OpenMed/multicare-articles huggingface dataset:
Durable Complete Response to Pembrolizumab in Esophageal Squamous Cell Carcinoma With Divergent Microsatellite Status: A Case Report
Authors: Tian Zeng, Lei Zhang, Can Chen, Xiang Zhao, Xiaoqing Liu, Fengwei Ran, Tingting Yong, Ying Yang, Henghui Zhang, Yanling Zhang
Journal: Front Oncol (2021)
Keywords: dna damage repair, complete response, esophageal squamous cell carcinoma, microsatellite instability, pembrolizumab
MeSH terms: Case Reports

Microsatellite instability-high (MSI-H) is widely believed to be a biomarker for immune checkpoint inhibitors (ICIs) such as pembrolizumab in solid tumors. However, due to the low prevalence of MSI-H in most cancers, it tends to be insufficient to identify whether patients should receive ICIs according to this biomarker alone. Here, we report a Chinese esophageal squamous cell carcinoma (ESCC) patient with unusual divergent MSI status between the primary lesion (MSS) and metastatic lesion (MSI-H) which developed after platinum-based therapy and radiotherapy. Both his primary and metastatic tumors responded well to pembrolizumab-containing therapies or pembrolizumab monotherapy and maintained a complete response for over 24 months. Whole-exome sequencing and multiplex immunohistochemistry were used to examine his tissue specimens. Notably, there were multiple high-frequency mutations of DDR (DNA damage repair) genes shared in the primary lesion and metastatic lesion, especially in the latter. Besides, we observed considerable degrees of infiltrating CD3+/CD8+ lymphocytes in both of his primary tumor and metastatic tumor without obvious difference, suggesting that the conversion of microsatellite status had little effect on the infiltration of lymphocytes. Collectively, given the predictive role of DDR alterations for ICIs in other malignancies, the alterations of DDR genes might also be promising biomarkers in ESCC individuals receiving ICIs.
Three cases of elongated mandibular coronoid process with different presentations
Authors: Mehmet Ilguy, Pinar Kursoglu, Dilhan Ilguy
Journal: Iran J Radiol (2014)
Keywords: cone-beam computed tomography, mandible, mouth
MeSH terms: Case Reports

Abnormal elongation of the mandibular coronoid process is rare and its etiology is not yet elucidated. The aim of this report is to demonstrate and discuss the relationship between elongated mandibular coronoid process and limitation of mouth opening with cone beam computed tomography. Although the clinical characteristic of elongation of the coronoid process is mandibular limitation, in this report, one case had problem with mouth opening. Axial scans revealed that the distance between the coronoid process and the inner face of the frontal part of the zygomatic bone may cause limitation in mouth opening. In conclusion, instead of the length, the distance between the coronoid process and the inner face of the frontal part of the zygomatic bone may be the actual reason for limitation of mouth opening. This may prevent misdiagnosis.
Recurrent Glioma With Lineage Conversion From Oligodendroglioma to Astrocytoma in Two Cases
Authors: Jo-Heon Kim, Woo-Youl Jang, Tae-Young Jung, Shin Jung, Kyung-Keun Kim, Hyung-Seok Kim, Eun-Hee Kim, Min-Cheol Lee, Kyung-Sub Moon, Kyung-Hwa Lee
Journal: Front Oncol (2019)
Keywords: 1p/19q-codeletion, cell lineage, clonal evolution, genetic heterogeneity, mixed oligoastrocytoma, recurrent glioma
MeSH terms: Case Reports

Following the introduction of the molecular classification of gliomas by the WHO in 2016, molecularly-proven lineage conversion during glioma recurrence has never been reported. The reported two cases were initially diagnosed as oligodendroglioma with 1p/19q-codeletion and mutation of isocitrate dehydrogenase 1 (IDH1)-R132H. The recurrent tumors showed loss of alpha-thalassemia/mental retardation X-linked (ATRX) expression, strong P53 positivity, and 1p/19q-nondeletion. Next generation sequencing analysis performed on the first case confirmed the transition of molecular traits from oligodendroglioma to astrocytoma. An IDH mutation of R132H was preserved in the episodes of recurrence, but ATRX and TP53 mutations were newly acquired and TERT promoter mutation C228T was lost at the most recent recurrence. The issue in question for the presented cases is whether the original tumors were pure oligodendrogliomas that then transdifferentiated into astrocytomas, or whether the original tumor was an oligoastrocytoma having oligodendroglioma cells that outnumbered the astrocytoma cells and where the astrocytoma cells becoming more dominant over the episodes of recurrence. With the recognition of the possibility of lineage conversion, our study suggests that molecular examination should be performed to adjust therapeutic strategies in recurrent gliomas. Indeed, our observation of lineage conversion in glioma recurrence calls into question the current distinction drawn between oligodendroglioma, astrocytoma and oligoastrocytoma, rather than simply bidding "farewell to oligoastrocytoma."
Intraoperative Monitoring of the Cochlear Nerve during Neurofibromatosis Type-2 Vestibular Schwannoma Surgery and Description of a "Test Intracochlear Electrode"
Authors: Anand V Kasbekar, Yu Chuen Tam, Robert P Carlyon, John M Deeks, Neil Donnelly, James Tysome, Richard Mannion, Patrick R Axon
Journal: J Neurol Surg Rep (2019)
Keywords: eabr, cochlear nerve monitoring, hearing preservation, neurofibromatosis type 2
MeSH terms: Case Reports

Objectives A decision on whether to insert a cochlear implant can be made in neurofibromatosis 2 (NF2) if there is objective evidence of cochlear nerve (CN) function post vestibular schwannoma (VS) excision. We aimed to develop intraoperative CN monitoring to help in this decision. Design We describe the intraoperative monitoring of a patient with NF2 and our stimulating and recording set up. A novel test electrode is used to stimulate the CN electrically. Setting This study was set at a tertiary referral center for skull base pathology. Main outcome measure Preserved auditory brainstem responses leading to cochlear implantation. Results Electrical auditory brainstem response (EABR) waveforms will be displayed from different stages of the operation. A cochlear implant was inserted at the same sitting based on the EABR. Conclusion Electrically evoked CN monitoring can provide objective evidence of CN function after VS excision and aid in the decision-making process of hearing rehabilitation in patients who will be rendered deaf.
Burkitt Lymphoma of the Duodenum: An Uncommon Phenomenon
Authors: Fahad Malik, Manuel Gonzalez, Wahib Zafar
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Burkitt lymphoma is an aggressively growing tumor commonly found in African children, involving the jaw and facial bones. Most non-Hodgkin lymphoma tumors involve extra nodal sites like the nervous system and gastrointestinal tract. A rare variant of this type of lymphoma is found in immunocompromised patients specifically in the gastrointestinal tract with accompanying gastrointestinal symptoms. Burkitt lymphoma is a malignancy that has commonly presented in GI tract but rarely in the duodenum. This clinical variant can commonly involve stomach, ileum, and cecum. However, there is very limited data available regarding the duodenal growth of this tumor. Duodenal involvement of Burkitt lymphoma is extremely rare and accounts for < 1% of all lymphomas. We present a case report of an older patient with a duodenal Burkitt lymphoma diagnosed by biopsy. A high suspicion should be present while treating immunocompromised patients with chronic abdominal symptoms especially with complications such as bleeding or occult positive testing. Early endoscopy intervention with biopsy can help identity and treat these conditions with improved outcomes for the patients.
Basal Cell Carcinoma in Type 2 Segmental Darier's Disease
Authors: Lynne Robertson, Maxwell B Sauder
Journal: J Skin Cancer (2012)
MeSH terms: Case Reports

Background. Darier's disease (DD), also known as Keratosis Follicularis or Darier-White disease, is a rare disorder of keratinization. DD can present as a generalized autosomal dominant condition as well as a localized or segmental postzygotic condition (Vázquez et al., 2002). Clinical features of DD include greasy, warty papules and plaques on seborrheic areas, dystrophic nails, palmo-plantar pits, and papules on the dorsum of the hands and feet. Objective. We report a case of basal cell carcinoma developing in a patient with type 2 segmental DD. Conclusion. According to the current literature, Type 2 segmental disease is a rare presentation of Darier's disease with only 8 previous cases reported to date. In addition, nonmelanoma skin cancer (NMSC) arising from DD is rarely reported; however, there may be an association between DD and risk of carcinogenesis.
Case Report: Early-Onset Behavioral Variant Frontotemporal Dementia in Patient With Retrotransposed Full-Length Transcript of Matrin-3 Variant 5
Authors: Madelyn Castro, Nisha Venkateswaran, Samuel T Peters, David R Deyle, Matthew Bower, Michael D Koob, Bradley F Boeve, Keith Vossel
Journal: Front Neurol (2020)
Keywords: matrin 3, case report, frontotemporal dementia, retrotransposons, whole genome sequencing
MeSH terms: Case Reports

Frontotemporal dementia (FTD) rarely occurs in individuals under the age of 30, and genetic causes of early-onset FTD are largely unknown. The current report follows a 27 year-old patient with no significant past medical history presenting with two years of progressive changes in behavior, rushed speech, verbal aggression, and social withdrawal. MRI and FDG-PET imaging of the brain revealed changes maximally in the frontal and temporal lobes, which along with the clinical features, are consistent with behavioral variant FTD. Next generation sequencing of a panel of 28 genes associated with dementia and amyotrophic lateral sclerosis (ALS) initially revealed a duplication of exon 15 in Matrin-3 (MATR3). Whole genome sequencing determined that this genetic anomaly was, in fact, a sequence corresponding with full-length MATR3 variant 5 inserted into chromosome 12, indicating retrotransposition from a messenger RNA intermediate. To our knowledge, this is a novel mutation of MATR3, as the majority of mutations in MATR3 linked to FTD-ALS are point mutations. Genomic DNA analysis revealed that this mutation is also present in one unaffected first-degree relative and one unaffected second-degree relative. This suggests that the mutation is either a disease-causing mutation with incomplete penetrance, which has been observed in heritable FTD, or a benign variant. Retrotransposons are not often implicated in neurodegenerative diseases; thus, it is crucial to clarify the potential role of this MATR3 variant 5 retrotransposition in early-onset FTD.
IgG4-Related Hepatic Pseudotumor Masquerading as a Klatskin Tumor
Authors: Jennifer Yoon, Steve Hu, Daniel Phillips, Amir Fathi, Adnan Ameer
Journal: Case Reports Hepatol (2022)
MeSH terms: Case Reports

Immunoglobulin G subclass 4 (IgG-4)-related disease (IgG4-RD) is an uncommon immune-mediated, fibro-inflammatory disease which has garnered recognition as a systemic condition. One manifestation of the disease in the hepatobiliary system is the development of hepatic inflammatory pseudotumors. These benign tumors are often misdiagnosed as malignant tumors and undergo unnecessary hepatic resections. We present a case of IgG4-related hepatic inflammatory pseudotumor (IPT) mimicking a Klatskin tumor. A high degree of clinical suspicion and extensive workup is imperative in reaching the correct diagnosis. IgG4-related inflammatory pseudotumor is a rare entity, but an important consideration in evaluating hepatic tumors.
Metformin-Induced Lactic Acidosis: A Question of Time
Authors: Céline Bellefroid, Pierre Goffin, Julien Guntz, Marine Deville
Journal: Case Rep Crit Care (2020)
MeSH terms: Case Reports

Metformin is an oral antidiabetic largely prescribed in the treatment of type II diabetes. Overdose is associated with life-threatening lactic acidosis. We report the case of the highest metformin concentration ever described secondary to a voluntary suicidal intake. The patient developed a severe lactic acidosis and hemodynamic shock successfully treated with high-flow hemofiltration. Time to start extrarenal epuration is capital to avoid poor evolution.
Laparoscopic splenectomy for isolated splenic sarcoidosis: A case report
Authors: Manabu Mikamori, Masahiro Tanemura, Kenta Furukawa, Takuro Saito, Masahisa Ohtsuka, Yozo Suzuki, Mitsunobu Imasato, Kentaro Kishi, Hiroki Akamatsu
Journal: Int J Surg Case Rep (2019)
Keywords: case report, laparoscopy, sarcoidosis, splenectomy

Introduction:
Isolated splenic sarcoidosis is difficult to diagnosis due to its rarity. Laparoscopic splenectomy has become the gold standard for therapeutic diagnosis in patients presenting with solid splenic lesions because needle biopsy can lead to bleeding and tract seeding.
Presentation of case:
A 59-year-old female was referred to our hospital due to abnormal accumulation in the spleen on abdominal ultrasonography. Enhanced computed tomography showed three heterogeneously enhanced nodules. Magnetic resonance imaging showed hypointense nodules on T2-weighted images. The initial diagnosis was a fibrous hamartoma or an inflammatory pseudotumor. At follow-up 4 months later, the splenic nodules had increased in size, and diagnostic laparoscopic splenectomy was performed without complications. Histopathologically, the splenic nodules contained noncaseating granulomas comprising epithelioid cells, multinucleated giant cells, and asteroid inclusion bodies. Postoperatively, examinations found no other organ involvement, and the final diagnosis was isolated splenic sarcoidosis. There was no evidence of recurrence at 2 years postoperatively, and systemic treatment was not required.
Conclusion:
Radiological imaging studies are insufficient for the differential diagnosis of splenic lesions in sarcoidosis from other diseases, whereas laparoscopic splenectomy is less invasive and useful as part of the diagnostic approach.
Antigenic Mimicry in Paraneoplastic Immune Thrombocytopenia
Authors: Guillaume Vial, Etienne Rivière, Anne-Aurélie Raymond, Chloé James, Sylvaine Di-Tommaso, Nathalie Dugot-Senant, Jean-William Dupuy, Mokrane Yacoub, Marie Parrens, Fréderic Saltel, Jean-François Viallard
Journal: Front Immunol (2019)
Keywords: antigenic mimicry, immune thrombocytopenia, proteomics, solid tumors, tumor antigens
MeSH terms: Antigens, Neoplasm / immunology, Autoantibodies / immunology, Kidney Neoplasms / immunology, Molecular Mimicry, Paraneoplastic Syndromes / immunology, Platelet Glycoprotein GPIIb-IIIa Complex / immunology, Purpura, Thrombocytopenic, Idiopathic / immunology, Case Reports, Antigens, Neoplasm / blood, Autoantibodies / blood, Female, Humans, Kidney Neoplasms / blood, Paraneoplastic Syndromes / blood, Platelet Glycoprotein GPIIb-IIIa Complex / metabolism, Purpura, Thrombocytopenic, Idiopathic / blood, Antigens, Neoplasm, Autoantibodies, Platelet Glycoprotein GPIIb-IIIa Complex

The association of immune thrombocytopenia (ITP) with cancer has been reported, but the causality of tumor cells in paraneoplastic ITP pathogenesis and maintenance has never been established. We analyzed the unusual case of refractory ITP and coincident urothelial tumor of the kidney with circulating high titer anti-GPIIBIIIA autoantibodies. Intriguingly, after nephrectomy, the patient recovered fully and her anti-GPIIBIIIA autoantibodies disappeared. Proteomic and immunohistochemistry analyses revealed erratic GPIIB expression by the tumor cells, suggesting possible antigenic mimicry chronically stimulating the immune system and leading to this patient's refractory ITP. Such previously unreported findings provide proof-of-concept that requires further confirmation with the prospective study of a larger number of patients.
Treatment of Thoracic Outlet Syndrome Complications Assisted with a Cerebral Embolism Protection Device
Authors: Marina Ansuategui-Vicente, Yolanda Tapia-Lopez, Cristina Cases-Perez, Gabriela Ibarra-Sanchez, Ania Garcia Gutierrez, Jose-Antonio Gonzalez-Fajardo
Journal: Methodist Debakey Cardiovasc J (2022)
Keywords: cervical rib, retrograde thromboembolization, stroke, thoracic outlet syndrome
MeSH terms: Carotid Stenosis / complications, Embolic Protection Devices, Thoracic Outlet Syndrome / complications, Thoracic Outlet Syndrome / diagnostic imaging, Case Reports, Adult, Female, Humans, Stents, Thrombectomy / adverse effects

We report a case of a stroke and upper limb ischemia in a 27-year-old female secondary to a right cervical rib and retrograde thromboembolization. Follow-up showed complete patency of the vessels after thrombectomy and internal carotid artery stenting followed by transbrachial embolectomy performed with a cerebral protection device. The cervical rib was surgically removed to prevent additional events.
Corticosteroid-Induced Regression of Glioblastoma: A Radiographic Conundrum
Authors: Joshua A Cuoco, Brendan J Klein, Christopher M Busch, Evin L Guilliams, Adeolu L Olasunkanmi, John J Entwistle
Journal: Front Oncol (2019)
Keywords: astrocytoma, brain tumor, corticosteroid, dexamethasone, glioblastoma, neuro-oncology, regression, vanishing tumor
MeSH terms: Case Reports

Corticosteroid-induced regression of lesion contrast enhancement on imaging studies is most commonly appreciated with primary central nervous system lymphoma; however, although exceedingly rare, a limited number of primary and metastatic intracranial lesions have been reported to exhibit similar radiographic changes subsequent to corticosteroid therapy. To date, there have been six cases of glioblastoma reported to exhibit such changes. Lesion transformation on repeat imaging after the initiation of steroids represents a diagnostic dilemma for clinicians when attempting to differentiate between a diagnosis of glioblastoma and lymphoma. Stereotactic biopsy may be inadvertently postponed due to high clinical suspicion for steroid-induced cytotoxicity traditionally seen with lymphomatous cells. To highlight this radiographic conundrum, we present a rare case of corticosteroid-induced regression of glioblastoma and discuss the relevant literature. To our knowledge, this is the first case report to describe the molecular profile of a glioblastoma that underwent corticosteroid-induced regression.
Lung adenocarcinoma relapse with emerging EGFR mutation following complete response of small cell lung cancer warrants routine re-biopsy: A case report
Authors: Minna Zhang, Yi Tang, Junlei Wang, Qian Liu, Bing Xia
Journal: Front Oncol (2022)
Keywords: egfr, histological transformation, lung adenocarcinoma, non-small cell lung cancer, small cell lung cancer
MeSH terms: Case Reports

Transformation of small cell lung cancer (SCLC) to lung adenocarcinoma (LUAD) is rarely reported. Here, we report a case initially presented with SCLC and was diagnosed as LUAD when the lesion relapsed at the same site. A 56-year-old patient with SCLC who received etoposide and cisplatin chemotherapy combined with radiotherapy achieved a complete radiological response. After 28 months of stable disease, a computed tomography scan revealed a new lesion at the same site as the primary tumor. Pathological examination suggested a LUAD with an emerging EGFR exon 19 deletion. The patient was then treated with icotinib and achieved a near-complete radiological response. Nineteen months later, the patient developed resistance caused by EGFR T790M mutation and received treatment with osimertinib. At the last follow-up in January 2022, the patient was symptom-free. This case warrants re-biopsy and genetic testing as a routine operation when SCLC relapses at the same site as the primary tumor for an extended period, and prospective investigation is required.
Case Report: Intraoperative radiotherapy as the new standard of care for breast cancer patients with disabling health conditions or impairments
Authors: Michael Omosule, Shiroma De Silva-Minor, Nathan Coombs
Journal: Front Oncol (2023)
Keywords: iort, targit, breast, breast cancer, intraoperative radiotherapy, quality of life, radiotherapy
MeSH terms: Case Reports

In selected patients, intraoperative radiotherapy (IORT) offers an alternative to standard external beam radiotherapy (EBRT) while providing equivalent breast cancer control outcomes. After IORT, most patients do not require external beam radiotherapy and thus avoid the need to travel to and from a radiotherapy centre in the weeks after surgery. EBRT is associated with an increased risk of non-breast cancer mortality and poorer cosmetic outcomes while increasing patient travel time, emissions associated with travel and time spent in the hospital. Consequently, EBRT is associated with an overall reduction in quality of life compared to IORT. Patients with other on-going health conditions or clinical impairments are likely to be affected by the daily radiotherapy requirement. Should these patients be consulted during their pre-operative assessment as to options to undergo IORT? This paper describes a case of IORT and follow up in a functionally blind patient. Quality of life effects are elucidated and further support the use of IORT in selected breast cancer patients with health conditions or impairments.
Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases
Authors: Sarah Alsubhi, Bradley Osterman, Nicolas Chrestian, François Dubeau, Daniela Buhas, Myriam Srour
Journal: Front Neurol (2022)
Keywords: b6, b6rds, plpbp, plphp, prosc, pyridoxine, seizures, status epilepticus
MeSH terms: Case Reports

PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with unusual paroxysmal episodes lacking EEG correlation with a suspicious movement disorder, rarely reported in B6RDs. In addition, we review the clinical features and treatment responses of all 51 previously published individuals with PLPHP deficiency. Our case series underlines the importance of considering PLPBP mutations in individuals with partially B6-responsive seizures and highlights the presence of a founder effect in the French-Canadian population.
Successful Management of Peri-Implant Infection from the Endodontic Lesion of Adjacent Natural Tooth
Authors: Jiaming Gong, Abeer A Al-Sosowa, Ruimin Zhao, Jianxue Li, Mei Mei
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Recently, dental implants have had the most important role in oral rehabilitation. Peri-implantitis is considered a common complication of dental implants. Adjacent natural teeth with untreated endodontic pathology may be a potential risk for implant placement. Retrograde/periapical peri-implantitis (RPI), the inverting of the progress direction of peri-implantitis. Radiographically, it is characterized by signs of periapical bone loss and normal coronal osteointegration of the implant; and its prevalence is closely associated with endodontic lesions of adjacent teeth. Another novel separate disease entity is known as the endodontic peri-implant defects (endo-implant defects), manifesting as the peri-implant marginal bone loss due to endodontic pathology of adjacent teeth, to which endodontists and implantologists are supposed to attach great importance. This current study presented two cases of different types of peri-implant infection in which conducting proper intervention to the endodontic lesions of adjacent teeth resulted in full radiographic and clinical resolution of peri-implant defects.