Primary angiosarcoma of the Pancreas - A case Report and review of the literature.

BACKGROUND: Angiosarcomas are malignant neoplasms that originate from endothelial cells. The symptoms exhibit a non-specific nature, and achieving a preoperative diagnosis is frequently challenging. They are seldom encountered in the abdomen, and their occurrence in the pancreas is even rarer. METHODS: Here we document a 67-year-old man with pancreatic angiosarcoma and analyse the literature to outline the clinicopathologic characteristics of this rare phenomenon. RESULTS: This patient with family history of pancreas cancer presented with abdominal pain, and the CT-scan revealed a 4 cm mass at the neck of the pancreas but CA19-9 was normal. Radiologic findings were unusual for ordinary pancreas cancer. Fine-needle aspiration biopsy through endoscopic ultrasound revealed "undifferentiated malignant cells for which the diagnosis of "carcinoma" was favoured. Total pancreatectomy, splenectomy and portal vein reconstruction were performed and epithelioid angiosarcoma were diagnosed. Despite an uneventful postoperative period, discharge on postoperative day 8 without any complications, as well as diligent post-discharge clinical care, the patient died 65 days postoperatively, attributed to the presence of extensive metastasis. A comprehensive literature search has identified a limited number of documented cases of primary pancreatic angiosarcoma, with only ten cases reported to date. CONCLUSIONS: Pancreatic angiosarcomas are very rare and prone to misdiagnosis. The formation of a more demarcated but high-grade tumour with necrosis is a feature that distinguishes angiosarcomas from ordinary carcinomas of this organ. Pathologic diagnosis is also highly challenging closely resembling undifferentiated carcinomas. Angiosarcomas are highly aggressive when they occur in the pancreas. Prompt diagnosis at an early stage is crucial as surgery with curative intent serves as the primary treatment approach.

Surgery with curative intent is the mainstay treatment for pancreatic angiosarcoma when diagnosed at an early stage.Oncological treatment options should be taken into consideration according to the follow-up data.Why does this paper matter?This article is important in that it is the most comprehensive review of the literature on pancreatic angiosarcoma, which is a very rare pathology, from the perspective of radiology, pathology and surgery.

Mesenchymal tumours of the gastrointestinal tract.

Mesenchymal tumours represent a heterogenous group of neoplasms encopassing benign, intermediate malignancy, and malignant entities. Sarcomas account for approximately 1% of human malignancies. In consideration of their rarity as well as of intrinsic complexity, diagnostic accuracy represents a major challenge. Traditionally, mesenchymal tumours are regarded as lesions the occurrence of which is mostly limited to somatic soft tissues. However, the occurrence of soft tissue tumours at visceral sites represent a well recognized event, and the GI-tract ranks among the most frequently involved visceral location. There exist entities such as gastrointestinal stromal tumours (GIST) and malignant gastointestinal neuroectodermal tumors that exhibit exquisite tropism for the GI-tract. This review will focus also on other relevant clinico-pathologic entities in which occurrence at visceral location is not at all negligible.

Ectopic GH-secreting pituitary adenoma of the clivus: systematic literature review of a challenging tumour.

PURPOSE: Acromegaly is usually due to growth hormone (GH)-secreting pituitary adenomas, but it may be exceptionally caused by GH-secreting ectopic pituitary adenomas (EPA). EPA are defined as extra-sellar pituitary tumours, extra- or intra-cranially sited, entirely separated from the pituitary stalk and gland. The aim of the study is to address the challenges in the management of clival GHEPA. METHODS: We reported a case of a 53-year-old acromegalic patient with a primary clival GHEPA and reviewed systematically the relevant English literature between 1975 and 2019, in keeping with the PRISMA guidelines. RESULTS: Four cases of primary clival GHEPA have been described in literature apart from ours. All patients presented with acromegalic features, elevated circulating GH and/or insulin-like growth factor-1 levels. Hyperprolactinemia and empty sella were described in two cases, respectively. These tumours show the typical imaging characteristics of pituitary adenomas, but their neuroradiological diagnosis may be challenging due to their sizes and the difficulty in defining the absence of connections with the pituitary fossa. CONCLUSION: Although primary clival GHEPA are exceedingly rare, even if likely under-reported in literature, they should be considered in the differential diagnosis of clival tumours because of their specific management. Surgery represents the first-line treatment option, while medical and radiation therapies can be adopted as neo-adjuvant, adjuvant or primary treatments according to tumour and patient characteristics.

Rare Tumours of the Testis: Twelve Years of Experience.

Rare tumours of the testis includes a wide variety of tumours. We aim to present clinical and histological characteristics of our patients with rare tumours of the testis. The medical records of 33 patients who were treated and followed-up for testicular rare tumours in our center between 2007 and 2020 were retrospectively reviewed. Of all the 243 testicular tumours, 222 cases (91.4%) were germ cell tumours and 21 cases (8.6%) were non-germ cell tumours. Thirty-three rare tumours of the testis including rare germ cell tumours and non-germ cell tumours were detected. The mean age of the patients at diagnosis was 34 years (range 18-68 years). The histological types of rare testicular tumours were as follows: teratoma 4.5% (n=11), sex-cord stromal tumours 4.5% (n=11), paratesticular tumours 3.2% (n=8), and the others [lymphoma 0.4% (n=1), mesothelioma 0.4% (n=1) and choriocarcinoma 0.4% (n=1)]. The median duration of follow-up was 32 months (range 1 to 256 months). None of the patients with non-metastatic disease stage developed recurrence after having received appropriate therapy. Metastatic disease was documented in 9 cases at the time of diagnosis (five patients with teratomas, two patients with Leydig cell tumour, one patient with choriocarcinoma and rhabdomyosarcoma). The most common subtypes of testicular rare tumours in our center was teratoma and sex-cord stromal tumours. Because of testicular rare tumours have different biological features and different clinical outcomes, the management of each tumour requires a different approach.

Primary malignant ossifying fibromyxoid tumour of the bone. A clinicopathologic and molecular report of two cases.

OBJECTIVE: To report the exceptional occurrence of ossifying fibromyxoid tumour (OFMT) as a primary bone lesion. OFMT is a rare soft tissue tumour of uncertain differentiation and variable malignant potential, that occurs in adults with a slight male predominance. It is typically located in the subcutis or in the skeletal muscles of the extremities, followed by trunk or head and neck. METHODS: Two cases of OFMT proven to arise from bone are presented. The first is a 65-year old female with a history of rib "osteosarcoma", presenting with an inferior lobe left lung mass. The second is a man with a lytic lesion of the 5th cervical vertebra that recurred shortly after resection. Following H&E and immunohistochemical examination, tumour samples were analysed by NGS and by break-apart FISH to detect rearrangement of the PHF1 and TFE3 genes. RESULTS: PHF1 gene-rearrangement was identified by FISH on both the primary and the metastatic lesion of first patient. NGS identified a PHF1(intron1) and EPC1 (exon 10) fusion transcript later confirmed by positive PHF1 rearrangement on FISH in the second case. CONCLUSIONS: The demonstration of PHF1 gene rearrangements represents a fundamental ancillary diagnostic test when presented with challenging examples of OFMT.

Isolated limb perfusion as a treatment option for rare types of tumours.

BACKGROUND: Isolated limb perfusion (ILP) is an established and effective treatment for advanced melanoma and soft tissue sarcomas of the extremities with a high overall response rate. The aim of this study was to describe our experience of ILP for more rare types of tumours. METHODS: Patients with Merkel cell carcinoma (MCC) (n = 4), squamous cell carcinoma (SCC) (n = 2), B-cell lymphoma (n = 1), desmoid tumours (n = 3), pigmented villonodular synovitis (PVNS) (n = 1) and giant cell tumour (n = 1) were treated with ILP and analysed retrospectively. RESULTS: The four patients with in-transit MCC had three complete responses (CR) and one partial response (PR); the two patients with SCC had one CR and one stable disease (SD); the patients with desmoid tumours had two PR and one SD. A CR was also observed for the patient with a giant cell tumour, but the patient with PVNS had a SD. The patient with cutaneous metastases of B-cell lymphoma showed a CR, however with rapid systemic progression. Local toxicity according to Wieberdink was grade II in 10 patients (83%) and grade III in two patients (17%). CONCLUSIONS: These results show that ILP can be used as a treatment option also for more rare disease entities when other treatments have failed.

Multiple myeloma as a mandibular primary - Dilemma in diagnosing rare tumours of the mandible.

Multiple myeloma (MM) is a plasma cell malignancy, and its typical radiographic presentation includes punched-out radiolucency of the skull. It is a bourgeois description of myeloma and often holds good in most cases. However, the diagnosis can get tricky when a patient walks into the clinic with non-specific signs and symptoms. Many suspicions arise when we examine a well-defined mandibular swelling, but the real picture is revealed with thorough screening. This article presents a rare mandibular swelling diagnosed as MM, emphasizing important differential diagnoses for maxillofacial surgeons and pathologists.

Paediatric very rare tumours registration and management in European countries with low health expenditure average rates.

PURPOSE: Within the Paediatric Rare Tumours Network-European Registry (PARTNER) project, we aimed to evaluate the situation on the registration and management of paediatric patients affected by very rare tumours (VRT) in the European low health expenditure average rates (LHEAR) countries. METHODS: A survey regarding infrastructure, organisation, and clinical decision-making information on VRT was designed. This survey was distributed to the representatives of LHEAR countries involved in the activities of the PARTNER Work Package 7. RESULTS: Eighteen answers from 17 countries were collected regarding the national organisation, methods of registration of VRT cases, the availability of medical experts in VRT, the access to updated diagnostic and therapeutic procedures (such as proton therapy, immunotherapy and, targeted therapies), and research on paediatric VRT. A high variability in the registration and management of patients with VRT has been observed with additional wide inequalities in pathology review, uniformity of clinical decisions, availability of selected procedures, and diagnostic and research tools. CONCLUSION: In the majority of LHEAR countries, no clinical or research structures have been implemented for children and adolescents with VRT. Therefore, VRT still have an orphan status in these countries. These significant differences on the technology access and use between European regions need to be addressed.

Neuroendocrine Carcinoma of the Hypopharynx - An Elusive Clinical Rarity.

Neuroendocrine carcinoma originating from neuroendocrine cells is typically linked to unfavourable survival rates. We are introducing an exceptional case of neuroendocrine carcinoma occurring in the hypopharynx. To date, only a handful of instances involving primary neuroendocrine carcinoma of the hypopharynx have been documented. Advanced age, being male, a history of chronic alcoholism, smoking, and previous radiation are all risk factors associated with this condition. The majority of patients present with distant metastases and are not amenable to a complete cure. As there are no guidelines for the treatment of this rare tumour, various treatment modalities have been tried. Here, we are reporting one such case which was diagnosed as small-cell neuroendocrine carcinoma of the hypopharynx on the basis of histopathological cues and received concurrent chemoradiotherapy.

Gemcitabine plus platinum-based chemotherapy in combination with bevacizumab for kidney metastatic collecting duct and medullary carcinomas: Results of a prospective phase II trial (BEVABEL-GETUG/AFU24).

BACKGROUND: Renal medullary carcinoma (RMC) and collecting duct carcinoma (CDC) are rare entities with a poor outcome. First-line metastatic treatment is based on gemcitabine + platinum chemotherapy (GC) regimen but retrospective data suggest enhanced anti-tumour activity with the addition of bevacizumab. Therefore, we performed a prospective assessment of the safety and efficacy of GC + bevacizumab in metastatic RMC/CDC. METHODS: We conducted a phase 2 open-label trial in 18 centres in France in patients with metastatic RMC/CDC and no prior systemic treatment. Patients received bevacizumab plus GC up to 6 cycles followed, for non-progressive disease, by maintenance therapy with bevacizumab until progression or unacceptable toxicity. The co-primary end-points were objective response rates (ORRs) and progression-free survival (PFS) at 6 months (ORR-6; PFS-6). PFS, overall survival (OS) and safety were secondary end-points. At interim analysis, the trial was closed due to toxicity and lack of efficacy. RESULTS: From 2015 to 2019, 34 of the 41 planned patients have been enroled. After a median follow-up of 25 months, ORR-6 and PFS-6 were 29.4% and 47.1%, respectively. Median OS was 11.1 months (95% confidence interval [CI]: 7.6-24.2). Seven patients (20.6%) discontinued bevacizumab because of toxicities (hypertension, proteinuria, colonic perforation). Grade 3-4 toxicities were reported in 82% patients, the most common being haematologic toxicities and hypertension. Two patients experienced grade 5 toxicity (subdural haematoma related to bevacizumab and encephalopathy of unknown origin). CONCLUSION: Our study showed no benefit for bevacizumab added to chemotherapy in metastatic RMC and CDC with higher than expected toxicity. Consequently, GC regimen remains a therapeutic option for RMC/CDC patients.

Different clinocopathological presentations of steroid cell tumour - Report of three rare cases.

INTRODUCTION AND IMPORTANCE: We present three cases of steroid cell tumour due to their rarity, their differing clinical presentations and the distinct pathology. CASE PRESENTATION: Case 1: A 50-year-old female presented with heavy menstrual bleeding. Adenomyosis and multiple leiomyomata were found along with an incidental 2.5mm, paratubal steroid cell tumour. Given the size of the tumour and the histopathological features this was considered benign. Case 2: A 69-year-old female patient presented with virilization, found to have a left ovarian steroid cell tumour. Since there was capsular infiltration, close follow up was advised. Case 3: A 35-year-old female patient presenting with an acute abdomen due to torsion of a 15 cm right ovarian mass. The mass showed immunomorphological features of a steroid cell tumour. Since this tumour was large and had features of necrosis, high mitotic activity and nuclear pleomorphism, it was regarded as malignant. CLINICAL DISCUSSION: Steroid cell tumours of the ovary are rare (<0.1 % of all ovarian neoplasms) with uncertain malignant behaviour and are difficult to diagnose especially if classical virilising symptoms are absent. CONCLUSION: Thorough histopathological analysis and immunohistochemistry are essential in arriving at a definite diagnosis when the classical presentation is absent.

Challenging gestational trophoblastic disease cases and mimics: An exemplar for the management of rare tumours.

OBJECTIVE: Rare tumour management is challenging for clinicians as evidence bases are limited and clinical trials are difficult to conduct. It is even more difficult for patients where self-reliance alone is insufficient to overcome the challenges of navigating care which is often poorly evidence based. In Ireland, a national Gestational Trophoblastic Disease (GTD) service was established as one of 3 initiatives for rare tumours by the National Cancer Control Programme. The service has a national clinical lead, a dedicated supportive nursing service and a clinical biochemistry liaison team. This study sought to assess the impact of a GTD centre using national clinical guidelines and integrating and networking with European and International GTD groups on the clinical management of challenging GTD cases and to consider the application of this model of care to other rare tumour management. STUDY DESIGN: In this article, we analyse the impact of a national GTD service on five challenging cases, and review how the service affects patient management in this rare tumour type. These cases were selected from a cohort of patients who were voluntarily registered in the service based on the diagnostic management dilemma they posed. RESULTS: Case management was impacted by the identification of GTD mimics, the provision of lifesaving treatment of metastatic choriocarcinoma with brain metastasis, networking with international colleagues, the identification of early relapse, the use of genetics to differentiate treatment pathways and prognosis, and supportive supervision of treatment courses of up to 2 years of therapy in a cohort of patients starting or completing families. CONCLUSION: The National GTD service could be an exemplar for the management of rare tumours (such as cholangiocarcinoma) in our jurisdiction which could benefit from a similar constellation of supports. Our study demonstrates the importance of a nominated national clinical lead, dedicated nurse navigator support, registration of cases and networking. The impact of our service would be greater if registration was mandatory rather than voluntary. Such a measure would also ensure equity of access for patients to the service, assist in quantifying the need for resourcing and facilitate research to improve outcomes.

A decade in focus: mixed germ cell tumors with choriocarcinoma components.

Introduction: This 10-year registry review aimed to investigate the clinical behaviour and outcomes of mixed germ cell tumours with choriocarcinoma components, a rare and aggressive subtype of testicular cancer, in Saudi Arabia. The study explores the demographic characteristics of affected patients, tumour profiles, and the mortality rate associated with this malignancy. Methods: Utilizing data from the Saudi Cancer Registry, the authors identified 33 cases of mixed germ cell tumours with choriocarcinoma components among 1001 testicular cancer cases recorded between 2008 and 2017. Demographic information, including age, marital status, region of residency, year of diagnosis, and 10-year survival status, were collected. Tumour factors, such as the basis of diagnosis, origin site, behaviour, grade, extension, and laterality, were also analyzed. Results: The majority of cases (78.8%) occurred in the young age group (18-45 years), and most tumours (97%) originated in normally descended testes. Grade IV (undifferentiated anaplastic) tumours and distant metastasis were present in 45.5% of patients. All cases exhibited malignant tumour behaviour. The overall mortality rate was 15%, with a mean time from diagnosis to death of 7.72 months (range: 0.5-21.5 months). Conclusion: Mixed germ cell tumours with choriocarcinoma components are rare and tend to affect younger populations. These tumours demonstrate aggressive clinical behaviour, with a significant proportion presenting with high-grade lesions and metastasis at diagnosis. The observed mortality rate underscores the poor prognosis associated with this malignancy. Our study provides essential insights into the clinical characteristics of this rare tumour subtype in the Saudi Arabian population, emphasizing the need for further research to identify prognostic factors and optimize management strategies for affected patients.

Cervical PEComa: Challenges in diagnosis and prognosis of a rare neoplasm.

•Cervical PEComas are rare neoplasms which present a diagnostic challenge.•Large tumour size is an important clinical prognosticator in cervical PEComa.•All reported cases of cervical PEComa classified as benign by Folpe criteria behaved in benign fashion clinically.•Tumours ≤ 4 cm may be assessed with cone biopsy, and simple hysterectomy considered if no adverse pathologic features.•Molecular characterization and linkage with coordinated rare tumour registries may identify novel treatments.

Rare tumours of the bladder: A Saudi registry based descriptive study.

Objective: There is limited literature focusing on the characteristics and behaviours of bladder tumours outside of the common three morphologies, that is, urothelial carcinoma, squamous cell carcinoma, and adenocarcinoma. The presented study provides a descriptive analysis of rare bladder tumours in KSA. Methods: This retrospective cohort study included all patients with a primary rare bladder tumour between 1 January 2008 and 31 December 2017. The data were acquired from the Saudi Tumour Registry. Frequencies and percentages were then generated for the categorical variables, while means and standard deviations were calculated for quantitative variables. Results: The study included 65 patients. The majority (n = 35, 53.8%) were aged 60 years and older. The patients were predominantly male (n = 53, 81.5%) and the majority lived in the Western region (n = 26, 40.?%). The most diagnosed tumour morphologies were small cell carcinoma in adults (n = 11, 16.9%) and embryonal rhabdomyosarcoma in children (n = 14, 21.5%), with the dominant diagnosis method being histology of primary tumour in 98.5% of the patients. Most tumours were localised (n = 30, 46.2%) and multifocal (n = 34, 52.3%). The overall mortality rate was 24.6%, with an overall diagnosis to death interval of 1.14 ± 0.75 years wherein small cell carcinoma was the shortest (0.84 ± 0.24) days. Conclusion: There remains a gap in the literature regarding uncommon urologic tumours. Shedding light on these factors will aid in further understanding the patterns of tumour behaviour in the region. This will facilitate enhanced risk-and response-based screening strategies and more favourable outcomes. Additionally, formulating a global registry for such patients is recommended.

Papillary Meningioma: Case Presentation with Emphasis on Surgical and Medical Therapy of a Rare Variant of Meningioma.

Meningioma is one of the most frequent neoplasms of all in the central nervous system. Different variants are known, and of these some have peculiar characteristics, both from a morphological point of view and from a biological point of view. Here, we present a rare case of relapsed papillary meningioma in a young patient, focusing on histological characteristics, medical-surgical therapy and focusing on the risk of progression and/or recurrence of the lesion if not completely eradicated. Finally, we provide detailed molecular characteristics of the case in question.

Pancreatic solid pseudopapillary neoplasm: a single-institution study.

BACKGROUNDS: Solid pseudopapillary neoplasms (SPNs) are a distinct but rare form of low-grade pancreatic neoplasia, accounting for 0.3%-2.7% of all pancreatic tumours. They are most common in young females. Local recurrence and distant metastasis are reported but extremely rare, and are usually resectable with curative intent. We report the clinicopathological features and long-term outcomes of SPNs following surgical resection from a single institution. METHODS: A total of 1296 patients undergoing pancreatic resection during the 30 years period from 1991 to 2020 were retrospectively reviewed, and those with a confirmed pathological diagnosis of pancreatic SPN on review were included. RESULTS: Twenty-two patients (1.7% of all patients undergoing resection), were identified. Twenty patients (91%) were female. Unlike previous studies, most patients (91%) were symptomatic at diagnosis. On diagnostic CT, cystic components were visible in 16 patients (73%), calcifications were found in two patients (9%), haemorrhage in one patient (5%) and a defined capsule was seen in four patients (18%). Surgical resection was undertaken on all cases, with distal pancreatectomy the most commonly performed (n = 11, 50%). One patient (4.7%) had nodal involvement, nine patients had an incomplete tumour capsule (41%) and seven patients (32%) had tumour extension into the pancreatic parenchyma. Despite this, no patients had disease recurrence at 10 years. One patient died within 5 years of heart failure unrelated to the SPN process; no patients died within 10 years of the disease. CONCLUSION: We confirm a high proportion of female patients. Interestingly, a high proportion of our cohort was investigated for symptomatic disease. Despite a high proportion of tumours with an incomplete capsule, and extension into the pancreatic parenchyma, our findings indicated that SPN patients have excellent survival after margin-negative surgical resection.

Efficacy of Immune Checkpoint Inhibitors in Rare Tumours: A Systematic Review.

Background: Rare cancers, as defined by the European Union, occur in fewer than 15 out of 100,000 people each year. The International Rare Cancer Consortium defines rare cancer incidence as less than six per 100,000 per year. There is a growing number of reports of the efficacy of immune checkpoint inhibitor (ICI) therapy in patients with rare tumours, and hence, we conducted a comprehensive review to summarise and analyse the available literature. Methods: A literature search of PubMed was performed on January 31, 2021, using the following ICI names as keywords: ipilimumab, tremelimumab, cemiplimab, nivolumab, pembrolizumab, avelumab, atezolizumab, and durvalumab. Studies on patients with rare tumours who were being treated with ICIs were included. We plotted the overall response rate against the corresponding median survival across a variety of cancer types using linear regression. Results: From 1,255 publications retrieved during the primary search, 62 publications were selected (with a total of 4,620 patients). Only four were randomised trials. A minority were first-line studies, while the remaining were studies in which ICIs were delivered as salvage therapy in pretreated patients. There was a good correlation between response rate and overall survival (Spearman R2 >0.9) in skin cancers, mesothelioma, and sarcomas. Conclusions: Treatment of advanced-stage rare tumours with ICI therapy was found to be associated with significant activity in some orphan diseases (e.g., Merkel cell carcinoma) and hepatocellular carcinoma. Several ongoing prospective clinical trials will expand the knowledge on the safety and efficacy of ICI therapy in patients with these rare cancers.

A RARE CASE OF A RETROPERITONEAL LEIOMYOMATOSIS.

Leiomyomas are mostly located in the uterus.Retroperitoneal presentation of leiomyomas are rare and have a greater diagnostic challenge.Because retroperinoteal tumours are quite rare and mostly malignant. Therefore, differantial diagnosis is difficult.We report a rare case of retroperitoneal leiomyomatosis, in which there were concurrent leiomyomas in uterus, pelvic and paraaortic regions that are adjacent to pelvic and paraaortic vascular structures.The patient underwent type 1 hysterectomy and bilateral salpingo-oophorectomy and had a total excision of the myomas from adjacent structures. Histological examination of the surgical specimen revealed that leiomyoma. She has been disease -free for 24 months now.

Individualized robotic organ-sparing surgery in a paediatric case of renal perivascular epithelioid cell tumour.

BACKGROUND: Perivascular epithelioid cell tumours (PEComas) represent a rare group of mesenchymal tumours with an unpredictable outcome. They are usually observed in middle-aged women whilst they are very rare in children, with limited cases described. Due to the rare anatomical location in kidneys, a correct diagnosis and treatment is really challenging. METHODS: We observed and treated a case of kidney's PEComa in a 14-year-old boy. RESULTS: An individualized approach based on anatomical (3D CT-reconstructions) and histopathological (US-guided preliminary biopsy) features lead us to perform a successful robotic-sparing surgery enabling the preservation of two-thirds of the kidney involved. CONCLUSIONS: A meticulous preoperative planning in selected patients can lead to a minimally invasive approach even in some paediatric kidney's neoplasms.