Journal of Medical Case Reports最新文献

{"title":"Presentation of mitral valve cleft with concurrent atrial septal defect and ventricular septal defect detected by three-dimensional transesophageal echocardiography: a case report.","authors":"Azin Alizadehasl, Ehsan Amini-Salehi, Seyedeh Fatemeh Hosseini Jebelli, Kaveh Hosseini, Azam Yalameh Aliabadi, Rosa Yazzaf, Sara Nobakht","doi":"10.1186/s13256-024-04704-y","DOIUrl":"10.1186/s13256-024-04704-y","url":null,"abstract":"<p><strong>Background: </strong>Cleft in the mitral valve leaflet is a primary cause of congenital mitral regurgitation, stemming from developmental anomalies in the mitral valve and frequently associated with other congenital heart defects. Concurrent presence of cleft in mitral valve leaflet with atrial septal defect and ventricular septal defect is relatively rare. Echocardiography, especially transesophageal echocardiography, is essential in diagnosing cleft mitral valve leaflet and related congenital heart defects, providing critical, detailed imagery for accurate assessment. This study presents a young female patient whose anterior mitral cleft, along with atrial septal defect and ventricular septal defect, was revealed through three-dimensional transesophageal echocardiography.</p><p><strong>Case presentation: </strong>A 25-year-old Iranian female, experiencing progressive dyspnea and diminished physical capacity over 3 months, was referred to our hospital. Initial examination and transthoracic echocardiography indicated severe mitral regurgitation. Further evaluation with transesophageal echocardiography corroborated these findings and identified a cleft in the anterior mitral valve leaflet, coupled with mild left ventricular enlargement and significant left atrial enlargement. The complexity of the patient's condition was heightened by the diagnosis of cleft mitral valve leaflet in conjunction with atrial septal defect and ventricular septal defect, showing the complex nature of congenital defects.</p><p><strong>Conclusion: </strong>This case emphasizes the critical role of transthoracic echocardiography in diagnosing cleft of mitral valve leaflet and associated cardiac anomalies, showcasing its superiority over transthoracic echocardiography for detailed visualization of cardiac structures. The identification of multiple congenital defects highlights the necessity for a comprehensive diagnostic approach to manage and treat patients with complex congenital heart diseases effectively. Future research should aim to refine diagnostic methodologies to enhance patient outcomes for cleft of mitral valve leaflets and related congenital conditions.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11330598/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Virtual reality: a game-changer in the diagnosis and surgical planning of astrocytoma grade III: a case report.","authors":"Mohammed Alhamood, Amin Abbass, Rida Hasn","doi":"10.1186/s13256-024-04679-w","DOIUrl":"10.1186/s13256-024-04679-w","url":null,"abstract":"<p><strong>Background: </strong>In the dynamic realm of modern medicine, the advent of virtual reality technology heralds a transformative era, reshaping the contours of diagnosis and surgical planning with its immersive prowess. This study delves into the groundbreaking application of virtual reality in the intricate dance of neurosurgery, particularly spotlighting its role in the management of astrocytoma grade III-a cerebral challenge of significant complexity.</p><p><strong>Case presentation: </strong>A 30-year-old Middle Eastern man from Syria grappled with the invisible tendrils of pain, manifesting as persistent headaches and a numbing sensation that crept into his neck and extremities. For two relentless months, the morning sun brought not hope but an intensification of his agony, rendering him unable to partake in the daily dance of life. The usual sentinels of relief, analgesic drugs, stood defeated, offering no respite. The neurological examination was normal, there were no pathological findings on sensory and motor examination, and he exhibited normal reflexes and neither meningeal nor cerebellar signs. He showed a family history of breast cancer. The initial foray into the enigmatic depths of his brain via computed tomography and magnetic resonance imaging imaging unveiled a finding in the right temporal lobe, a lesion that suggested something more sinister. Previous medical interventions included analgesic medications prescribed for persistent headaches, but they offered no relief. No other therapeutic interventions were administered prior to the current diagnosis. It was here that virtual reality technology emerged not as a mere tool but as a beacon of precision, casting a three-dimensional light on the shadowy intruder. This technological marvel allowed for meticulous measurement 21.8 × 14.5 mm and localization within the temporal theater, setting the stage for what was to come. With the path laid clear, the patient embarked on a surgical odyssey, a quest to excise the unwelcome guest. The operation was a triumph, a testament to human ingenuity and the symbiotic relationship between flesh and machine. The postoperative verdict was delivered through the lens of histopathology, confirming the presence of an astrocytoma grade III, a cerebral interloper known for its rapid proliferation. The battle, however, was far from over. Complementary radiotherapy and chemotherapy were enlisted as allies in this ongoing war, their potent forces working in concert to stave off the cellular insurgence. The patient's journey through the healing arts was charted by periodic clinical and neurological examinations, with laboratory tests and the vigilant gaze of brain magnetic resonance imaging ensuring a watchful eye was kept on any potential resurgence.</p><p><strong>Conclusions: </strong>In this narrative of resilience and technological prowess, we witness the harmonious fusion of human touch and digital precision, a partnership that redefines the b","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11330069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trans-spinal magnetic stimulation combined with kinesiotherapy as a new method for enhancing functional recovery in patients with spinal cord injury due to neuromyelitis optica: a case report.","authors":"Rodrigo Brito, Bárbara Marroquim, Lívia Shirahige, Adriana Baltar, Sérgio Rocha, Alexia Perruci, Katia Monte-Silva","doi":"10.1186/s13256-024-04636-7","DOIUrl":"10.1186/s13256-024-04636-7","url":null,"abstract":"<p><strong>Background: </strong>Experimental studies have shown that repetitive trans-spinal magnetic stimulation (TsMS) decreases demyelination and enables recovery after spinal cord injury (SCI). However, the usefulness of TsMS in humans with SCI remains unclear. Therefore, the main objective of this study is to evaluate the effects of TsMS combined with kinesiotherapy on SCI symptoms. We describe a protocol treatment with TsMS and kinesiotherapy in a patient with SCI due to neuromyelitis optica (NMO)-associated transverse myelitis.</p><p><strong>Case presentation: </strong>A 23-year-old white male with NMO spectrum disorders started symptoms in 2014 and included lumbar pain evolving into a mild loss of strength and sensitivity in both lower limbs. Five months later, the symptoms improved spontaneously, and there were no sensorimotor deficits. Two years later, in 2016, the symptoms recurred with a total loss of strength and sensitivity in both lower limbs. Initially, physiotherapy was provided in 15 sessions with goals of motor-sensory recovery and improving balance and functional mobility. Subsequently, TsMS (10 Hz, 600 pulses, 20-seconds inter-trains interval, at 90% of resting motor threshold of the paravertebral muscle) was applied at the 10th thoracic vertebral spinous process before physiotherapy in 12 sessions. Outcomes were assessed at three time points: prior to physiotherapy alone (T-1), before the first session of TsMS combined with kinesiotherapy (T0), and after 12 sessions of TsMS combined with kinesiotherapy (T1). The patient showed a 25% improvement in walking independence, a 125% improvement in balance, and an 18.8% improvement in functional mobility. The Patient Global Impression of Change Scale assessed the patient's global impression of change as 'much improved'.</p><p><strong>Conclusion: </strong>TsMS combined with kinesiotherapy may safely and effectively improve balance, walking independence, and functional mobility of patients with SCI due to NMO-associated transverse myelitis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11330148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prostate ductal adenocarcinoma exhibiting a late recurrence in the anterior urethra 13 years post-total prostatectomy: a case report.","authors":"Seiichiro Honda, Takashi Kawahara, Reiko Tanaka, Shu Yuguchi, Shoji Yamanaka, Satoshi Fujii, Akihito Hasizume, Kimito Osaka, Noboru Mimura, Jurii Karibe, Takeaki Noguchi, Kota Shimokihara, Daiji Takamoto, Teppei Takeshima, Jun-Ichi Teranishi, Kazuhide Makiyama, Hiroji Uemura","doi":"10.1186/s13256-024-04699-6","DOIUrl":"10.1186/s13256-024-04699-6","url":null,"abstract":"<p><strong>Background: </strong>Prostate ductal adenocarcinoma, a rare histology observed in 0.4-0.8% of all prostate cancers, is treated similarly to acinar adenocarcinoma but tends to have a higher likelihood of metastasis, recurrence, and poorer prognosis.</p><p><strong>Case presentation: </strong>A 73-year-old Asian-Japanese male presented with gross hematuria, with investigations revealing a prostate ductal adenocarcinoma. Subsequent radical prostatectomy indicated a Gleason score of 8 with no lymph node metastasis. Despite initial prostate-specific antigen level reductions post-prostatectomy and salvage radiation therapy due to recurring elevated prostate-specific antigen levels, no recurrence was evident until 13 years later. A tumor in the anterior urethra was identified as metastasis of his prostate ductal adenocarcinoma.</p><p><strong>Conclusion: </strong>This report presents an uncommon case of prostate ductal adenocarcinoma exhibiting a late recurrence in the anterior urethra 13 years post-radical prostatectomy.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11330126/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"This is a successful removal of more than 450 pieces of metal objects from a patient's stomach: a case report.","authors":"Farbod Farhadi, Ahmadreza Mohtadi, Mostafa Pakmehr, Hossein Ghaedamini, Fatemeh Shafieian, Seyed Abolfazl Aminifar","doi":"10.1186/s13256-024-04672-3","DOIUrl":"10.1186/s13256-024-04672-3","url":null,"abstract":"<p><strong>Background: </strong>Ingestion of foreign bodies may be seen unconsciously or intentionally in patients with mental health problems. Most cases pass through the esophagus slowly; however, in some cases, the tumor may be located in narrower areas of the digestive tract that require endoscopic or surgical intervention. This study describes a rare case of successful removal of more than 450 pieces of metal objects from the stomach of a 36-year-old man via ingestion of foreign bodies at Imam Khomeini Hospital in Ahvaz.</p><p><strong>Case presentation: </strong>A 36-year-old male patient (Aryan race) presented with complaints of chronic abdominal pain, frequent vomiting, and intolerance to liquids and food. The patient's companions mentioned a history of gradual ingestion of small metal objects 3 months prior. The patient was conscious and had stable vital signs. In the patient's X-ray and endoscopy, multiple metal objects inside the patient's stomach were observed, causing gastric outlet obstruction. The patient underwent gastrostomy surgery, and 452 screws, nuts, keys, stones, and other metal parts weighing 2900 g were removed from the stomach. Five days after the operation, the patient was transferred to the psychiatric service in good general condition and was diagnosed with psychosis, and her condition returned to normal at follow-up.</p><p><strong>Conclusion: </strong>Successful removal of this foreign body is rare. In chronic abdominal pain, especially in the context of psychiatric disorders, attention should be given to the ingestion of foreign bodies. In swallowing large amounts of sharp and metallic foreign objects, surgical intervention is necessary, especially in cases of obstruction, and saves the patient's life.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11328415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141988121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparisons of magnetic resonance imaging, histopathological and Ki-67 labeling index findings in a single myxofibrosarcoma: a case report.","authors":"Ryusuke Tsujimura, Kenta Uto, Noriyuki Nakano, Yusuke Sato, Yuko Kobashi, Toshio Kojima, Hiroyuki Hao","doi":"10.1186/s13256-024-04693-y","DOIUrl":"10.1186/s13256-024-04693-y","url":null,"abstract":"<p><strong>Background: </strong>Myxofibrosarcoma is a myxoid soft tissue sarcoma showing T2 high intensity on magnetic resonance imaging. However, myxofibrosarcoma is a heterogeneous sarcoma with both myxoid and cellular portions. Magnetic resonance imaging findings were obtained MRI findings for comparison with histological and Ki-67 immunohistochemical features, in different portions of one myxofibrosarcoma.</p><p><strong>Case presentation: </strong>Magnetic resonance imaging observations were compared with gross pathological and microscopic findings of a myxofibrosarcoma from a 50-year-old Japanese female. The Ki-67 labeling indices of different portions of the tumor, that is, the myxoid, cellular, and histologically confirmed infiltrative margin portions (pathological tail sign), were compared. The T2 low intensity area was more cellular than the T2 high intensity area, while the cellular portion had a significantly higher Ki-67 index than the myxoid portion (p = 0.0313). The portions with the pathological tail sign had a significantly higher Ki-67 labeling index than those without this sign (p = 0.0313).</p><p><strong>Conclusions: </strong>More cellular portions of a myxofibrosarcoma correspond to more areas of the tumor showing aggressive features. Furthermore, our data also support the hypothesis of high aggressiveness being associated with the pathological tail sign in myxofibrosarcoma. To our knowledge, this is the first case report to describe comparisons among the imaging findings, histological features, and Ki-67 immunohistochemistry results for different portions of one myxofibrosarcoma.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11328375/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141988120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Guide to extraluminal fish bone retrieval with serial computed tomography scans: a case series.","authors":"Ting Ting Yew, Ing Ping Tang, Li Yun Lim, Yuanzhi Cheah, Shiong Leong Yew","doi":"10.1186/s13256-024-04719-5","DOIUrl":"10.1186/s13256-024-04719-5","url":null,"abstract":"<p><strong>Background: </strong>Fish bone ingestion is commonly encountered in emergency department. It poses a diagnostic and therapeutic challenge particularly when it migrates extraluminally, necessitating a comprehensive and multidisciplinary approach for successful management.</p><p><strong>Case presentation: </strong>Here we reported four cases of extraluminal fish bone. The first patient was a 68-year-old Chinese man who had odynophagia shortly after a meal involving fish. The second was a 50-year-old Iban man who reported a sharp throat pain after consuming fish 1 day prior. The third patient was a 55-year-old Malay woman who developed throat pain and odynophagia after consuming fish 1 day earlier. The fourth patient, a 70 year-old Iban man, presented late with odynophagia, neck pain, swelling, and fever 1 week after fish bone ingestion. These unintentional fish bone ingestions faced challenges and required repeat computed tomography scans using multiplanar reconstruction in guiding the surgical removal of the fish bone.</p><p><strong>Conclusion: </strong>We underscore the significance of multiplanar reconstruction in pinpointing the fish bone's location, demonstrating the migratory route, and devising an accurate surgical plan.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11325708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141982478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infection of Mycoplasma hominis in the left lower leg amputation wound of a patient with diabetes: a case report.","authors":"Li-Chen Kuo, Yu-Hsiang Tseng, Lee-Wei Chen, Tso-Ping Wang, Ciao-Shan Chen, Herng-Sheng Lee","doi":"10.1186/s13256-024-04718-6","DOIUrl":"10.1186/s13256-024-04718-6","url":null,"abstract":"<p><strong>Background: </strong>Mycoplasma hominis is typically found on the mucosal epithelium of the human genital tract, with infections being rare. However, when the mucosal barrier is compromised or in individuals with weakened immune systems, this microorganism can trigger infections in both intragenital and extragenital sites. This study offers a comprehensive overview of infections caused by the rare pathogen M. hominis. This overview helps laboratories identify M. hominis infections in a timely manner, thereby enabling earlier clinical intervention for patients.</p><p><strong>Case presentation: </strong>A 75-year-old Taiwanese man with type 2 diabetes mellitus initially underwent a left lower extremity amputation following a severe infection caused by necrotizing fasciitis. Subsequently, a poorly healing wound developed at the site of amputation. Upon culturing the wound abscess, M. hominis was isolated and identified as the causative agent.</p><p><strong>Conclusions: </strong>Through this case, we present clinical and microbiological observations along with a review of the literature to deepen our understanding of M. hominis. Our findings can be used to develop laboratory diagnostic protocols and innovative therapeutic approaches.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11325761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141982479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Laparoscopic removal of retroperitoneal schwannoma in renal hilum: a case report.","authors":"Shotaro Yamamoto, Takashi Kawahara, Tomoki Saito, Takahiro Hanai, Teppei Takeshima, Koki Maeda, Kazuhide Makiyama, Hiroji Uemura","doi":"10.1186/s13256-024-04698-7","DOIUrl":"10.1186/s13256-024-04698-7","url":null,"abstract":"<p><strong>Background: </strong>Schwannomas in the renal hilum are rare among retroperitoneal tumors. However, the possibility of malignant findings cannot be ruled out, and surgery is often indicated. This case was expected to be difficult to remove laparoscopically because the tumor was sandwiched between the arteriovenous veins of the renal portal. Sometimes, the tumor should be resected with a conservative approach to the kidney to preserve the renal function.</p><p><strong>Case presentation: </strong>Our patient was a 51-year-old Asian-Japanese man who was referred to our department for a retroperitoneal tumor in the renal hilum. Since malignancy could not be ruled out due to its size (45 × 48 × 55 mm) on imaging, the tumor was excised laparoscopically. Histopathology revealed schwannoma.</p><p><strong>Conclusions: </strong>We herein report a case in which a renal hilar tumor between renal arteriovenous vessels was successfully resected laparoscopically.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11325717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141982480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics and genetic analysis of a case of a patient with familial hereditary breast cancer: a case report.","authors":"Yuan Liu, Jinglin Mao, Longquan Xiang, Xiangyu Zhang, Zhen Qu","doi":"10.1186/s13256-024-04685-y","DOIUrl":"10.1186/s13256-024-04685-y","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer has emerged as the foremost cause of female mortality worldwide, with triple negative breast cancer accounting for approximately 10-15% of all breast cancer cases. The triple negative breast cancer family has obvious familial heritability, but no potential pathogenic variation was found in BRCA1/2.</p><p><strong>Case presentation: </strong>The patient was a 56-year-old woman of Han ethnicity. The clinical characteristics of this patient with breast cancer were summarized, peripheral blood of one normal female and two patients with breast cancer in this family was collected, DNA was extracted, and the potential pathogenic variation was analyzed by whole exome sequencing. The normal female and two patients with breast cancer in this family shared a maternal grandmother. The proband's right breast mass was punctured, and the biopsy showed invasive carcinoma of the right breast, grade II-III, with necrosis. No mutation was found in BRCA1/2 gene test; immunohistochemical of surgical specimens showed triple negative breast cancer. Three mutation types and 17 gene mutation sites were detected through bioinformatics prediction analysis on the basis of co-segregation of genotype and phenotype within the family and whole exome sequencing results. Combined with the Cancer Genome Atlas database comprehensive analysis, the MT1E c.G107A (p.C36Y) mutation may be a potential pathogenic site.</p><p><strong>Conclusions: </strong>Through whole exome sequencing, we identified a total of 17 potential pathogenic mutation loci, none of which have been reported thus far. Therefore, our work expanded the gene mutation spectrum of familial hereditary triple negative breast cancer, which can provide more basis for family genetic counseling.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11323601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}