OpenMed/multicare-articles huggingface dataset:
STK3-ALK, a Novel ALK Rearrangement in Non-Small Cell Lung Cancer With Sensitivity to Tyrosine Kinase Inhibitors: A Case Report
Authors: Chunlai Feng, Rong Zhou, Feng Liu, Tingting Wang, Sisi Liu, Yang Shao
Journal: Front Oncol (2021)
Keywords: alk rearrangement, nsclc, stk3-alk, tki, brain metastases, case report
MeSH terms: Case Reports

Anaplastic lymphoma kinase (ALK) rearrangement occurs in 5% to 8% of patients with non-small cell lung cancer (NSCLC). More than 90 different ALK fusion partners have been discovered in NSCLC patients, and ALK tyrosine kinase inhibitors (TKIs) such as crizotinib and alectinib have achieved tumor responses in patients with advanced ALK-positive NSCLC. Here, we report the case of a patient with an advanced NSCLC carrying a novel serine/threonine kinase 3 (STK3)-ALK rearrangement, which was identified by targeted next-generation sequencing (NGS) and was confirmed by RNA sequencing. Anti-ALK immunohistochemistry (IHC) staining also revealed the high expression of ALK. The patient benefitted from alectinib treatment after experiencing crizotinib resistance and achieved an overall response to TKI of over 14 months. At the timepoint of submission of this manuscript, this patient is still receiving alectinib treatment with a good tolerance. This study provides meaningful insights into the potential treatment option for NSCLC patients with brain metastases harboring STK3-ALK fusions and highlights the advantages of NGS in rapidly identifying novel molecular targets.
Local recurrence of breast cancer caused by core needle biopsy: Case report and review of the literature
Authors: Kimiyasu Yoneyama, Motohito Nakagawa, Asuka Hara
Journal: Int J Surg Case Rep (2020)
Keywords: breast cancer, core needle biopsy, local recurrence, needle tract seeding
MeSH terms: Case Reports

Introduction:
Needle tract seeding is the implantation of tumor cells at the site of needle passage during needle biopsy. Histopathological examination of resected specimens after biopsy shows an incidence of 22%-50%. However, reports of actual local recurrence are extremely rare. Here we report such a case.
Presentation of case:
A 67-year-old woman was diagnosed with ductal carcinoma by histopathology and underwent right mastectomy and sentinel lymph node biopsy. Histopathological examination revealed non-invasive ductal carcinoma. One year after the first operation, a mass was found at the site of the core needle biopsy (CNB) scar near the previous surgical wound on the right chest. Histological examination revealed the tumor as adenocarcinoma, and a skin lesion resection was performed. After surgery, radiation therapy and endocrine therapy were performed. She remains relapse-free as of this writing, 9 months after resection.
Discussion:
Reports of local recurrence due to needle tract seeding are extremely rare. We found nine cases of mastectomy and seven cases of partial resection performed for the first surgery; six patients received radiation therapy and 10 did not. Histological diagnosis at the time of the first operation was invasive carcinoma in all cases.
Conclusion:
The risk of seeding is high with multiple punctures in CNB, in cases with a short period until surgery, and in mucinous carcinoma. Considering these factors, CNB puncture should preferably be at a site that is included in the resection area during surgery. If not resected, close follow-up is necessary considering the possibility of local recurrence.
Two Cases of Leiomyoma in the Colon Masquerading as Other Types of Colonic Pedunculated Polyps
Authors: Ailee Ikeda, Masaya Iwamuro, Takehiro Tanaka, Toshihiro Inokuchi, Asuka Nakarai, Yuusaku Sugihara, Keita Harada, Sakiko Hiraoka, Yoshiro Kawahara, Hiroyuki Okada
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

We describe two cases of leiomyoma in the colon that were diagnosed histologically after endoscopic resection. The first case was a 79-year-old Japanese woman who presented with a pedunculated polyp of 14 mm length at the splenic flexure. Preoperative diagnosis suggested a colonic mucosubmucosal elongated polyp. The second case was a 29-year-old Japanese woman who presented with a pedunculated polyp of 40 mm length at the hepatic flexure and had an ulcer on top of the polyp. Preoperative diagnosis suggested an inflammatory fibroid polyp. A pathological diagnosis of colonic leiomyoma was made after endoscopic resection in both cases. Both tumors were confirmed to originate, not from the proper muscle layer, but from the muscularis mucosae. These cases underscore that although colonic involvement is infrequent, leiomyomas can display pedunculated morphology in the colon rather than the typical gross appearance of gastrointestinal submucosal tumors seen with sessile morphology.
Non-canonical Expression of Cardiac Troponin-T in Neuroendocrine Ethmoid Sinus Carcinoma Following Immune Checkpoint Blockade
Authors: Toshihiro Tsuruda, Yuichiro Sato, Kei Kajihara, Takayuki Kawabata, Yoko Kubuki, Soichi Komaki, Masao Kikuchi, Tetsunori Ishikawa, Tetsuya Tono, Kazuo Kitamura
Journal: Front Cardiovasc Med (2019)
Keywords: mri, creatine kinase, echocardiogram, neuroendocrine tumor, troponin
MeSH terms: Case Reports

We describe the case of a patient with neuroendocrine ethmoid sinus carcinoma, who exhibited markedly elevated levels of serum cardiac troponin-T and creatine kinase (CK)-MB isoenzyme without any symptom after the administration of nivolumab, immune checkpoint inhibitor. The repeated 12-leads-electrocardiogram did not show any changes in the ST-T segments or arrhythmias. The echocardiogram showed normal ranges of left ventricular contraction in the clinical course. Cardiac magnetic resonance imaging showed minimal myocardial edema and inflammation. Blood clots in the metastatic lesion of bone marrow aspirates exhibited positive staining for cardiac troponin-T and CK-MB in the cytoplasm and nucleoplasm of neoplastic cells. Although we did not perform a second cardiac magnetic resonance imaging and autopsy, we postulate that the attack of the neoplastic cells by the immune checkpoint inhibitor or the secretion from neoplastic cell-derived extracellular vesicles may have exacerbated the increase in concentrations of these molecules in the blood. Our case should warrant consideration a false-positive value of cardiac troponin-T and CK-MB can be obtained in cases with malignancy.
Complete remission of Hodgkin's lymphoma in a pediatric patient with TTN gene mutation treated with brentuximab vedotin combined chemotherapy without anthracyclines: A case report
Authors: Ying Li, Ligang Liu, Hao Sun, Nan Li, Shuang Huang, Alexander Olinger, Xiaolin Xu, Xiaoling Wang, Yanlong Duan
Journal: Front Oncol (2022)
Keywords: hodgkin’s lymphoma (hl), ttn, ttn gene mutation, brentuximab vedotin, cardiotoxicity
MeSH terms: Case Reports

Introduction:
There is no guideline for the treatment of Hodgkin's lymphoma (HL) in pediatric patients with titin (TTN) gene mutation and heart failure. We explored the feasibility of using brentuximab vedotin (BV) plus chemotherapy without anthracyclines to treat one pediatric HL patient with TTN mutation.
Case presentation:
A 5-year and 7-month male patient was admitted to the hospital due to high fever and shortness of breath. He was diagnosed with stage IV IVB high-risk Hodgkin's lymphoma (lymphocyte-depleted type) at admission. Echocardiography showed that the left ventricular ejection fraction (LVEF) was 27%. The gene sequencing revealed a pathogenic variant in the TTN gene. Due to the risk of cardiotoxicity of anthracycline, he received 6 cycles of chemotherapy (no anthracyclines), 4 cycles of them plus BV with dosing 1.8 mg/kg, q3w. The tumor was reduced by 77% after 2 cycles of BV and 4 cycles of chemotherapy. At the end of 4 cycles of BV and six courses of chemotherapy, with complete remission achieved, the tumor was reduced by 85%. After 11 months of follow-up, the patient was still in complete remission with no adverse events reported, and his LVEF improved to 62%.
Conclusion:
The combination of BV with chemotherapy is effective and well-tolerated for pediatric HL patients with TTN gene mutation.
Hereditary Angioedema-Associated Acute Pancreatitis in C1-Inhibitor Deficient and Normal C1-Inhibitor Patients: Case Reports and Literature Review
Authors: Camila Lopes Veronez, Régis Albuquerque Campos, Rosemeire Navickas Constantino-Silva, Priscila Nicolicht, João Bosco Pesquero, Anete Sevciovic Grumach
Journal: Front Med (Lausanne) (2019)
Keywords: c1-inhibitor deficiency, f12 mutation, abdominal swelling, acute pancreatitis, hereditary angioedema
MeSH terms: Case Reports

Abdominal pain due to intestinal swellings is one of the most common manifestations in hereditary angioedema (HAE). Bowel swellings can cause severe abdominal pain, nausea, vomiting, and diarrhea, which may lead to misdiagnosis of gastrointestinal disorders. In rare cases, HAE abdominal attacks can be accompanied by acute pancreatitis. Here, we report 3 patients with HAE and acute pancreatitis and present a literature review of similar cases. Patients with confirmed diagnosis of HAE secondary to C1-inhibitor (C1-INH) deficiency (n = 2) and HAE with normal C1-INH and F12 mutation (F12-HAE) (n = 1) were included. Pancreatitis was diagnosed based on clinical symptoms and high lipase and amylase levels. Three HAE patients were diagnosed with acute pancreatitis based on increased amylase levels during severe abdominal swelling episodes. Two were previously diagnosed with HAE type I and one with F12-HAE. Pancreatitis was efficiently treated in two patients using Icatibant, with pain relief within hours. When conservatively treated, pancreatitis pain took longer time to resolve. Eighteen pancreatitis cases in HAE with C1-INH deficiency were previously reported and none in F12-HAE. Most patients (12/18) underwent invasive procedures and/or diagnostic methods. Although rare, severe abdominal HAE attacks could cause pancreatitis; HAE-specific treatments may be efficient for HAE-associated pancreatitis. HAE should be considered as a differential diagnosis of acute idiopathic pancreatitis. To our knowledge, this is the first report of HAE-associated pancreatitis in a F12-HAE patient treated with Icatibant.
Case Report: A rapidly growing cyst on the scalp
Authors: Emma Short, Aisling O'Shea, Krishna Mukkanna, Girish Patel, Stefan Docjinov, Kenneth May
Journal: F1000Res (2019)
Keywords: trichilemmal carcinoma, pilar cyst
MeSH terms: Case Reports

Trichilemmal carcinoma is a rare tumour derived from the outer root sheath of hair follicles . It can be difficult to distinguish both clinically and histologically from other skin lesions, particularly squamous cell carcinoma. We present the case of a 62-year-old female with a 20-year history of three 1-cm cysts on her scalp. Over a six-month period, a cyst overlying the occiput had become painful and grown in size. The general practitioner and subsequently local emergency department suspected infection. The lesion was incised, and the patient was treated with oral antibiotics. At the time of surgical excision, the lesion measured 3 x 4 cm. Microscopic examination identified rounded dermal lobules of squamous epithelium with trichilemmal keratinization, in keeping with a pre-existing pilar cyst. There were areas with nuclear pleomorphism, mitoses and an infiltrative architecture. A diagnosis of trichilemmal carcinoma arising in a pilar cyst was made. Trichilemmal carcinomas are considered to be a low-grade tumour, but they have the potential to spread to lymph nodes and to metastasise to distant sites in the body, therefore adequate excision and appropriate follow-up are required.
Successful Intravenous Thrombolysis in Ischemic Stroke Caused by Tuberculous Meningitis: A Case Report
Authors: Xinke Peng, Xiaomei Wu, Lingling Lv, Qile Xiao, Yajing Zhan, Chunyu Wang, Hainan Zhang
Journal: Front Neurol (2021)
Keywords: neurological deficits, stroke, thrombolysis (tpa), tuberculous meningitis, vasculitis
MeSH terms: Case Reports

Tuberculous meningitis (TBM) has a variety of clinical manifestations and complications, and ischemic stroke is a common complication of TBM. However, there is no established prevention or treatment for stroke associated with TBM, and the safety and efficiency of thrombolysis in acute stroke caused by TBM remain unknown. Herein, we present a case of successful intravenous thrombolysis in ischemic stroke caused by TBM. A 50-year-old male patient with cerebral infarction had substantially improved neurological function after intravenous thrombolysis, and he was subsequently found to have TBM. Our findings suggest that intravenous thrombolysis might be an effective acute treatment method for infectious stroke.
Case Report: Intermittent Chest Pain With Cough, Fever, and Pericardial Effusion Over the Course of 1 Year in an 11-Year-Old Girl
Authors: Jing Chen, Lu Qin, Lan-Fang Tang
Journal: Front Pediatr (2022)
Keywords: chest pain, children, misdiagnose, paragonimiasis, pericardial effusion
MeSH terms: Case Reports

An 11-year-old girl presented with frequent chest pain, fever, and a cough that she had had for more than 13 months, as well as pleural effusion and large pericardial effusion. She was misdiagnosed with tuberculosis and received anti-tuberculosis drugs for 6 months. Within the past year, she also underwent two more thoracotomies and a thoracoscopic partial pericardiectomy. The final diagnosis of pulmonary paragonimiasis was established once it was known that she had eosinophilia, always drank stream water, and tested positive for antibodies against Paragonimus. Since antiparasitic praziquantel therapy was effective, paragonimiasis should be considered as a possibility in the differential diagnosis of tuberculosis in children.
Pediatric renal transplantation in a highly sensitised child-8 years on
Authors: Catherine Quinlan, Atif Awan, Denis Gill, Mary Waldron, Dilly Little, David Hickey, Peter Conlon, Mary Keogan
Journal: Case Rep Transplant (2011)
MeSH terms: Case Reports

Highly sensitised children have markedly reduced chances of receiving a successful deceased donor renal transplant, increased risk of rejection, and decreased graft survival. There is limited experience with the long-term followup of children who have undergone desensitization. Following 2 failed transplants, our patient was highly sensitised. She had some immunological response to intravenous immunoglobulin (IVIg) but this was not sustained. We developed a protocol involving sequential therapies with rituximab, IVIg, and plasma exchange. Immunosuppressant therapy at transplantation consisted of basiliximab, tacrolimus, mycophenolate mofetil, and steroids. At the time of transplantation, historical crossmatch was ignored. Current CDC crossmatch was negative, but T and B cell flow crossmatch was positive, due to donor-specific HLA Class I antibodies. Further plasma exchange and immunoglobulin therapy were given pre- and postoperatively. Our patient received a deceased donor-kidney-bearing HLA antigens to which she originally had antibodies, which would have precluded transplant. The graft kidney continues to function well 8 years posttransplant.
Paediatric Mediastinal Lipoblastoma
Authors: Vera Brazão de Carvalho, João Lopes Dias, Ana Nunes
Journal: J Belg Soc Radiol (2023)
Keywords: children, fat suppressed mass, hyperechoic mass, lipoblastoma, lipomatous tumor, mediastinum
MeSH terms: Case Reports

Teaching Point: Lipoblastoma should be considered in the differential diagnosis of painful rapidly growing fatty mass within the mediastinum in infants or young children under three years old.
Simple and aneurysmal bone cyst: Aspects of jaw pseudocysts based on an experience of Brazilian pathology service during 53 years
Authors: I-L Flores, M-E Hamilton, EdeF Zanchin-Baldissera, A-C Uchoa-Vasconcelos, S-B Chaves-Tarquinio, A-P Neutzling-Gomes
Journal: Med Oral Patol Oral Cir Bucal (2017)
MeSH terms: Bone Cysts / diagnosis, Bone Cysts / epidemiology, Bone Cysts / surgery, Jaw Diseases / diagnosis, Jaw Diseases / epidemiology, Jaw Diseases / surgery, Adolescent, Adult, Aged, Bone Cysts, Aneurysmal / diagnosis, Bone Cysts, Aneurysmal / epidemiology, Bone Cysts, Aneurysmal / surgery, Brazil, Child, Female, Humans, Male, Middle Aged, Retrospective Studies, Time Factors, Young Adult

Background:
Jaw pseudocysts are benign osseous lesions of unclear etiology. Among these, the simple bone cyst (SBC) and aneurysmal bone cyst (ABC) are intriguing bone pathologies still rarely studied together. This retrospective study aimed to present the long-term case series of patients with jaw pseudocysts focusing on the clinical, radiographic, and transoperative aspects.
Material and methods:
A retrospective case series of patients with SBC and ABC was performed. Clinical, radiographic, and transoperative aspects of both pseudocysts were reviewed from the histopathological archives of 20,469 cases between 1959-2012. All descriptive data were summarized.
Results:
Of 354 (15.25%) bone pathologies, 54 cases of jaw pseudocysts were found, with 42 (11.86%) SBC and 12 (3.39%) ABC cases. For both lesions, most of the sample were young Caucasian women with an asymptomatic posterior mandible lesion with undetermined time of evolution and none trauma history. A unique radiolucent scalloped lesion presenting an empty cavity were also observed for both conditions. However, some atypical findings were found for SBC including: the expansion of bone cortical, tooth resorption, displacement of the mandibular canal, and recurrence. The absence of painful symptoms and the lack of classical blood-filled cavity were observed in some cases of ABC.
Conclusions:
The SBC and ABC are bone pathologies with few retrospective studies, no previous studies on the two conditions, varied nomenclature, and atypical aspects in some cases. Therefore, the knowledge of clinical, imaging, and transoperative features of such pseudocysts are clinically valuable as diagnosis hypothesis of radiolucent lesions of the jaws.
Pyloric atresia in association with multiple colonic atresias in a neonate: an unreported association
Authors: Vijay C Pujar, Santosh Kurbet, Deepak K Kaltar
Journal: J Neonatal Surg (2012)
Keywords: congenital pyloric atresia, multiple colonic atresias
MeSH terms: Case Reports

Pyloric atresia is rare cause of gastrointestinal obstruction in neonates and usually occurs as an isolated anomaly. They have been associated with multiple small bowel and colonic atresias but not reported in association with isolated multiple colonic atresias. A case of pyloric atresia occurring in association with multiple colonic atresias is being reported here.
Case Report: Multidrug Resistant Raoultella ornithinolytica in a Septicemic Calf
Authors: Mathilde L Pas, Kevin Vanneste, Jade Bokma, Laura Van Driessche, Sigrid C J De Keersmaecker, Nancy H Roosens, Freddy Haesebrouck, Filip Boyen, Bart Pardon
Journal: Front Vet Sci (2021)
Keywords: enterobacteriaceae, antimicrobial resistance, case report, cattle, sepsis, whole genome sequencing
MeSH terms: Case Reports

Sepsis is a frequent life-threatening condition in young calves, requiring rapid broad spectrum and bactericidal therapy to maximize survival chances. Few studies have identified and characterized bacteria involved in sepsis in calves. This report demonstrates the involvement of a multidrug resistant Raoultella ornithinolytica, an emerging pathogen in human medicine, in a calf with suspected sepsis. R. ornithinolytica was identified by MALDI-TOF MS from blood cultures of a critically ill calf. Susceptibility testing showed phenotypic resistance against ampicillin, gentamicin, potentiated sulphonamides, streptomycin, tetracyclines and intermediate susceptibility for enrofloxacin. Whole genome sequencing confirmed identification as R. ornithinolytica and the multidrug resistant character of the isolate. Antimicrobial resistance genes acting against aminoglycosides, beta-lactam antibiotics, fosfomycin, quinolones, sulphonamides, trimethoprim and tetracyclines were found. The calf recovered after empirical parenteral therapy with enrofloxacin and sodium penicillin for seven days. Ancillary therapy consisted of fluid therapy, ketoprofen and doxapram hydrochloride. To the authors' knowledge, this is the first report characterizing a multidrug resistant R. ornithinolytica isolate from blood culture in cattle. It is currently unknown whether animals and farms may act as reservoirs for multidrug resistant R. ornithinolytica strains.
Maturity-Onset Diabetes of Young Type 5: Diabetes with Extrapancreatic Features
Authors: Adnan Haider, Oksana Symczyk, Ayesha Hassan, Muhammad Atif Khan, Inderpreet Madahar, Dylan Holland
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

Objective:
This case involves a new-onset diabetes patient diagnosed during pregnancy with the congenital dysplastic right kidney. Case Report. Clinical presentation, biochemical features, imaging in a patient with diabetes diagnosed during pregnancy, and congenital dysplastic right kidney. Discussion. We present a case of a 22-year-old female with the congenital dysplastic right kidney diagnosed with gestational diabetes mellitus after failing a 1-hour oral glucose tolerance test, requiring insulin during pregnancy. Because of the family history of diabetes and morphologic renal abnormalities at young ages on the maternal side of the family, our patient was evaluated for maturity-onset diabetes of adult and was found to have HNF-1β mutation.
Conclusion:
This case highlights the importance of considering the diagnosis of maturity-onset diabetes of young and particularly MODY-5 in individuals with extrapancreatic features. MODY-5 should also be considered in a patient undergoing renal transplant at young ages with a family history of morphologic renal abnormalities.
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening
Authors: E H Gerkes, J M Fock, W F A den Dunnen, M J van Belzen, C A van der Lans, E W Hoving, I E Fakkert, M J Smith, D G Evans, M J W Olderode-Berends
Journal: Neurogenetics (2016)
Keywords: childhood, clear cell meningioma, germline, hereditary, smarce1, tumor predisposition syndrome
MeSH terms: Chromosomal Proteins, Non-Histone / genetics, DNA-Binding Proteins / genetics, Meningioma / genetics, Neoplastic Syndromes, Hereditary / genetics, Case Reports, Review, Adult, Child, Female, Genetic Testing, Germ-Line Mutation, Humans, Male, Pedigree, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, SMARCE1 protein, human, Meningioma, familial

Childhood meningiomas are rare. Recently, a new hereditary tumor predisposition syndrome has been discovered, resulting in an increased risk for spinal and intracranial clear cell meningiomas (CCMs) in young patients. Heterozygous loss-of-function germline mutations in the SMARCE1 gene are causative, giving rise to an autosomal dominant inheritance pattern. We report on an extended family with a pediatric CCM patient and an adult CCM patient and several asymptomatic relatives carrying a germline SMARCE1 mutation, and discuss difficulties in genetic counseling for this heritable condition. Because of the few reported cases so far, the lifetime risk of developing meningiomas for SMARCE1 mutation carriers is unclear and the complete tumor spectrum is unknown. There is no surveillance guideline for asymptomatic carriers nor a long-term follow-up recommendation for SMARCE1-related CCM patients as yet. Until more information is available about the penetrance and tumor spectrum of the condition, we propose the following screening advice for asymptomatic SMARCE1 mutation carriers: neurological examination and MRI of the brain and spine, yearly from diagnosis until the age of 18 and once every 3 years thereafter, or in between if there are clinical symptoms. This advice can also be used for long-term patient follow-up. More data is needed to optimize this proposed screening advice.