OpenMed/multicare-articles huggingface dataset:
A case of low-grade endometrial stromal sarcoma presented as an intramyometrial mass mimicking uterine leiomyoma on MRI
Authors: Soichiro Tamada, Hiromi Edo, Taishi Sakima, Ryo Tanaka, Kohei Shikata, Soko Nishitani, Morikazu Miyamoto, Masashi Takano, Keisuke Kuboshima, Kosuke Miyai, Sho Ogata, Hiroshi Shinmoto
Journal: BJR Case Rep (2023)
Keywords: mri, leiomyoma, low-grade endometrial stromal sarcoma
MeSH terms: Case Reports

A low-grade endometrial stromal sarcoma (ESS) has a pattern of presenting as an intramyometrial mass and is often misdiagnosed as cellular leiomyoma or degenerative uterine leiomyoma. A low-grade ESS is a malignant tumour that requires total hysterectomy with bilateral salpingo-oophorectomy; while a leiomyoma is a benign tumour and could be acceptable for enucleation. As the treatment strategies differ between a low-grade ESS and leiomyoma, radiologists should be familiar with the characteristic MRI findings of a low-grade ESS. A 51-year-old woman with abnormal uterine bleeding had been observed for 2 years at a previous hospital for a uterine leiomyoma based on MRI findings. A contrast-enhanced MRI demonstrated an intramyometrial mass composed of three components with the hypointense rim on T2-weighted images (T2WI): the first component was a homogeneous solid structure with mild hyperintensity on T2WI with a low apparent diffusion coefficient value; the second component was cystic; the third component was a structure of low signal intensity on T2WI similar to the muscle. Although a degenerative uterine leiomyoma was a differential diagnosis, these MRI findings were suggestive of a low-grade ESS. A total abdominal hysterectomy, bilateral salpingo-oophorectomy, pelvic lymphadenectomy, and partial omentectomy were performed. The pathological diagnosis was a low-grade ESS. In a low-grade ESS, there are three major patterns of MRI findings: one of these patterns is the less popular but clinically important intramyometrial mass pattern, which can be misdiagnosed as a leiomyoma, and this case conformed to this pattern.
Perianal Linear Syringocystadenoma Papilliferum: A Case Report with Review of the Literature
Authors: Naser Tayyebi Meibodi, Yalda Nahidi, Mostafa Izanlu, Negin Davoodi, Sima Davoodi
Journal: Iran J Pathol (2023)
Keywords: adnexal tumor, apocrine gland, eccrine gland, linear, syringocystadenoma papilliferum
MeSH terms: Case Reports

Syringocystadenoma papilliferum is a rare benign adnexal tumor that originates from the apocrine and eccrine glands. It mainly manifests as a solitary lesion in the head and neck; however, rarely, it may involve the trunk and limbs, typically with a linear pattern. Here, we report an extremely rare case of congenital linear syringocystadenoma papilliferum on the left buttock near the anus in a 6-year-old girl. This lesion should be considered in the list of differential diagnosis of linear lesions in order to prevent complications with proper diagnosis, treatment or follow-up.
Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in a patient with metastatic castration sensitive prostate cancer
Authors: Henning Zelba, Armin Rabsteyn, Oliver Bartsch, Christina Kyzirakos, Simone Kayser, Marcel Seibold, Johannes Harter, Pauline Latzer, Dirk Hadaschik, Florian Battke, Alexander Golf, Matthew B Rettig, Saskia Biskup
Journal: Front Immunol (2023)
Keywords: apc, neoantigen, peptide, prostate cancer, vaccination
MeSH terms: Cancer Vaccines, Prostatic Neoplasms / drug therapy, Prostatic Neoplasms / therapy, Case Reports, Antigens, Neoplasm, CD8-Positive T-Lymphocytes, Castration, Humans, Male, Mutation, Peptides, Vaccination, Vaccines, Subunit, Cancer Vaccines, Vaccines, Subunit, Peptides, Antigens, Neoplasm

Localized prostate cancer is curable, but metastatic castration sensitive prostate cancer has a low 5-year survival rate, while broad treatment options are lacking. Here we present an mCSPC patient under remission receiving individualized neoantigen-derived peptide vaccination as recurrence prophylaxis in the setting of an individual treatment attempt. The patient was initially analyzed for somatic tumor mutations and then consecutively treated with two different peptide vaccines over a period of 33 months. The first vaccine contained predicted HLA class I binding peptides only whereas the second vaccine contained both predicted HLA class I and II binding peptides. Intracellular cytokine staining after 12 day in-vitro expansion measuring four T-cell activation markers (IFNg, TNF-α, IL-2, CD154) was used to determine vaccine-induced T-cell responses. While the first vaccine induced only one robust CD4+ T-cell response after 21 vaccinations, co-vaccination of HLA class I and II peptides induced multiple strong and durable CD4+ and CD8+ T-cell responses already after sixth vaccinations. The vaccine-induced immune responses were robust and polyfunctional. PSA remained undetectable for 51 months. The results presented here implicate that neoantigen-targeting vaccines might be considered for those cancer subtypes where therapeutic options are limited. Furthermore, our findings suggest that both HLA class I and II restricted peptides should be considered for future peptide vaccination trials.
Histopathological, Demographic, and Clinical Signatures of Medulla Oblongata Germ Cell Tumors: A Case Report With the Review of Literature
Authors: Daisuke Sato, Shota Tanaka, Hirokazu Takami, Shunsaku Takayanagi, Yurie Rai, Munetoshi Hinata, Atsuto Katano, Nobuhito Saito
Journal: Cureus (2024)
Keywords: brainstem tumor, germ-cell tumor, germinoma, hydrocephalus, medulla oblongata
MeSH terms: Case Reports

The medulla oblongata is one of the rarest sites of occurrence for germ cell tumors (GCTs) of the central nervous system. As there is scant data regarding epidemiology, clinical presentations, optimal intervention, and long-term prognosis, we aimed to delineate the features of this rare entity by presenting our representative case and performing a quantitative review of the literature. A 24-year-old woman presented to our department with vertigo and swallowing difficulties. Magnetic resonance imaging revealed a homogenously enhanced exophytic lesion arising from the medulla oblongata and extending to the fourth ventricle. Surgical resection was performed and a histological diagnosis of pure germinoma was made. The patient underwent chemotherapy and whole-ventricular irradiation. No recurrence has been experienced for 4 months after the surgery. According to the literature, the prognosis of GCTs at the medulla oblongata seems no worse than those at typical sites. Striking features including occurrence at an older age, female preponderance, and a predominance of germinoma were noteworthy. The pattern of local recurrence suggests extensive radiation coverage is not a prerequisite. Special attention is needed for cardiac and respiratory functions as the main factors eliciting mortality.
A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review
Authors: Xiaoqing Zhang, Wujun Jiang, Zhongqin Jin, Xueqian Wang, Xiaoxiang Song, Shan Huang, Min Zhang, Huigang Lu
Journal: Front Oncol (2023)
Keywords: artemis, dclre1c, hypomorphic mutation, radiosensitive immunodeficiency, severe combined immunodeficiency
MeSH terms: Case Reports

Introduction:
Hypomorphic mutations of DCLRE1C cause an atypical severe combined immunodeficiency (SCID), and Epstein-Barr virus (EBV)-related colon lymphoma is a rare complication.
Case presentation:
A teenage boy presented with colon EBV-related colon lymphoma, plantar warts, and a history of recurrent pneumonia. His peripheral blood lymphocyte count and serum level of immunoglobulin (Ig) G were normal, but he exhibited a T+B-NK+ immunophenotype. Genetic analysis by whole exome sequencing revealed compound heterozygous mutations of DCLRE1C (NM_001033855.3), including a novel paternal splicing donor mutation (c.109 + 2T>C) in intron 1, and a maternal c.1147C>T (p.R383X) nonsense mutation in exon 13. Based on his clinical features and genetic results, the diagnosis of atypical SCID with colon lymphoma was established. Our review shows that seven patients, including our patient, have been reported to develop lymphoma, all with hypomorphic DCLRE1C mutations. Among these cases, six had EBV-related B-cell lineage lymphoma, and one had Hodgkin lymphoma with EBV reactivation. Unfortunately, all of the patients died.
Conclusion:
Recognizing the radiosensitivity of the disease is critical for the prognosis. Hematopoietic stem cell transplantation before being infected with EBV is an optimal treatment.
Traumatic Disruption of Profunda Femoris Artery Branch Following Treatment of an Intertrochanteric Hip Fracture With a Cephalomedullary Nail
Authors: Nathan C Beckett, Jack Haglin, Paul Van Schuyver, Mark J Spangehl, Maziyar A Kalani, Mark K Lyons, Abhijith R Bathinin, Joshua S Bingham
Journal: Case Rep Orthop (2024)
MeSH terms: Case Reports

Introduction: Surgical management of intertrochanteric hip fractures is a common surgery with low rates of intraoperative complications. Vascular injuries are exceptionally rare when placing an intramedullary nail without open reduction. There are very few reported cases of direct arterial injury and active bleed at the level of the distal interlocking screw following closed reduction and intramedullary nailing of a hip fracture. We report one such case. Case Presentation: An 88-year-old female presented to the emergency department with a left intertrochanteric hip fracture. Closed reduction with a cephalomedullary nail fixation of the left hip fracture occurred as planned without any obvious intraoperative technical issues. The patient remained stable intraoperatively. No open reduction was required. Postoperatively, the patient developed hemorrhagic shock and required massive transfusion protocol. Angiography demonstrated an intramuscular hematoma at the level of the distal intramedullary nail interlocking screw with active extravasation. The patient subsequently required embolization. Nine days following surgery, she began Eliquis for DVT prophylaxis and was ambulating independently with signs of hematoma resolution. Discussion: Profunda femoris artery injury can stem from various mechanisms during surgery. Atherosclerosis places patients at a higher risk of complication due to rigid vessels. In this case, it is believed that drilling beyond the medial femoral cortex led to the arterial injury. Conclusion: Care should be taken to prevent drills from plunging beyond the medial femoral cortex during surgery. Cautious observation of patient's vitals and clinical course can allow for early detection of vascular complication.
An aggressive cabergoline-resistant, temozolomide-responsive macroprolactinoma due to a germline SDHB pathogenic variant in the absence of paraganglioma or pheochromocytoma
Authors: Ali S Alzahrani, Abdulghani Bin Nafisah, Meshael Alswailem, Yosra Moria, Dagmara Poprawski, Hindi Al-Hindi, Karel Pacak
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: sdhb, cabergoline, macroprolactinoma, pituitary adenoma, temozolomide
MeSH terms: Adenoma / genetics, Adrenal Gland Neoplasms / genetics, Paraganglioma / diagnosis, Paraganglioma / drug therapy, Paraganglioma / genetics, Pheochromocytoma / genetics, Pituitary Neoplasms / drug therapy, Pituitary Neoplasms / genetics, Prolactinoma / drug therapy, Prolactinoma / genetics, Case Reports, Adult, Cabergoline, Female, Humans, Neoplasm Recurrence, Local, Succinate Dehydrogenase / genetics, Temozolomide / therapeutic use, Cabergoline, Temozolomide, SDHB protein, human, Succinate Dehydrogenase

Context:
Germline succinate dehydrogenase subunit B (SDHB) pathogenic variants are characteristic of familial paraganglioma (PGL) syndrome type 4. This syndrome frequently presents with abdominal PGL and has high tendency for locally aggressive behavior and distant metastasis. The vast majority of pituitary adenomas (PAs) are sporadic. However, PAs can be part of a number of familial tumor syndromes such as multiple endocrine neoplasia type 1 (MEN 1) or more rarely in association with pheochromocytoma and PGL (referred to as 3P syndrome). Only a limited number of PAs in association with SDHB-related PGL has been reported and the vast majority occurred subsequently or simultaneously with pheochromocytoma/PGL (collectively abbreviated as PPGL). In this report, we describe a young patient who had a giant pituitary macroprolactinoma resistant to large doses of cabergoline (CBG) and external beam radiotherapy (XRT). The patient did not have personal history of PPGL but was found to carry a germline SDHB pathogenic variant.
Case report:
A 38-year-old woman presented with headache, visual disturbances and galactorrhea and was found to have a 34-mm macroprolactinoma. She was treated with CBG 3-4 mg per week but PA continued to grow and caused significant cranial pressure symptoms. She underwent two transsphenoidal surgeries with rapid tumor recurrence after each one. She received XRT but PA continued to grow. She was finally treated with temozolomide with excellent response. Whole exome and subsequent Sanger sequencing confirmed that she has a pathogenic monoallelic SDHB mutation (NM_003000:c.C343T, p.R115*). PA tissue showed loss of heterozygosity for the same mutation and absent SDHB immunostaining confirming the pathogenic role of this SDHB mutation.
Conclusion:
Germline SDHB mutations can rarely cause PA in the absence of PPGL. They should be considered as a possible cause of aggressiveness and resistance to dopamine agonists in similar cases.
Case report: EGFR-TKI rechallenge after osimertinib-induced interstitial lung disease: a case report and literature review
Authors: Xiaofei Gu, Yonghong Zhong, Huaqiong Huang
Journal: Front Pharmacol (2024)
Keywords: epidermal growth factor receptor-tyrosine kinase inhibitor (egfr-tki), interstitial lung disease (ild), non-small cell lung cancer (nsclc), osimertinib, rechallenge
MeSH terms: Case Reports

Background:
Osimertinib, a third-generation tyrosine kinase inhibitor (TKI), has demonstrated significant efficacy in treating non-small cell lung cancer (NSCLC) patients with epidermal growth factor receptor (EGFR) mutations. However, EGFR-TKI-induced interstitial lung disease (ILD), a well-known adverse effect, can seriously affect the treatment outcome. There is currently no international consensus on the efficacy and safety of re-administration of EGFR-TKI after EGFR-TKI-induced ILD.
Case summary:
We report a case of a 62-year-old male with stage IV lung adenocarcinoma and EGFR L858R mutation who was treated with osimertinib at a dose of 80 mg/day as first-line therapy. On the sixth day of treatment, the patient developed grade 4 ILD, chest tightness, shortness of breath, and paroxysmal dry cough. Arterial blood gas analysis indicated the presence of type I respiratory failure, while the chest CT scan revealed newly developed ground-glass opacities in both lungs and a considerable amount of pleural effusion on the left side. Subsequently, the patient was administered methylprednisolone for anti-inflammatory therapy, in conjunction with oxygen therapy, anti-infection treatment, and closed thoracic drainage, which resulted in a favourable recovery and discharge after 18 days. During this period, the patient adhered to third-generation EGFR-TKI oral targeted therapy. Nevertheless, within a week of discharge, the patient was readmitted due to the recurrence of chest tightness and shortness of breath. A chest CT scan indicated a recurrent ILD. Despite the administration of high-dose methylprednisolone for 9 days, the patient's condition continued to deteriorate, ultimately resulting in death.
Conclusion:
It is of the utmost importance to conduct a meticulous evaluation of the severity of osimertinib-induced ILD in order to ascertain the potential risks and benefits of EGFR-TKI rechallenge. Particularly, for patients with grade 4 ILD, firm drug discontinuation should be considered.
Bilateral Sequential Abducens Nerve Palsy After Pfizer-BioNTech COVID-19 Vaccine (BNT162b2): A Case Report and Literature Review
Authors: Malak F Albattah, Kefah Al-Hayk, Mutasim Albattah, Mohammad A Alshrouf
Journal: Cureus (2024)
Keywords: abducens nerve palsy, coronavirus, covid-19, ophthalmoplegia, sixth nerve palsy, vaccination
MeSH terms: Case Reports

This case report details the occurrence of bilateral sequential abducens nerve palsy in a previously healthy 42-year-old woman two days after receiving her first dose of the Pfizer-BioNTech COVID-19 vaccine (BNT162b2). Despite the widespread global administration of COVID-19 vaccines, instances of abducens palsy following vaccination are limited in the available literature. Considering the temporal association between vaccination and symptom onset, the absence of underlying medical conditions predisposing to such neurological manifestations, normal brain imaging results, the occurrence of other cranial palsies post-vaccination, and analogous occurrences after different vaccinations, we propose a plausible connection between the patient's abducens palsy and the COVID-19 vaccination. Our findings contribute to the growing body of evidence regarding the side effects and safety profile of COVID-19 vaccines. Importantly, the resolution of symptoms with conservative management and the uneventful administration of the second vaccine dose suggest that the observed abducens palsy may be a transient and isolated reaction.
Unilateral Enlarged Right Accessory Axillary Breast Tissue in a Male: A Case Report
Authors: Sourabh Singh, Amit Kumar, Antima Yadav, Raghvendra P Singh, Ajeet P Maurya
Journal: Cureus (2024)
Keywords: accessory breast tissue, adult male, axillary swelling, fibrofatty breast tissue, fibrous echogenic stroma
MeSH terms: Case Reports

Accessory breast tissue, associated with polymastia and polythelia, presents challenges and concerns, particularly when patients fear malignancy. While occurring in 1-6% of cases, accessory breasts, often located bilaterally in the axillae, necessitate careful examination. We report a 35-year-old male with painful axillary swelling who underwent high-resolution ultrasonography (HR-USG) and fine-needle aspiration cytology (FNAC), revealing proper axillary breast tissue. Subsequent excision biopsy confirmed accessory axillary breast without malignancy. In conclusion, surgical removal of accessory axillary breasts is advisable, addressing cosmetic concerns and minimizing cancer risks.
Supratentorial meningeal melanocytoma mimicking meningioma: case report and literature review
Authors: Mayle Gomes Ferreira de Araújo, Luiz Euripedes Almondes Santana Lemos, Pedro Lucas Negromonte Guerra, Fernanda Marcia Dos Santos Lima Didjurgeit, Auricelio Batista Cezar Jr, Igor Vilela Faquini, Hildo Rocha Cirne de Azevedo Filho
Journal: Pathol Oncol Res (2024)
Keywords: brain tumor, melanocytoma, primary brain tumor, primary melanocytic tumor, primary meningeal melanocytomas
MeSH terms: Melanoma / diagnosis, Melanoma / pathology, Melanoma / surgery, Meningeal Neoplasms / diagnosis, Meningeal Neoplasms / pathology, Meningeal Neoplasms / surgery, Meningioma / diagnosis, Meningioma / pathology, Meningioma / surgery, Nevus, Pigmented / pathology, Skin Neoplasms / pathology, Supratentorial Neoplasms / pathology, Review, Case Reports, Adult, Female, Humans, Magnetic Resonance Imaging, Melanocytes

Introduction: Primary melanocytic tumors originating from CNS melanocytes are rare, with a low incidence of 0.7 cases per 10 million annually. This study focuses on primary leptomeningeal melanocytomas, emphasizing their epidemiology, clinical characteristics, and diagnostic challenges. Despite their infrequency, these tumors warrant attention due to their unique features and potential for local recurrence. Case Report: A 32-year-old female presented with syncope and seizures, leading to the discovery of two left-sided supratentorial lesions initially misidentified as convexity meningiomas. Detailed imaging suggested meningioma-like features, but intraoperative findings revealed unexpected hyperpigmented lesions. Histopathological examination, supported by immunohistochemistry, confirmed primary leptomeningeal melanocytoma. The surgical approach and subsequent management are discussed. Discussion: The discussion emphasizes challenges in diagnosing primary leptomeningeal melanocytomas. Treatment debates, especially regarding adjuvant radiotherapy, are explored. Recurrence risks stress the importance of vigilant follow-up, advocating for complete surgical resection as the primary approach. The rarity of supratentorial cases adds complexity to diagnosis, necessitating a multidisciplinary approach. Insights from this case contribute to understanding and managing primary leptomeningeal melanocytomas, addressing challenges in differentiation from more common tumors and prompting ongoing research for refined diagnostics and optimized treatments. Conclusion: This study contributes insights into primary leptomeningeal melanocytomas, highlighting their rarity in supratentorial regions. The case underscores the importance of a multidisciplinary approach, incorporating clinical, radiological, and histopathological expertise for accurate diagnosis and tailored management. Ongoing research is crucial to refine treatment strategies, enhance prognostic precision, and improve outcomes for individuals with this uncommon CNS neoplasm.
A case of surgically treated non-metastatic SMARCA4-deficient undifferentiated thoracic tumor: a case report and literature review
Authors: Cong Yin, Zheng-Jia Liu, Chao He, Hai-Xiang Yu
Journal: Front Oncol (2024)
Keywords: pet/ct, smarca4-ut, lung cancer, non-metastatic smarca4-ut, treatment of smarca4-ut
MeSH terms: Case Reports

SMARCA4-deficient undifferentiated thoracic tumor (SMARCA4-UT) is a rare malignant tumor characterized by inactivation of the SMARCA4 gene and the presence of undifferentiated or rhabdoid morphology in the tissue. This tumor is highly invasive, typically diagnosed at advanced stages III or IV, and commonly involves thoracic structures, such as the mediastinum and chest wall. Reported cases are limited and treatment guidelines have not yet been established. Here, we present a rare case of surgically treated non-metastatic SMARCA4-UT. The patient presented with blood-tinged sputum, dyspnea, and a history of heavy smoking, and underwent surgery after preoperative evaluation ruled out contraindications. The tumor was successfully removed along with the relevant lymph nodes; analysis determined it to be stage IIB T3N0M0. No recurrence was detected at two months post-surgery. However, four months after surgery, the tumor recurred and invaded the adjacent ribs. The diagnosis, differential diagnosis, and treatment of SMARCA4-deficient undifferentiated lung tumors is considered. The combination of chemotherapy and immunotherapy has shown efficacy, and other treatments such as anti-angiogenic drugs, histone deacetylase inhibitors (HDACi), enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2) inhibitors, and oxidative phosphorylation (OXPHOS) inhibitors may also be beneficial in treating SMARCA4-UT.