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Treatment for SMARCA4-deficient carcinoma of uterine cervix.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2023-258711
Takuya Yokoe, Kaede Oku, Yuri Noda, Masato Kita
{"title":"Treatment for SMARCA4-deficient carcinoma of uterine cervix.","authors":"Takuya Yokoe, Kaede Oku, Yuri Noda, Masato Kita","doi":"10.1136/bcr-2023-258711","DOIUrl":"https://doi.org/10.1136/bcr-2023-258711","url":null,"abstract":"<p><p>SMARCA4-deficient undifferentiated cervical carcinoma is an extremely rare and aggressive malignancy, and effective treatment options are lacking. We experienced a rare case involving a patient with SMARCA4-deficient undifferentiated cervical carcinoma who was successfully managed in the long term. A woman in her 40s presented with a chief complaint of abnormal vaginal bleeding. A cervical biopsy revealed adenocarcinoma; thus, radical hysterectomy was performed with R0 tumour resection. Histopathological examination of the resected tumour showed rhabdoid features under (H&E) staining and negativity for SMARCA4 under immunohistochemical staining. Given the poor prognosis associated with SMARCA4-deficient carcinoma, adjuvant radiotherapy was added. Follow-up for more than a year revealed no evidence of recurrence. For undifferentiated cervical carcinoma with rhabdoid features on H&E staining, SMARCA4 immunostaining may be considered for risk classification and recurrence prevention. R0 resection and postoperative adjuvant radiotherapy may contribute to a good prognosis for patients with SMARCA4-deficient carcinoma.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Congestive myelopathy secondary to epidural venous engorgement and venous congestion in a patient with Budd-Chiari syndrome and its management through inferior vena cava stenting.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2024-263306
Biswajit Sahoo, Manas Kumar Panigrahi, Shubham Gupta, Manoj Kumar Nayak
{"title":"Congestive myelopathy secondary to epidural venous engorgement and venous congestion in a patient with Budd-Chiari syndrome and its management through inferior vena cava stenting.","authors":"Biswajit Sahoo, Manas Kumar Panigrahi, Shubham Gupta, Manoj Kumar Nayak","doi":"10.1136/bcr-2024-263306","DOIUrl":"https://doi.org/10.1136/bcr-2024-263306","url":null,"abstract":"<p><p>Budd-Chiari syndrome with obstruction in the inferior vena cava causes increased venous pressure in the azygous-hemiazygous system and paravertebral venous plexus, which is transmitted to the epidural venous plexus, devoid of the valves. It causes epidural venous plexus engorgement and venous congestion and may present rarely with low back pain or radiating pain. However, patients developing lower limb weakness as a complication of Budd-Chiari syndrome is an infrequent and severe presentation. Herein, we describe a case of Budd-Chiari syndrome with chronic inferior vena cava thrombosis in a patient in his 40s presenting with lower limb weakness, which improved after inferior vena cava stenting. In patients with back pain or lower limb weakness due to epidural venous engorgement and venous congestion, inferior vena cava occlusion secondary to Budd-Chiari syndrome should always be kept in mind, which can be treated successfully with endovascular stenting. Also, early intervention in Budd-Chiari syndrome can prevent permanent neurological deficits and the long-term complications of cirrhosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Systemic siliconomas following breast implant rupture.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2024-262040
Beatriz Pereira Gonçalves, Catarina Rodrigues Dos Santos
{"title":"Systemic siliconomas following breast implant rupture.","authors":"Beatriz Pereira Gonçalves, Catarina Rodrigues Dos Santos","doi":"10.1136/bcr-2024-262040","DOIUrl":"https://doi.org/10.1136/bcr-2024-262040","url":null,"abstract":"<p><p>We report a case of a woman in her late 40s with a history of breast implant surgery following breast cancer treatment. She presented with asymmetrical breast enlargement, palpable contralateral axillary lymph nodes and cutaneous nodules on both forearms. In addition, imaging evaluation revealed intracapsular implant rupture, ipsilateral internal mammary enlarged lymph nodes and multiple mediastinal lymphadenopathies. Skin and axillary lymph node biopsy demonstrated a chronic granulomatous reaction with foreign-body giant cells related to silicone. Following surgical removal of the breast implant, cutaneous nodules disappeared, and all lymph nodes decreased in size. Systemic deposition of silicone in the form of foreign-body granulomas, also known as siliconomas, is a rare complication of breast implant rupture, which is thought to result from silicone lymphatic or hematogenous migration. In the setting of breast cancer, excluding recurrence should be a priority. While there is no standardised therapeutic approach, implant removal can be an option.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome in a patient with subacute cutaneous lupus (SCLE).
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2024-261174
Stephanie Tancer, Kyla Rodgers, Douglas Fullen, J Michelle Kahlenberg
{"title":"Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome in a patient with subacute cutaneous lupus (SCLE).","authors":"Stephanie Tancer, Kyla Rodgers, Douglas Fullen, J Michelle Kahlenberg","doi":"10.1136/bcr-2024-261174","DOIUrl":"https://doi.org/10.1136/bcr-2024-261174","url":null,"abstract":"<p><p>A man in his 60s suffered from refractory, biopsy-proven subacute cutaneous lupus erythematosus that required chronic, moderate dose steroids to manage. His rash was accompanied by arthralgias and negative autoantibody testing. His subacute lupus erythematosus (SCLE) was responsive to tofacitinib, but thrombotic complications limited the use of this medication. He continued prednisone 20 mg daily to manage his symptoms until treatment with anifrolumab completely cleared his skin. During a subsequent prednisone taper, he developed a macrocytic anaemia and elevated liver function tests that continued to progress. Ultimately, a bone marrow biopsy and myeloid next-generation sequencing revealed cellular vacuoles and UBA1 gene mutation, respectively, consistent with a diagnosis of VEXAS (<u>v</u>acuoles, <u>E</u>1 enzyme, <u>X</u>-linked, <u>a</u>utoinflammatory, <u>s</u>omatic) syndrome. We believe the chronic steroid use to control his SCLE masked the underlying diagnosis for many years.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dasatinib-induced colitis in a patient with chronic myeloid leukaemia.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2024-263646
Alexander Edmund Gluch, Deloshaan Subhaharan, Sooraj Pillai, Pradeep Kakkadasam Ramaswamy
{"title":"Dasatinib-induced colitis in a patient with chronic myeloid leukaemia.","authors":"Alexander Edmund Gluch, Deloshaan Subhaharan, Sooraj Pillai, Pradeep Kakkadasam Ramaswamy","doi":"10.1136/bcr-2024-263646","DOIUrl":"https://doi.org/10.1136/bcr-2024-263646","url":null,"abstract":"<p><p>Dasatinib is a common treatment for chronic myeloid leukaemia with numerous side effects including gastrointestinal. We report a woman in her 50s who presented with haematochezia, weight loss and a positive faecal occult blood test. She was being treated for chronic myeloid leukaemia with dasatinib without the use of any concurrent medications, including non-steroidal anti-inflammatory drugs. Initial colonoscopy demonstrated moderate patchy left-sided inflammation, with biopsies revealing mild chronic inflammation and prominent eosinophilia. Dasatinib was subsequently ceased, and a repeat colonoscopy 3 months later demonstrated completely resolved inflammation both endoscopically and histologically.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Concurrent myasthenia gravis and neuromyelitis optica spectrum disorder: a rare intersection of autoimmune pathologies.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2024-263081
Abdulkadir Tunç, Ömer Elçİ, Alihan Akbas, Samet Oncel
{"title":"Concurrent myasthenia gravis and neuromyelitis optica spectrum disorder: a rare intersection of autoimmune pathologies.","authors":"Abdulkadir Tunç, Ömer Elçİ, Alihan Akbas, Samet Oncel","doi":"10.1136/bcr-2024-263081","DOIUrl":"https://doi.org/10.1136/bcr-2024-263081","url":null,"abstract":"<p><p>This case report describes a woman in her 50s with a rare coexistence of neuromyelitis optica spectrum disorder (NMOSD) and myasthenia gravis (MG), highlighting the diagnostic challenges and therapeutic considerations. Initially diagnosed with acetylcholine receptor antibody-positive MG, she later developed progressive visual impairment, leading to a diagnosis of NMOSD. Rituximab treatment was effective in managing both conditions, demonstrating the benefits of targeted therapies in reducing complications related to polypharmacy. This case underscores the importance of clinical vigilance and a multidisciplinary approach in managing overlapping autoimmune disorders, offering insights into their inter-relationships and therapeutic strategies.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pulmonary cement embolism.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2024-263637
Kurinji Ramachandran Senthamizh, Irfan Ismail Ayub, Abdul Majeed Arshad, Dhanasekar Thangaswamy
{"title":"Pulmonary cement embolism.","authors":"Kurinji Ramachandran Senthamizh, Irfan Ismail Ayub, Abdul Majeed Arshad, Dhanasekar Thangaswamy","doi":"10.1136/bcr-2024-263637","DOIUrl":"https://doi.org/10.1136/bcr-2024-263637","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Successful pregnancy outcome in a recipient of simultaneous pancreatic kidney transplantation.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2024-261484
Venkata Kanaka Naga Karthik Nasika, Ashish Sharma, Deepesh B Kenwar, Seema Chopra
{"title":"Successful pregnancy outcome in a recipient of simultaneous pancreatic kidney transplantation.","authors":"Venkata Kanaka Naga Karthik Nasika, Ashish Sharma, Deepesh B Kenwar, Seema Chopra","doi":"10.1136/bcr-2024-261484","DOIUrl":"https://doi.org/10.1136/bcr-2024-261484","url":null,"abstract":"<p><p>There is limited information available regarding post-simultaneous pancreatic kidney transplantation (SPKT) pregnancies. The present case describes a woman in her early 30s with first pregnancy who conceived spontaneously 4 years after SPKT. Her pancreatic and kidney graft function remained stable throughout the pregnancy. Creatinine was 0.6-0.7 mg/dL and Hemoglobin A1C (HbA1C) was 5.1%. There was no pre-eclampsia, gestational diabetes, rejection or infection. There was gestational thrombocytopenia, which was managed conservatively. Tacrolimus levels fell during the antenatal period and subsequently rose post partum. Mycophenolate was discontinued and switched to azathioprine 6 weeks prior. Caesarean section was done at 36 weeks because of oligohydramnios and vaginal warts delivering a healthy, live, full-term baby. Her graft function was stable on follow-up and the baby was doing well. High-risk pregnancies occur in female SPKT recipients. A multidisciplinary team should closely monitor the course of pregnancy events and immunosuppression.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Leukostasis in chronic lymphocytic leukaemia; a very rare cause of sudden hearing loss.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2023-259215
James Peter Wilson
{"title":"Leukostasis in chronic lymphocytic leukaemia; a very rare cause of sudden hearing loss.","authors":"James Peter Wilson","doi":"10.1136/bcr-2023-259215","DOIUrl":"https://doi.org/10.1136/bcr-2023-259215","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl.
IF 0.6
BMJ Case Reports Pub Date : 2025-01-04 DOI: 10.1136/bcr-2024-263412
Vijayakumar Karthik, Puthiyaveetil Khadar Jabbar, Ahmad Alam, Abilash Nair
{"title":"Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl.","authors":"Vijayakumar Karthik, Puthiyaveetil Khadar Jabbar, Ahmad Alam, Abilash Nair","doi":"10.1136/bcr-2024-263412","DOIUrl":"https://doi.org/10.1136/bcr-2024-263412","url":null,"abstract":"<p><p>We describe the case of a girl in her middle childhood who presented with signs of heterosexual precocious puberty in the form of axillary and pubic hair growth, acne and clitoromegaly. Investigations showed elevated androgens and autonomous cortisol excess, suggesting an adrenal source. CT imaging confirmed a left adrenal mass and multiple colonic polyps. The family history of colonic polyps in her father, along with the presence of congenital hypertrophy of the retinal pigment epithelium and colonic polyps on colonoscopy, led to a diagnosis of familial adenomatous polyposis (FAP), subsequently confirmed by genetic testing. The patient underwent a successful adrenalectomy, with histopathology confirming an adrenocortical adenoma. Postsurgery, her hormonal levels normalised and symptoms improved. This case presents a unique combination of heterosexual precocious puberty caused by a cortisol and androgen co-secreting adrenal tumour in a girl with FAP, highlighting the complex interplay between endocrine disorders and genetic syndromes.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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