AME Case Reports最新文献

{"title":"Fibromatosis of the breast: a case report and literature review.","authors":"Olutayo Sogunro, Sahlia Joseph-Pauline, Eniola Oluyemi, Seoho Lee, Jeffrey Pinco","doi":"10.21037/acr-24-84","DOIUrl":"10.21037/acr-24-84","url":null,"abstract":"<p><strong>Background: </strong>Fibromatosis of the breast, also known as desmoid-type fibromatosis (DTF), is a rare tumor marked by the development of non-metastatic, locally aggressive tumors in breast tissue. It represents only 0.2% of all breast tumors. It is a nonmalignant tumor that often resembles cancer in both its clinical presentation and radiologic imaging characteristics, posing unique diagnostic and management challenges.</p><p><strong>Case description: </strong>This is a case report of a 34-year-old female with a history of bilateral silicone implant placement who presented with bilateral breast masses. She reported a 6-month history of a 1-cm firm, palpable mass in the right breast without associated pain or growth. She had a family history of breast, pancreatic, and prostate cancer but no significant past medical history. Ultrasound-guided biopsy of the right breast and magnetic resonance imaging (MRI)-guided biopsy of the left breast both revealed fibromatoses. She underwent bilateral excisional biopsies and surgical pathology confirmed breast fibromatosis in the background of benign breast tissue with fibrocystic changes. The patient had an uncomplicated post-operative course.</p><p><strong>Conclusions: </strong>This case report of a patient with prior breast augmentation surgery highlights the clinical presentation, diagnosis, and management of breast fibromatosis. The intricate relationship between desmoid tumors and factors such as tissue injury, surgical trauma, exogenous hormone exposure, and genetics is discussed. Ultimately, comprehensive diagnostic and therapeutic approaches with individualized treatment strategies are essential for managing fibromatosis effectively.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"24"},"PeriodicalIF":0.7,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048042","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":"AQP4 antibody-seropositive neuromyelitis optica spectrum disorder in a patient with mixed connective tissue disease: a case report.","authors":"Ennio Polilli, Paola Volpe, Jessica Elisabetta Esposito, Annalisa Di Risio, Caterina Di Carmine, Giancarlo Di Iorio, Marco Gabini, Pierluigi Tocco","doi":"10.21037/acr-23-48","DOIUrl":"10.21037/acr-23-48","url":null,"abstract":"<p><strong>Background: </strong>Neuromyelitis optica spectrum disorders (NMOSDs) are degenerative diseases frequently associated with severe recurrences and high risk of progressive disability. In this report, we describe an unusual case of a patient with the coexistence between NMOSD and mixed connective tissue disease (MCTD).</p><p><strong>Case description: </strong>A 58-year-old Caucasian man was admitted to the Emergency Department (ED) with low back pain and walking inability. He had an unsteady gait, paraesthesia of the lower limbs and pain in the left lumbar area of the spine. He previously manifested repeated episodes of Raynaud's phenomenon. The neurological examination revealed pyramidal signs with asymmetric and progressive paraparesis associated with hypoesthesia and bladder dysfunction. A spine magnetic resonance imaging (MRI) revealed the presence of a long extensive cervico-dorsal myelitis. Among laboratory analyses, serum immunometric examinations came back positive for anti-RNP (272 U/mL) and anti-SSA (20 U/mL) antibodies, whereas a recombinant immunofluorescence assay revealed the presence of immunoglobulin G (IgG) antibodies against AQP4. Consequently, he was treated with high-doses of corticosteroids, with progressive resolution of symptoms. To date, his last cervico-dorsal spine MRI showed negative results.</p><p><strong>Conclusions: </strong>Only a few anecdotal cases of the coexistence between NMOSD and MCTD have so far been described, and many clinical aspects of this association are not yet fully known. Missed diagnosis of rheumatologic or neurologic diseases may lead to treatment delay and, potentially, irreversible disability. Closer collaboration between neurologists and rheumatologists is needed for the early diagnosis of both diseases.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"30"},"PeriodicalIF":0.7,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11761318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047916","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":"Uterine cystic adenomyosis: a case report.","authors":"Xudong Ma, Jinlu Shen, Rongrong Tang, Fangying Sun, Wenjie Chen, Jianhua Yang","doi":"10.21037/acr-24-143","DOIUrl":"10.21037/acr-24-143","url":null,"abstract":"<p><strong>Background: </strong>Uterine cystic adenomyosis (CA) is a unique form of adenomyosis with a single or fused lumen of the cystic space exceeding a diameter of 1 cm that typically results in progressively worsening dysmenorrhea. In most cases, the prognosis and pregnancy outcomes of CA remained unclear, and therefore further studies are warranted.</p><p><strong>Case description: </strong>A 19‑year‑old woman was admitted for irregular vaginal bleeding that lasted for more than one month. Transabdominal B-ultrasound examination revealed a hypoechoic nodule measuring approximately 4.8 cm × 3.9 cm × 4.9 cm that is situated on the posterior wall of the uterus, in close proximity to the uterine fundus. The preoperative diagnosis was concluded as a pelvic mass with a cancer antigen 125 (CA125) level of 51.48 U/mL. She accepted a laparoscopic myomectomy and the CA lesion crossing the myometrium was removed. During operation, dense adhesions were found among a portion of the colorectum, omentum, uterus and bilateral adnexal areas. A cystic mass of approximately 7.0 cm × 5.0 cm × 4.0 cm was visible in the posterior wall of the uterus, and a sinus of approximately 1.0 cm in diameter was found to be connected to the uterine cavity at the lower posterior wall of the uterus, and the cystic wall was attached to the endometrium. Based on the classification criteria of MUSCLE (myometrial location, uterine site, structure, contents, level, endometrial or inner lining), the current case is classified as an A1-B1 mixed type. Following surgery, GnRH-a consolidation therapy was applied for 3 months. Such treatment relieved her symptoms and improved her quality of life while preserving her reproductive function.</p><p><strong>Conclusions: </strong>This is the first reported case of an A1-B1 mixed type CA that was successfully treated by laparoscopic surgery supplemented with GnRH-a consolidation therapy.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"23"},"PeriodicalIF":0.7,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11760926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047852","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":"Gastric cancer patient with <i>MET</i> amplification treated with crizotinib achieves long-term survival: a case report.","authors":"Weifeng Xu, Caiyun Nie, Hui Wang, Huifang Lv, Beibei Chen, Jianzheng Wang, Saiqi Wang, Jing Zhao, Yunduan He, Zhongkang Li, Haiyan Kang, Xiaobing Chen","doi":"10.21037/acr-24-118","DOIUrl":"10.21037/acr-24-118","url":null,"abstract":"<p><strong>Background: </strong>Gastric cancer (GC) is one of the leading contributors to global malignancies incidence and mortality worldwide. Advanced GC had a relatively poor prognosis. The emerging of targeted therapy improved the survival and prognosis of GC patients. In the treatment of GC, crizotinib, although an unapproved drug, has shown satisfactory treatment benefits in some cases.</p><p><strong>Case description: </strong>A GC hepatocyte growth factor receptor (<i>MET</i>) amplification patient with extensive abdominal cavity metastasis who was diagnosed as intermediate-low differentiated adenocarcinoma. After 34 months of treatment with crizotinib, the patient's <i>MET</i> gene amplification mutation disappeared and gained high-quality life during this period. However, based on new testing evidence, the patient's tumor lesion did not disappear and there were Class II mutations such as <i>tumor protein p53</i> (<i>TP53</i>) mutations and <i>kirsten rat sarcoma viral oncogene homologue</i> (<i>KRAS</i>) amplification, Class III mutations such as <i>caspase recruitment domain family member 11</i> (<i>CARD11</i>)<i>, lysine methyltransferase 2D</i> (<i>MLL2</i>)<i>, and kinetochore localized astrin binding protein</i> (<i>C15orf23</i>) mutations. Based on genetic testing results, a mini patient-derived xenograft (miniPDX) mouse model was used for drug sensitivity testing to screen effective targeted drugs for this patient. The time window since the miniPDXs model establishment and drug sensitivity results came out took about 2 weeks. The final analysis showed that trametinib exhibited a strong inhibition of tumor cell growth in this sample.</p><p><strong>Conclusions: </strong>This report describes a GC <i>MET</i> amplification patient who treated with crizotinib for 34 months. During the period, the patient's <i>MET</i> amplification mutation disappeared and gained high-quality life. After drug resistance developed, trametinib was used according to the new mutation sites. Until now. The patient got a good quality of life for three years, which is relatively rare among the reported cases.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"27"},"PeriodicalIF":0.7,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11761320/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048073","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":"Phakomatosis pigmentovascularis type 2a: a rare case report.","authors":"Ahmed Dilli, Rawan AlDosari, Ruba Altowayan, Yasmeen Alfouzan, Asem Shadid, Lamia Alakrash","doi":"10.21037/acr-24-12","DOIUrl":"10.21037/acr-24-12","url":null,"abstract":"<p><strong>Background: </strong>Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome characterized by capillary malformation and extensive dermal melanosis. The complexity of PPV is reflected in its evolving classification systems. Systemic manifestations encompass ocular, neurological, vascular, musculoskeletal, and renal involvement. The pathogenesis, linked to abnormalities in neural cell development and migration, contributes to the varied clinical features of PPV. We describe a rare case of a 21-month-old Saudi girl who presented to our clinic with features of PPV type 2a.</p><p><strong>Case description: </strong>A 21-month-old Saudi girl presented to the clinic with erythematous to violaceous patches and diffuse greyish patches over her back and buttocks since birth. Examination revealed port-wine stains, extensive Mongolian spots, and a slight lower limb length discrepancy. The mother reported a single febrile seizure episode previously. The patient underwent an ophthalmological examination where the overall impression was unremarkable. She was referred to Pediatric Neurology for further investigation.</p><p><strong>Conclusions: </strong>PPV manifests through the simultaneous presence of vascular and melanocytic components. The classification of PPV has evolved over time, incorporating additional types and simplified groupings. Our case aligns with PPV type 2a and underscores the necessity for investigations considering potential systemic complications. Despite the generally benign course of PPV, tailored interventions, such as laser therapy, prove valuable for cosmetic improvement. The importance of regular follow-ups and collaboration among medical specialties, especially in Neurology, Ophthalmology, and Vascular surgery, is necessary for comprehensive care of individuals with PPV.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"19"},"PeriodicalIF":0.7,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048158","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":"Radical tumor resection of a relapsed high-grade endometrial stromal sarcoma with an extremely rare mutation: a case report.","authors":"Anastasios Potiris, Athanasios Zikopoulos, Dimitrios Baltogiannis, Alexandros Fotiou, Theodoros Karampitsakos, Spyridon Topis, Charikleia Skentou, Panagiotis Christopoulos, Ekaterini Domali, Peter Drakakis, Sofoklis Stavros","doi":"10.21037/acr-24-177","DOIUrl":"10.21037/acr-24-177","url":null,"abstract":"<p><strong>Background: </strong>Endometrial stromal sarcomas (ESS) are rare uterine mesenchymal tumors that histologically resemble endometrial stroma of functioning endometrium. The key characteristic of those tumors is the difficulty to diagnose preoperatively that leads to high rate of misdiagnosis. The aim of this case report is to present an extremely rare mutation of these already rare tumors and urge for more personalized therapies in the future.</p><p><strong>Case description: </strong>We present a case of a 62-year-old postmenopausal patient initially diagnosed with high-grade ESS (HG-ESS). In her routine follow-up, her computerized tomography (CT) and positron emission tomography-CT (PET-CT) scan showed a relapse in the vaginal vault and enlarged left iliac lymph nodes. The patient did not respond to chemotherapy and suffered from severe abdominal pain and her quality of life severely deteriorated. A cytoreduction laparotomic surgery was decided with complete resection (R0) of the tumor in the pelvis with no visible residual disease. Chemosensitivity and gene expression analysis report showed a high tumor mutation burden with 11 mutations/Mb and the detection of <i>COL1A1</i>-<i>PDGFβ</i> fusion. <i>COL1A1</i>-<i>PDGFβ</i> fusion is an extremely rare mutation observed in ESS with only a handful of cases in the literature and is suggestive of potential therapeutic benefit from imatinib administration. HG-ESS have frequent recurrences and intermediate prognosis.</p><p><strong>Conclusions: </strong>Recurrent or advanced tumors should be treated aggressively with chemotherapy and radiation. Effort for complete resection and targeted therapy should be offered to the patients. Discovery of rare mutations might offer better personalized therapies in the future. Despite its radicality, cytoreductive surgery is a valid option in cases where life quality has severely deteriorated, offering a few qualitative months of life to the patient.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"26"},"PeriodicalIF":0.7,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11760518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048160","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":"Polymicrobial infection presenting as non-clostridial gas gangrene in a patient with an open pelvic ring fracture accompanied by abdominal evisceration: a case report.","authors":"Kenichi Takeno, Motoki Sugano, Yasuo Kokubo","doi":"10.21037/acr-24-128","DOIUrl":"10.21037/acr-24-128","url":null,"abstract":"<p><strong>Background: </strong>Open pelvic fractures are rare but represent a serious clinical problem with high mortality rates. Acute mortality is often associated with hemorrhage, whereas delayed mortality is most often associated with sepsis and multiple organ failure. We report a case of Wang's classification of type II open pelvic ring fracture with hemorrhagic shock and septic shock from gas gangrene.</p><p><strong>Case description: </strong>A healthy 41-year-old man presented with an open pelvic ring fracture and a laceration in the lower abdomen sustained at an ironworks. His hemodynamic status was unstable. Pelvic ring stabilization with an external fixator, ligation of the median sacral and bilateral internal iliac arteries, partial resection of the ileum, appendectomy, and intra-abdominal pelvic packing were performed. Seven days after the injury, he developed a single spike fever of 39.8 ℃ with a significant pus discharge from the open wound around his groin. A computed tomography scan revealed an accumulation of gas around the sacroiliac joint, in the abdominal cavity, and the adductors and gluteus maximus muscles caused by non-clostridial gas gangrene. We performed surgical debridement three times and initiated vancomycin administration. Hyperbaric oxygen therapy was also initiated as an adjunctive therapy. The patient could walk with a cane 5 months after the injury.</p><p><strong>Conclusions: </strong>We described a multidisciplinary case of a patient with a Wang type II open pelvic fracture who required emergent damage control and subsequently developed anaerobic sepsis. Bleeding was controlled by packing gauze into the intraperitoneal cavity and applying external fixation to the pelvic ring. However, it is important to administer prophylactic antibiotics against anaerobic bacteria and to detect subsequent infections early when packing gauze into the intraperitoneal cavity in patients with open pelvic fractures.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"29"},"PeriodicalIF":0.7,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048159","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":"Cryoablation for airway stenosis caused by malignant pulmonary epithelioid hemangioendothelioma: a case report.","authors":"Li Wang, Yingjun Kong, Yao Zhang, Chuanyong Mu","doi":"10.21037/acr-24-106","DOIUrl":"10.21037/acr-24-106","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary epithelioid hemangioendothelioma (P-EHE) is a rare vascular tumor derived from mesenchymal cells with an incidence of about 1/1 million. The etiology remains unclear, and there are no established treatment guidelines. The tumor can occur in a variety of organs, among which the liver, lung and bone are the most commonly involved, with different clinical manifestations, mainly depending on the organ involved, but none of them is specific. Most epithelioid hemangioendotheliomas are indolent and can achieve long-term survival even without any treatment. The prognosis of patients with primary liver or lung diseases is poor, and P-EHE has the highest mortality rate. Clinical reports of airway stenosis caused by P-EHE are exceedingly rare.</p><p><strong>Case description: </strong>We report a case of a middle-aged female patient with initial diagnostic difficulties leading to misdiagnosis, which was eventually confirmed as P-EHE by pathology. Despite radiotherapy, chemotherapy, and antiangiogenic therapy, the efficacy was limited, resulting in severe airway stenosis in the advanced stage of the disease, with severe clinical symptoms. After bronchoscopic cryoablation, the oxygenation index of the patient was significantly improved, and the quality of life was significantly improved.</p><p><strong>Conclusions: </strong>This case underscores the complexity of diagnosing and managing P-EHE and illustrates the potential of cryoablation as an effective treatment for severe airway stenosis secondary to this rare tumor.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"28"},"PeriodicalIF":0.7,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759930/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047983","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":"Tailgut cyst, management of a rare perianal mass: a case report.","authors":"Jenna de Crombrugghe, Sorin Cimpean, Laurine Verset, Abdelilah Mehdi","doi":"10.21037/acr-24-133","DOIUrl":"10.21037/acr-24-133","url":null,"abstract":"<p><strong>Background: </strong>A perianal mass has a wide range of possible diagnoses, including tailgut cysts. Tailgut cysts are congenital, and their development is slow. Because its most common placement is retro-rectal, it is extremely rare to find it on the perianal level only. It is possible to develop neoplastic or infectious problems. Consequently, proper support is required.</p><p><strong>Case description: </strong>We present a case of perianal tailgut cyst in a 59-year-old man who sought help for painless anal discomfort. Nuclear magnetic resonance was used to conduct this assessment. The radiologist thought it was probably benign, but he was not able to find a precise diagnosis. Thus, the cyst was completely removed using a transanal way with the patient in a lithotomy position. Then, the anatomopathological examination had confirmed the diagnosis and the benignity of the cyst. The postoperative follow-up was uneventful. We had planned to see the patient for a clinical follow-up every six months, but he has refused so far.</p><p><strong>Conclusions: </strong>Tailgut cysts are uncommon in the perianal area but should be included in the differential diagnosis of perianal masses and should not be confused with an abscess or a haemorrhoid. The nuclear magnetic resonance appears to be the most appropriate radiological examination for the assessment of these masses. Excision is performed systematically to confirm the diagnosis and exclude a malignant condition thanks to the anatomopathological examination.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"18"},"PeriodicalIF":0.7,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11760925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047799","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":"Differential response to immunotherapy in different lesions of MSI-H double primary colorectal cancer: a case report and literature review.","authors":"Zhigui Guo, Dan Hong, Yaning Wei, Yue Huo, Shenyong Su, Yan Shi, Lin An, Kunjie Wang, Yajing Su, Zhiyu Wang","doi":"10.21037/acr-24-137","DOIUrl":"10.21037/acr-24-137","url":null,"abstract":"<p><strong>Background: </strong>Mucinous adenocarcinoma is a rare type of colorectal cancer (CRC) associated with poor prognosis, particularly when it includes signet ring cell components. Furthermore, its rate of microsatellite instability-high (MSI-H) is significantly higher compared to non-mucinous adenocarcinoma. Immunotherapy has emerged as the standard treatment for MSI-H metastatic CRC (mCRC). In the KEYNOTE-177 trial, for individuals with advanced CRC exhibiting MSI-H or mismatch repair deficiency (dMMR), treatment with pembrolizumab as a single agent demonstrated a superior outcome compared to standard systemic chemotherapy. The study revealed a notably higher objective response rate (43.8% versus 33.1%) and an extended progression-free survival duration (16.5 versus 8.2 months). These findings imply that pembrolizumab may be regarded as a front-line treatment option for patients with advanced CRC who have MSI-H/dMMR status.</p><p><strong>Case description: </strong>The patient with double primary CRC, both of which were identified as MSI-H through next generation sequencing (NGS). Following a regimen of immunotherapy-based combination therapy, the rectal lesion achieved a complete clinical response (cCR), while the colon lesion displayed continued progression, indicating primary resistance to treatment.</p><p><strong>Conclusions: </strong>Specific histological subtypes of CRC, such as mucinous adenocarcinoma, might adversely affect the efficacy of immunotherapy, resulting in primary treatment resistance. Consequently, in the case of this particular cancer subtype, local surgical resection may be a more appropriate treatment strategy.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"9 ","pages":"17"},"PeriodicalIF":0.7,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11760919/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048012","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}