Current problems in cancer. Case reports最新文献

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Kindler syndrome with intractable squamous cell carcinoma arising in the oral cavity: A case report and review of cases 金德勒综合征并发口腔难治性鳞状细胞癌:1例报告及病例回顾
IF 0.2
Current problems in cancer. Case reports Pub Date : 2025-06-16 DOI: 10.1016/j.cpccr.2025.100379
Akinari Sugauchi , Toshihiro Uchihashi , Emiko Tanaka Isomura , Soju Seki , Yuka Kimura , Eiji Kiyohara , Manabu Fujimoto , Susumu Tanaka , Atsushi Tanemura
{"title":"Kindler syndrome with intractable squamous cell carcinoma arising in the oral cavity: A case report and review of cases","authors":"Akinari Sugauchi ,&nbsp;Toshihiro Uchihashi ,&nbsp;Emiko Tanaka Isomura ,&nbsp;Soju Seki ,&nbsp;Yuka Kimura ,&nbsp;Eiji Kiyohara ,&nbsp;Manabu Fujimoto ,&nbsp;Susumu Tanaka ,&nbsp;Atsushi Tanemura","doi":"10.1016/j.cpccr.2025.100379","DOIUrl":"10.1016/j.cpccr.2025.100379","url":null,"abstract":"<div><div>Kindler syndrome (KS) is an extremely rare subtype of epidermolysis bullosa characterized by blistering of the extremities, progressive polymorphous skin atrophy, and mucosal inflammation. There is no curative therapy for KS, only symptomatic treatment. Patients with KS generally present with squamous cell carcinoma of the extremities and lips, which are more susceptible to irritation, with only a few cases involving the oral cavity. Herein, we report the case of a 53-year-old female patient with KS, who developed oral squamous cell carcinoma. While initial treatment with intensity-modulated radiation therapy was successful, shortly thereafter, she relapsed and was not responsive to multiple rounds of chemotherapy. Ultimately, palliative care at home was suggested. While the patient received radiation therapy and chemotherapy, she complained of difficulty breathing due to the tumor, especially during the last round of chemotherapy. As a result of aggressive weight reduction of tumor necrotic tissue, the patient's respiratory distress improved. Based on our experience in this case, we propose that the removal of oral tumor necrotic tissues, which is not often performed as part of conventional curative treatment approaches, can sometimes be efficacious for the maintenance of the quality of life, especially in a palliative context for OSCC patients with KS.</div></div>","PeriodicalId":72741,"journal":{"name":"Current problems in cancer. Case reports","volume":"19 ","pages":"Article 100379"},"PeriodicalIF":0.2,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144307036","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
Co-existence of EGFR T790M-acquired lung adenocarcinoma and transformation into small-cell carcinoma in different organs after osimertinib treatment. A case report 奥西替尼治疗后EGFR t790m获得性肺腺癌共存并向不同器官小细胞癌转化。病例报告
IF 0.2
Current problems in cancer. Case reports Pub Date : 2025-06-08 DOI: 10.1016/j.cpccr.2025.100376
Masahide Takeda, Mariko Asano, Sho Sakamoto, Yuka Izumiya, Yuji Okuda, Kazuhiro Sato, Katsutoshi Nakayama
{"title":"Co-existence of EGFR T790M-acquired lung adenocarcinoma and transformation into small-cell carcinoma in different organs after osimertinib treatment. A case report","authors":"Masahide Takeda,&nbsp;Mariko Asano,&nbsp;Sho Sakamoto,&nbsp;Yuka Izumiya,&nbsp;Yuji Okuda,&nbsp;Kazuhiro Sato,&nbsp;Katsutoshi Nakayama","doi":"10.1016/j.cpccr.2025.100376","DOIUrl":"10.1016/j.cpccr.2025.100376","url":null,"abstract":"<div><div>We report a rare case of a 59-year-old man with EGFR-mutated lung adenocarcinoma who developed osimertinib resistance, with coexisting T790M-positive adenocarcinoma and T790M-negative small-cell carcinoma in different organs. After treatment with gefitinib, chemotherapy, osimertinib, and subsequent chemotherapy, the patient presented with progressive disease, including pericardial effusion and mediastinal lymphadenopathy. Cytology of the pericardial fluid confirmed adenocarcinoma, while lymph node biopsy revealed transformation to small-cell carcinoma. Rechallenge with osimertinib successfully controlled the pericardial effusion, but the disease ultimately progressed. This case emphasizes the importance of re-biopsy for understanding resistance mechanisms and highlights the challenges of managing dual histologic transformation in lung cancer, particularly when transformation to small-cell carcinoma occurs in different anatomical sites.</div></div>","PeriodicalId":72741,"journal":{"name":"Current problems in cancer. Case reports","volume":"19 ","pages":"Article 100376"},"PeriodicalIF":0.2,"publicationDate":"2025-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144321708","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
Granular cell tumor of the breast in a male: A case report and literature review of ultra-rare breast masses in men 男性乳腺颗粒细胞瘤:男性超罕见乳腺肿块1例报告及文献复习
IF 0.2
Current problems in cancer. Case reports Pub Date : 2025-06-02 DOI: 10.1016/j.cpccr.2025.100372
Sarah Gaston , Sarah Blau , Summer Nasr , Constance Cashen , Rodolfo Caños , Stephen Strobel , Olutayo Sogunro
{"title":"Granular cell tumor of the breast in a male: A case report and literature review of ultra-rare breast masses in men","authors":"Sarah Gaston ,&nbsp;Sarah Blau ,&nbsp;Summer Nasr ,&nbsp;Constance Cashen ,&nbsp;Rodolfo Caños ,&nbsp;Stephen Strobel ,&nbsp;Olutayo Sogunro","doi":"10.1016/j.cpccr.2025.100372","DOIUrl":"10.1016/j.cpccr.2025.100372","url":null,"abstract":"<div><div>Benign male breast masses present a clinically challenging entity given the vast differential diagnosis and lack of representation in medical literature. Unlike the female breast that contains ducts and stroma, the male breast primarily consists of fatty subcutaneous tissue. Gynecomastia and other common masses such as lipomas in men are well researched, whereas literature on rare benign masses tend to be absent from conventional discussion. This paper presents the case of a granular cell tumor in a young male patient as a rare differential diagnosis when presented with a male breast mass. The work-up, imaging, and treatment for some ultra-rare benign masses that may be encountered will be discussed. This will aid in providing a starting point and framework for clinicians to broaden the differential diagnosis for men presenting with a benign mass in the breast.</div></div>","PeriodicalId":72741,"journal":{"name":"Current problems in cancer. Case reports","volume":"19 ","pages":"Article 100372"},"PeriodicalIF":0.2,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144472208","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
Unexpected discovery of hepatic cancer via 68Ga-PSMA PET/CT in the staging of prostate cancer 68Ga-PSMA PET/CT在前列腺癌分期中意外发现肝癌
IF 0.2
Current problems in cancer. Case reports Pub Date : 2025-06-01 DOI: 10.1016/j.cpccr.2025.100377
Radu Alexa , Jennifer Kranz , Marco Hoffmann , Alexandra Barabasch , Sophie Leypold , Felix M. Mottaghy , Matthias Saar
{"title":"Unexpected discovery of hepatic cancer via 68Ga-PSMA PET/CT in the staging of prostate cancer","authors":"Radu Alexa ,&nbsp;Jennifer Kranz ,&nbsp;Marco Hoffmann ,&nbsp;Alexandra Barabasch ,&nbsp;Sophie Leypold ,&nbsp;Felix M. Mottaghy ,&nbsp;Matthias Saar","doi":"10.1016/j.cpccr.2025.100377","DOIUrl":"10.1016/j.cpccr.2025.100377","url":null,"abstract":"<div><div>PSMA PET/CT (prostate-specific membrane antigen-based positron emission tomography) measures the overexpression of PSMA with the highest sensitivity in prostate cancer, offering a feasible pathway for detecting primary tumors, metastasis, and recurrences. Several cases reported a PSMA uptake in other solid tumors including also cholangiocarcinoma, broadening its potential utility. Thus, PSMA PET/CT's primary value lies in enhancing prostate cancer diagnostics, but it also aids in detecting other malignancies. Here, we present the case report of an 82-year-old man initially diagnosed with high-risk prostate cancer with unusual PSMA accumulation in the liver at PSMA PET/CT, later identified as a cholangiocarcinoma.</div></div>","PeriodicalId":72741,"journal":{"name":"Current problems in cancer. Case reports","volume":"18 ","pages":"Article 100377"},"PeriodicalIF":0.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144240740","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
Corrigendum to “Administration of trastuzumab deruxtecan in metastatic breast cancer patients with severe hepatic impairment” [Current Problems in Cancer: Case Reports 16 (2024) 100337] “转移性乳腺癌合并严重肝功能损害患者使用曲妥珠单抗德鲁西替康”的更正[癌症中的当前问题:病例报告16 (2024)100337]
IF 0.2
Current problems in cancer. Case reports Pub Date : 2025-06-01 DOI: 10.1016/j.cpccr.2025.100360
Laura Sun , Gaybrielle Moore , Annalise Labatut , Jane Meisel , Kevin Kalinsky , Kristina Byers
{"title":"Corrigendum to “Administration of trastuzumab deruxtecan in metastatic breast cancer patients with severe hepatic impairment” [Current Problems in Cancer: Case Reports 16 (2024) 100337]","authors":"Laura Sun ,&nbsp;Gaybrielle Moore ,&nbsp;Annalise Labatut ,&nbsp;Jane Meisel ,&nbsp;Kevin Kalinsky ,&nbsp;Kristina Byers","doi":"10.1016/j.cpccr.2025.100360","DOIUrl":"10.1016/j.cpccr.2025.100360","url":null,"abstract":"","PeriodicalId":72741,"journal":{"name":"Current problems in cancer. Case reports","volume":"18 ","pages":"Article 100360"},"PeriodicalIF":0.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144280169","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
Acute severe hyponatremia: A rare case after low-dose cyclophosphamide 急性严重低钠血症:低剂量环磷酰胺后一例罕见病例
IF 0.2
Current problems in cancer. Case reports Pub Date : 2025-06-01 DOI: 10.1016/j.cpccr.2025.100375
Abdullah Önür , Kübra Şahin
{"title":"Acute severe hyponatremia: A rare case after low-dose cyclophosphamide","authors":"Abdullah Önür ,&nbsp;Kübra Şahin","doi":"10.1016/j.cpccr.2025.100375","DOIUrl":"10.1016/j.cpccr.2025.100375","url":null,"abstract":"<div><h3>Background</h3><div>Cyclophosphamide is an alkylating agent widely used in the treatment of various malignancies and autoimmune diseases. Although hyponatremia is a known side effect, it is usually seen in high-dose regimens. Severe hyponatremia following low-dose cyclophosphamide administration is extremely rare and poses a significant clinical challenge due to its potential to lead to life-threatening complications.</div></div><div><h3>Case Report</h3><div>We report a 57-year-old woman with estrogen receptor positive, progesterone receptor positive, HER2 negative T2N1 stage breast cancer who received adjuvant chemotherapy with doxorubicin and cyclophosphamide (AC regimen). After the second cycle of standard low doses (cyclophosphamide 900 mg; 15 mg/kg), the patient presented with confusion and generalized seizures 24 h after the infusion. Laboratory investigations revealed severe hyponatremia (serum sodium 116 mEq/L). Comprehensive diagnostic evaluation excluded other possible etiologies and cyclophosphamide-induced hyponatremia was considered as the primary cause. The patient's neurologic status improved after correction of sodium levels. Subsequent cycles of chemotherapy, except cyclophosphamide, were well tolerated without recurrence of hyponatremia or neurologic symptoms.</div></div><div><h3>Conclusion</h3><div>This case highlights the potential for severe hyponatremia even after low-dose cyclophosphamide therapy. Clinicians should maintain a high index of suspicion for electrolyte disturbances in patients with neurologic symptoms after chemotherapy. Routine monitoring of serum electrolytes and early intervention are crucial to prevent severe complications.</div></div>","PeriodicalId":72741,"journal":{"name":"Current problems in cancer. Case reports","volume":"18 ","pages":"Article 100375"},"PeriodicalIF":0.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144205498","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
Effectiveness and safety of 3D lattice radiation therapy in the gluteal region to symptomatically control unresectable synovial sarcoma: A geriatric case report 臀区三维点阵放射治疗对症控制不可切除滑膜肉瘤的有效性和安全性:一个老年病例报告
IF 0.2
Current problems in cancer. Case reports Pub Date : 2025-06-01 DOI: 10.1016/j.cpccr.2025.100371
Syeda Sara Tajammul , Salim Chaib Rassou , Mahmoud Mohammad Alfishawy , Iqbal Al Amri , Sercan Yilmaz , Alaa Taysir Abdullah Al Hinai , Zahid Al Mandhari , Layth Mula-Hussain
{"title":"Effectiveness and safety of 3D lattice radiation therapy in the gluteal region to symptomatically control unresectable synovial sarcoma: A geriatric case report","authors":"Syeda Sara Tajammul ,&nbsp;Salim Chaib Rassou ,&nbsp;Mahmoud Mohammad Alfishawy ,&nbsp;Iqbal Al Amri ,&nbsp;Sercan Yilmaz ,&nbsp;Alaa Taysir Abdullah Al Hinai ,&nbsp;Zahid Al Mandhari ,&nbsp;Layth Mula-Hussain","doi":"10.1016/j.cpccr.2025.100371","DOIUrl":"10.1016/j.cpccr.2025.100371","url":null,"abstract":"<div><div>Lattice radiation therapy (LRT) represents an innovative approach in radiation oncology. Unlike conventional radiotherapy, LRT creates an inhomogeneous dose distribution within the tumor, with high-dose regions (vertices) and low-dose regions (valleys), enhancing targeted treatment while minimizing damage to surrounding healthy tissue. Synovial sarcoma is a rare and aggressive malignancy with a poor prognosis, particularly in elderly patients and those with unresectable disease. This case report highlights the use of LRT as a palliative option in a 91-year-old female presenting with a large, symptomatic synovial sarcoma of the left gluteal region, deemed unfit for surgery or systemic therapy. The patient underwent a two-phase radiotherapy approach: an initial single-fraction LRT dose of 12 Gy using the Valencia protocol, followed by conventional volumetric modulated arc therapy (VMAT) delivering 20 Gy in five fractions. The LRT plan incorporated seventeen lattice spheres within the gross tumor volume, achieving high conformity and respecting organ-at-risk constraints. The patient reported substantial pain relief and improved mobility post-treatment, with a follow-up MRI at three months showing a 22.5 % reduction in tumor size. No acute toxicities were noted. This case underscores the potential of LRT as a safe and effective palliative treatment modality for bulky, unresectable sarcomas, offering symptom relief and improved quality of life in patients ineligible for curative interventions. While existing data on the safety of LRT is well-established, and preliminary results regarding its efficacy are promising, the current level of evidence remains low. Therefore, further studies are essential to establish robust evidence supporting the efficacy of LRT.</div></div>","PeriodicalId":72741,"journal":{"name":"Current problems in cancer. Case reports","volume":"18 ","pages":"Article 100371"},"PeriodicalIF":0.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144177881","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
Long term disease control with low and infrequent doses of pembrolizumab for metastatic dMMR rectal adenocarcinoma – A case report 低剂量和罕见剂量派姆单抗治疗转移性dMMR直肠腺癌的长期疾病控制- 1例报告
IF 0.2
Current problems in cancer. Case reports Pub Date : 2025-06-01 DOI: 10.1016/j.cpccr.2025.100378
Yun Yi Ho , Po Lin Ooi , Gwo Fuang Ho
{"title":"Long term disease control with low and infrequent doses of pembrolizumab for metastatic dMMR rectal adenocarcinoma – A case report","authors":"Yun Yi Ho ,&nbsp;Po Lin Ooi ,&nbsp;Gwo Fuang Ho","doi":"10.1016/j.cpccr.2025.100378","DOIUrl":"10.1016/j.cpccr.2025.100378","url":null,"abstract":"<div><div>Pembrolizumab is a first-line treatment for metastatic colorectal cancer (mCRC) with microsatellite instability (MSI-H) or deficient in mismatch repair protein (dMMR). Based on the results of the Keynote 177 study, the standard dosing for pembrolizumab is 200 mg every 3 weeks, or 400 mg every 6 weeks. Due to the significant cost incurred, many patients are not able to afford this treatment, especially in a resource-constrained healthcare setting. Here, we reported the outcome of a patient with dMMR mCRC who was treated with first-line pembrolizumab at low and infrequent dosing. The patient received 2 cycles of pembrolizumab 3 weekly at the standard dose of 200 mg, followed by 2 cycles of 100 mg every 3 months, and then 100 mg every 6 months. He demonstrated significant improvement with the treatment, and remained in partial response 2 years into therapy. This case illustrates that infrequent and reduced dosage of pembrolizumab is a viable treatment option for some patients with dMMR mCRC, presenting to us a possible opportunity for more efficient resource utilisation. However, more research is required to help identify those patients who may benefit from such low-intensity regimens.</div></div>","PeriodicalId":72741,"journal":{"name":"Current problems in cancer. Case reports","volume":"18 ","pages":"Article 100378"},"PeriodicalIF":0.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144263770","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
From the immunotherapy case files 免疫治疗病例档案里的
IF 0.2
Current problems in cancer. Case reports Pub Date : 2025-06-01 DOI: 10.1016/j.cpccr.2025.100353
Ellen Zhang, Nam Q. Bui
{"title":"From the immunotherapy case files","authors":"Ellen Zhang,&nbsp;Nam Q. Bui","doi":"10.1016/j.cpccr.2025.100353","DOIUrl":"10.1016/j.cpccr.2025.100353","url":null,"abstract":"","PeriodicalId":72741,"journal":{"name":"Current problems in cancer. Case reports","volume":"18 ","pages":"Article 100353"},"PeriodicalIF":0.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144280168","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
Post-induction bone marrow uncovers mastocytosis in a case of acute myeloid leukemia-Case report 急性髓性白血病一例骨髓诱导后发现肥大细胞增多症
IF 0.2
Current problems in cancer. Case reports Pub Date : 2025-05-21 DOI: 10.1016/j.cpccr.2025.100373
Tharageswari Srinivasan , Siddarthan Manimuthu , Manu Jamwal , Nabhajit Mallik , Sreejesh Sreedharanunni , Narender Kumar , Prashant Sharma , Shano Naseem , Pankaj Malhotra , Man Updesh Singh Sachdeva
{"title":"Post-induction bone marrow uncovers mastocytosis in a case of acute myeloid leukemia-Case report","authors":"Tharageswari Srinivasan ,&nbsp;Siddarthan Manimuthu ,&nbsp;Manu Jamwal ,&nbsp;Nabhajit Mallik ,&nbsp;Sreejesh Sreedharanunni ,&nbsp;Narender Kumar ,&nbsp;Prashant Sharma ,&nbsp;Shano Naseem ,&nbsp;Pankaj Malhotra ,&nbsp;Man Updesh Singh Sachdeva","doi":"10.1016/j.cpccr.2025.100373","DOIUrl":"10.1016/j.cpccr.2025.100373","url":null,"abstract":"<div><div>Acute myeloid leukemia (AML) with the <em>RUNX1::RUNX1T1</em> fusion is typically associated with a favorable prognosis. However, when it occurs alongside systemic mastocytosis (SM), the outcome is usually adverse. This report describes a case involving a 41-year-old male diagnosed with AML harboring the <em>RUNX1::RUNX1T1</em> fusion, who was initially misdiagnosed due to the lack of a thorough bone marrow examination. Although molecular testing confirmed the <em>RUNX1::RUNX1T1</em> fusion, the associated mast cell component was overlooked, as the initial evaluation focused on peripheral blood. Follow-up bone marrow aspiration revealed an increased population of spindle-shaped mast cells, leading to a revised diagnosis of systemic mastocytosis with associated hematological neoplasm (SM-AHN) upon detection of a <em>C-KIT</em> D816Y mutation. This case emphasizes the necessity for comprehensive diagnostic evaluations, including bone marrow analysis and molecular testing for <em>KIT</em> mutations, to accurately identify concurrent neoplasms. While AML with <em>RUNX1::RUNX1T1 fusion</em> generally has a favorable prognosis, the presence of systemic mastocytosis and <em>KIT</em> mutations complicate the clinical landscape, requiring careful monitoring and potential modification of therapeutic strategies.</div></div>","PeriodicalId":72741,"journal":{"name":"Current problems in cancer. Case reports","volume":"18 ","pages":"Article 100373"},"PeriodicalIF":0.2,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168093","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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