Uncommon Malignancy Research Articles

Rare Presentation of Extraskeletal Osteosarcoma Mimicking Phyllodes Tumor

Abstract Introduction/Objective A 57-year-old female presented with a palpable mass in the left breast, measuring up to 9 cm by ultrasound. core needle biopsy identified an atypical spindle cell lesion. The differential diagnosis included a metaplastic carcinoma, borderline phyllodes tumor, malignant phyllodes tumor with potential sarcomatous transformation. Methods/Case Report Histological examination of the tumor was performed, and immunohistochemical stains were conducted to characterize the lesion. Further consultation with a specialized pathologist at the University of Michigan was sought to confirm the diagnosis. Molecular analysis was performed to assess for specific genetic alterations and expression patterns. The histological examination revealed a proliferation of atypical spindle cells forming a fascicular and storiform pattern, with numerous large, pleomorphic, multinucleated tumor cells and a high mitotic rate. Immunohistochemical stains showed strong positivity for CD10 and vimentin, with focal weak expression for desmin, and negativity for a broad panel of cytokeratins and other markers. Consultation with Dr. Abbott at the University of Michigan supported the diagnosis of extraskeletal osteosarcoma. Molecular analysis revealed PD-L1 expression and absence of NTRK gene fusions. FISH analysis showed suggestive alterations including loss of BRAF gene, loss of MYC, and suggestive gains or polysomy of PTEN gene. Results (if a Case Study enter NA) NA Conclusion The case represents a rare presentation of extraskeletal osteosarcoma in the breast, with distinctive histological and immunohistochemical features. The comprehensive workup including histology, immunohistochemistry, and molecular analysis aids in accurate diagnosis and potential therapeutic implications. Further research may elucidate the underlying mechanisms and treatment options for this uncommon malignancy.

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) in Romania: First case series of all documented cases

SummaryBreast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is an uncommon malignancy linked to textured breast implants by moderate evidence in 2021. Documenting Romanian cases provides valuable insights into epidemiology, management, and outcomes, enhancing global understanding and informing clinical practices. Our objectives were to analyze BIA-ALCL cases in Romania, focusing on patient demographics, implant characteristics, clinical presentation, diagnostic methods, treatment, and outcomes.We conducted a retrospective review of all known BIA-ALCL cases in Romania, examining patient demographics, implant details, clinical presentation, diagnostic methods, and outcomes. Data sources included medical records, surgical reports, follow-up data, and implant characteristics like shape, texture, and manufacturer.The mean age at diagnosis was 44.4 years. All patients had textured implants and no replacements, 4 with aesthetic indication and 1 reconstruction. The mean time from implantation to diagnosis was 7.2 years. Clinical presentations were primarily late seromas, diagnosed through fine needle aspiration and immunohistochemistry. Treatments involved multidisciplinary teams, with bilateral en-bloc explantation and adjuvant therapies in two cases. One patient had immediate reconstruction with smooth implants and Acellular Dermal Matrix. No disease recurrence was observed post-treatment.The low BIA-ALCL prevalence in Romania estimated at 1:44,500 compared to the mean of 1:13,745 in Europe indicates the need for an increased awareness and tracking. Establishing mandatory national implant registries, pathology databases, and enhancing physician and patient education will help identify potential cases. All cases involved textured implants, highlighting the need for ongoing research to identify risk factors and guide surgeons consulting patients with these implants.

Systemic Therapy Options for Peritoneal Mesothelioma.

Peritoneal mesothelioma is an uncommon malignancy affecting approximately 300 new patients annually in the United States. Due to its low incidence, prospective clinical trials specific to this disease are scant. Recommendations regarding systemic therapy are mostly extrapolated from clinical trials conducted among patients with pleural mesothelioma. At present, the recommended first-line systemic treatment options may include immunotherapy with nivolumab plus ipilimumab or chemotherapy with pemetrexed plus either cisplatin or carboplatin. For second-line treatment, the other previously unchosen first-line option can be used. Off-label bevacizumab may be considered in combination with chemotherapy among carefully selected patients. The benefit of third-line treatment or beyond is less clear. Nonetheless, a number of single-agent regimens show modest activity. Anecdotal reports of children or young adults with peritoneal mesothelioma harboring ALK rearrangement have suggested the efficacy of ALK inhibitors for this rare population. In summary, there is a growing number of systemic therapy options for peritoneal mesothelioma. To gain a better insight into this disease, future prospective trials in mesothelioma should include more patients with peritoneal mesothelioma.

A rare expediting killer-primary thyroid gland sarcoma

Primary thyroid malignancies can be classified into differentiated type (follicular, papillary, medullary, and anaplastic) and un-differentiated type or non-epithelial malignancies, particularly lymphomas and sarcomas. The reported frequency of primary thyroid sarcoma (PTS) cases ranges from 0.01% to 1.5%. Based on this fact, we present a case report of rare primary thyroid sarcoma (PTS) in Hospital Sibu, Sarawak. Our patient is a 78-year-old lady with multiple co-morbidities and her clinical deterioration is so rapid that its progression mimics thyroid anaplastic carcinoma which is commonly seen in female elderly as well. To diagnose such uncommon thyroid malignancy, the histopathology of the tumour needs to be conducted with immunohistochemical staining. Radiographic imaging such as computed tomography or magnetic resonance imaging of whole body is required for staging purpose and to look for metastasis. We analyze the clinical presentations of PTS and discuss its treatment and prognosis. The treatment of PTS must be assessed individually on case-by-case basis as currently there is no general consensus on treating this cancer.

Association between Infection and Calculated Globulin Level among Patients with Thymic Epithelial Tumor.

Background: Thymic epithelial tumors (TETs) are uncommon malignancies uniquely associated with autoimmunity and immunodeficiency. Previous studies among patients with primary immunodeficiency diseases have shown that a low calculated globulin (CG) level, obtained by subtracting albumin from total protein level, is associated with infection risk. We investigated this association among patients with TET. Methods: A cross-sectional retrospective study was performed based on electronic medical records of patients with TET treated during 2002-2024 at a tertiary care institution. For each patient, their lowest CG level and the date of occurrence were identified. The incidence of serious infection requiring hospitalization during 6 months before and 6 months after the index date was recorded. Multivariable Poisson regression models were constructed. Results: Among 101 TET patients, 96 patients (95%) had the information available to derive at least one CG level. The median lowest CG level was 2.65 g/dL (range 1.0-4.2). There were 33 serious infection episodes. Pneumonia was the most prevalent type of infection in 52% of episodes. In a multivariable analysis, a CG level below 2.0 was independently associated with the prevalence of infection with a prevalence ratio of 6.18 (95% CI: 3.12-12.23, p < 0.001). Furthermore, thymectomy was significantly associated with infection. Conclusions: Among patients with TET, a low CG level was associated with an increased prevalence of serious infections. Our limited experiences suggest that it is feasible to derive the CG level for most patients during routine clinical care.

Small bowel cancers: A population-based analysis of epidemiology, treatment and outcomes in Ontario, Canada from 2005-2020

IntroductionSmall bowel cancers are uncommon malignancies comprised of several histologies with variable treatments and prognoses. The current study describes the epidemiology, treatment, and outcomes of a large, population-based cohort of patients with small bowel cancers. MethodsWe performed a retrospective cohort study using linked administrative healthcare data from Ontario, Canada. Patients diagnosed with a small bowel cancer between 2005–2020 were included. Trends in incidence, treatments, and survival were explored by histology (adenocarcinoma, neuroendocrine tumors (NET), gastrointestinal stromal tumors (GIST), and lymphoma). ResultsA total of 5306 patients with small bowel cancers were identified. The most common histologies were NET (40.5 %) and adenocarcinoma (31.6 %). Over the study period the annual incidence of small bowel cancers increased from 1.54 to 2.78 per 100 000 and the likelihoods of receiving surgery and systemic therapy within one year of diagnosis both increased for all histologic subtypes except lymphoma. Median overall survival from diagnosis was 1.0 year for adenocarcinoma, 13.2 years for NET, 14.2 years for GIST, and 10.1 years for lymphoma. There was no trend towards improved median survival for adenocarcinoma by year of diagnosis; 0.94 years (2005–2010), 1.07 years (2011–2015), and 0.98 years (2016–2020). DiscussionSmall bowel cancers are increasing in incidence, with increasing use of surgery and systemic therapies. While survival is favourable for many small bowel cancers, it remains poor for adenocarcinoma. Better availability of cancer stage data and detailed histopathology within the database would facilitate future research. SynopsisThis study of small bowel cancer in Ontario from 2005 to 2020 demonstrated increasing incidence, use of surgery, and systemic treatments. The most common histologies are neuroendocrine tumors and adenocarcinoma, with median survivals of 13.2 and 1.0 years respectively.

Carboplatin and Paclitaxel Chemoradiation for Localized Anal Cancer in Patients Not Eligible for Mitomycin and 5-Fluorouracil.

Although squamous cell carcinoma of the anus (SCCA) is a relatively uncommon malignancy in the United States, it continues to increase in incidence. Treatment for locoregional disease includes mitomycin and 5-fluorouracil with radiation. This combination is associated with significant toxicity, limiting its use in patients who are older or have certain comorbidities. Carboplatin and paclitaxel (C/P) is an accepted treatment regimen for metastatic SCCA. We aim to evaluate the efficacy and toxicity of weekly C/P given with radiation for patients unable to receive standard chemoradiation for SCCA. From our cancer registry, adult patients who received weekly intravenous C/P concurrent with standard-dose radiation for localized SCCA were included in this study. Clinical response was determined based on the evidence of disease on imaging and/or anoscopy. Toxicities were graded according to the CTCAE v5. Ten patients were included; eight were female, and the median age was 75.5 years (54-87). Six had T2 disease, and four had T3 tumors. Four had node-positive disease. The majority (70%) of patients were dosed at standard C (AUC 2) and P (50 mg/m2), with a limited subset requiring dose reduction for baseline performance status. Patients completed a mean of 78.3% (40-100%) of the intended treatments. A total of 89% of the patients achieved a complete clinical response. With a median follow-up of 25.8 months (3.4-50.4 months), 67% of the patients are alive and without recurrence. Two patients have had local recurrence, and one patient had metastatic progression. The most common toxicities of any grade included leukopenia (100%), anemia (100%), radiation dermatitis (100%), diarrhea (100%), and fatigue (100%). Grade 3 or higher toxicities included neutropenic fever (20%), neutropenia (30%), and anemia (30%). This study demonstrates promising tolerability and efficacy for weekly C/P chemoradiation for patients with anal cancer unable to receive mitomycin and 5-fluorouracil. This regimen merits further investigation in prospective clinical trials.

Primary Malignant Melanoma of the Hard Palate: A Rare Case Report

Background: Primary malignant melanoma of the oral cavity is an uncommon and aggressive malignancy with a poor prognosis. The hard palate is a rare site for primary melanoma, and early diagnosis is often challenging due to its asymptomatic nature in the initial stages. Case presentation: We present the case of a 58-year-old female who presented with a pigmented lesion on the right hard palate and a neck mass. The lesion had been present for a year and had gradually increased in size. The neck mass had appeared three months prior and was associated with pain. Imaging and biopsy confirmed the diagnosis of malignant melanoma with cervical lymph node metastasis. The patient underwent wide excision with right hemimaxillectomy and modified radical neck dissection type II, followed by planned postoperative radiation therapy. Conclusion: This case highlights the importance of considering melanoma in the differential diagnosis of pigmented oral lesions. Early diagnosis and aggressive treatment are crucial for improving outcomes in this rare but aggressive malignancy. The use of adjuvant therapies, such as radiation and targeted therapy, may be beneficial in select cases.

Endoscopy-assisted medial canthus incision for olfactory neuroblastoma: a case report

Sinonasal malignant tumors are a group of uncommon malignancies that account for less than 1% of all tumors. These tumors often involve the maxillary sinus and nasal cavity, with less cumulative incidence in the ethmoidal sinus, sphenoidal sinus, and frontal sinus. The lack of consensus on the management of sinonasal malignancies is due to their rarity, diagnostic challenges, and the heterogeneity of treatments. In this paper, we present a case of endoscopic-assisted medial canthus incision combined with radiotherapy in the treatment of sinonasal malignant tumors, with the aim of providing valuable insights to clinicians on the management of these tumors.

Exploring the uncharted: adenoid cystic carcinoma nestled in temporal bone

BackgroundAdenoid cystic carcinoma is an uncommon malignancy primarily arising from salivary glands. An extremely rare site for adenoid cystic carcinoma is the skull base. We report a case of adenoid cystic carcinoma of skull base who presented with common complaints of pain and right ear discharge. The discussion is made with emphasis on imaging evaluation simulating infective etiology with adjacent skull base osteomyelitis. Careful observation of the imaging findings and further evaluation of the patient revealed the neoplastic nature of the lesion with the final diagnosis being adenoid cystic carcinoma.Case presentationA 40-year-old female presented to our department with complaints of pain and right ear discharge since 6 months with progressive, extensive facial swelling and facial nerve palsy. The patient had undergone modified radical mastoidectomy thrice, but the details were not available. On imaging, there was a heterogenous extensive lesion extending from scalp till upper cervical region with extensive destruction of skull base and intra-cranial extension. The possibilities of temporal bone squamous cell carcinoma and extensive skull base osteomyelitis were considered. Further the biopsy of the lesion revealed adenoid cystic carcinoma.ConclusionsExtensive lesions of the skull base can be of infective, neoplastic and inflammatory etiology. Distinguishing between these conditions is crucial, as they have similar imaging characteristics but require different management approaches. The presence of a lesion that displaces or destroys fascial planes, accompanied by solid mass-like enhancement, indicates a higher probability of a neoplastic origin rather than an infectious etiology. With squamous cell carcinoma being the most common neoplasm, adenoid cystic carcinoma of the skull base also needs to be understood due to its propensity for perineural spread and a high likelihood of recurrence.

Sarcomatoid carcinoma of the urinary bladder: a case report

Background: Sarcomatoid carcinoma of the urinary bladder (SCUB) is a rare and aggressive malignancy with limited clinical data due to its infrequency. This case report contributes to the existing knowledge by presenting a patient with SCUB and highlighting the diagnostic workup, treatment course, and clinical outcomes. Case presentation: A 57-year-old man presented with lower urinary tract symptoms and hematuria. Imaging revealed a 4 cm bladder tumor. Transurethral resection of bladder tumor (TURBT) confirmed pT2 sarcomatoid carcinoma. Radical cystoprostatectomy with bilateral pelvic lymphadenectomy and urinary diversion was performed. Pathological examination confirmed SCUB with no lymph node involvement. The patient remains disease-free at two years follow-up. Conclusion: SCUB is an uncommon malignancy with a poor prognosis. Radical cystectomy is the preferred treatment; however, outcomes remain poor. A multimodal approach may offer improved outcomes for locally advanced diseases. Further research is needed to establish more effective treatment strategies.

Primary renal synovial sarcomas diagnosed by a novel fusion gene with the fusion site involving exons of SS18 and SSX2: a case report

Abstract Objectives Primary renal synovial sarcoma (PRSS) is an uncommon malignancy with diagnostic challenges and poor prognosis. Research on PRSS is limited, primarily based on case reports, leading to a lack of widely recognized effective treatment options. This article reports a case of primary renal synovial sarcoma diagnosed using a novel fusion gene with a fusion site involving the SS18 and SSX2 exons. Case presentation A 34-year-old male, presented with intermittent right upper abdominal pain. Abdominal CT revealed an isolated mass in the upper pole of the right kidney, which was initially diagnosed as renal cell carcinoma. The patient underwent radical right nephrectomy, and postoperative histopathological examination confirmed the diagnosis of synovial sarcoma, and immunohistochemistry supported the diagnosis. Further detection through RT-PCR and DNA sequencing confirmed the presence of the SS18-SSX2 fusion gene. Despite the recommendation for adjuvant therapy, the patient refused chemotherapy and other treatments and succumbed to systemic metastasis. Conclusions This case highlights the diagnostic challenges and aggressive nature of PRSS. The novel fusion gene with the fusion sites SS18: exon9 and SSX2: exon5 has important implications for the diagnosis of primary synovial sarcoma of the kidney. Further research is warranted to explore novel therapeutic strategies and improve patient outcomes in PRSS.

Case Report: Metachronous intussusception: A complex case report of small intestinal adenocarcinoma

Small intestinal adenocarcinomas, comprising less than 5% of digestive cancers, present diagnostic and therapeutic intricacies often overshadowed by more common digestive malignancies. This report highlights the unique metachronous characteristic of the case, emphasizing the presence of intussusception, to contribute valuable knowledge and refine medical approaches for optimizing outcomes in these rare and complex scenarios. A 73-year-old male, previously operated for right colon adenocarcinoma, developed metachronous liver metastasis a year later, successfully treated. Presenting with acute intestinal obstruction, imaging confirmed mechanical obstruction, prompting small intestine resection and stoma creation. The postoperative phase, characterized by meticulous care, ensures ongoing close oncological follow-up for this complex medical journey, with the added complication of intussusception. Amid the rarity of small intestinal adenocarcinomas in digestive cancers, our unique case sheds light on the challenges in diagnosis and treatment, particularly highlighting the presence of intussusception. The distinctive approach of small intestine resection and stoma creation underscores ongoing debates on adjuvant chemotherapy, reflecting an evolving management landscape. This underscores the crucial role of continuous research and multidisciplinary strategies in optimizing outcomes for patients facing this uncommon malignancy complicated by intussusception. This report provides valuable insights into the complexities of diagnosing and managing small intestinal adenocarcinomas, particularly when complicated by intussusception. As we navigate this nuanced medical terrain, continuous research and multidisciplinary approaches remain pivotal for refining our understanding and optimizing outcomes in small intestinal adenocarcinomas.

A Review of Endobronchial-Ultrasound-Guided Transbronchial Intranodal Forceps Biopsy and Cryobiopsy.

Benign and malignant mediastinal lesions are not infrequently encountered in clinical practice. Mediastinoscopy has long been considered the gold standard in evaluating mediastinal pathology. Since its introduction into clinical practice, endobronchial-ultrasonography-guided transbronchial fine needle aspiration (EBUS-TBNA) has replaced mediastinoscopy as the initial procedure of choice to evaluate mediastinal lesions and to stage lung cancer. Its diagnostic yield in benign mediastinal lesions and less common malignancies, however, has remained limited. This has led different proceduralists to investigate additional procedures to improve the diagnostic yield of EBUS-TBNA. In recent years, different published reports concluded that the addition of EBUS-guided intranodal forceps biopsy (IFB) and transbronchial cryobiopsy (TBCB) to EBUS-TBNA increases the diagnostic yield especially in benign mediastinal lesions and uncommon mediastinal malignancies. The purpose of this review is to describe how EBUS-IFB and EBUS-TBCB are performed, to compare their diagnostic yields, and to discuss their limitations and their potential complications. In addition, the review will conclude with a proposed algorithm on how to incorporate EBUS-IFB and EBUS-TBCB into clinical practice.

Abstract PO4-16-04: Decoding the immune landscape of breast cancer (BC) during pregnancy (PrBC): Impact of hormone receptors (HR) and tumor-infiltrating lymphocytes (TILs) phenotype on gene expression signatures

Abstract Introduction: PrBC is an uncommon malignancy with aggressive behavior. Its pathogenesis involves distinct immune mechanisms associated with maternal-fetal tolerance and tumor-host immunoediting. PrBC displays specific patterns of TILs with increased CD8+ cells. Gaining a comprehensive understanding of the molecular processes underlying this immune synergy is crucial for enhancing PrBC patients’ clinical management. Here, we sought to identify dysregulated immune-related genes in PrBC and explore their association with HR status and TILs. Methods: A total of n=75 PrBC (age range 26-43 years) and n=67 age-matched early-onset breast cancer (EOBC) in non-pregnant women (controls; age range 28-43 years) were selected from our Institutional registry. For all cases TILs were quantified according to the International TILs Working Group recommendations and profiled by IHC for CD4 and CD8. RNA was extracted from representative FFPE tissue blocks to perform the expression analysis of 395 genes involved in tumor-immune interactions using a targeted NGS panel (Oncomine™ Immune Response Research Assay, Thermofisher). Samples with &amp;gt;1,000,000 mapped reads and &amp;gt;800,000 valid reads were considered adequate. R package DESeq2 software 1.38.3 was used for sequencing depth differences normalization and differential gene expression analysis. Differentially expressed genes (DEGs) were identified based on a significant p-value (p&amp;lt; 0.05). Results: The comparison between PrBC and EOBC revealed a total of n=7 DEGs. All of these genes were upregulated and belonged to distinct superfamilies, including Cancer/Testis (CT) Antigen (MAGEA1/3, XAGE1B), Interferons/Cytokines (IFNA17, IFNB1), Chemokines (CXCL13), and Immunoglobulin (PECAM1/CD31). Notably, the upregulation of Chemokines in respect to EOBC was observed exclusively in HR+ PrBC, whereas triple-negative (TN) PrBC did not exhibit this pattern compared to the control group. Hence, the upregulation of ALOX15B, an enzyme involved in fatty acid peroxidation, was specific to TN PrBC. The immune signatures showed significant variations between PrBC and EOBC also based on TILs density and subpopulations. Indeed, the upregulation of CT genes (MAGEA1, XAGE1B) was exclusively observed in PrBC cases characterized by low TILs levels and prevalence of CD8+ or CD4+ cells. Finally, CD4+ TILs were absent or low in PrBC with upregulated Interferons, Cytokines, Chemokines, and Immunoglobulin genes, but present in cases with increased expression of CT and KLRF1 (NK cells). Conclusion: These findings highlight the heterogeneity and distinct molecular characteristics of PrBC and EOBC. The upregulation of specific immune-related gene families, such as CT and Chemokines, in different PrBC subtypes may suggest their potential role as actionable biomarkers (e.g. MAGEA, a well-known oncogene and potential immunotherapy target). The differences in immune signatures and TILs subpopulations further emphasize the importance of the immune microenvironment in PrBC biology and behavior. Future studies could delve deeper into the clinical implications of these gene expression patterns and explore their relevance in personalized treatment strategies for PrBC. Citation Format: Konstantinos Venetis, Elham Sajjadi, Chiara Frascarelli, Mariia Ivanova, Marianna D'Ercole, Concetta Blundo, Massimo Giroda, Eugenia Di Loreto, Giovanna Scarfone, Stefano Ferrero, Paolo Veronesi, Viviana Galimberti, Fedro Alessandro Peccatori, Nicola Fusco, Elena Guerini-Rocco. Decoding the immune landscape of breast cancer (BC) during pregnancy (PrBC): Impact of hormone receptors (HR) and tumor-infiltrating lymphocytes (TILs) phenotype on gene expression signatures [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO4-16-04.

HER2-low and Overexpression in Mucinous Ovarian Cancer: Analysis of ASCO/CAP and ToGA Immunohistochemical Scoring.

Mucinous ovarian carcinoma is an uncommon malignancy characterized by resistance to chemotherapy and poor survival in the metastatic setting. HER2 amplification is a frequent late event in carcinogenesis, yet the incidence of HER2-low in mucinous ovarian carcinoma is unknown. Further, the optimal method for determining overexpression in these tumors is not established. We sought to assess the ASCO/CAP and ToGA trial scoring methods for HER2 IHC with correlation to FISH, p53, and mismatch repair protein status and to determine the incidence of HER2-low in mucinous ovarian carcinoma. A total of 29 tumors from 23 patients were included. Immunohistochemistry for HER2, p53, MLH1, PMS2, MSH2, and MSH6 was performed. Scoring was performed according to the ASCO/CAP and ToGA trial criteria. HER2 FISH was performed and scored according to the ASCO/CAP criteria. The proportion of HER2-low, defined as 1+ or 2+ staining with negative FISH, was determined. Using ASCO/CAP, 26% demonstrated 3+ while 35% demonstrated 2+ staining. Using ToGA, 30% demonstrated 3+ while 57% demonstrated 2+ staining. By FISH, 26% were positive for HER2 amplification. Both systems captured all FISH-positive cases; the use of ASCO/CAP resulted in fewer equivocal and false-positive cases. Among HER2-negative cases, 88% were HER2-low. Aberrant p53 expression was detected in 55% of cases; mismatch repair deficiency was not identified in any cases. ASCO/CAP guidelines are accurate and resource-effective in determining HER2 overexpression in mucinous ovarian carcinoma. HER2-low is common in these tumors; further studies to determine the role of HER2-targeted therapy including antibody-drug conjugates are indicated.

Personalized Approach to Olfactory Neuroblastoma Care.

Olfactory neuroblastoma (ONB) is an uncommon neuroendocrine malignancy arising from the olfactory neuroepithelium. ONB frequently presents with nonspecific sinonasal complaints, including nasal obstruction and epistaxis, and diagnosis can be obtained through a combination of physical examination, nasal endoscopy, and computed tomography and magnetic resonance imaging. Endoscopic resection with negative margins, with or without craniotomy, as necessary, is the standard of care for definitive treatment of ONB. Regional metastasis to the neck is often detected at presentation or may occur in a delayed fashion and should be addressed through elective neck dissection or radiation. Adjuvant radiotherapy should be considered, particularly in the case of high grade or tumor stage, as well as positive surgical margins. Systemic therapy is an area of active investigation in both the neoadjuvant and adjuvant setting, with many advocating in favor of induction chemotherapy for significant orbital or intracranial involvement prior to surgical resection. Various targeted immunotherapies are currently being studied for the treatment of recurrent or metastatic ONB. Prolonged locoregional and distant surveillance are indicated following definitive treatment, given the tendency for delayed recurrence and metastasis.

Update on olfactory neuroblastoma.

Olfactory neuroblastomas are uncommon malignancies that arise from olfactory receptor cells located high in the nasal cavity. Accurate diagnosis plays a crucial role in determining clinical results and guiding treatment decisions. Diagnosis can be a major challenge for pathologists, especially when dealing with tumours with poor differentiation. The discovery of several molecular and immunohistochemical markers would help to overcome classification difficulties. Due to the paucity of large-scale studies, standardisation of diagnosis, treatment and prediction of outcome remains a challenge. Surgical resection by endoscopic techniques with the addition of postoperative irradiation is the treatment of choice. In addition, it is advisable to consider elective neck irradiation to minimise the risk of nodal recurrence. Molecular characterisation will help not only to make more accurate diagnoses but also to identify specific molecular targets that can be used to develop personalised treatment options tailored to each patient. The present review aims to summarise the current state of knowledge on histopathological diagnosis, the molecular biology and management of this disease.

Systematic Review of Preoperative Prognostic Biomarkers in Perihilar Cholangiocarcinoma.

Perihilar cholangiocarcinoma (pCCA) is an uncommon malignancy with generally poor prognosis. Surgery is the primary curative treatment; however, the perioperative mortality and morbidity rates are high, with a low 5-year survival rate. Use of preoperative prognostic biomarkers to predict survival outcomes after surgery for pCCA are not well-established currently. This systematic review aimed to identify and summarise preoperative biomarkers associated with survival in pCCA, thereby potentially improving treatment decision-making. The Embase, Medline, and Cochrane databases were searched, and a systematic review was performed using the PRISMA guidelines. English-language studies examining the association between serum and/or tissue-derived biomarkers in pCCA and overall and/or disease-free survival were included. Our systematic review identified 64 biomarkers across 48 relevant studies. Raised serum CA19-9, bilirubin, CEA, neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR) and tumour MMP9, and low serum albumin were most associated with poorer survival; however, the cutoff values used widely varied. Several promising molecular markers with prognostic significance were also identified, including tumour HMGA2, MUC5AC/6, IDH1, PIWIL2, and DNA index. In conclusion, several biomarkers have been identified in serum and tumour specimens that prognosticate overall and disease-free survival after pCCA resection. These, however, require external validation in large cohort studies and/or in preoperatively obtained specimens, especially tissue biopsy, to recommend their use.

Primary Primary Cutaneous Mucinous Carcinoma – A Case Report

Primary mucinous carcinoma of the skin is an uncommon malignancy of sweat gland origin. It is usually misdiagnosed clinically because of its benign appearance. On histological examination, it should be differentiated from metastatic mucinous carcinomas arising elsewhere in the body. We present a case of a 77-year-old male presenting with a swelling on the face, which was diagnosed clinically as a benign lesion, but on histological examination, it was diagnosed as mucinous carcinoma, and after thorough investigations, it was labelled as primary mucinous carcinoma of the skin.