Rare Malignant Tumor Research Articles

Primary orbital mesenchymal chondrosarcoma: clinicopathological characteristics and prognostic prediction

ObjectiveThis study aimed to analyze the clinicopathological characteristics of a rare malignant tumour, primary orbital mesenchymal chondrosarcoma (MCS), and identify the risk factors influencing its prognosis. MethodsA total of 15 patients with histologically confirmed primary orbital MCS were enrolled between April 2013 and October 2022. The relationships between clinicopathological features and outcomes, including recurrence and survival were analyzed. ResultsDuring the follow-up period, 9 patients (60%) experienced disease relapse, and 7 patients (46.7%) succumbed to the disease. Immunohistochemical analysis showed positive rates for SMA, CD-99, S-100, vimentin, and Bcl-2 at 60%, 60%, 53.3%, 100%, and 93.3%, respectively. The Ki67 index was positively associated with the recurrence and mortality rates. ConclusionOur study suggested that the Ki67 index could be a vital prognostic factor for MCS. Further follow-up studies are required to assess the efficacy of chemotherapy and radiotherapy in improving patient outcomes.

Metastatic Adenoid Cystic Carcinoma at the Base of the Tongue and Duplicate Breast Cancer Diagnosed During Restaging.

Adenoid cystic carcinoma (AdCC) is a rare malignant tumor that primarily affects the salivary glands but can also occur in other organs. Low incidence and unpredictable clinical behavior make AdCC one of the most difficult head and neck tumors to treat. We present the case of a 54-year-old woman with AdCC localized at the base of the tongue, following radical surgical and oncological therapy. Due to advances in palliative oncological treatment, there is a more than five-year survival period before the progression of metastatic disease. Considering the rare occurrence of this disease, a literature search was also conducted, and therapy options are discussed. Ensuring a sufficient extent of the surgical procedure is still a challenge, and most specialists agree that subsequent postoperative radiotherapy reduces the risk of local recurrence. The effective dose of radiotherapy to the area of the primary tumor and lymph nodes is not clearly defined. The distinct biological behavior of AdCC results in varying sensitivity to chemotherapy or radiotherapy compared to treatments commonly used for head and neck squamous cell carcinomas. Treatment recommendations for these rarer tumors are based mainly on case reports and small clinical trials. The acquired therapeutic experience can contribute to prolonging the survival period of patients and improving their prognosis and quality of life.

Ovarian carcinosarcoma with lung metastasis characterized by persistent fever: A case report and literature review.

Ovarian carcinosarcoma (OCS) is a rare malignant tumor prone to distant metastasis. Primary manifestations include pelvic and/or abdominal pain, bloating, and compression. Nevertheless, it is uncommon for OCS to present primarily with persistent fever. This is the first reported case of OCS with lung metastasis characterized by persistent fever. A 61-year-old female patient complaining of abdominal pain and fever was admitted to our hospital. Computed tomography showed an irregular, slightly low-density mass on the left side of the uterus and multiple solid nodules in both lungs. She underwent cytoreductive surgery for pathologically confirmed stage IVB OCS. She was administered chemotherapy after cytoreductive surgery. Given the patient's history of persistent fever and progressively enlarged pulmonary nodules, a pulmonary abscess was considered as a possible diagnosis. Following antibiotic therapy, the patient's high body temperature did not decrease; however, following nonsteroidal anti-inflammatory drug therapy, it quickly decreased. These symptoms were eventually considered the consequence of neoplastic fever caused by lung metastases. Owing to the rapid progression of the disease, the patient ultimately died. This study suggests that, for patients with pelvic and/or abdominal pain, bloating, and pelvic masses, especially those with suspicious lesions in other organs accompanied by fever of unknown origin, a diagnosis of cancer or sarcoma with metastasis should be considered after ruling out infectious fever.

Immune checkpoint inhibitor therapy for primary neuroendocrine carcinoma of the gallbladder: A case report and literature review.

Gallbladder neuroendocrine carcinoma (GNEC) is indeed a relatively rare malignant tumor of the gallbladder with neuroendocrine differentiation and the ability to produce and secrete a number of neurotransmitters and hormones, characteristics that make its clinical presentation and biological behavior likely to be different from those of other types of gallbladder cancer. Current treatment mostly relies on surgery and adjuvant chemotherapy and radiotherapy. We report a 53-year-old middle-aged male patient who underwent radical surgery for gallbladder malignancy after a diagnosis of neuroendocrine carcinoma of the gallbladder. Diagnosis of neuroendocrine carcinoma of the gallbladder based on the return of pathologic findings. After local progression of postoperative chemotherapy with the first-line regimen of etoposide + cisplatin, an immune checkpoint inhibitor (traplizumab) + FOLIFIRI (fluorouracil + calcium folinate + irinotecan) regimen was used. The patient achieved 20 months of clinical survival and ultimately died of myelosuppression. The use of immune checkpoint inhibitors may become an effective tool in the treatment of neuroendocrine carcinoma of the gallbladder.

Primary Intraoral Granulocytic Sarcoma: A Case Report and Review of Literature

AbstractGranulocytic sarcoma (GS) is a rare extramedullary malignant tumor composed of immature granulocytes, including myeloblasts, promyelocytes, and myelocytes. In most cases, these are associated with persisting blood dyscrasias such as acute myeloid leukemia and chronic myeloid leukemia. To date, 32 cases of GS involving orofacial region have been reported in the English literature. Out of these, only a few presented without any systemic complications. This case reports an unusual occurrence of GS without any associated leukemia involving the mandible of a 29-year-old male patient. Hematoxylin and eosin–stained sections revealed the presence of numerous rounds to ovoid myeloblasts with a multilobated, vesicular nucleus and a prominent nucleolus. The cells stained positive for Cluster of Differentiation 68, lysozyme, and myeloperoxidase. He later underwent chemotherapy but succumbed in the interim period of chemotherapy. We hereby report a unique case of GS of mandible in an apparently healthy individual who deteriorated rapidly; an early and accurate diagnosis of which could have been life-saving.

An aggressive gastric CIC-DUX4 sarcoma surgically resected with multivisceral organs: a case report

BackgroundCapicua transcriptional repressor-double homeobox 4 sarcoma (CDS) is a rare and aggressive malignant soft tissue tumor that typically arises within the soft tissues. We report an exceptionally rare case of a gastric CDS successfully resected despite its extensive invasion into surrounding organs.Case presentationA 48-year-old male presented with a progressively enlarging abdominal mass. Upper gastrointestinal endoscopy revealed a large ulcerative tumor on the posterior gastric wall. Biopsy results initially suggested a neuroendocrine cell carcinoma. Contrast-enhanced computed tomography showed a 20 cm tumor protruding from the posterior stomach wall, directly invading the pancreas and colon. We performed a multivisceral resection (stomach, pancreatic tail, spleen, and transverse colon) achieving an R0 resection. Pathological examination of the permanent specimen revealed small round cells with high nuclear-to-cytoplasmic ratios. Immunohistochemical staining confirmed the diagnosis of CDS. The patient recovered well and was discharged on postoperative day 33.ConclusionsThis case report describes the first detailed account of a surgically resected aggressive CDS originating from the stomach.

The value of elective neck irradiation in management of esthesioneuroblastoma: a retrospective study based on propensity score matching.

This study aims to assess the clinical efficacy of elective neck irradiation (ENI) in patients with esthesineuroblastoma (ENB), a rare malignant neoplasm, who are clinically node-negative. We conducted a retrospective analysis of 178 patients newly diagnosed with ENB at our institution between 2009 and 2021. Propensity score matching (PSM) was employed to compare node-negative patients treated with and without ENI. We extensively examined survival outcomes and treatment failure. Of the 178 participants, 149 (83.7%) were lymph node-negative and staged in Modified Kadish A-C. 96 patients underwent ENI treatment, while 53 did not. At baseline, patients who received ENI differed from those who did not in terms of radiotherapy technique, staging, orbital invasion, surgical mode, and chemotherapy. After PSM, 43 pairs were available for analysis. ENI was observed to extend overall survival (OS, 5-year 73.9% vs. 84.0%; 3-year 76.9% vs. 97.1%, p = 0.022), progression-free survival (PFS, 5-year 38.5% vs. 84.6%; 3-year 50.5% vs. 94.5%, p < 0.001) and locoregional relapse-free survival (LRFS, 5-year 42.7% vs. 84.6%, p = 0.023; 3-year 57.3% vs. 94.5%, p < 0.001) in node-negative ENI patients. Failure pattern analyses revealed that ENI, which included level Ib, II, VIIa, significantly reduced the treatment failure rate. Furthermore, ENI did not significantly impact the prognosis of T1-2 patients, indicating potential clinical value of ENI in T3-4 patients. Our findings suggested that ENI decreased regional failure and significantly enhanced LRFS and PFS. ENI may be considered as an integral part of the initial treatment strategy for locally advanced node-negative ENB patients.

Comparison of clinical characteristics and prognostic factors in two site-specific categories of ampullary cancer

BACKGROUND Ampullary cancer is a relatively rare malignant tumor in the digestive system. Its incidence has increased in recent years. As for now, its biological characteristics have not been fully clarified. Recent studies have primarily focused on the histological classification and genetic changes, but there are fewer investigations into the differences among site-specific subgroups. The clinicopathological characteristics of ampullary cancer occurring in different positions have not been elucidated. Furthermore, the role of adjuvant therapy in the treatment of patients with ampullary cancer remains controversial. AIM To study the clinicopathological features of the two site-specific subgroups of ampullary cancer and explore the factors affecting prognosis. METHODS A total of 356 patients who met the inclusion and exclusion criteria were enrolled. Patients were divided into ampulla of Vater cancer (AVC) and duodenal papilla cancer (DPC) based on the gross and microscopic findings. Baseline data, admission examination results, and perioperative outcomes were collected and analyzed. The Kaplan-Meier curve was used for survival analysis. Univariate and multivariate analysis was performed to explore the independent risk factors affecting the overall survival (OS) of both groups. RESULTS The preoperative total bilirubin level in patients with AVC was significantly higher than those with DPC (P = 0.04). The OS for patients with DPC was 58.90 ± 38.74 months, significantly longer than 44.31 ± 35.90 months for patients with AVC (P &lt; 0.01). The independent risk factors affecting the OS of AVC included: Preoperative albumin level (P = 0.009), total bilirubin level (P = 0.017), and number of positive lymph nodes (P = 0.005). For DPC, risk factors included: Age (P = 0.004), tumor size (P = 0.023), number of positive lymph nodes (P = 0.010) and adjuvant treatment (P = 0.020). Adjuvant therapy significantly improved the OS rate of patients with DPC, but not for those with AVC. CONCLUSION Patients with AVC had a shorter OS compared to those with DPC. The prognosis factors and the role of adjuvant therapy of two groups were different.

Comments and Illustrations of the European Federation of Societies for Ultrasound in Medicine (EFSUMB) Guidelines: Rare Malignant Pulmonal and Pleural Tumors: Primary Pulmonary Sarcoma and Mesothelioma, Imaging Features on Transthoracic Ultrasound.

Primary pulmonary sarcoma and mesothelioma are rare malignancies. The review article discusses the appearance of these tumors in B-mode ultrasound (US), color Doppler ultrasound and contrast-enhanced ultrasound (CEUS). In particular, the article is intended to inspire the examination of thoracic wall tumors and pleural masses with the possibilities of ultrasonography and to obtain histologically evaluable material using US or CEUS-guided sampling.

Ameloblastic Sarcoma of the Mandible: Case Report

Ameloblastic fibrosarcoma (AFS) is considered as a rare malignant neoplasm composed of benign, odontogenic ameloblastomatous epithelium and malignant ectomesenchyme. It predominantly occurs in the posterior mandible with age ranging from 3 to 83 years. Pain and swelling are the most commonly associated clinical symptoms. The purpose of this report is to present a case of 23-year-old male patient who presented with an extra oral swelling in mandible region which was later proven histopathologically as AFS.

Assessing sarcoma cell cytoskeleton remodeling in response to varying collagen concentration

Sarcomas, rare malignant tumors of mesenchymal origin, are often underdiagnosed and have face diagnostic ambiguities and limited treatment options. The main objective of this study was to define the nanomechanical and biophysical properties of sarcoma cells, particularly examining how the cytoskeleton's remodeling and related cellular processes such as cell migration and invasion in response to environmental stimuli due to collagen content. Utilizing one murine fibrosarcoma and one osteosarcoma cell line we employed atomic force microscopy, immunostaining, advanced image processing, in vitro cellular assays, and molecular techniques to investigate cells' cytoskeleton remodeling in response to varying collagen concentration. Our study focused on how alterations in collagen content affects the cytoskeletal dynamics and correlate with changes in gene expression profiles relevant to metastasis and an aggressive cancer phenotypes. Our findings indicate that despite their shared classification, fibrosarcoma and osteosarcoma cells display distinct biophysical properties and respond differently to mechanical forces. Notably, this difference in cellular behavior renders mechanical properties a potent novel biomarkers. Furthermore, the metastasis-related identified genes related to metastatic capability, could be potential therapeutic targets. This study highlights the significance of understanding the unique traits of sarcoma cells to improve diagnostic precision and expand therapeutic strategies, for this rare type of cancer.

A case report of late detection of primary mediastinum herm cell tumor

Germ cell tumors are rare malignant neoplasms. Extragondal localization accounts for about 10% of all germ cell tumors, with up to 3% being mediastinal. The low incidence, along with a nonspecific clinical presentation, complicates initial diagnosis and leads to delays in diagnosis and the initiation of specific treatment. Primary care plays a crucial role in detecting such tumors and in patient routing. At the outpatient stage, the patient should be examined and referred to a specialized facility for specific treatment as quickly as possible. For differential diagnosis at the initial stages between mediastinal germ cell tumors and lymphoproliferative diseases, mediastinal sarcomas, thymomas, and others, monitoring tumor markers is necessary: alpha-fetoprotein (AFP), beta-human chorionic gonadotropin (beta-HCG), and lactate dehydrogenase (LDH). When these markers are elevated and time is critical, it is permissible to start specialized antitumor treatment without histological confirmation.Currently, it is also important to consider the role of the new coronavirus infection, which complicates differential diagnosis at the initial stages. This article presents a clinical case of late detection of a germ cell tumor and attempts to conduct systemic therapy in the context of the disease’s complicated progression.

Difficulties in the diagnosis and treatment of germ cell tumors based on a clinical case

Germ cell tumors (GCT) are a group of rare malignant neoplasms. At the same time, the group of patients with this pathology is mainly young people aged 25–35 years. Taking into account the rarity of the disease and the young age of patients, there may often be difficulties in diagnostics and treatment of this malignant tumor. On the example of the described clinical case of a patient with seminomatous GCT the most frequent problems that specialists may encounter in the treatment of this pathology are presented.

Parathyroid carcinoma: molecular pathology and correlation with clinicopathologic features, a single center experience

Abstract Introduction/Objective Parathyroid Carcinomas are rare malignant neoplasms, accounting for less than 1% of primary hyperparathyroidism cases. Parathyroid carcinomas are characterized by markedly elevated levels of PTH, severe hypercalcemia and established target organ damage. The authors report the experience of a single center regarding the clinic-pathologic and genetic analysis of parathyroid carcinoma cases. Methods/Case Report The study is a retrospective review of all patients with parathyroid carcinoma that were evaluated at a tertiary oncologic center from 2001 until 2023. Results (if a Case Study enter NA) A total of nine cases (6 male and 3 female) were identified, with a mean age at diagnosis of 52 ± 16 years and a median follow-up of 16.5 years. Most patients presented with hypercalcemia (n = 7), with a mean serum calcium concentration of 13.5 mg/dl (9.6-16.5) and a mean PTH of 1123 pg/ml (&amp;lt;a href=“tel:276- 2500”&amp;gt;276-2500&amp;lt;/a&amp;gt;). En bloc surgical resection was performed in 6 patients and 3 patients underwent adjuvant radiotherapy. Recurrence was observed in 4 cases (44.4%) after a median of 24 months following surgery. Negative immunohistochemical staining of parafibromin was noted in 3/4 cases of recurrence. Parathyroid carcinoma was diagnosed on the basis of finding lesions with vascular or perineural invasion, capsular penetration, and/or documented metastases. Immunohistochemical staining for parafibromin, Ki-67, and E-cadherin was performed on formalin-fixed, paraffin-embedded tissue samples. Next generation sequencing (NGS) was performed in 6/9 cases and CDC73 mutations were present in 38.5% of analyzed patients. Loss of TP53 and RB1 alleles and CCND1 amplification were other reported genetic alterations in the study cohort. Conclusion Parathyroid carcinoma is associated with a significant rate of recurrence and limited effective treatment beyond initial complete surgical resection. Inactivating CDC73 alterations which include truncating or frameshift mutations, as well as missense mutations lead to the loss of parafibromin immunoreactivity. Other molecular alterations like PTEN and PIK3CA mutations may represent potential targets for molecular therapy. An IHC panel of parafibromin, Ki-67 and E-cadherin may help to distinguish parathyroid carcinoma from other parathyroid neoplasms.

Sarcomas of the Head and Neck Region.

Sarcomas are relatively rare malignant tumors of mesenchymal origin, representing only about 1% of tumors in the head and neck region. A retrospective study involved patients with sarcomas of the head and neck region who were diagnosed and treated over a 5-year period. Nine patients were included, 4 men and 5 women. The mean age of the patients was 51 years. Eight patients had soft tissue sarcomas, and 1 patient had osteosarcoma. The most common histologic types were dermatofibrosarcoma protuberans and angiosarcoma. Tumors presented predominantly with local symptomatology. All patients were treated only by surgical excision. No distant or regional metastases were found in any patient. Complete surgical excision was achieved in all cases, except in patients with chondrosarcoma of the nose and sinuses, who died due to local progression in the second year of follow-up. Other patients were disease-free during the observed period; a patient with osteosarcoma died in the fourth year of follow-up without recurrence of the malignant disease. Large prospective and multicenter studies are necessary to provide relevant data on the distribution of different types of sarcoma in the head and neck region, their clinical behavior and response to therapeutic modalities, as well as on recurrence, presence of metastases, and survival.

Clinical Perspectives and Novel Preclinical Models of Malignant Pleural Mesothelioma: A Critical Review.

Pleural mesothelioma (PM), a rare malignant tumor explicitly associated with asbestos and erionite exposures, has become a global health problem due to limited treatment options and a poor prognosis, in which the median life expectancy varies depending on the method of treatment. However, the importance of early diagnosis is emphasized, and the practical methods have not matured yet. This study provides a critical overview of PM, addressing various aspects like epidemiology, etiology, diagnosis, treatment options, and the potential use of advanced technologies like microfluidic chip-based models for research and diagnosis. It initially begins with fundamentals of clinical aspects and then discusses the identification of disease-specific biomarkers in patients' serum or plasma samples, which could potentially be used for early diagnosis. A detailed investigation of the sophisticated preclinical models is highlighted. Recent three-dimensional (3D) model accomplishments, including microarchitecture modeling by transwell coculture, spheroids, organoids, 3D bioprinting constructs, and ex vivo tumor slices, are discussed comprehensively. On-chip models that imitate physiological processes, such as detection chips and therapeutic screening chips, are assessed as potential techniques. The review concludes with a critical and constructive discussion of the growing interest in the topic and its limitations and suggestions.

Fine Needle Aspiration Cytology of Pancreatoblastoma in Adult/Adolescent Patients, One With Histology Mimicking NUT Carcinoma.

Pancreatoblastoma is a rare malignant neoplasm. Cytologic diagnosis is challenging due to the tumor's heterogeneity and requirement of the presence of squamoid nests. Commonly affects children, but the tumor rarely is seen in adult patients. We are reporting three cases from two patients. First patient was a 38-year-old male with a mass in the pancreatic body and numerous hepatic lesions. Fine-needle aspiration (FNA) of the pancreas showed a biphasic malignancy, predominantly composed of a primitive component with intermingled squamoid nests. Subsequent Liver FNA from the same patient showed a similar biphasic malignancy. NUT carcinoma was the top differential and was ruled out by molecular testing. Second patient was a 24-year-old female with a history of pancreatoblastoma related to Gardner's syndrome initially diagnosed in 2015 at age 17, status post distal pancreatectomy and chemotherapy. Celiac lymph node FNA in 2021 showed few cohesive clusters of atypical epithelioid cells, which were highlighted by beta-catenin. Lastly, the literature was reviewed; differential diagnosis and ancillary testing were discussed.

Development and validation of an early recurrence predictive model for intrahepatic cholangiocarcinoma based on a systematic review and meta-analysis of 17 cohorts

BackgroundIntrahepatic cholangiocarcinoma (ICC) is a rare malignant tumor with a high incidence of recurrence after surgery. This study aims to identify the early recurrence (ER) risk factors in ICC and develop an ER predictive model for ICC. MethodA computerized search was performed in Embase, Web of Science, Cochrane Library, and PubMed to identify studies focusing on the risk factors associated with ER in ICC. Based on the results of the meta-analysis, an ER predictive model was developed and validated using an external cohort of patients diagnosed with ICC through postoperative pathological examinations who received curative-intent surgery at West China Hospital of Sichuan University. ResultsA total of 4,534 ICC patients from 17 studies were included in the meta-analysis. The results indicated that gender, preoperative serum level of CA199, CEA, tumor size, tumor number, differentiation, macrovascular invasion, microvascular invasion, perineural invasion, lymph node metastasis, and AJCC T stage were ER risk factors for ICC. All risk factors were scored according to their weightings, and a risk predictive model was established. The area under the curve of the validation cohort was 0.902, indicating high predictive accuracy. Additionally, the calibration curve demonstrated that the predicted ER rate aligned well with the actual ER rate in the validation cohort. ConclusionThe predictive model accurately assesses the risk of ER in ICC patients undergoing surgical resection, providing valuable prognostic insights and guiding the tailoring of individualized treatment strategies to improve patient outcomes.

Cohort review of patients with parathyroid cancer in End Stage Renal Disease (ESRD).

Parathyroid carcinoma (PTTC) is a rare malignant endocrine tumor seen in up to 1-2% of all cases of primary hyperparathyroidism. However, incidence of parathyroid carcinoma in renal hyperparathyroidism is a rare phenomenon. We aimed to evaluate the outcomes of PTTC in renal hyperparathyroidism published in the literature. Cohort review of parathyroid cancer cases reported in Medline (via PubMed), COCHRANE and EMBASE between the period 1985 - 2023 in patients with renal hyperparathyroidism. A total of 48 patients (20M: 28F), with a mean age of 49.8 (± 11.7 SD: range 20-75) years. Dialysis vintage was for a period of 8.9 (± 7.2; range 6months to 40years). The mean preoperative values were as follows: serum corrected calcium-2.87 IQR 2.56-3.01), PTH - 221.8 (IQR 86.6 -257.2pmol/L) and serum phosphate - 2.07 (IQR 1.72-2.28) mmol/L. Preoperative imaging was in the form of ultrasound of the neck in 21 of 48 (44%), MIBI scan in 27/48 (56%), contrast enhanced computerized tomography in 14/48 (29%) and MRI neck in 1/48 (2%). The mean size of the cancer was 2.7 (± 1.35) cm and weight of the gland ranged between 0.9 to 4.98g. 18/48 (37%) patients underwent a total parathyroidectomy and 30/48 (63%) had subtotal parathyroidectomy. En bloc excision of the tumour along with the thyroid along and central compartment lymph nodes was only performed in 12/48 (25%), of whom 9 (19%) had it performed at index surgery, whereas in the rest was done for persistent or recurrent disease. After a mean follow up of 34months, 14 (29%) had local recurrence, 1 (2%) had distant metastasis to the skeletal system, and 12 (25%) to the lungs. Cohort mortality was 6 (13%) due to refractory hypercalcemia. Parathyroid carcinoma in renal hyperparathyroidism is rare but when encountered, en bloc excision with parathyroidectomy provides the best chance of cure. Recurrences can be difficult to treat but may be needed to treat intractable hypercalcaemia.

Rare presentation of primary synovial chondrosarcoma arising in the shoulder: a case report.

Synovial chondrosarcoma (CHS) is a rare malignant tumor arising from the synovial tissue and is often associated with synovial chondromatosis. Herein, we present a unique case of primary synovial CHS in the shoulder joint without evidence of synovial chondromatosis. A 60-year-old man presented to our hospital with a complain of left shoulder pain that persisted for 6years, which was initially misdiagnosed as synovitis. Radiography revealed an osteolytic lesion involving the humerus and the scapula. Histologically, the tumor exhibited features of grade 2 synovial CHS, infiltrating the trabecular bones and intra-articular space. Wide resection led to a 9-year recurrence-free survival. This case underscores the challenges in diagnosing and managing synovial CHS, particularly in cases with atypical presentations lacking synovial chondromatosis, necessitating careful follow-up and adequate surgical intervention.