Journal of Medical Case Reports最新文献

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Atypical presentation of herpes simplex virus 2 primary infection: a case report. 单纯疱疹病毒 2 型原发感染的非典型表现:一份病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-08-25 DOI: 10.1186/s13256-024-04721-x
Camille Herbin, Pascale Jadoul, Edouard Hosten, Amandine Gerday, Mathieu Luyckx, Jean-Luc Squifflet, Vasiliki Perlepe, Charlotte Maillard
{"title":"Atypical presentation of herpes simplex virus 2 primary infection: a case report.","authors":"Camille Herbin, Pascale Jadoul, Edouard Hosten, Amandine Gerday, Mathieu Luyckx, Jean-Luc Squifflet, Vasiliki Perlepe, Charlotte Maillard","doi":"10.1186/s13256-024-04721-x","DOIUrl":"10.1186/s13256-024-04721-x","url":null,"abstract":"<p><strong>Background: </strong>Cervicitis, an infectious or noninfectious inflammation of the cervix, encompasses a wide range of clinical conditions, from asymptomatic infections to severe lesions, making its diagnosis difficult. Acute cervicitis may develop into pelvic inflammatory disease. In patients with cervicitis, current guidelines recommend testing for herpes simplex virus when external genital lesions are present. Here, we present the case of a patient with an atypical primary herpes simplex virus 2 infection manifesting as cervicitis without genital lesions.</p><p><strong>Case presentation: </strong>A 29-year-old Caucasian woman was hospitalized for pelvic inflammatory disease. The patient complained of severe suprapubic pain, fever, and heavy vaginal discharge. The external genitalia were unremarkable, so empirical antibiotic treatment was initiated. Despite 48 hours of well-administered antibiotic therapy, her complaints persisted. Polymerase chain reaction for possible microbial causes was negative for Chlamydia trachomatis and Neisseria gonorrhoeae. There was no bacterial vaginosis. Repeat gynecological examinations with endovaginal ultrasound revealed an enlarged cervix, and pelvic magnetic resonance imaging supported a diagnosis of cervicitis. At this point, additional screening for other sexually transmitted infections and infectious disease-related etiologies of cervicitis was performed, and the polymerase chain reaction analysis of newly isolated samples was positive for herpes simplex virus 2. No antiviral treatment was initiated given the delay in diagnosing herpes simplex virus 2 infection and the slow but spontaneous abatement of symptoms.</p><p><strong>Conclusion: </strong>Herpes simplex virus infection should be considered as a possible cause of cervicitis, even in the absence of typical genital lesions. Early detection of herpes simplex virus allows early treatment, helping to reduce the duration and severity of symptoms and therefore potentially reducing recurrences and improving disease control. These data and data from future cases might spur changes in the guidelines on cervicitis testing and treatment.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11344974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142055808","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}
引用次数: 0
A clinical phenotype of VEXAS syndrome with pleural effusion, infiltrates, and systemic inflammation in a 76-year-old patient: a case report. 病例报告:一名 76 岁患者的 VEXAS 综合征临床表型,伴有胸腔积液、浸润和全身炎症。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-08-24 DOI: 10.1186/s13256-024-04688-9
Melanie Berger, Falk Schumacher, Maximilian Wollsching-Strobel, Doreen Kroppen, Sarah B Stanzel, Daniel S Majorski, Kathrin Fricke, Ilka Plath, Wolfram Windisch, Maximilian Zimmermann
{"title":"A clinical phenotype of VEXAS syndrome with pleural effusion, infiltrates, and systemic inflammation in a 76-year-old patient: a case report.","authors":"Melanie Berger, Falk Schumacher, Maximilian Wollsching-Strobel, Doreen Kroppen, Sarah B Stanzel, Daniel S Majorski, Kathrin Fricke, Ilka Plath, Wolfram Windisch, Maximilian Zimmermann","doi":"10.1186/s13256-024-04688-9","DOIUrl":"10.1186/s13256-024-04688-9","url":null,"abstract":"<p><strong>Introduction: </strong>VEXAS syndrome, characterized by a UBA1 gene mutation, is a rare and severe systemic inflammatory disease predominantly affecting men. Since its initial description in 2020, it has been noted for its broad clinical phenotype and frequent misdiagnosis.</p><p><strong>Case presentation: </strong>A 76-year-old Caucasian male patient diagnosed with VEXAS syndrome is presented in this case report. He presented with typical symptoms including pulmonary manifestations (infiltrates and effusions), systemic inflammation, and haematological abnormalities. The diagnosis was challenging due to the disease's heterogeneous presentation, often resembling autoimmune or haematological diseases. This patient's case featured ground-glass opacities and pleural effusions, underlining the significant pulmonary involvement seen in 50-67% of VEXAS patients. His condition was further complicated by recurrent fever and systemic inflammation affecting multiple organs.</p><p><strong>Conclusion: </strong>VEXAS syndrome demands an aggressive treatment approach due to its high mortality rate and refractory nature. This case underscores the importance of including VEXAS syndrome in differential diagnoses, particularly for patients with systemic inflammation and pulmonary symptoms, and calls for multidisciplinary management and extensive research to understand its full range of clinical phenotypes.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11344313/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142046795","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}
引用次数: 0
Benign pyloric adenomyoma presented as gastric outlet obstruction: a case report and review of the literature. 良性幽门腺肌瘤表现为胃出口梗阻:病例报告和文献综述。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-08-24 DOI: 10.1186/s13256-024-04741-7
Ammar Albostani, Sedra Sheikh Debs, Salma M Omar, Nour Dadoush, Linda Alkhouri, Rama Alyousfi, Nihad Mahli
{"title":"Benign pyloric adenomyoma presented as gastric outlet obstruction: a case report and review of the literature.","authors":"Ammar Albostani, Sedra Sheikh Debs, Salma M Omar, Nour Dadoush, Linda Alkhouri, Rama Alyousfi, Nihad Mahli","doi":"10.1186/s13256-024-04741-7","DOIUrl":"10.1186/s13256-024-04741-7","url":null,"abstract":"<p><strong>Background: </strong>Gastric adenomyoma is a rare benign tumor composed of glandular structures and smooth muscle fibers. While some classify gastric adenomyoma as a hamartoma, others view it as an abortive form of heterotopic pancreas. Despite its benign nature, there is a risk of malignant transformation. Predominantly found in the antrum, gastric adenomyoma affects all ages but is most common in adults aged 40-60 years. Symptoms are nonspecific, and its similarity to other lesions complicates diagnosis. This paper aims to provide a review of medical literature on gastric adenomyoma and its diagnosis and treatment methods, along with presenting an additional case report on the same topic.</p><p><strong>Case presentation: </strong>We present the case of a 55-year-old Syrian man who experienced vomiting, weight loss, and chronic partial constipation. An obstructing mass in the pylorus was detected, and then an open surgery was performed to excise the lesion. A biopsy of the resected mass was obtained for histopathological examination. The final diagnosis of the lesion was pyloric-region adenomyoma with severe pyloric stenosis. After the successful surgery, the patient recovered without any recurrence or complications.</p><p><strong>Conclusions: </strong>Several diagnostic approaches are available, including radiological studies, endoscopic examination, and fine needle aspiration guided by endoscopic ultrasonography. Treatment options involve endoscopic submucosal dissection and complete laparotomy resection. Further studies and thorough reviews are recommended to better understand the best clinical practices. Practitioners should consider gastric adenomyoma when encountering a mural gastric lesion.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11344445/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142046796","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}
引用次数: 0
Concomitant Listeria monocytogenes and Streptococcus equinus brain abscess in an immunocompetent individual: a case report. 一名免疫功能正常者同时患有李斯特菌和马尾链球菌脑脓肿:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-08-23 DOI: 10.1186/s13256-024-04690-1
Maria Akiki, Michelle Habib Azar, Souheil Hallit, Rina Maalouly, Elie Fahed, Philippe Younes, Jihad Slim, Rabih Hallit
{"title":"Concomitant Listeria monocytogenes and Streptococcus equinus brain abscess in an immunocompetent individual: a case report.","authors":"Maria Akiki, Michelle Habib Azar, Souheil Hallit, Rina Maalouly, Elie Fahed, Philippe Younes, Jihad Slim, Rabih Hallit","doi":"10.1186/s13256-024-04690-1","DOIUrl":"10.1186/s13256-024-04690-1","url":null,"abstract":"<p><strong>Background: </strong>Listeria monocytogenes brain abscess is a rare phenomenon that is common in immunocompromised patients. Streptococcus equinus brain abscess has never been reported in the literature to our knowledge. In this case report, we describe a case of brain abscess secondary to Listeria monocytogenes and Streptococcus equinus in an immunocompetent patient with transient low CD4 count.</p><p><strong>Case presentation: </strong>A 27-year-old white, male patient, previously healthy, nonalcoholic, and occasional smoker, presented to the emergency department for confusion and headache. The patient was found to have a left parietal abscess, which was drained and the fluid was sent for culture. Culture grew Listeria monocytogenes and Streptococcus equinus. The patient was treated with intravenous ampicillin followed by oral amoxicillin for a total of 6 weeks. The CD4 count was low initially. However, after the resolution of the infection, the CD4 count came back within normal range. Another brain magnetic resonance imaging was done that showed a significantly decreased hyperintensity within the left parietal subcortical white matter at the site of surgery with significantly decreased enhancement and almost total resolution of the previous abscess.</p><p><strong>Conclusion: </strong>Transient low CD4 count is a rare phenomenon that exposes patients to unusual and atypical infections. Since low CD4 count is transient, patients treated promptly recover from their illness. Our patient developed a Listeria monocytogenes and Streptococcus equinus brain abscess, which is considered rare and has not been previously described in the literature to our knowledge.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11342486/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142035970","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}
引用次数: 0
Superior mesenteric artery syndrome managed laparoscopically: a case report. 肠系膜上动脉综合征腹腔镜手术治疗:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-08-23 DOI: 10.1186/s13256-024-04703-z
Riya Vakil, Anand P Zingade, Mayur Baviskar
{"title":"Superior mesenteric artery syndrome managed laparoscopically: a case report.","authors":"Riya Vakil, Anand P Zingade, Mayur Baviskar","doi":"10.1186/s13256-024-04703-z","DOIUrl":"10.1186/s13256-024-04703-z","url":null,"abstract":"<p><strong>Background: </strong>Superior mesenteric artery syndrome is a rare condition that has only around 400 reported cases so far. Typically, the superior mesenteric artery branches off the abdominal aorta at 45° to create an aortomesenteric distance of 10-28 mm, with the duodenum passing through. However, if this aortomesenteric angle reduces to less than 25°, the third portion of the duodenum becomes compressed between the SMA and aorta, causing mechanical obstruction.</p><p><strong>Case presentation: </strong>This case report aims to demonstrate the diagnostic difficulties and the laparoscopic management of a 52-year-old Indian male presenting with abdominal pain and vomiting, with associated weight loss. Imaging was further suggestive of high intestinal obstruction, and he was later found to have superior mesenteric artery syndrome.</p><p><strong>Conclusion: </strong>Taking into account a significant reduction in morbidity, we propose laparoscopic duodenojejunostomy to be the new procedure of choice for superior mesenteric artery syndrome.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11342525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142035971","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}
引用次数: 0
Cerebellar abscess secondary to metastatic lung adenocarcinoma: a case report. 继发于转移性肺腺癌的小脑脓肿:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-08-22 DOI: 10.1186/s13256-024-04722-w
Hamza Ahmed, Amanullah Khan, Sameer Abdul Rauf, Javed Somro, Shah Emaad Ur Rehman Saleem, Javaria Parvez
{"title":"Cerebellar abscess secondary to metastatic lung adenocarcinoma: a case report.","authors":"Hamza Ahmed, Amanullah Khan, Sameer Abdul Rauf, Javed Somro, Shah Emaad Ur Rehman Saleem, Javaria Parvez","doi":"10.1186/s13256-024-04722-w","DOIUrl":"10.1186/s13256-024-04722-w","url":null,"abstract":"<p><strong>Background: </strong>Cerebellar abscesses are rare, life-threatening infections often originating from bacterial sources, while metastatic brain lesions from lung adenocarcinoma are relatively common. However, the coexistence of a cerebellar abscess secondary to metastatic lung adenocarcinoma is exceedingly rare and presents unique diagnostic and management challenges.</p><p><strong>Case presentation: </strong>We report a case of a 35 year-old Pakistani female patient with persistent headaches, nausea, and vertigo, who was found to have a large cerebellar mass with features suggestive of metastatic lung adenocarcinoma. Further investigation revealed a concomitant cerebellar abscess. Surgical excision and broad-spectrum antibiotics were initiated, resulting in a favorable outcome.</p><p><strong>Conclusion: </strong>This case showcases the rarity and complexity of cerebellar abscesses due to metastatic lung adenocarcinoma. Timely intervention, including surgery and targeted therapy, is crucial for successful management. Further research is needed to enhance treatment strategies.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11340145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017779","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}
引用次数: 0
Intra-abdominal telangiectatic osteosarcoma: a case report. 腹腔内毛细血管扩张性骨肉瘤:一份病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-08-21 DOI: 10.1186/s13256-024-04725-7
M P Kgagudi, N Mahlatsi, M Jingo
{"title":"Intra-abdominal telangiectatic osteosarcoma: a case report.","authors":"M P Kgagudi, N Mahlatsi, M Jingo","doi":"10.1186/s13256-024-04725-7","DOIUrl":"10.1186/s13256-024-04725-7","url":null,"abstract":"<p><strong>Background: </strong>Telangiectatic osteosarcoma is rare and it rarely affects flat bones, especially the bones of the pelvis. It is uncommon for telangiectatic osteosarcoma to be considered as a differential diagnosis when assessing a large intrabdominal mass.</p><p><strong>Case report: </strong>We present our case of a 33-year-old African female who presented with a sizeable telangiectatic osteosarcoma of the left iliac bone. She reported a 3-year duration of a painless, slow-growing mass arising from the left flank. At examination, a large bony hard mass extending from the left ilium to the umbilicus was noted, almost mimicking an intra-abdominal pregnancy. All laboratory tests were within normal limits and an unconventional surgical approach was used for a one-stage excision of the tumor without complications. The definitive histopathological diagnosis postexcision was that of a telangiectatic osteosarcoma only on the second review of the histological specimen.</p><p><strong>Conclusions: </strong>Pelvic telangiectatic osteosarcoma is rare, and the ilium is the commonly affected pelvic bone. These tumors can be sizeable at presentation with intra-abdominal or pelvic extension with a high chance of misdiagnosis. Fortunately surrounding soft tissue involvement seems to be a rare and late finding when present.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11337752/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142008937","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}
引用次数: 0
Bronchiectasis combined with chronic sinusitis following Celiac disease: a case report. 患有乳糜泻的支气管扩张症合并慢性鼻窦炎:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-08-20 DOI: 10.1186/s13256-024-04696-9
Ali Ghassa
{"title":"Bronchiectasis combined with chronic sinusitis following Celiac disease: a case report.","authors":"Ali Ghassa","doi":"10.1186/s13256-024-04696-9","DOIUrl":"10.1186/s13256-024-04696-9","url":null,"abstract":"<p><strong>Introduction: </strong>Celiac disease is a disease triggered by a protein called gluten. Celiac disease has intestinal and extraintestinal manifestations. Bronchiectasis is a permanent dilation of the bronchi that causes symptoms, such as cough producing a large amount of sputum, recurrent respiratory infections, and breathlessness. In addition, bronchiectasis can present in 60% of cases with chronic rhinosinusitis.</p><p><strong>Case presentation: </strong>A 40-year-old Arab woman presented with a worsening old cough with an increased amount of sputum; the patient was diagnosed with Celiac disease 7 months prior. Investigations started with laboratory tests followed by a computed tomography scan for the head and chest, bronchoscopy, bronchoalveolar lavage, and spirometry; the final diagnosis was bronchiectasis with chronic rhinosinusitis. She was advised to commit to the gluten-free diet, in addition to the medications prescribed for her bronchiectasis and chronic rhinosinusitis.</p><p><strong>Conclusion: </strong>Celiac disease and bronchiectasis might share an immunologic disturbance that caused both entities, so Celiac disease should be kept in mind as an etiology for pulmonary diseases.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11334302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142004423","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}
引用次数: 0
Presentations of Waugh's syndrome:intra-luminal cecal cyst and trans-anal prolapsing intussusception: a case report. 沃氏综合征的表现:腔内盲肠囊肿和经肛门脱垂肠套叠:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-08-19 DOI: 10.1186/s13256-024-04701-1
Mansoor Ahmed, Murad Habib, Huma Memon, Rafee Raza Ahmad, Muhammad Amjad Chaudhary
{"title":"Presentations of Waugh's syndrome:intra-luminal cecal cyst and trans-anal prolapsing intussusception: a case report.","authors":"Mansoor Ahmed, Murad Habib, Huma Memon, Rafee Raza Ahmad, Muhammad Amjad Chaudhary","doi":"10.1186/s13256-024-04701-1","DOIUrl":"10.1186/s13256-024-04701-1","url":null,"abstract":"<p><strong>Background: </strong>Intussusception with intestinal malrotation is termed as Waugh's syndrome. The incidence of Waugh's syndrome is less than 1%. There are very few reported cases. Once presented, it is a pediatric surgical emergency.</p><p><strong>Case presentation: </strong>We present here two cases of Waugh's syndrome: an 11-month-old male patient of Punjabi descent and a 4-month-old female patient of Afghan descent who presented to us with abdominal pain and bleeding per rectum. Abdominal sonography revealed an intussusception with a target sign. They were explored and perioperatively had intestinal malrotation alongside intussusception, thus a diagnosis of Waugh's syndrome was made. A right hemicolectomy and Ladd's procedure was performed.</p><p><strong>Conclusion: </strong>Waugh syndrome is a rare congenital anomaly but can present with vague abdominal symptoms. Once presented, it is a pediatric surgical emergency. The patient should be optimized followed by surgical exploration.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11331647/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142000109","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}
引用次数: 0
Transformation into acute myeloid leukemia with t(8;21)(q22;q22.1); RUNX1::RUNX1T1 from JAK2-mutated essential thrombocythemia: a case report. 从 JAK2 突变的原发性血小板增多症转变为 t(8;21)(q22;q22.1);RUNX1::RUNX1T1 急性髓性白血病:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-08-18 DOI: 10.1186/s13256-024-04691-0
Chie Asou, Tomoyuki Sakamoto, Kodai Suzuki, Itoko Okuda, Atsushi Osaki, Ryohei Abe, Yoshihiro Ito, Emi Kakegawa, Yoshitaka Miyakawa, Yasuhito Terui, Yuichi Nakamura
{"title":"Transformation into acute myeloid leukemia with t(8;21)(q22;q22.1); RUNX1::RUNX1T1 from JAK2-mutated essential thrombocythemia: a case report.","authors":"Chie Asou, Tomoyuki Sakamoto, Kodai Suzuki, Itoko Okuda, Atsushi Osaki, Ryohei Abe, Yoshihiro Ito, Emi Kakegawa, Yoshitaka Miyakawa, Yasuhito Terui, Yuichi Nakamura","doi":"10.1186/s13256-024-04691-0","DOIUrl":"10.1186/s13256-024-04691-0","url":null,"abstract":"<p><strong>Background: </strong>Blast transformation is a rare but well-recognized event in Philadelphia-negative myeloproliferative neoplasms associated with a poor prognosis. Secondary acute myeloid leukemias evolving from myeloproliferative neoplasms are characterized by a unique set of cytogenetic and molecular features distinct from de novo disease. t(8;21) (q22;q22.1); RUNX1::RUNX1T1, one of the most frequent cytogenetic abnormalities in de novo acute myeloid leukemia, is rarely observed in post-myeloproliferative neoplasm acute myeloid leukemia. Here we report a case of secondary acute myeloid leukemia with t(8;21) evolving from JAK2-mutated essential thrombocythemia.</p><p><strong>Case presentation: </strong>The patient was a 74-year-old Japanese woman who was referred because of thrombocytosis (platelets 1046 × 10<sup>9</sup>/L). Bone marrow was hypercellular with increase of megakaryocytes. Chromosomal analysis presented normal karyotype and genetic test revealed JAK2 V617F mutation. She was diagnosed with essential thrombocythemia. Thrombocytosis had been well controlled by oral administration of hydroxyurea; 2 years after the initial diagnosis with ET, she presented with leukocytosis (white blood cells 14.0 × 10<sup>9</sup>/L with 82% of blasts), anemia (hemoglobin 91 g/L), and thrombocytopenia (platelets 24 × 10<sup>9</sup>/L). Bone marrow was hypercellular and filled with 80% of myeloperoxidase-positive blasts bearing Auer rods. Chromosomal analysis revealed t(8;21) (q22;q22.1) and flow cytometry presented positivity of CD 13, 19, 34, and 56. Molecular analysis showed the coexistence of RUNX1::RUNX1T1 chimeric transcript and heterozygous JAK2 V617F mutation in leukemic blasts. She was diagnosed with secondary acute myeloid leukemia with t(8;21)(q22;q22.1); RUNX1::RUNX1T1 evolving from essential thrombocythemia. She was treated with combination chemotherapy with venetoclax and azacytidine. After the first cycle of the therapy, blasts disappeared from peripheral blood and decreased to 1.4% in bone marrow. After the chemotherapy, RUNX1::RUNX1T1 chimeric transcript disappeared, whereas mutation of JAK2 V617F was still present in peripheral leukocytes.</p><p><strong>Conclusions: </strong>To our best knowledge, the present case is the first one with JAK2 mutation preceding the acquisition of t(8;21). Our result suggests that t(8;21); RUNX1::RUNX1T1 can be generated as a late event in the progression of JAK2-mutated myeloproliferative neoplasms. The case presented typical morphological and immunophenotypic features associated with t(8;21) acute myeloid leukemia.</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/PMC11330597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995868","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}
引用次数: 0
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