OpenMed/multicare-articles huggingface dataset:
Unusual Location of Residual Mass in an Uncorrected Undescended Testis with Germ Cell Tumor
Authors: Navid Masoumi, Mostafa Farajpour, Atoosa Gharib
Journal: Case Rep Urol (2023)
MeSH terms: Case Reports

Intra-abdominal cancer in an adult with undescended testis (UDT) is rare owing to widespread screening and management during childhood. Here, we present a 33-year-old gentleman with a complaint of abdominal pain and pelvic mass which appeared to be an uncorrected UDT with cancerous degeneration. Additional evaluation revealed a suspicious mass in the retrovesical space which remained after chemotherapy. Histologic evaluation after resection of this mass indicated cancer spread of testicular origin behind the bladder.
Successful treatment of relapsed and refractory CIDP with ofatumumab: a first case report
Authors: Jian Wang, QunHong Xiang
Journal: Front Immunol (2024)
Keywords: chronic inflammatory demyelinating polyradiculoneuropathy, efficacy, ofatumumab, refractory, relapse
MeSH terms: Antibodies, Monoclonal, Humanized / administration & dosage, Antibodies, Monoclonal, Humanized / therapeutic use, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / drug therapy, Recurrence, Case Reports, Humans, Male, Middle Aged, Treatment Outcome, ofatumumab, Antibodies, Monoclonal, Humanized

Background:
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a heterogeneous but treatable immune-mediated neuropathy. Ofatumumab (OFA) is a fully human anti-CD20 monoclonal antibody that has shown promising efficacy in central demyelinating diseases, such as multiple sclerosis (MS). However, there is a lack of studies on the usage of OFA in peripheral demyelinating diseases, particularly CIDP. A case of relapsed and refractory CIDP with an ineffective response to conventional immunotherapy and intolerance to rituximab (RTX) but a positive response to subcutaneous injections of OFA is presented.
Case presentation:
The patient, a 46-year-old man diagnosed with CIDP, received high-dose intravenous methylprednisolone, intravenous immunoglobulin (IVIG), and plasma exchange(PE) during the acute phase of the disease, and long-term oral administration of prednisone, azathioprine (AZA), and mycophenolate mofetil (MMF) during the remission phase. However, the patient suffered six relapses over a five-year period, and because of these, along with an ineffective response to conventional immunotherapy, and intolerance to RTX, subcutaneous injections of OFA were selected as a prophylactic treatment against relapses. After a total of six injections of OFA, CD19+B cells were substantially depleted. The patient has been followed for more than 23 months without relapse.
Conclusions:
This case demonstrates the effectiveness and good tolerability of OFA in the treatment of relapsed and refractory CIDP. Further studies are needed to investigate the efficacy and safety of OFA in patients with relapsed and refractory CIDP, especially in those who have shown an ineffective response to conventional immunotherapy and are intolerant to RTX.
Hepatic alveolar echinococcosis simulating metastatic malignancy
Authors: Suvradeep Mitra, Payal Charaya, Shrinath Gururaj Deshpande, Mayur Parkhi, Thakur Deen Yadav
Journal: Autops Case Rep (2024)
Keywords: echinococcosis, keywords
MeSH terms: Case Reports

Echinococcosis is a parasitic disease caused by infection with tiny tapeworms of the genus Echinococcus. Echinococcosis is classified as either cystic echinococcosis or alveolar echinococcosis. The common form is a zoonosis from goats and sheep that tends to cause liver lesions. The larval stage of Echinococcus multilocularis causes alveolar echinococcosis/alveolar hydatid disease. It is a zoonosis with field mice and tundra voles as intermediate and wild carnivores like foxes and wolves as definitive hosts. This zoonosis is highly uncommon compared to the other form known as cystic echinococcosis but poses a great human threat if untreated. We report the case of a young man who was working in the Kashmir Valley, North India, and presented with jaundice and right upper quadrant abdominal pain. Computed tomography revealed a large solid-cystic intrahepatic lesion measuring 125x118x123 mm, suggestive of a malignant tumor with central necrosis. A liver biopsy showed necrosis with PAS-positive membranes morphologically consistent with echinococcosis. Alveolar echinococcosis can present as a solid-cystic mass in the liver and can simulate metastatic malignancy.
Gastric adenocarcinoma in Situs inversus totalis: a case study and literature review
Authors: Bo Sun, Ping Xu, Pengfei Kong, Yantian Fang, Hong Fu
Journal: Front Oncol (2023)
Keywords: situs inversus totalis, gastrectomy, gastric cancer, surgical management, vascular anomalies

Background:
Situs inversus totalis (SIT) is an uncommon disorder characterized by mirror-image anatomy, which can present unique challenges and potential vascular anomalies in surgical interventions, particularly in gastric cancer patients.
Aims:
We aim to delineate a rare case of gastric adenocarcinoma in a SIT patient and conduct a thorough review of the existing literature concerning surgical strategies, vascular anomalies, and outcomes observed across varied geographic locales and technological approaches.
Methods:
A thorough examination of a case involving a 39-year-old male SIT patient who underwent a successful distal gastrectomy with D2 lymph node dissection is presented alongside an expansive literature review. The review encompasses 47 articles, collating data on surgical approaches and vascular anomalies across 49 patients diagnosed with SIT and gastric cancer.
Results:
The patient underwent curative distal gastrectomy and Billroth II with Braun anastomosis within 95 minutes, incurring minimal intraoperative blood loss (100ml). Postoperative pathology confirmed moderately to poorly differentiated gastric adenocarcinoma (pT3N0M0), with no signs of recurrence or metastasis after 6 months of S-1 adjuvant chemotherapy. The literature review revealed vascular anomalies in approximately 20% of reported cases, accentuating its surgical significance. Noteworthy variations in surgical strategies, operative times, blood loss, and complications across different surgical modalities were observed, providing a comprehensive view into the practical management of such cases.
Conclusion:
Despite the inherent challenges associated with SIT, various surgical techniques can be successfully applied with meticulous preoperative planning and understanding vascular anomalies. This compilation of diverse surgical experiences across numerous documented cases seeks to provide a consolidated resource for refining surgical strategies and enhancing postoperative outcomes for gastric cancer patients with SIT, underscoring the imperativeness of further research in this niche domain.
Multimodal optical imaging of iris flocculi in three consecutive generations: a case report
Authors: Anna Jiang, Licong Liang, Kaiqin She, Fang Lu
Journal: Front Med (Lausanne) (2024)
Keywords: acta2 gene, color photographs of the iris, familial thoracic aortic aneurysm and aortic dissection (taad), fundus angiography (fa), iris flocculi, optical coherence tomography (oct)
MeSH terms: Case Reports

Background:
Multiple pigmented epithelial cysts at the edge of pupils, that is, iris flocculi, in both eyes, are rare ocular diseases. It has been demonstrated that this disease can be attributed to mutations in the smooth muscle α-actin 2 (ACTA2) gene, which mainly affects the function of smooth muscle cells (SMCs). SMCs are components of the iris, aorta, and several other systemic organs. In addition, iris flocculi are strongly correlated with familial thoracic aortic aneurysm and dissection (TAAD), which is caused by the mutation of amino acid 149 in the ACTA2 gene.
Case description:
A 6-month-old Chinese boy was found to have iris flocculi during ocular fundus screening for premature infants. His mother, a 30-year-old Chinese woman with a history of aortic dissection, underwent an ophthalmic examination and was found to have iris flocculi. Whole exome sequencing revealed a heterozygous c.445C > T (p. Arg149Cys) mutation in ACTA2 in both the boy and his mother. After his family history was traced, the boy's grandfather was diagnosed with similar iris flocculi. Due to the absence of any ocular complications caused by iris flocculi in the cases, no special treatment was given, and regular follow-up was recommended.
Conclusion:
We reported one case of familial iris flocculi caused by a heterozygous missense mutation in ACTA2 (p. Arg149Cys) and presented multimodal optical images of both the iris and fundus in three consecutive generations. This case report enriched the clinical features of retinal vasculature and macula associated with the mutation in the amino acid 149 of the ACTA2 gene.
Hepatic artery pseudoaneurysm: three case reports and literature review
Authors: Yuan-Quan Zhao, Yong-Yu Yang, Si-Yang Yao, Xiao-Feng Dong
Journal: Front Med (Lausanne) (2024)
Keywords: case report, cholelithiasis, hepatic artery pseudoaneurysm, laparoscopic surgery, transcatheter arterial embolization
MeSH terms: Case Reports

Laparoscopic surgery is extensively applied in the treatment of hepatobiliary diseases. Hepatic artery pseudoaneurysm (HAP) is a rare complication following hepatic biliary surgery through laparoscopy. The clinical manifestations of HAP are diverse and can be fatal. Given its severity, rapid assessment and management are crucial to ensuring a good prognosis. Here, we report three cases of HAP; two underwent laparoscopic surgery due to cholelithiasis, and another caused by trauma. The first case exhibited a pseudoaneurysm involving the distal portion of the right hepatic artery main trunk. The second patient had a pseudoaneurysm at the bifurcation of the left and right hepatic arteries. The third case involved a patient with a pseudoaneurysm involving a branch of the right hepatic artery. The main clinical manifestations of all three cases were bleeding from the biliary tract (the first two cases showed postoperative bleeding in the T-tube, while the third case exhibited gastrointestinal bleeding). The final diagnosis was obtained through digital subtraction angiography. The three patients underwent successful transcatheter arterial embolization operation and a follow-up revealed they were disease-free and alive. This article aims to highlight a rare complication of laparoscopic hepatobiliary surgery and share our experience in early diagnosis and treatment of HAP.
Understanding Zenker's Diverticulum Treatment: Transoral CO2 Laser Microsurgery
Authors: Patrícia S Sousa, Helena Silveira, Gil Coutinho, Cecília Pereira, Carla P Moura
Journal: Cureus (2024)
Keywords: co2 laser, dysphagia, endoscopic surgery, transoral microsurgery, zenker’s diverticulum
MeSH terms: Case Reports

The authors present a case of a 36-year-old woman with a recurrent throat foreign body sensation and persistent dysphagia. On physical examination, a polypoid mass was visible at the postcricoid region, mobile with swallowing. A barium swallowing test confirmed the diagnosis of Zenker's diverticulum. The patient underwent transoral CO2 laser microsurgery for excision of the pharyngeal pouch. At the four-month evaluation, the patient was remarkably asymptomatic and without evidence of recurrence. This clinical case illustrates in detail the endoscopic view of the pre and postoperative aspects of the pharyngeal pouch, showing a step-by-step transoral CO2 laser microsurgery technique, with video.
Hibernoma: a case report of a rare cardiac tumour
Authors: David Cistulli, Farrah Othman, Rooshdiya Karim, Rajesh Puranik
Journal: Eur Heart J Case Rep (2023)
Keywords: cardiac biopsy, cardiac tumour, case report, hibernoma, lipoma
MeSH terms: Case Reports

Background:
A cardiac hibernoma is a rare phenomenon, with just a handful of reports in the literature. They are difficult to characterize with conventional imaging including echocardiography, computed tomography (CT), cardiac magnetic resonance (CMR), or positron emission tomography (PET). Their definitive diagnosis relies primarily on histopathology via either endovascular or surgical biopsy. Previous case reports have entailed surgical excision followed by histopathology; however, surgery may be unfavourable in some patients with increased perioperative risk.
Case summary:
We present the case of a 57-year-old woman who was referred to our cardiology service with an interatrial lipomatous mass found incidentally on chest CT for assessment of rib fractures. She had 6 months of unexplained syncope, which was attributed to superior vena cava (SVC) compression demonstrated by chest CT. The mass had benign characteristics on echocardiography, CT, and CMR but was glucose-avid on PET, which indicated a possible malignancy such as liposarcoma. Her comorbid and very significant airways disease precluded her from surgical excision, so instead, endovascular biopsy was performed. Histopathology showed brown fat which was negative for mouse double minute 2 amplification on fluorescence in situ hybridisation testing; hence, a diagnosis was made of hibernoma, a rare benign tumour of brown fat. Given the benign diagnosis and her surgical risk with severe chronic obstructive pulmonary disease, a multidisciplinary recommendation was made favouring conservative management, with careful ongoing follow-up and the consideration of SVC stenting if symptoms progressed.
Discussion:
The definitive diagnosis of a cardiac hibernoma is complex and relies heavily on histopathology due to the contradictory findings on chest imaging. Careful consideration of management within a multidisciplinary team setting is essential to achieve a successful outcome.
Case Reports of TFE3-Rearranged Renal Cell Carcinoma: FDG-PET Uptake Might Help Diagnosis
Authors: Sho Murakami, Keita Nagawa, Takanori Inui, Aya Yamamoto, Mizuka Suzuki, Fumitaka Koga, Toru Motoi, Yasunobu Takaki
Journal: J Kidney Cancer VHL (2023)
Keywords: fdg pet-ct, suvmax, tfe3-rearranged, xp112 translocation, case reports
MeSH terms: Case Reports

Translocation and transcription factor E3 (TFE3)-rearranged renal cell carcinoma (RCC) is a rare subtype of RCCs characterised by the fusion of the TFE3 transcription factor genes on chromosome Xp11.2 with one of the multiple genes. TFE3-rearranged RCC occurs mainly in children and adolescents, although middle-aged cases are also observed. As computed tomography (CT)/magnetic resonance imaging (MRI) findings of TFE3-rearranged RCC overlap with those of other RCCs, differential diagnosis is often challenging. In the present case reports, we highlighted the features of the fluorine-18-labelled fluorodeoxyglucose positron emission tomography with CT (FDG PET-CT) in TFE3-rearranged RCCs. Due to the rarity of the disease, FDG PET-CT features of TFE3-rearranged RCC have not yet been reported. In our cases, FDG PET-CT showed high standardised uptake values (SUVmax) of 7.14 and 6.25 for primary tumours. This might imply that TFE3-rearranged RCC has high malignant potential. This is conceivable when the molecular background of the disease is considered in terms of glucose metabolism. Our cases suggest that a high SUVmax of the primary tumour is a clinical characteristic of TFE3-rearranged RCCs.
A case of immunotherapy-induced thyroiditis
Authors: George Pears, Abhishek Mahajan, Anna Olsson-Brown, Joseph Sacco
Journal: Explor Target Antitumor Ther (2024)
Keywords: immunotherapy, cancer, endocrinology, melanoma, radiology, thyroiditis
MeSH terms: Case Reports

Immunotherapy treatments for cancer are known to cause adverse thyroid events which present a diagnostic challenge to clinicians and radiologists. This case report highlights the importance of a high clinical index of suspicion and careful assessment of the thyroid on serial imaging studies to make the diagnosis. The case involves a 65-year-old male with malignant melanoma who was started on immunotherapy as part of a clinical trial. He developed thyroid dysfunction followed by an attack of acute neck pain. Ultrasound of his thyroid was performed which showed significant atrophy. A review of previous imaging was undertaken which confirmed the patient had suffered from thyroiditis and subsequent atrophy. Following this, the diagnosis of immunotherapy-induced thyroid dysfunction was made. Thyroxine supplementation and steroid dose were then adjusted causing his thyroid function and symptoms to improve. Immunotherapy agents for cancers are becoming more and more common. As the case report shows, physicians and radiologists will need to be vigilant to diagnose and treat any adverse events.
Infant with diffuse large B-cell lymphoma identified postmortem with homozygous founder Slavic RAG1 variant: a case report and literature review
Authors: Tatiana P Volodashchik, Ekaterina A Polyakova, Taisia M Mikhaleuskaya, Inga S Sakovich, Aleksandra N Kupchinskaya, Aliaxandr Ch Dubrouski, Mikhail V Belevtsev, Joseph F Dasso, Dzmitry S Varabyou, Luigi D Notarangelo, Jolan E Walter, Svetlana O Sharapova
Journal: Front Pediatr (2024)
Keywords: rag deficiency, case report, infant, lymphoma, malignancy in scid
MeSH terms: Case Reports

Background and aims:
There is an increased risk of lymphomas in inborn errors of immunity (IEI); however, germline genetic testing is rarely used in oncological patients, even in those with early onset of cancer. Our study focuses on a child with a recombination-activating gene 1 (RAG1) deficiency who was identified through a screening program for Slavic founder genetic variants among patients who died with malignancy at an early age in Belarus.
Results:
We identified one homozygous founder RAG1 variant out of 24 available DNA samples from 71 patients who developed lymphoma aged <3 years from the Belarusian cancer registry between 1986 and 2023. Our patient had an episode of pneumonia at 3 months of age and was hospitalized for respiratory distress, candida-positive lung disease, and lymphadenopathy at 14 months of age. The diagnosis of Epstein-Barr virus (EBV)-positive diffuse large B-cell lymphoma (DLBCL) was established. The patient had a normal lymphocyte count that decreased over time. One month after chemotherapy initiation, the patient died due to sepsis and multiple organ failure without a genetic diagnosis. In a retrospective analysis, T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) were undetectable in peripheral blood.
Conclusions:
A targeted screening program designed to detect a Slavic founder variant in the RAG1 gene among children revealed a 14-month-old Belarusian male infant with low TREC levels who died of EBV-driven DLBCL and complications of chemotherapy including infections. This case highlights how patients with IEI and recurrent infections may develop serious non-infectious complications, such as fatal malignancy. It also emphasizes the importance of early identification, such as newborn screening for severe combined immune deficiency. Earlier diagnosis of RAG deficiency could have prompted hematopoietic stem cell transplant well before the DLBCL occurrence. This likely would impact the onset and/or management strategies for the cancer.
A case report of parotid gland epithelioid hemangioendothelioma
Authors: Ke Wang, Jianhong Hu, Jiazhu Wen, Shuxia Zhou, Linfeng Ye, Chun Fang, Jiacheng Guan, Xiao Luo
Journal: Front Surg (2024)
Keywords: mri, epithelioid hemangioendothelioma, imaging diagnosis, parotid gland, surgical treatment
MeSH terms: Case Reports

Epithelioid hemangioendothelioma (EHE) is a rare low-grade malignant vascular tumor. It mainly occurs in the liver, lungs, bones, and other parts of the body. Reports of epithelioid hemangioendothelioma in the parotid gland are rare in both domestic and international literature. Here, we present a case report of a parotid gland epithelioid hemangioendothelioma, including its complete clinical course and imaging findings, to improve the diagnosis and treatment of this unusual disease.
Case presentation:
The patient, a 75-year-old female, presented with a swelling around the right ear for 2 months and pain for 20 days. Enhanced MRI of the parotid gland revealed a well-defined, round mass with homogeneous signal intensity. The mass showed low signal intensity on T1-weighted imaging, high signal intensity on T2-weighted imaging, nodular low signal intensity within, significant high signal intensity on DWI sequence, low signal intensity on ADC sequence, and heterogeneous enhancement in the arterial phase after intravenous injection of Gd-DTPA. Nodular non-enhancing low signal intensity was observed internally, and slight clearance was seen in the venous phase. The initial diagnosis before surgery was a benign lesion, but after histopathological and immunohistochemical examination, it was confirmed as epithelioid hemangioendothelioma.
Intervention:
Complete tumor resection was performed.
Results:
The patient experienced a favorable recovery, with meticulous follow-up conducted for up to 1 year revealing no signs of recurrence or metastasis. Continued patient surveillance is ongoing to substantiate and validate the long-term efficacy of the treatment.
Conclusion:
Due to the extreme rarity of parotid gland epithelioid hemangioendothelioma, it often leads to a high misdiagnosis rate. The most common misdiagnosis is salivary gland lymphoma, followed by epithelioid hemangiosarcoma. When the lesion is multifocal, fusiform, with internal necrosis, and shows punctate low signal intensity on T2-weighted imaging, significant enhancement in the arterial phase, particularly with more pronounced peripheral enhancement, and persistent enhancement in the venous and delayed phases, epithelioid hemangioendothelioma should be considered. However, the current clinical diagnosis of epithelioid hemangioendothelioma still primarily relies on immunohistochemical methods.
Invasive papillary carcinoma of the breast
Authors: Shijing Wang, Qingfu Zhang, Xiaoyun Mao
Journal: Front Oncol (2024)
Keywords: invasive papillary carcinoma, papillary neoplasms, pathology, rare breast cancer, treatment
MeSH terms: Review

Invasive papillary carcinoma is a rare form of breast cancer that is more likely to occur in postmenopausal women. Previous studies have been limited to case reports and small retrospective studies, leading to low awareness of this type of tumor and difficult clinical management. According to the available literature, invasive papillary carcinoma exhibits unique pathological features and biological behaviors. Invasive papillary carcinoma is mostly luminal type, with a low rate of lymph node metastasis, which underlies its favorable prognosis. The effectiveness of adjuvant therapy in reducing tumor burden and improving prognosis in patients with invasive papillary carcinoma remains uncertain. Due to the rarity of the lesion, conducting prospective clinical trials is impractical. The use of biological models, such as organoids, can help alleviate the impact of the scarcity of this condition on research. In addition, invasive papillary carcinoma is affected by specific genomic events, and more extensive studies of gene expression profiling may provide molecular-level insights to make optimal therapeutic decisions.