. A classificação da Organização Mundial da Saúde (OMS) para tumores pituitários deveria ser revisitada.

Brachial plexus morphology and vascular supply in the wistar rat.

INTRODUCTION: The rat is probably the animal species most widely used in experimental studies on nerve repair. The aim of this work was to contribute to a better understanding of the morphology and blood supply of the rat brachial plexus. MATERIAL AND METHODS: Thirty adult rats were studied regarding brachial plexus morphology and blood supply. Intravascular injection and dissection under an operating microscope, as well as light microscopy and scanning electron microscopy techniques were used to define the microanatomy of the rat brachial plexus and its vessels. RESULTS: The rat brachial plexus was slightly different from the human brachial plexus. The arterial and venous supply to the brachial plexus plexus was derived directly or indirectly from neighboring vessels. These vessels formed dense and interconnected plexuses in the epineurium, perineurium, and endoneurium. Several brachial plexus components were accompanied for a relatively long portion of their length by large and constant blood vessels that supplied their epineural plexus, making it possible to raise these nerves as flaps. DISCUSSION: The blood supply to the rat brachial plexus is not very different from that reported in humans, making the rat a useful animal model for the experimental study of peripheral nerve pathophysiology and treatment. CONCLUSION: Our results support the homology between the rat and the human brachial plexus in terms of morphology and blood supply. This work suggests that several components of the rat brachial plexus can be used as nerve flaps, including predominantly motor, sensory or mixed nerve fibers. This information may facilitate new experimental procedures in this animal model.

Introdução: O rato é provavelmente a espécie animal mais utilizada em estudos experimentais de reparação nervosa. Com este trabalho pretendeu-se aprofundar o conhecimento da morfologia e da vascularização do plexo braquial do rato.Material e Métodos: Trinta ratos adultos foram estudados relativamente à morfologia e vascularização do plexo braquial. As técnicas usadas foram a injecção intravascular e dissecção sob microscópio operatório, bem como técnicas de microscopia óptica e microscopia electrónica de varrimento.Resultados: Morfologicamente, o plexo braquial do rato é um pouco diferente do plexo braquial humano. O suprimento arterial e venoso do plexo braquial do rato deriva direta ou indiretamente dos vasos vizinhos. Estes vasos formam plexos vasculares densos e interconectados no epinervo, perinervo e endonervo. Vários componentes do plexo braquial do rato são acompanhados durante um trajecto relativamente longo por vasos sanguíneos relativamente calibrosos e constantes que fornecem o seu plexo epineural, tornando o seu levantamento como retalhos nervosos possível.Discussão: A vascularização do plexo braquial do rato não é muito diferente da reportada na espécie humana, tornando o rato um modelo animal útil para o estudo experimental da fisiopatologia e tratamento da patologia do nervo periférico.Conclusão: Os nossos resultados apoiam a homologia entre o rato e o Homem em termos de morfologia e vascularização do plexo braquial. Este trabalho sugere que vários componentes do plexo braquial do rato podem ser utilizados como retalhos nervosos, incluindo fibras predominantemente motoras, sensitivas ou fibras mistas.

A 63-year-old woman presenting with a synovial sarcoma of the hand: a case report.

INTRODUCTION: Synovial sarcoma is a high-grade, soft-tissue sarcoma that most frequently is located in the vicinity of joints, tendons or bursae, although it can also be found in extra-articular locations. Most patients with synovial sarcoma of the hand are young and have a poor prognosis, as these tumors are locally aggressive and are associated with a relatively high metastasis rate. According to the literature, local recurrence and/or metastatic disease is found in nearly 80% of patients. Current therapy comprises surgery, systemic and limb perfusion chemotherapy, and radiotherapy. However, the 5-year survival rate is estimated to be only around 27% to 55%. Moreover, most authors agree that synovial sarcoma is one of the most commonly misdiagnosed malignancies of soft tissues because of their slow growing pattern, benign radiographic appearance, ability to change size, and the fact that they may elicit pain similar to that caused by common trauma. CASE PRESENTATION: We describe an unusual case of a large synovial sarcoma of the hand in a 63-year-old Caucasian woman followed for 12 years by a multidisciplinary team. In addition, a literature review of the most pertinent aspects of the epidemiology, diagnosis, treatment and prognosis of these patients is presented. CONCLUSION: Awareness of this rare tumor by anyone dealing with hand pathology can hasten diagnosis, and this, in turn, can potentially increase survival. Therefore, a high index of suspicion for this disease should be kept in mind, particularly when evaluating young people, as they are the most commonly affected group.