Chondrosarcoma of the maxilla: a case report and review of current literature

Chondrosarcoma is a malignant mesenchymal tumour that is the second most common bone tumour after osteosarcoma. Its diagnosis is among the most difficult ones in tumour pathology. Here, we report a very unique case of chondrosarcoma in maxillary sinus. A 45-year-old woman presented with a tumour on the left side of the maxillary sinus. CT and MRI imaging showed an abnormal mass destructing surrounding tissues. The final diagnosis of chondrosarcoma could not be made for a long time due to lack of correlation between clinical and microscopic examinations. The patient underwent left subtotal maxillectomy via Weber-Ferguson incision, bilateral ethmoidectomy, sphenoidectomy, and right upper turbinectomy, and excision of nasal septum, left frontal sinus, and left exenteration of orbit. Histological changes in the small biopsy specimen may be not sufficient for definitive diagnosis. Our case shows that radiography combined with histopathology is necessary to make the final diagnosis. The presented case revealed that chondrosarcoma can be a heterogeneous tumour. Collecting tissue samples from different locations is essential for improving diagnosis and reducing diagnostic error. Combining clinical data even with uncertain microscopic examination may be a solution in borderline and complicated cases.Chondrosarcoma is a malignant mesenchymal tumour that is the second most common bone tumour after osteosarcoma. Its diagnosis is among the most difficult ones in tumour pathology. Here, we report a very unique case of chondrosarcoma in maxillary sinus. A 45-year-old woman presented with a tumour on the left side of the maxillary sinus. CT and MRI imaging showed an abnormal mass destructing surrounding tissues. The final diagnosis of chondrosarcoma could not be made for a long time due to lack of correlation between clinical and microscopic examinations. The patient underwent left subtotal maxillectomy via Weber-Ferguson incision, bilateral ethmoidectomy, sphenoidectomy, and right upper turbinectomy, and excision of nasal septum, left frontal sinus, and left exenteration of orbit. Histological changes in the small biopsy specimen may be not sufficient for definitive diagnosis. Our case shows that radiography combined with histopathology is necessary to make the final diagnosis. The presented case revealed that chondrosarcoma can be a heterogeneous tumour. Collecting tissue samples from different locations is essential for improving diagnosis and reducing diagnostic error. Combining clinical data even with uncertain microscopic examination may be a solution in borderline and complicated cases

Chrzęstniakomięsak zatoki szczękowej: opis przypadku i przegląd aktualnej literatury

Chrzęstniakomięsak, złośliwy guz pochodzenia mezenchymalnego, jest drugim co do częstości występowania nowotworem kości po mięsaku kościopochodnym. Jego rozpoznanie należy do najtrudniejszych w patomorfologii. W narządach głowy i szyi ten typ nowotworu występuje rzadko. W pracy przedstawiono przypadek 45-letniej kobiety z nietypową manifestacją chrzęstniakomięsaka, pod postacią guza lewej zatoki szczękowej.Czterdziestopięcioletnią kobietę poddano szczegółowej diagnostyce z powodu podejrzenia procesu rozrostowego wywodzącego się z lewej zatoki szczękowej. W obrazach tomografii komputerowej (TK) i rezonansu magnetycznego (MRI) wykazano obecność nieprawidłowej masy naciekającej otaczające tkanki. Rozpoznanie chrzęstniakomięsaka nie zostało przez długi czas ustalone z powodu braku korelacji pomiędzy obrazem klinicznym a mikroskopowym. U chorej wykonano lewostronną, subtotalną maksilektomię metodą Webera-Fergusona, obustronną etmoidektomię, sfenoidektomię i prawą górną turbinektomię, wycięcie przegrody nosa, lewej zatoki czołowej oraz enukleację lewej gałki ocznej.Obraz mikroskopowy materiału z biopsji może nie być wystarczający do postawienia właściwej diagnozy. Powyższy przypadek przedstawia, jak istotna jest właściwa korelacja dostępnych wyników badań obrazowych oraz badań histopatologicznych oraz jak heterogennym nowotworem może być chrzęstniakomięsak. Pobranie do oceny tkanek z różnych fragmentów guza jest kluczowe dla zmniejszenia ryzyka błędu diagnostycznego. W skomplikowanych i niejednoznacznych przypadkach nawet niepewne rozpoznanie histopatologiczne możeokazać pomocne w ustaleniu właściwego postępowania terapeutycznego

An update on the epidemiology, imaging and therapy of brain metastases

Introduction.The incidence of brain metastases (BM) is rapidly increasing, with most cases occurring in patients aged 50–80 years and in 10–40% of patients with systemic neoplastic disease. The Graded Prognostic Assessment (GPA) is the most impartial prognostic method, according to which the average survival rate of patients with brain metastases is only 7.18 months. Purpose.To present a systematic review of the currently available evidence-based literature on the epidemiology, dia­gnosis, and treatment of BM. Methods.The authors searched PubMed up to March 2020 using the phrases “brain metastases”, “brain metastasis surgery”, and “brain metastases treatment”, which returned 65 citations. Conclusions.The choice of imaging and therapy for brain metastases remains a significant clinical problem. MRI, including T1, T1 + C, T2, FLAIR, and SWI sequences, is the most sensitive method for solitary BM detection, while other techniques such as spectroscopy, perfusion imaging, or fractional anisotropy contribute to diagnosis precision and neurological deficit avoidance in cases eligible for surgery. According to current treatment algorithms, three main methods are used to mana­ge BM: surgery, chemotherapy, and radiotherapy, depending on the expected effect and the patient’s clinical condition. Surgery is most often used, offering neurological deficit remission in 60 to 90% of patients. Most chemotherapeutics do not cross the blood-brain barrier, so immunotherapy with antibodies such as pembrolizumab and ipilimumab, as well as antineoplastic vaccines, are a promising therapeutic prospect

Mutations in the von Hippel-Lindau Tumour Suppressor Gene in Central Nervous System Hemangioblastomas

Central nervous system hemangioblastomas (cHAB) are rare tumours which most commonly arise in the cerebellum. Most tumours are sporadic, but as many as one third of cHABs occur in the course of the hereditary disorder - von Hippel-Lindau disease (VHL). In order to diagnose new VHL families in Poland we performed sequencing of the entire VHL gene in archival material (paraffin embedded hemangioblastoma tissues) in a large series of 203 unselected patients with cHAB. VHL gene mutations were detected in 70 (41%) of 171 tumour samples from which DNA of relatively good quality was isolated. We were able to obtain blood samples from 19 of mutation positive cases. Eight (42%) of these harboured germline mutations in persons from distinct undiagnosed VHL families

The Role of Inflammatory Cytokines in the Pathogenesis of Colorectal Carcinoma—Recent Findings and Review

The inflammatory process plays a significant role in the development of colon cancer (CRC). Intestinal cytokine networks are critical mediators of tissue homeostasis and inflammation but also impact carcinogenesis at all stages of the disease. Recent studies suggest that inflammation is of greater importance in the serrated pathway than in the adenoma-carcinoma pathway. Interleukins have gained the most attention due to their potential role in CRC pathogenesis and promising results of clinical trials. Malignant transformation is associated with the pro-tumorigenic and anti-tumorigenic cytokines. The harmony between proinflammatory and anti-inflammatory factors is crucial to maintaining homeostasis. Immune cells in the tumor microenvironment modulate immune sensitivity and facilitate cancer escape from immune surveillance. Therefore, clarifying the role of underlying cytokine pathways and the effects of their modulation may be an important step to improve the effectiveness of cancer immunotherapy

The diagnosis and management of congenital and adult-onset hyperinsulinism (nesidioblastosis) – literature review

Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological examination is necessary for a definitive diagnosis. CHI is a disorder with three histopathological variants: focal CHI, diffuse CHI, and atypical CHI. These variants are clinically indistinguishable. According to published statistics, 0.5 to 5% of nesidioblastosis cases occur in adults. Clinical manifestation ranges from mildly symptomatic up to life-threatening hypoglycaemia. Early diagnosis and treatment are important in young and very young patients because early treatment accounts for favourable mental outcomes

An update on the epidemiology, imaging and therapy of brain metastases

Introduction.The incidence of brain metastases (BM) is rapidly increasing, with most cases occurring in patients aged 50–80 years and in 10–40% of patients with systemic neoplastic disease. The Graded Prognostic Assessment (GPA) is the most impartial prognostic method, according to which the average survival rate of patients with brain metastases is only 7.18 months. Purpose.To present a systematic review of the currently available evidence-based literature on the epidemiology, dia­gnosis, and treatment of BM. Methods.The authors searched PubMed up to March 2020 using the phrases “brain metastases”, “brain metastasis surgery”, and “brain metastases treatment”, which returned 65 citations. Conclusions.The choice of imaging and therapy for brain metastases remains a significant clinical problem. MRI, including T1, T1 + C, T2, FLAIR, and SWI sequences, is the most sensitive method for solitary BM detection, while other techniques such as spectroscopy, perfusion imaging, or fractional anisotropy contribute to diagnosis precision and neurological deficit avoidance in cases eligible for surgery. According to current treatment algorithms, three main methods are used to mana­ge BM: surgery, chemotherapy, and radiotherapy, depending on the expected effect and the patient’s clinical condition. Surgery is most often used, offering neurological deficit remission in 60 to 90% of patients. Most chemotherapeutics do not cross the blood-brain barrier, so immunotherapy with antibodies such as pembrolizumab and ipilimumab, as well as antineoplastic vaccines, are a promising therapeutic prospect.Introduction. The incidence of brain metastases (BM) is rapidly increasing, with most cases occurring in patients aged 50–80 years and in 10–40% of patients with systemic neoplastic disease. The Graded Prognostic Assessment (GPA) is the most impartial prognostic method, according to which the average survival rate of patients with brain metastases is only 7.18 months. Purpose. To present a systematic review of the currently available evidence-based literature on the epidemiology, diagnosis, and treatment of BM. Methods. The authors searched PubMed up to March 2020 using the phrases “brain metastases”, “brain metastasis surgery”, and “brain metastases treatment”, which returned 65 citations. Conclusions. The choice of imaging and therapy for brain metastases remains a significant clinical problem. MRI, including T1, T1 + C, T2, FLAIR, and SWI sequences, is the most sensitive method for solitary BM detection, while other techniques such as spectroscopy, perfusion imaging, or fractional anisotropy contribute to diagnosis precision and neurological deficit avoidance in cases eligible for surgery. According to current treatment algorithms, three main methods are used to manage BM: surgery, chemotherapy, and radiotherapy, depending on the expected effect and the patient’s clinical condition. Surgery is most often used, offering neurological deficit remission in 60 to 90% of patients. Most chemotherapeutics do not cross the blood-brain barrier, so immunotherapy with antibodies such as pembrolizumab and ipilimumab, as well as antineoplastic vaccines, are a promising therapeutic prospect.

Immunotherapy as a Promising Treatment for Prostate Cancer: A Systematic Review

Prostate cancer treatment is currently based on surgical removal, radiotherapy, and hormone therapy. In recent years, another therapeutic method has emerged—immunological treatment. Immunotherapy modulates and strengthens one’s immune responses against cancer. Neoplastic cells naturally escape from the control of the immune system, and the main goal of immune therapy is to bring the control back. Satisfying outcomes after treatment of advanced melanoma and lung cancer suggest a great potential of immunotherapy as an approach for other tumors’ treatment, especially in patients primarily introduced to palliative care. After initial clinical trials, immunotherapy seems to have different side effects than chemotherapy. Prostate cancer was the first neoplasm in which a specific vaccine significantly improved survival. There is a tremendous potential for synergistic combinations of immunotherapy with conventional cancer treatments. A combination of several drugs or methods can be a key in radical treatment of metastatic prostate cancer as demonstrated by preliminary studies

High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing

The mammary gland undergoes hormonally stimulated cycles of proliferation, lactation, and involution. We hypothesized that these factors increase the mutational burden in glandular tissue and may explain high cancer incidence rate in the general population, and recurrent disease. Hence, we investigated the DNA sequence variants in the normal mammary gland, tumor, and peripheral blood from 52 reportedly sporadic breast cancer patients. Targeted resequencing of 542 cancer-associated genes revealed subclonal somatic pathogenic variants of: PIK3CA, TP53, AKT1, MAP3K1, CDH1, R81, NCOR1, MED12, CBFB, T8X3, and TSHR in the normal mammary gland at considerable allelic frequencies (9 x 10(-2) - 5.2 x 10(-1)), indicating clonal expansion. Further evaluation of the frequently damaged PIK3CA and TP53 genes by ultra-sensitive duplex sequencing demonstrated a diversified picture of multiple low-level subclonal (in 10(-2)-10(-4) alleles) hotspot pathogenic variants. Our results raise a question about the oncogenic potential in non-tumorous mammary gland tissue of breast-conserving surgery patients