Atypical Tumor Research Articles

MR_NET: A Method for Breast Cancer Detection and Localization from Histological Images Through Explainable Convolutional Neural Networks

Breast cancer is the most prevalent cancer among women globally, making early and accurate detection essential for effective treatment and improved survival rates. This paper presents a method designed to detect and localize breast cancer using deep learning, specifically convolutional neural networks. The approach classifies histological images of breast tissue as either tumor-positive or tumor-negative. We utilize several deep learning models, including a custom-built CNN, EfficientNet, ResNet50, VGG-16, VGG-19, and MobileNet. Fine-tuning was also applied to VGG-16, VGG-19, and MobileNet to enhance performance. Additionally, we introduce a novel deep learning model called MR_Net, aimed at providing a more accurate network for breast cancer detection and localization, potentially assisting clinicians in making informed decisions. This model could also accelerate the diagnostic process, enabling early detection of the disease. Furthermore, we propose a method for explainable predictions by generating heatmaps that highlight the regions within tissue images that the model focuses on when predicting a label, revealing the detection of benign, atypical, and malignant tumors. We evaluate both the quantitative and qualitative performance of MR_Net and the other models, also presenting explainable results that allow visualization of the tissue areas identified by the model as relevant to the presence of breast cancer.

Follow-up analysis of lesion characteristics of enchondromas and atypical cartilaginous tumours of the knee and shoulder region on MRI.

Enchondromas (ECs) and atypical cartilaginous tumours (ACTs), respectively, represent benign and intermediate cartilaginous bone tumours. Differentiation between these tumour entities bears difficulties, as histology and MRI cannot always provide exact diagnoses. Observation of the natural course of ECs/ACTs via follow-up MRIs might support tumour distinction without needing biopsy harbouring sampling error. Reports of patients that had undergone MRI exams of the knee (n = 44.762) or shoulder (n = 21.550) at a single radiology institute between 01.01.2007 and 01.03.2020 were searched for ECs/ACTs with at least one follow-up MRI. Scans of 176 patients (with 182 cartilage lesions) fulfilling these criteria were subsequently re-examined together with corresponding MRI reports to evaluate morphological tumour development over time, focusing on potential alterations of lesion size, tumour-related oedema, and scalloping. Median follow-up time was 27 ± 53 months for knee tumours and 26 ± 32 months for shoulder lesions. Presence of tumour growth was significantly higher in ACTs than in ECs both at the knee (p = 0.04) and shoulder (p = 0.03). While ACTs were associated with median tumour growth rates of 0.039 mm/month (knee) and 0.083 mm/month (shoulder), ECs of the knee and shoulder showed lower median growth rates equivalent to 0.0 mm/month (p < 0.01, p < 0.01). ECs and ACTs both presented stable regarding tumour-related oedema and scalloping during follow-up. ACTs and ECs show different tumour growth rates. Growth rates are slow for both, ECs and ACTs, supporting the current concept of watchful waiting. ECs may decrease in size. Follow-up MRIs may support the radiological differentiation of cartilage lesions. Question Both singular MRI and histological examination have limitations regarding differentiation of enchondromas (EC) and atypical cartilaginous tumours (ACTs). Findings Median ACT growth rates were 0.039 mm/month (knee) and 0.083 mm/month (shoulder), while median growth rates of EC in the knee and shoulder were 0.0 mm/month. Clinical relevance Active surveillance is a safe strategy when dealing with ECs and ACTs of the long bones; follow-up MRIs may support tumour distinction of cartilage lesions, as ECs and ACTs show different growth behaviour.

Atypical Gastric Glomus Tumor of Uncertain Malignant Potential in A 16-Year-Old Female; A Rare Entity with Unique Findings

Abstract Introduction/Objective Gastric glomus tumor (GGT) is a rare mesenchymal tumor that is challenging to diagnose, especially when the immunoprofile overlaps with other more common gastric mesenchymal tumors. The majority of GGT are benign, however, rarely it can be atypical or even malignant. Herein, we present a case of a young female with atypical gastric glomus tumor of uncertain malignant potential. Methods/Case Report A 16-year-old female presented to the emergency with abdominal pain, coffee ground emesis, and melena. Imaging showed a 3.2 cm well-defined gastric mass arising from the muscularis propria. Results (if a Case Study enter NA) The FNA biopsy revealed clusters of tumor cells with uniform characteristics, exhibiting distinct cell membranes and eosinophilic to clear cytoplasm, surrounding prominent vasculature. Immunohistochemical analysis showed that the tumor cells were positive for SMA, synaptophysin, vimentin, calponin, and caldesmon, with weak, patchy positivity for DOG1. CD34 highlighted the vessels separating the tumor cellular clusters into lobules. CD117 and Desmin were negative. The Ki67 proliferation index varied with hotspot foci 25-30%. Morphology and immunoprofile suggest glomus tumor, however, neuroendocrine tumor and epithelioid GIST needed to be excluded. Subsequent resection specimen showed that the tumor was located within the muscularis propria with extension into the serosal vessels, suggesting vascular invasion, along with foci of cellular spindling and nuclear irregularity are identified. No necrosis noted. Tumor cells were positive for cyclin D1 while negative for myogenin, chromogranin, and DOG1. Overall, findings were consistent with GGT of uncertain malignant potential. Conclusion Although GGT are rare, they should be considered in the differential diagnosis of gastric mesenchymal tumors. The presence of diffuse SMA staining can help distinguishing them from GIST. It is crucial to scrutinize for signs of cellular and nuclear atypia, particularly in deeply seated glomus tumors.

DNA Methylation Profiling Confirms a Challenging Glioblastoma, Atypical Mesenchymal Type Which Mimics Intracranial Mesenchymal Tumor

Abstract Introduction/Objective Brain tumors exhibit distinct DNA methylation patterns that reflect their cellular origin, molecular subtype, and clinical behavior. DNA methylation signatures provide valuable insights into tumor heterogeneity, evolution, and treatment response, guiding personalized therapeutic strategies. Our case, glioblastoma, atypical mesenchymal type confirmed by DNA methylation profile and it reflects the clonal evolution of the glioblastoma metaplasia with minimal glial component which was histologically challenging. Methods/Case Report A 56-year-old gentleman presented with headaches. MRI brain demonstrated a heterogeneous enhancing mass with areas of central necrosis in the left temporal lobe, measuring approximately 49 x 34 mm, with surrounding T2 FLAIR hyperintensity extending into the left basal ganglia, causing compression of the left lateral ventricle and uncal herniation. He underwent left-sided craniotomy for tumor resection. Microscopic examination revealed hypercellular spindle cell neoplasm, forming fascicles. Brisk mitotic activity and geographic necrosis were evident. GFAP highlighted narrow margins of the tumor which could represent the entrapped glial tissue. CD99 stained the tumor cells, Other immunohistochemical stains for spindle cell work up, like S100, EMA, PR STAT6 and desmin were all negative. A diagnosis of intracranial mesenchymal tumor /sarcoma was considered. Methylation profiling results showed class calibrated scores of 0.9741, compatible with Glioblastoma, IDH-wildtype, atypical mesenchymal type with a cytogenetic profile including gain of chromosome 7 (including EGFR) and loss of chromosome 10 (including PTEN), and loss of CDKN2A/B. Results (if a Case Study enter NA) NA Conclusion Although histopathological examination and immunohistochemical study are fundamental in diagnosing brain tumors, the rapid development of cytogenetic and molecular diagnostic modalities has significantly contributed to diagnostic accuracy and the potential for targeted treatment. Particularly, DNA methylation profiling has proven valuable in diagnosing morphologically challenging cases with prognostic value. Eventually, DNA methylation profiling will be adopted as a major cancer diagnostic criterion and will become a standard procedure performed at major academic centers.

Atypical Desmoid Tumor, A Case Report

Desmoid tumors are rare and benign tumors of soft tissues, characterized by local invasion and high tendency to recur despite surgical resection, we study the case of a 19-year-old patient admitted for cervico-facial and parieto-costal swellings, without any significant family history, and we study the CT and magnetic resonance imaging aspects, with an unpredictable and recurrent evolution despite surgical excision, with many studies that affirm the hormonal factor with the progression of the swelling, as well as its decrease in size after menopause for the treatment, there is no consent using the different components, surgery, chemo-radiotherapy with different and uncodified effectiveness.

7508 Primary Hyperparathyroidism Caused By A CDC73-related Atypical Parathyroid Tumor

Abstract Disclosure: R. Cardenas: None. S. Tariq: None. R. Habibi: None. N. Ebrahimi: None. E. Astiazaran-Symonds: None. Background: Primary hyperparathyroidism (PHPT) is a common endocrine disease, causes include: parathyroid adenomas (80-85%), parathyroid hyperplasia (10-15%), atypical parathyroid adenomas (APA) (1.2 %) and parathyroid carcinomas (PC) (1%). APA share many anatomic and histopathologic features with PC making the distinction between the two challenging. Although most are sporadic, some APA are caused by germline mutations in the CDC73 gene, which is associated with hyperparathyroidism-jaw tumor (HPT-JT) syndrome PC and familial isolated PHPT with APA. Clinical Case: A 42-year-old female presented to the clinic for evaluation of recurrent PHPT. She was diagnosed at age 22 when she experienced fatigue, polydipsia with hypercalcemia (12.9mg/dl). She underwent superior bilateral parathyroidectomy with pathology consistent with parathyroid adenoma. Twenty years later, symptoms recurred and tests showed hypercalcemia (13.0 mg/dl), elevated PTH (252 pg/dl), kidney function preserved (GFR: 82.5 ml/min), normal vitamin D 25 OH (31 ng/dl). Patient denied history of nephrolithiasis or fractures. Family history was positive for kidney stones in father and siblings, also history of a jaw tumor in niece. Sestamibi scan showed a left inferior parathyroid adenoma. Patient underwent resection of the adenoma; pathology revealed a left parathyroid adenoma with atypical parathyroid tumor, &amp;gt;95% cellularity with cytologic features concerning for malignancy, prominent macronucleoli, necrosis, elevated mitotic activity and Ki67 with 15% tumor cells without vascular invasion. Post-op Calcium and PTH normalized (9.6 mg/dl and 10.8 pg/ml, respectively). Genetic testing via multi-gene panel identified a whole gene deletion of CDC73, consistent with hyperparathyroidism-jaw tumor syndrome. Panoramic jaw x-rays did not show jaw tumors. Genetic testing for family members is underway. Conclusion: Although somatic mutations in CDC73 are frequently found in sporadic APA and PC, germline mutations are a rare cause of PHPT associated with these tumors. Histopathological examination is necessary to confirm the diagnosis of APA and to differentiate it from PC, which has a recurrence rate &amp;gt;50%. APA should be treated as a “tumor of uncertain malignant potential” and needs to be carefully and periodically followed up with measurement of Ca, PTH and vitamin D. Confirmation of a CDC73 mutation by genetic testing helped identify the increased risk for other associated tumors in jaw, kidneys and uterus prompting initiation of surveillance with panoramic jaw x-rays with neck shielding, renal US and pelvis US. Genetic testing of family members will allow timely detection and treatment of individuals at risk. Presentation: 6/3/2024

12363 A Unique Case Of hüRthle Cell Carcinoma of the Thyroid Gland and Meningioma

Abstract Disclosure: I. Elsayed: None. R. Khan: None. H. Dhaliwal: None. Introduction: MEN1 gene is a tumor suppressor gene on chromosome 11q13 that encodes the nuclear protein menin, which regulates cell growth and cycle. When menin protein is deficient, MEN1 develops. MEN1 mutation usually involves tumors within the parathyroid glands, pancreas, or pituitary. Case Description: A 66-year-old male with past medical history of hypertension, hyperlipidemia, and coronary artery disease presented with sudden onset dizziness, nausea and vomiting for 1 hour. He had similar symptoms on and off for several months, however on the day of presentation, these symptoms were much more acute and severe. Stroke work-up was done including CT and CTA head which revealed a 1.7cm enhancing lesion to R temporal lobe with surrounding edema with an incidental 3 x 3 cm heterogeneous mass in the large portion of the right thyroid gland. Steroids initiated. MRI brain imaging revealed findings consistent with meningioma with local mass effect and pronounced parenchymal edema. Patient underwent successful resection of the mass and pathology confirmed diagnosis of Meningioma, WHO Grade 1. Ear Nose Throat specialist was consulted for incidental thyroid mass. Ultrasound guided Fine needle aspiration biopsy was, Pathology report returned suspicious for follicular neoplasm, Hürthle cell-type. Patient initially underwent right substernal semi-thyroidectomy. Pathology confirmed diagnosis of Oncocytic (Hürthle cell) carcinoma, minimally invasive, 4.3 cm with a single focus of capsular invasion, negative for lymphovascular invasion Discussion: This case presents a 66-year-old male with a rare coexistence of two distinct tumors: a meningioma and a Hürthle cell carcinoma of the thyroid gland. While meningiomas and Hürthle cell carcinoma are not commonly associated with MEN1 syndrome, there have been reports of atypical cases with unusual tumor associations. MEN1 is usually characterized by abnormalities in at least two affected endocrine glands, but variations can involve other endocrine and non-endocrine tumors as well. 25% of thyroid disease can be seen in MEN 1 syndrome; typically papillary thyroid cancer. Only one case in literature found Hürthle cell carcinoma and meningioma in the setting of MEN-1 phenotype. A second case unique case was Hürthle cell carcinoma with metastases to the meninges. The discovery of both a meningioma and a Hürthle cell carcinoma in this patient emphasizes the importance of clinicians being vigilant for the possibility of multiple neoplasms. This case highlights that there may be a relation between role of MEN1 with atypical neoplasms not commonly seen. Presentation: 6/2/2024

12350 A Rare Case Of Giant Parathyroid Adenoma Managed Medically For 8 Months: A Case Report

Abstract Disclosure: S. Labram: None. L. Bilandzic: None. Background: Single parathyroid adenoma is the most common cause of primary hyperparathyroidism, and is attributed to approximately 85% of cases[1]. However, those classified as giant (weighing over 3.5 g and having a size greater than 2cm2) are exceedingly rare. This reports a rare case of primary hyperparathyroidism caused by giant parathyroid adenoma and details biochemical response following medical and surgical management. Case Report: A 64 year old black female presented with severe abdominal pain, confusion and constipation. Investigations revealed severe hypercalcemia of 17.3 mg/dl with massively elevated parathyroid hormone of 1255 pg/mL. Ultrasound showed a large hypoechogenic lobulated mass inferior to the left thyroid lobe representing a giant parathyroid adenoma. Due to delayed surgery the patient was initially treated medically over the course of 8 months. Over these months she was admitted to hospital 3 times for symptomatic hypercalcemia and received a total of 3 zolendronic acid infusions. Despite this she was unable to achieve long term remission of hypercalcemia. Cinacalcet was added and tolerated at the dose of 30 mg daily. Hypercalcemia improved, but remained elevated at a range of 11-13 mg/dL and the symptoms of brain fog and constipation did not subside entirely. She was eventually able to undergo surgical resection, and a giant parathyroid adenoma weighing 8.9 g was excised. Intraoperative intact parathyroid hormone (IOiPTH) sampling showed &amp;gt; 50% reduction (prior to removal 878pg/mL, 10 minutes after removal 132 pg/ml, 20 minutes after removal 96pg/mL). Pathological review showed an atypical parathyroid tumor. As the tumor lacked invasive growth it did not meet criteria for carcinoma. Conclusions: This is a rare case of primary hyperparathyroidism caused by a giant solitary parathyroid adenoma. The gold standard for management of primary hyperparathyroidism secondary to parathyroid adenoma is minimally invasive parathyroidectomy. However in our case, due to inability to access immediate surgery, challenging and prolonged medical treatment of severe hypercalcemia followed for 8 months. Ultimately, normalization of calcium level was achieved only by surgical intervention. IOiPTH measurements showed appropriate decrease confirmatory for the complete removal of the adenoma.

Atypical Multifocal Granular Cell Tumor with FLT3 Y842C Somatic Mutation: A case report and a review of the literature.

Granular cell tumors (GCT) are predominantly benign neoplasms composed by cells with abundant eosinophilic granular cytoplasm. Although the majority of GCTs exhibit a benign clinical course, a minority display cytological atypia and may exhibit aggressive, cancer-like behavior. Definitive evidence of malignancy in GCTs is reliably established only through the presence of metastasis. Addi- tionally, a subset of GCTs demonstrates a high rate of recurrence, underscoring the need for better prog- nostic markers. Therefore, it is crucial to identify molecular markers associated with aggressive behavior in GCTs. Molecular analysis may be particularly beneficial in cases exhibiting cytological atypia to in- form clinical outcome prognostication and guide therapeutic strategies. In this case report, a 45-year-old female with multiple gastrointestinal GCTs is pre- sented. The patient did not have any genetic syndromes commonly associated with GCT, such as neu- rofibromatosis type 1, Noonan syndrome or LEOPARD syndrome. The tumors not only demonstrated nuclear atypia, but also harbored a unique FLT3 Y842C somatic alteration identified by next-genera- tion sequencing. The patient remains asymptomatic and under endoscopic surveillance two years after diagnosis and complete resection of the neoplasms. We presented an exceedingly rare case of multifocal atypical GCT in an adult without any previously known genetic syndrome. A tumoral FLT3 Y842C point mutation not previously reported in GCT was discovered. Although the precise significance of this finding is uncertain, FLT3 Y842C has been cataloged as likely pathogenic in ClinVar. This report underscores the potential predictive utility of next-generation sequencing in the characterization and management of rare neoplasms.

7508 Primary Hyperparathyroidism Caused By A CDC73-Related Atypical Parathyroid Tumor

7508 Primary Hyperparathyroidism Caused By A CDC73-Related Atypical Parathyroid Tumor

Parathyroid carcinoma and atypical parathyroid tumor: analysis of an Italian database.

Atypical parathyroid tumor (aPT) and parathyroid carcinoma (PC) are extremely rare parathyroid neoplasms, accounting together for <2% of all parathyroid tumors. They often present an overlapping clinical phenotype, sharing clinical, biochemical, and some histological features. They are distinguished only by the presence of local invasion, and lymph nodes or distant metastasis, which are all absent in aPTs. To date, only few studies have compared clinical presentation and features between aPTs and PCs. Our purpose was to conduct a retrospective study on a multicenter Italian database of aPT and PC patients. We comparatively analyzed main features of aPT (n = 57) and PC (n = 74) patients collected at 15 major endocrinology and endocrine surgery centers in Italy. Atypical parathyroid tumors and PCs showed no significant differences in many clinical features and presented similar values of elevated parathyroid hormone and total serum calcium. Renal complications, namely nephrolithiasis and nephrocalcinosis, appeared to be more common in PC, with a significantly higher rate of renal colic, regardless of total serum calcium levels and 24-h calciuria. Parathyroid carcinomas showed significantly higher postoperative disease persistence and recurrence rates, presumably due to an uncomplete resection of the primary tumor in 23.5% of cases and/or presence of unremoved active metastasis, but they had similar disease-free mean time after surgery than aPT. To deepen the study of malignant parathyroid tumors, the institution of a novel Italian retro-prospective multicenter registry of aPTs and PCs is currently ongoing, and a dedicated PC European registry has been recently activated.

Posterior pituitary tumors and other rare entities involving the pituitary gland.

Non-neuroendocrine tumors account for around 10% of all primary neoplasms of the sella. If meningiomas, craniopharyngiomas, and germ cell tumors are excluded, the remaining lesions include a broad spectrum of uncommon, benign, and aggressive, often diagnostically challenging lesions. This review aims to summarize the essential clinicopathological features of tumors of the posterior pituitary gland, infundibulum spectrum expressing thyroid transcription factor 1, and primary sellar atypical rhabdoid teratoid tumor, and provide the criteria for their diagnosis and management.

Gastric-type extremely well-differentiated adenocarcinoma of the stomach: A rare tumor with diagnostic difficulties and high inter-observer variation in endoscopic pinch biopsies

Extremely well-differentiated gastric-type adenocarcinoma (EWDGA) is a rare type of gastric cancer composed of deceptively bland-looking malignant cells resembling normal foveolar or pyloric epithelium. The histological features of this tumor have not been recognized by many pathologists, and inter-observer variation studies are lacking. Here, we report seven EWDGAs and inter-observer variation of six preoperative biopsies was evaluated by 11 pathologists in a single institute. Based on the pathological diagnosis of the endoscopic biopsy slides, the average rate of definite malignancy diagnosis was 15.2 %, and the overall diagnostic concordance rate was 34.9 % among 11 pathologists. Microscopically, the surface epithelium was preserved and only a few atypical tumor glands were scattered in most endoscopic biopsies. Structural atypia was minimal, and the tumor glands were barely distinguishable from normal glands. Although nuclear atypia was minimal, enlarged nuclei, relatively large glands with irregular shapes, and abundant cytoplasmic mucin were observed in gastric pinch biopsies. In preoperative biopsies, no cases showed p53 overexpression, and Ki-67 labeling index ranged from 3 % to 35 % and was higher compared to non-neoplastic glands in 3 cases. After gastrectomy, four (57.1 %) patients had advanced gastric cancer and three (42.9 %) had lymph node metastasis. Genomic profiling of the four patients revealed mutations of TP53, BRAF, KRAS, STK11, and MDM2/CCND1 amplification. Immunohistochemistry for p53 was not helpful while Ki-67 may be helpful when staining pattern is distinct from the non-neoplastic mucosa. In conclusion, it is challenging to diagnose EWDGA using biopsy specimens. Recognizing and addressing this rare entity will increase diagnostic accuracy to ensure the early diagnosis of cancer.

Vascular mimicry and mosaic vessels in parathyroid tumours: a new diagnostic approach?

AimsEvaluation of ‘alternative’ vascularisation in human cancer is considered an important prognostic parameter; the 2022 WHO classification of parathyroid tumours despite progresses in clinical triaging of patients strongly emphasises new...

Lymphatic and blood vessels in parathyroid tumors: Immunohistochemical study with LYVE-1 and von Willebrand factor.

Parathyroid tumors exhibit distinct histopathological features that differentiate benign from malignant lesions. This study aimed to study characteristic distribution of lymphatic and blood vessels in normal parathyroid gland and parathyroid tumors to distinguish cancer from benign tumors. Immunohistochemical staining for lymphatic and blood vessels and parathyroid hormone was performed with parathyroid proliferating lesions including adenoma, multiglandular multiple adenomas, atypical tumor, and carcinoma. Lymphatic vessels were immunostained with lymphatic vessel endothelial receptor 1 (LYVE-1) and blood vessels were immunostained with von Willebrand factor (vWf). Normal parathyroid gland contained several round blood vessels with less linear lymphatic vessels. The less parathormone-immunostained adenomas weighing less than 2 g revealed larger blood vessels with perivascular small linear lymphatic vessels, and the larger adenomas contained proportionally larger blood vessels. Smaller multiglandular multiple adenomas were like smaller adenomas with less parathormone staining and contained larger, round blood vessels with perivascular small linear lymphatic vessels. Larger multiglandular multiple adenomas weighing more than 4 g and one atypical tumor contained nodular pattern consisted of alternating strongly parathormone-positive lobes and negative lobes with numerous, dilated blood vessels and perivascular linear lymphatic vessels. Both primary and metastatic carcinomas were strongly and diffusely positive for parathyroid hormone with numerous lymphatic and blood vessels at the invading margin. Thus, normal parathyroid has rich blood vessels which provide accessibility of minced tissues seeding for auto-transplantation. Immunostaining patterns of parathyroid hormone, lymphatic and blood vessels help to distinguish carcinoma from benign parathyroid proliferating lesions. The negative immunohistochemical staining for parafibromin will detect carriers of hyperparathyroidism-jaw tumor (HPT-JT) syndrome and would help in diagnosing parathyroid cancer in both HPT-JT carriers and sporadic patients.

Juvenile ossifying fibroma accompanied with low-grade central osteosarcoma in sinonasal: a rare case report

Sinonasal osteosarcoma is comparatively rare and accounts for 6.5% of all osteosarcomas. The five-year survival rate is less than 25% and may be improved to 60% when chemotherapy is initiated earlier. The diagnosis of low-grade central osteosarcoma requires a meticulous histopathological examination because histopathologically the tumor may mimic fibro-osseus neoplasm. We report a 12 y.o. male patient who complained of a lump on the face for 4 yr with symptoms of nasal discharge, congestion, epistaxis, and a feeling of fullness in the ears. Sinonasal biopsy was later performed and revealed an inverted papilloma. Two months after the biopsy procedure, mass extirpation and medial maxillectomy were performed. Histopathology examination confirms the diagnosis of ossifying fibroma accompanied by low-grade central osteosarcoma. Low-grade central osteosarcoma is an exceptionally rare variant, and the diagnosis is occasionally difficult. It can be misdiagnosed as a benign lesion, especially fibrous dysplasia or ossifying fibroma. Histomorphological, the discovery of atypical tumor cells producing osteoid matrix can be used to confirm that the lesion is a malignant lesion of low-grade central osteosarcoma. As demonstrated in our case, the tumor can consist of a trabecular and curvilinear arrangement of immature bone, at the edges of which there is an osteoblastic rimming appearance with a background of connective tissue stroma which is a histopathological feature of ossifying fibroma.

Facial Venous Tumour Thrombus from Submandibular Gland Mucoepidermoid Carcinoma: An Atypical Tumour Spread in Head and Neck Cancer.

Tumour thrombus of the facial vein is an exceedingly rare complication arising from mucoepidermoid carcinoma of the salivary glands. Early detection is pivotal for appropriate management, as delays can lead to metastatic disease, worsening the prognosis. We present a case involving a 76-year-old male with a history of mucoepidermoid carcinoma of the right submandibular gland, previously treated with surgical resection and radiotherapy. The patient, a long-term worker in a rubber factory, presented with a painless, firm swelling in the right cheek, persisting for three months. Contrast-enhanced computed tomography (CECT) showed distended facial vein with enhancing thrombus confirmed by sonographic correlation demonstrating intralesional vascularity. Cannon ball pulmonary nodules were also noted. Radiological findings led to a core biopsy, confirming tumor thrombosis of the facial vein due to mucoepidermoid carcinoma. However, the patient declined a biopsy of the pulmonary nodules, and has been referred to oncology for further management. This case highlights the critical importance of considering venous tumour thrombus in patients with previous salivary gland malignancies presenting with new or persistent facial swellings. It emphasises the role of advanced imaging techniques in the early identification of this rare entity. Additionally, it stresses the need for healthcare providers to engage in thorough discussions with patients about the potential consequences of forgoing recommended treatments, reinforcing the need for vigilance in monitoring such patients. Tumours of head and neck may cause thrombosis of veins by direct invasion resulting in a tumour thrombus, or indirectly by exerting a mass effect and vein compression.These can be distinguished by contrast-enhanced computed tomography (CECT) or magnetic resonance imaging (MRI).Doppler ultrasound may show patchy neovascularisation in a tumour thrombus, which would be absent if thrombosis was caused by compression.

An aggressive Cushing's syndrome originating from a rare thymic neuroendocrine tumor, controlled successfully with fluconazole and octreotide therapy before surgery.

Cushing's syndromes (CSs) due to the thymic neuroendocrine tumors are rarely seen. Here, a case of ectopic CS originating from an atypical neuroendocrine tumor has been presented. A 49-year-old woman was hospitalized with symptoms of fatigue, chest pressure, dyspnea, muscle weakness, and resistant hypertension. There was marked hyperpigmentation in the whole-body surface suggestive of adrenocorticotropic hormone (ACTH) excess and there were physical features of CS. There was deep hypokalemia. Basal hormone profile, dexamethasone suppression tests, midnight cortisol, and 24-hour urine cortisol levels were suggestive of ectopic CS. The pituitary magnetic resonance imaging revealed a 5 mm cystic lesion and the patient refused inferior petrosal sinus sampling. Thorax computerized tomography showed an anterior mediastinal mass. A fluorodeoxyglucose-positron emission tomography showed the same mediastinal lesion (suvmax: 11.4), and no other tumor focus was detected. There was an aggressive cortisol excess causing acute respiratory distress syndrome, making it difficult to perform the surgery. We immediately started fluconazole and octreotide therapy and were successful in lowering the cortisol level. Then a complete resection of the tumor had been able to be surgically performed and tumor cells showed strong cytoplasmic immunopositivity with ACTH. A definitive diagnosis of "ACTH secreting atypical thymic carcinoid tumor" was rendered based on the histopathological and immunohistochemical features. There was only surrounding vessel invasion, and no lymphoid or other organ metastases were detected. As there were surrounding vessel invasions, a two-cycle regimen cisplatin-etoposide chemotherapy and radiotherapy were employed. After surgical and medical therapy, the cortisol and ACTH levels turned to normal. The patient is in biochemical and clinical remission and has no tumor recurrence yet. Ectopic ACTH-producing thymic carcinoids are rare but life-threatening tumors because of the underlying malignancy and severe hypercortisolemia. It is important to consider this disease and perform appropriate treatment at the right time. Today, surgery is the standard therapeutic modality if it is possible to perform, but there is not a clear and constant recommendation for nonsurgical therapeutic modalities. Further studies are needed for the optimal treatment strategies.

Computed tomography-based radiomics machine learning models for differentiating enchondroma and atypical cartilaginous tumor in long bones.

To explore the value of CT-based radiomics machine learning models for differentiating enchondroma from atypical cartilaginous tumor (ACT) in long bones and methods to improve model performance.59 enchondromas and 53 ACTs in long bones confirmed by pathology were collected retrospectively. The features were extracted from preoperative CT images of these patients, and least absolute shrinkage and selection operator (LASSO) regression was used for feature selection and dimensionality reduction. The selected features were used to construct classification models by thirteen machine learning algorithms. The data set was randomly divided into a training set and a test set at a proportion of 7:3 by ten-fold cross-validation to evaluate the performance of these models.A total of 1199 features were extracted, 9 features were selected, and 13 radiomics machine learning models were constructed. The area under the curve (AUC) of 11 models was more than 0.8, and that of 3 models was more than 0.9. The Extremely Randomized Trees model achieved the best performance (AUC = 0.9375 ± 0.0884), followed by the Adaptive Boosting model (AUC = 0.9188 ± 0.1010) and the Linear Discriminant Analysis model (AUC = 0.9062 ± 0.1459).CT-based radiomics machine learning models had great ability to distinguish enchondroma and ACT in long bones. By using filters to deeply mine high-order features in the original image and selecting appropriate machine learning algorithms, the performance of the model can be improved. · CT-based radiomics machine learning models can distinguish enchondroma and ACT in long bones.. · Using filters and selecting advanced machine learning algorithms can improve model performance.. · Clinical features have limited utility in distinguishing enchondroma and ACT in long bones.. · Hong R, Li Q, Ma J et al. Computed tomography-based radiomics machine learning models for differentiating enchondroma and atypical cartilaginous tumor in long bones. Fortschr Röntgenstr 2024; DOI 10.1055/a-2344-5398.

Imaging Recommendations for Diagnosis and Management of Primary Parathyroid Pathologies: A Comprehensive Review.

Parathyroid pathologies are suspected based on the biochemical alterations and clinical manifestations, and the predominant roles of imaging in primary hyperparathyroidism are localisation of tumour within parathyroid glands, surgical planning, and to look for any ectopic parathyroid tissue in the setting of recurrent disease. This article provides a comprehensive review of embryology and anatomical variations of parathyroid glands and their clinical relevance, surgical anatomy of parathyroid glands, differentiation between multiglandular parathyroid disease, solitary adenoma, atypical parathyroid tumour, and parathyroid carcinoma. The roles, advantages and limitations of ultrasound, four-dimensional computed tomography (4DCT), radiolabelled technetium-99 (99mTc) sestamibi or dual tracer 99mTc pertechnetate and 99mTc-sestamibi with or without single photon emission computed tomography (SPECT) or SPECT/CT, dynamic enhanced magnetic resonance imaging (4DMRI), and fluoro-choline positron emission tomography (18F-FCH PET) or [11C] Methionine (11C -MET) PET in the management of parathyroid lesions have been extensively discussed in this article. The role of fluorodeoxyglucose PET (FDG-PET) has also been elucidated in this article. Management guidelines for parathyroid carcinoma proposed by the American Society of Clinical Oncology (ASCO) have also been described. An algorithm for management of parathyroid lesions has been provided at the end to serve as a quick reference guide for radiologists, clinicians and surgeons.