Rare Primary Tumor Research Articles

Undifferentiated Embryonal Sarcoma of the Liver: A Case Report

Undifferentiated embryonal sarcoma of the liver((UESL) is a very rare primary hepatic tumor, of mesenchymal origin. Primary malignant mesenchymal tumors of the liver are relatively rare compared with carcinomas originating from hepatocytes or cholangiocytes. UESL is usually observed in children, and cases of adults are very uncommon. It was first reported in 1978. Because of rarity of the disease, there were few reported cases. Herein we report an our experience of UES of the liver patient. A 33-year-old woman visit our outpatient department presented with epigastric pain for 2 weeks. Huge complex cystic mass of the left liver(about 12cm) was identified on computed tomography(CT) of the abdomen. Compared with CT of 8 months ago, the size of the lesion was increased by 5 cm. Her laboratory study including tumor marker at initial presentation revealed no abnormal findings. We considered the lesion to be a complicated hepatic cyst. Since an increase in the size of the lesion was observed and she also had epigastric pain, we decided to proceed with surgery. We performed laparoscopic left hepatectomy. Microscopically, the tumor was composed of spindle cell proliferation, nuclear pleomorphism, myxoid stroma and frequent mitosis. The pathologic report revealed undifferntiated embryonal sarcoma. This case presented as a cystic lesion in the liver and had typical histological features of UESL. It is a rare case of a malignant pediatric tumor occurring in an adult patient.

Primary pancreatic lymphoma: thinking beyond pancreatic adenocarcinoma.

Primary pancreatic lymphoma is one of the rare primary pancreatic tumors with a low incidence compared to adenocarcinoma, which is the most frequent. Currently there are diagnostic tools such as percutaneous biopsy and endoscopic ultrasound to reach its diagnosis. Primary lymphoma of the pancreas has defined therapeutic targets as well as a better prognosis compared to other tumors.

Caught Up with the Chordoma: A Rare Extraosseus Encounter

Spine extraosseous chordoma is a rare primary malignant tumor which may be easily misdiagnosed. In this report, we describe a case of an elderly man who presented with severe low back pain and gradual limb weakness with physical examination consistent with L3/L4 radiculopathy. MRI showed intervertebral disc extrusion which is proven histologically as a chordoma. Despite its rarity and radiological finding mimicking the more commonly encountered prolapsed intervertebral disc, a differential diagnosis of spine extraosseous chordoma should be considered and ruled out especially in elderly patient presenting with radiculopathy.

A 28-Year-Old Man With Mediastinal Seminoma Treated With BEP

Highlight:A 28-year-old male suffered chylothorax and mediastinal seminoma.The patient received bleomycin, etoposide and cisplatin chemotherapy for the management of mediastinal seminomas but he died beforeundergoing 5th cycle chemotherapy. Abstract:Seminoma is a type of germ cell tumor. In this case presentation, a rare primary germ cell tumor was reported in the form of mediastinal seminoma. A 28-year-old man with symptoms of shortness of breath, chest pain, swelling in the right upper extremity, enlarged lymph nodes in the colli region. Thoracic physical examination revealed signs of pleural fluid in the right hemithorax. After obtaining the results of radiological and pathological investigations, a mediastinal mass was obtained, then BEP chemotherapy was given. After 3 cycles of chemotherapy, a partial response was obtained. Patients with mediastinal seminoma treated with BEP base chemotherapy gave a partial response.

Merkel cell carcinoma in situ: A systematic review of prognosis and management.

Merkel cell carcinoma (MCC) is a rare primary cutaneous neuroendocrine tumour. While dermally invasive MCC is known to have a five-year survival of only 30-40%, the prognosis and management of MCC in situ (MCCis) is not widely reported. We present a systematic review to elucidate the prognosis and management of MCCis. We performed a systematic review, searching three databases to 01 June 2021. Case reports, cohort studies, clinical trials and literature reviews were considered for inclusion. We identified 26 cases of MCCis published in the literature with a median age of 74 years and involving 19 males and 7 females. Most cases were on the face and neck (n = 17), followed by upper limb (n = 8) and lower limb (n = 1). Sentinel lymph node biopsy was performed in three patients, and all were negative. One subject underwent adjuvant radiotherapy. No MCCis-associated deaths were reported. This review suggests that MCCis has an excellent prognosis with minimal, if any, risk of mortality and a very low risk of dermal invasion and recurrence when treated with wide local excision alone. Sentinel lymph node biopsy is unlikely to be useful for MCCis.

An Overview of Intracranial Ependymomas in Adults

Simple SummaryEpendymomas are neuroepithelial tumors arising from the central nervous system. They can form anywhere along the neuraxis. In adults, these tumors predominantly occur in the spine. Local therapy with surgery and radiotherapy represents the most effective treatment while systemic chemotherapy should be used in recurrent cases. However, in recent years, a deeper knowledge of molecular mechanisms of these tumors has been made, allowing for new potential systemic treatments. Here, we review these treatment approaches and provide an overview on the molecular characteristics of ependymomas.Ependymomas are rare primary central nervous system tumors. They can form anywhere along the neuraxis, but in adults, these tumors predominantly occur in the spine and less frequently intracranially. Ependymal tumors represent a heterogenous group of gliomas, and the WHO 2016 classification is based essentially on a grading system, with ependymomas classified as grade I, II (classic), or III (anaplastic). In adults, surgery is the primary initial treatment, while radiotherapy is employed as an adjuvant treatment in some cases of grade II and in all cases of anaplastic ependymoma; chemotherapy is reserved for recurrent cases. In recent years, important and interesting advances in the molecular characterization of ependymomas have been made, allowing for the identification of nine molecular subgroups of ependymal tumors and moving toward subgroup-specific patients with improved risk stratification for treatment-decisions and future prospective trials. New targeted agents or immunotherapies for ependymoma patients are being explored for recurrent disease. This review summarizes recent molecular advances in the diagnosis and treatment of intracranial ependymomas including surgery, radiation therapy and systemic therapies.

Purely suprasellar (Hypothalamic) atypical teratoid rhabdoid tumor presenting with diabetes insipidus and panhypopituitarism in an adult male: A case report and review of literature

Atypical teratoid rhabdoid tumor (ATRT) is a rare primary malignant tumor of the central nervous system. Little knowledge is available about natural history, behavior, prognosis, and best management guidelines of such tumor. Its occurrence in adults is very rare and more predominant in females. Locations in adults are mainly cerebral hemispheres, but recently, more cases are reported in sellar/suprasellar cisterns. We are reporting a case of purely suprasellar ATRT of a middle aged male who presented initially with diabetes insipidus (DI).

Liver Transplantation for Unresectable Intrahepatic Cholangiocarcinoma: The Role of Sequencing Genetic Profiling.

Simple SummaryIntrahepatic cholangiocarcinoma is a rare disease with increasing incidence and mortality still characterized by an insufficient clinical outcome. Growing attention has recently surrounded this disease, and liver transplantation has emerged as a novel curative treatment for cholangiocarcinoma, along with a better understanding of genetic alterations potentially capable of driving tumorigenesis. The aim of this paper is to present a clinical description of our case series of patients affected by intrahepatic cholangiocarcinoma and by mixed forms of hepatocellular and cholangiocellular carcinoma, together with a genomic profiling of mutations occurring in a panel of genes relevant to solid tumor cancer investigations. Mutations were observed in genes activating signaling pathways known to be involved in intrahepatic cholangiocarcinoma tumorigenesis; a strong association was observed between mutation in genes involving the Notch signaling pathway and tumor size (point-biserial rhopb = 0.93). Intrahepatic cholangiocarcinoma (iCCA) is a rare and aggressive primary liver tumor, characterized by a range of different clinical manifestations and by increasing incidence and mortality rates even after curative treatment with radical resection. In recent years, growing attention has been devoted to this disease and some evidence supports liver transplantation (LT) as an appropriate treatment for intrahepatic cholangiocarcinoma; evolving work has also provided a framework for better understanding the genetic basis of this cancer. The aim of this study was to provide a clinical description of our series of patients complemented with Next-Generation Sequencing genomic profiling. From 1999 to 2021, 12 patients who underwent LT with either iCCA or a combined hepatocellular and cholangiocellular carcinoma (HCC-iCCA) were included in this study. Mutations were observed in gene activating signaling pathways known to be involved with iCCA tumorigenesis (KRAS/MAPK, P53, PI3K-Akt/mTOR, cAMP, WNT, epigenetic regulation and chromatin remodeling). Among several others, a strong association was observed between the Notch pathway and tumor size (point-biserial rhopb = 0.93). Our results are suggestive of the benefit potentially derived from molecular analysis to improve our diagnostic capabilities and to devise new treatment protocols, and eventually ameliorate long-term survival of patients affected by iCCA or HCC-iCCA.

Gradually progressive cholangiolocellular carcinoma: a case report

BackgroundCholangiolocellular carcinoma (CoCC) is a relatively rare primary liver tumor. We present a literature review and case report of a patient who presented with a slow-growing CoCC that was completely resected after a 5-year follow-up period.Case presentationThe patient was a 66-year-old man with a history of inflammatory thoracic and intra-abdominal pseudo-tumors. He was regularly followed up at our hospital for partial dilation of the pancreatic duct branch located in the body of the pancreas. Five years earlier, computed tomography (CT) demonstrated a small tumor in liver segment 4. Radiological findings were suggestive of hemangioma. Tumor size gradually increased during the 5-year follow-up period. CT scans showed that the tumor had progressed in size from 10 to 20 mm. Positron emission tomography CT revealed an accumulation of fluorodeoxyglucose (standardized uptake value max 5.3) at the tumor site. The tumor exhibited high intensity on T2-weighted and diffusion-weighted images of ethoxybenzyl magnetic resonance imaging. The tumor showed high intensity during the early phase but low intensity during the hepatobiliary phase. Tumor markers were within their respective normal ranges. Suspecting intrahepatic cholangiocarcinoma, left hepatectomy was performed. The tumor was diagnosed as CoCC based on pathological findings. The patient’s post-operative course was uneventful. The patient survived for a year, without any recurrence.ConclusionsIn cases dealing with small tumor sizes, it is difficult to distinguish between CoCC and hemangioma due to their similar radiological findings. Thus, it is important to consider the diagnosis of CoCC in small benign hepatic tumors. As such, follow-up radiological examination is recommended.

CSIG-28. REGULATION OF GEMC1 MULTICILIOGENESIS PROGRAM IN CHOROID PLEXUS CARCINOMA

Abstract Tumors of the choroid plexus (CP) are rare primary brain neoplasms mostly found in children. CP tumors exist in three forms: CP papilloma (CPP), atypical CPP, and CP carcinoma (CPC). Though CPP is more benign, CPC is a highly lethal and little understood cancer with poor survival rate and a tendency for recurrence and metastasis. CP tumors are thought to arise from CP epithelial cells that secrets cerebral spinal fluid and generate multiple cilia on their apical surface. Here we show that aberrant NOTCH and Sonic Hedgehog signaling in mice drive tumors that resemble CPC in humans. In contrast to CP epithelial cells with clusters of multiple cilia, NOTCH-driven CP tumors were monociliated, and disruption of the NOTCH complex restored multiciliation and decreased tumor growth. NOTCH suppressed multiciliation in tumor cells by inhibiting the expression of Geminin Coiled-Coil Domain Containing 1 (GEMC1), and multiciliate differentiation and DNA synthesis associated cell cycle protein (MCIDAS), early transcriptional regulators of multiciliated cell (MCC) differentiation. Consistently, Gemc1-Mcidas deficiency led to a lack of MCCs in the CP, and impaired the correction of the multiciliation defect in tumor cells by a NOTCH inhibitor. Disturbances to the GEMC1 program are commonly observed in human CPCs characterized by solitary cilia and frequent somatic TP53 mutations. Accordingly, CPC driven by deletion of tumor suppressors Trp53 and Rb1 in mice exhibits a cilia deficit consequent to loss of Gemc1-Mcidas expression. Taken together, these findings reveal that the GEMC1-MCIDAS multiciliogenesis program in the CP is critical for inhibiting tumorigenesis, whereas a defective multiciliation program promotes CPC and may represent a therapeutic avenue for this cancer.

CTIM-32. IMMUNE CHECKPOINT INHIBITOR NIVOLUMAB IN PEOPLE WITH RECURRENT SELECT RARE CNS CANCERS: RESULTS OF INTERIM ANALYSIS IN A HEAVILY PRETREATED COHORT

Abstract INTRODUCTION Standard and experimental therapies for patients with rare CNS tumors are scarce. Nivolumab (PD-1 inhibitor) is approved for several non-CNS cancers. This ongoing Phase II trial (NCT03173950) will determine the efficacy of nivolumab in adults with recurrence/progression of one of 11 selected rare primary CNS tumors. Efficacy is measured by Disease Control Rate (DCR; confirmed CR/PR or durable SD for ≥ 6 months) in 2 cohorts: heavily and non-heavily pretreated patients (heavily pretreated: ≥ 3 prior therapies; non-heavily pretreated: ≤ 2). We report efficacy and safety results of a preplanned interim analysis in the heavily pretreated cohort. METHODS Eligibility includes recurrence/progression of an eligible tumor; age ≥ 18 years; tumor tissue available for histopathology, molecular and immune profiling; KPS ≥ 70; and no steroids at study entry. A total of 150 evaluable patients will be enrolled (75 to each cohort). Prior therapies include radiation and/or standard or investigational drugs. Nivolumab treatment is 240 mg IV every 2 weeks (4 doses); then 480 mg every 4 weeks (14 additional doses). Interim analysis was planned when sample size reached 32 in each cohort. RESULTS As of March 10, 2021, DCR exceeded the minimum required for interim analysis in the heavily pretreated cohort. Among 30 patients, 4 achieved SD > 6 months (medulloblastoma, anaplastic ependymoma, myxopapillary ependymoma, metastatic atypical meningioma). Safety profile (related AEs): grade 3 = 7; grade 4 = 1. Most frequent grade 3-5 AEs regardless of attribution: tumor progression (6); anemia, hydrocephalus, lymphopenia (3 each); cerebral edema, headache (2 each). CONCLUSION DCR exceeded the “go” boundary (i.e., > 2) in the heavily pretreated cohort. Nivolumab showed safety profile consistent with other studies. This cohort will continue to stage 2 and complete total accrual of 75 patients. The trial is currently being expanded to 10 additional sites across the BTTC/NCI-CONNECT consortium.

High-grade undifferentiated pleomorphic cardiac sarcoma: A rare malignant primary cardiac tumor mimicking double mitral lesion

High-grade undifferentiated pleomorphic cardiac sarcoma: A rare malignant primary cardiac tumor mimicking double mitral lesion

Effect of Adjuvant Chemotherapy on Localized Malignant Giant Cell Tumor of Bone: A Systematic Review.

Simple SummaryThe effect of adjuvant chemotherapy on localized malignant giant cell tumors of the bone (GCTB) is unclear. We compared the mortality associated with wide resection compared to wide resection plus adjuvant chemotherapy for localized primary and secondary localized malignant GCTB. Among 745 relevant studies, 9 were included, with 39 and 73 primary and secondary malignant patients. In primary localized malignant GCTB, the mortality rates were 40% (6/15 patients) and 33% (8/24 patients) in the surgery plus adjuvant chemotherapy and surgery-only groups, respectively. The overall pooled odds ratio was 1.07 (p = 0.92). In secondary localized malignant GCTB, the mortality rates were 30.6% (11/36 patients) and 62.2% (23/37 patients) in the surgery plus adjuvant chemotherapy and surgery-only groups, respectively. The overall pooled odds ratio was 0.31 (p = 0.04). The effect of adjuvant chemotherapy remains unclear for primary localized malignant GCTB, but adjuvant chemotherapy improved the survival of patients with secondary localized malignant GCTB.A malignant giant cell tumor of the bone (GCTB) is a rare primary malignant tumor classified as primary or secondary. Wide resection of the primary tumor is recommended for localized malignant GCTB, but the effect of adjuvant chemotherapy is unclear. A systematic review was performed to compare the mortality associated with wide resection with that of wide resection plus adjuvant chemotherapy for primary and secondary localized malignant GCTB. Among the 745 studies identified, 9 were included. A total of 112 cases of localized malignant GCTB were included, with 39 and 73 cases being primary and secondary malignant GCTB. In primary localized malignant GCTB, the mortality rates were 40% (6/15 patients) and 33% (8/24 patients) in the surgery plus adjuvant chemotherapy and surgery-only groups, respectively. Overall pooled odds ratio was 1.07 (95% confidence interval, 0.26–4.37; p = 0.92). In secondary localized malignant GCTB, the mortality rates were 30.6% (11/36 patients) and 62.2% (23/37 patients) in the surgery plus adjuvant chemotherapy and surgery-only groups, respectively. The overall pooled odds ratio was 0.31 (95% confidence interval, 0.10–0.95; p = 0.04). The effect of adjuvant chemotherapy remains unclear for primary localized malignant GCTB, but adjuvant chemotherapy improved the survival of patients with secondary localized malignant GCTB.

Cell Biology of Giant Cell Tumour of Bone: Crosstalk between m/wt Nucleosome H3.3, Telomeres and Osteoclastogenesis.

Simple SummaryThe overall clinical and cell biological behaviour of giant cell tumour of bone still remains very difficult to understand. This entity is a prototype neoplasm illustrating that the scientific work around nucleosome mutations in cancer is a hot topic. This review tries to summarise and integrate the wide spread insights in this research era with specific attention to the cell biological aspects of giant cell tumour of bone with the focus on genomic and epigenomic alterations that may lead to genomic instability and malignancy. Moreover, the ultimate goal is to connect all major characteristics of this tumour to a comprehensive understanding, like parts of a broad etiogenic puzzle, which may lead to new insights.Giant cell tumour of bone (GCTB) is a rare and intriguing primary bone neoplasm. Worrisome clinical features are its local destructive behaviour, its high tendency to recur after surgical therapy and its ability to create so-called benign lung metastases (lung ‘plugs’). GCTB displays a complex and difficult-to-understand cell biological behaviour because of its heterogenous morphology. Recently, a driver mutation in histone H3.3 was found. This mutation is highly conserved in GCTB but can also be detected in glioblastoma. Denosumab was recently introduced as an extra option of medical treatment next to traditional surgical and in rare cases, radiotherapy. Despite these new insights, many ‘old’ questions about the key features of GCTB remain unanswered, such as the presence of telomeric associations (TAs), the reactivation of hTERT, and its slight genomic instability. This review summarises the recent relevant literature of histone H3.3 in relation to the GCTB-specific G34W mutation and pays specific attention to the G34W mutation in relation to the development of TAs, genomic instability, and the characteristic morphology of GCTB. As pieces of an etiogenetic puzzle, this review tries fitting all these molecular features and the unique H3.3 G34W mutation together in GCTB.

Clinical experience and management outcome of WHO grade II pediatric intramedullary ependymomas: A descriptive study

Abstract Background: Intramedullary ependymom‑a is a rare primary tumor in the pediatric population. The World Health Organization (WHO) grade II pediatric intramedullary ependymoma (PIME) is the most common in frequency, though it is a less discussed pathological grade. This study aims at sharing the clinical experience and management outcome of WHO grade II PIME from a tertiary care center. Materials and Methods: The clinico-radiological details of all histologically proven, newly diagnosed primary PIME that underwent management were collected. Recurrent lesions and other spinal cord tumors were excluded. Details of surgical intervention and follow-up visits were reviewed from the record-keeping system. The surgical nuances and outcome predictors in the form of functional grade were analyzed. The statistical data were calculated by using the appropriate statistical tests. Results: The mean age of the study population was 16.3 ± 4.0 years. The male-to-female ratio was 2:1. The pain was noticed in 14 patients (14/18 [77.8%]), and four (22.2%) patients were ambulant at the time of admission. Overall, 15 (83.3%) patients underwent total excision, and subtotal excision was achieved in three patients. The median follow-up period was 31.0 months, and the range was 2–126 months. After surgical decompression of tumor, there was a significant improvement in the modified McCormick’s grade, when median score was compared between preoperative period and the last follow-up visits (4 [2.8–4] vs. 2 [2–3], P = 0.001). There was one case of surgical mortality, with two symptomatic recurrences after surgical resection. Conclusions: The progression-free survival (PFS) and overall survival (OS) depend on early excision at better functional status. Age, gender, and vertical extension of tumor have a debatable impact on the overall outcome in PIME.

B CELL LYMPHOMA PRESENTING AS A CYSTIC LUNG DISEASE

TOPIC: Lung Cancer TYPE: Fellow Case Reports INTRODUCTION: Cystic lung airspaces can be seen in a multitude of diseases including lymphangioleiomyomatosis, Langerhan cell histiocytosis, Birt-Hogg-Dube syndrome, cystic metastases, or even postinfectious pneumatoceles. Lymphoma, however, is not often included in the differential diagnosis. We describe a rare presentation of B cell lymphoma presenting as a cystic lung disease. CASE PRESENTATION: Forty five year old female with a past medical history of diabetes mellitus and hypertension was originally referred to us for a lung biopsy. Patient had worsening shortness of breath for 1 year. She had a computed tomography of the chest at another facility which showed extensive cystic spaces in the lungs, suspicious for lymphangiomyomatosis. Patient was evaluated by a pulmonologist as an outpatient and had a bronchoscopy with biopsy. After receiving inconclusive results, she was given a course of antibiotics and had relief of her symptoms for some time. Months later the patient had an episode of severe coughing which prompted a visit to a hospital within our system where she had another computed tomography of the chest with contrast revealing the same diffuse cystic disease that was worse at the bases. She was subsequently referred to us and underwent video-assisted thoracic surgery with right upper, middle, and lower lobe biopsies. Pathology of the right middle lobe was revealed diffuse large B-cell lymphoma. Cystic change was seen in all of the biopsies. DISCUSSION: Lymphoma is one of the great masqueraders in medicine. Because of this, it should be included in the differential diagnosis for patients such as this with multiple cystic airspaces. Primary pulmonary extranodal lymphomas are rare, accounting for 0.4% of all lymphomas, and only 15-20% of these are high grade. These lymphomas are usually either mucosa-associated (MALT) or bronchus-associated lymphoid tissue (BALT) lymphomas. Presentations vary but are most often found as solitary nodules or masses and may be found incidentally. With more diffuse disease, other symptoms like shortness of breath, cough, chest pain, or even hemoptysis may arise. There is an association between immunosuppression and pulmonary lymphomas, as well with human immunodeficiency virus (HIV) infection and inflammatory conditions like rheumatoid arthritis and Sjogren disease. Diagnosis requires surgical biopsy because a bronchoalveolar lavage or fine needle biopsy may show lymphoma cell infiltration but cannot exclude other differential diagnoses such as reactive lymphoid proliferation, or lymphoid interstitial pneumonia. CONCLUSIONS: Lymphoma is one of the great masqueraders in medicine and can present in many different ways. Because of this, it should be included in the differential diagnosis in patients such as this with multiple cystic airspaces of the lungs. Diagnosis requires a surgical biopsy which should be included in these cases. REFERENCE #1: Girard, N., & Cadranel, J. (n.d.). Rare Primary Lung Tumors. In Murray and Nadel's Textbook of Respiratory Medicine (6th ed., pp. 965-980). Elsevier. REFERENCE #2: Hagga, John. "Nonneoplastic Parenchymal Lung Disease." CT and MRI of the whole body, 6th ed., Elsevier, 2017, pp. 928–983. REFERENCE #3: Myers, J. L. (2018). Lung. In Rosai and Ackerman's Surgical Pathology (11th ed., pp. 372-443). Elsevier. DISCLOSURES: no disclosure on file for Bishoy Hanna; No relevant relationships by Diego Marin, source=Web Response no disclosure on file for Christina Migliore Patel; no disclosure on file for Xinlai Sun

Primary Neuroendocrine Tumor of Mesentry-A Rare Case Report

Primary neuroendocrine tumor of the mesentery is very rare. More than 90% of gastrointestinal neuroendocrine tumors are located in the appendix, small intestine and rectum. We report a case of 70yr old male with very rare primary neuroendocrine tumor of the mesentery without any evidence of any primary tumor site. The only symptoms were persistent pain of the abdomen lasting for one year. The mass was radically excised during laparotomy. CT and MRI were useful to clarify the site of origin of the tumor but final diagnosis was based on histological findings.

Malignant gastrointestinal neuroectodermal tumor: Cytologic, histologic, immunohistochemical, and molecular pitfalls

Malignant gastrointestinal neuroectodermal tumor (GNET) is a rare malignant primary gastrointestinal mesenchymal tumor which can be diagnosed via fine-needle aspiration (FNA) cytology. In the context of FNA, the diagnosis requires a cell block and the use of significant resources including immunohistochemical stains and molecular testing. The differential diagnosis of GNET includes clear cell sarcoma (CCS), gastrointestinal stromal tumor (GIST), gastric schwannoma, metastatic melanoma, malignant perivascular epithelioid cell tumor (PEComa) and granular cell tumor, among others. Here we describe a case which was initially diagnosed as malignant granular cell tumor by FNA which was later revised to GNET following the finding of an EWSR1-ATF1 fusion gene rearrangement.

Recent Advances in the Treatment of Bone Metastases and Primary Bone Tumors: An Up-to-Date Review.

Simple SummaryBone represents a common metastatic site for patients with advanced cancers while also being associated with rare but challenging primary tumors. As the treatment of bone sarcomas and metastases encountered a slowdown in its development, complementary and alternative strategies to conventional therapies started being investigated. In this respect, this paper proposes a comprehensive path, beginning with the types of bone tumors and current treatment options, and further detailing the recent advancements in the field, including adjuvant therapies, targeted drug delivery, novel bone substitutes, and multifunctional tissue-engineered scaffolds with synergic properties. In the last decades, the treatment of primary and secondary bone tumors has faced a slow-down in its development, being mainly based on chemotherapy, radiotherapy, and surgical interventions. However, these conventional therapeutic strategies present a series of disadvantages (e.g., multidrug resistance, tumor recurrence, severe side effects, formation of large bone defects), which limit their application and efficacy. In recent years, these procedures were combined with several adjuvant therapies, with different degrees of success. To overcome the drawbacks of current therapies and improve treatment outcomes, other strategies started being investigated, like carrier-mediated drug delivery, bone substitutes for repairing bone defects, and multifunctional scaffolds with bone tissue regeneration and antitumor properties. Thus, this paper aims to present the types of bone tumors and their current treatment approaches, further focusing on the recent advances in new therapeutic alternatives.

A 7 cm trachea resection and carina reconstruction due to a rare tracheal carina tumor

Background: Tracheal Squamous Cell Carcinoma (SCC) is a rare primary tumour. Currently, surgery is the main treatment, but it becomes the biggest obstacle to surgery when the tumour invades the trachea for more than 6 cm. Case presentation: A 56-year-old Asian man presented with expectoration and asthma as his initial symptoms. Because of the particularity of tumour location and volume, we removed the 7 cm bronchus and performed carinau reconstruction. Conclusion: How to treat the rare tumours at tracheal carina is a valuable and rare example that could be reference in many centres.