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Scalp and Neck Metastasis From HER2-Positive Gastric Cancer: A Case Report and Literature Review. her2阳性胃癌头皮及颈部转移1例并文献复习。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2026-05-23 eCollection Date: 2026-01-01 DOI: 10.1155/crom/9995795
Ricardo Fernández-Ferreira, Jesus Montaño-Hernández, Rafael-Garza Cantú-Pedraza, Fernanda Delgado-Gutierrez, Renato-Adrian Flores-Vazquez, Mauricio-Lohengrin Durán-Aceves, Verónica Bautista-Piña, Rosa-María Vicuña-González, María-Del-Carmen Burguete-Bojalil, Giovana-Ivette De-Lucio-Chavero
{"title":"Scalp and Neck Metastasis From HER2-Positive Gastric Cancer: A Case Report and Literature Review.","authors":"Ricardo Fernández-Ferreira, Jesus Montaño-Hernández, Rafael-Garza Cantú-Pedraza, Fernanda Delgado-Gutierrez, Renato-Adrian Flores-Vazquez, Mauricio-Lohengrin Durán-Aceves, Verónica Bautista-Piña, Rosa-María Vicuña-González, María-Del-Carmen Burguete-Bojalil, Giovana-Ivette De-Lucio-Chavero","doi":"10.1155/crom/9995795","DOIUrl":"10.1155/crom/9995795","url":null,"abstract":"<p><strong>Background: </strong>Cutaneous metastasis of gastric cancer is a rare manifestation (2.6%) of advanced gastrointestinal cancers and occurs in less than 1% of upper GI tract malignancies. The nodular type is the most common type. Tissue diagnosis and anatomic localization of the primary tumor are best obtained by upper gastrointestinal endoscopy. However, when the patient presents with dermatological and scalp lesions, the procedure is to take a targeted biopsy of said lesions.</p><p><strong>Case summary: </strong>A 60-year-old female with advanced disease (Stage IV HER2-positive gastric cancer) was diagnosed due to skin metastases: erythematous alopecic skin lesions on the central scalp, as well as a raised, erythematous, indurated, nontender, irregular 6 × 8 cm lesion on the cervicodorsal region. Treatment with capecitabine + oxaliplatin + trastuzumab every 3 weeks was initiated. By the sixth cycle, the scalp lesion had resolved completely, and the cervical lesion had reduced to 3 × 4 cm. After 1 year of treatment, the lesions continued to show a favorable response.</p><p><strong>Conclusions: </strong>To the best of our knowledge, this is the second reported case of cutaneous metastases from HER2-positive gastric cancer. Fewer than 20 cases involving metastases to the scalp and neck region have been reported in the English-language literature.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2026 ","pages":"9995795"},"PeriodicalIF":0.6,"publicationDate":"2026-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197652/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148013951","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
Paraneoplastic Vasculitis in a Patient With Breast Cancer at an Unusual Age: A Case Report. 异常年龄乳腺癌患者的副肿瘤血管炎一例报告。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2026-05-22 eCollection Date: 2026-01-01 DOI: 10.1155/crom/6699329
Angélica Mandujano, Melissa Golubov, Víctor Gutiérrez
{"title":"Paraneoplastic Vasculitis in a Patient With Breast Cancer at an Unusual Age: A Case Report.","authors":"Angélica Mandujano, Melissa Golubov, Víctor Gutiérrez","doi":"10.1155/crom/6699329","DOIUrl":"10.1155/crom/6699329","url":null,"abstract":"<p><p>We report the case of an 87-year-old woman whose initial presentation was palpable purpura. Henoch-Schönlein purpura was initially diagnosed, for which she received intravenous methylprednisolone and epinastine, resulting in complete remission of the skin lesions. After discontinuation of corticosteroid therapy, she experienced multiple relapses over the ensuing months with an incomplete response to medical treatment. Metastatic breast cancer was diagnosed 7 months later, which retrospectively suggested a paraneoplastic etiology for the vasculitis. Although the association between cutaneous vasculitis and malignancy-particularly hematologic cancers-is well documented, the underlying mechanisms remain poorly understood. The link with breast cancer is rare, though sporadically reported. Vasculitis in this context may occur before, during, or after cancer diagnosis or treatment. Notably, only two cases of breast cancer-associated vasculitis have been reported in patients aged 80 or older. Paraneoplastic vasculitis typically resolves with treatment of the underlying malignancy. However, given the presence of metastatic disease in this patient, immunosuppressive therapy with azathioprine was needed, resulting in complete resolution of lesions.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2026 ","pages":"6699329"},"PeriodicalIF":0.6,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13195797/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148013972","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
Recurrent Steroid-Responsive Exophthalmos as a Paraneoplastic Manifestation of Esophageal Adenocarcinoma. 复发性类固醇反应性突出是食管癌的副肿瘤表现。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2026-05-06 eCollection Date: 2026-01-01 DOI: 10.1155/crom/5230454
Yara E Tovar, Ahmed G Elsayed
{"title":"Recurrent Steroid-Responsive Exophthalmos as a Paraneoplastic Manifestation of Esophageal Adenocarcinoma.","authors":"Yara E Tovar, Ahmed G Elsayed","doi":"10.1155/crom/5230454","DOIUrl":"10.1155/crom/5230454","url":null,"abstract":"<p><p>Exophthalmos is most often associated with autoimmune thyroid disease, particularly Graves disease. Paraneoplastic syndromes rarely manifest as orbital inflammation, and only a few cases have been described in association with solid tumors. We present a case of a 67-year-old male diagnosed with esophageal cancer. Shortly after diagnosis, he developed rapidly progressive bilateral exophthalmos with ophthalmoplegia. Thyroid function and thyroid-stimulating immunoglobulin were normal, and MRI orbits demonstrated enlargement of extraocular muscles with apical crowding, consistent with inflammatory orbitopathy. Given the absence of thyroid disease, a paraneoplastic process was suspected. The patient was treated with prednisone 60 mg daily, tapered over 5 weeks, resulting in complete resolution of symptoms within 2 weeks. He underwent chemoradiation with interval improvement in the primary tumor. Several months later, disease progression occurred with new mediastinal and iliac lymphadenopathy, coinciding with recurrence of exophthalmos. A second course of corticosteroids again resulted in full remission of the orbital findings. This case highlights paraneoplastic exophthalmos as a rare manifestation of esophageal adenocarcinoma. The temporal association between tumor activity and orbital inflammation, coupled with steroid responsiveness, supports an immune-mediated mechanism. Recognition of this phenomenon is important to avoid misdiagnosis and to guide prompt corticosteroid therapy and oncologic management. In summary, exophthalmos is a very rare paraneoplastic finding. Workup needs to include brain imaging to exclude direct metastasis to the retro-orbital space. Immediate treatment for neoplastic disease is likely to resolve symptoms. High-dose steroids are effective in relieving symptoms.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2026 ","pages":"5230454"},"PeriodicalIF":0.6,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13147345/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147834205","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
Fatal Emphysematous Tonsillopharyngitis With Laryngocele Involvement Revealing Acute Myeloid Leukemia M5 Subtype: A Previously Undescribed Presentation. 致死性肺气肿性扁桃体咽炎伴喉囊肿累及显示急性髓系白血病M5亚型:以前未描述的表现。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2026-05-05 eCollection Date: 2026-01-01 DOI: 10.1155/crom/7278748
Somaya Al Kiswani, Mohammed Abduljabbar Abed, Hossam Salameh, Muna Shahwan, Omar Sawafta, Suhaib Eid, Fatena A H Ajlouni, Abdullah Nofal
{"title":"Fatal Emphysematous Tonsillopharyngitis With Laryngocele Involvement Revealing Acute Myeloid Leukemia M5 Subtype: A Previously Undescribed Presentation.","authors":"Somaya Al Kiswani, Mohammed Abduljabbar Abed, Hossam Salameh, Muna Shahwan, Omar Sawafta, Suhaib Eid, Fatena A H Ajlouni, Abdullah Nofal","doi":"10.1155/crom/7278748","DOIUrl":"10.1155/crom/7278748","url":null,"abstract":"<p><p>Emphysematous infections in the tonsillopharyngeal area are exceptionally unique; this type of infection occurs in immunocompromised patients. Extramedullary disease can occur in acute myeloid leukemia (AML), but oropharyngeal involvement is rare and diagnostically challenging. Furthermore, a laryngocele is defined as an abnormal dilation of the laryngeal saccule that is filled with air and fluid if infected. Although infections and cancers rarely extend to the laryngocele, they can be found in patients with laryngeal or hypopharyngeal cancer. We describe a 65-year-old male presenting with progressive sore throat, halitosis, and airway compromise. Contrast-enhanced computed tomography demonstrated bilateral emphysematous tonsillitis with parapharyngeal extension, severe supraglottic narrowing, and rare secondary involvement of a laryngocele. Histopathology demonstrated diffuse infiltrates of atypical mononuclear cells with a high nuclear-to-cytoplasmic ratio, irregular chromatin, and prominent nucleoli. Immunohistochemistry showed positivity for CD45, CD33, CD68, and MPO, confirming extramedullary AML-M5 infiltration of the tonsils. This case illustrates a rare radiologic and oncologic occurrence and the necessity for developing a high index of suspicion for identifying atypical sources of gas-forming infections in the head-and-neck area that may result from a malignancy; consequently, prompt diagnosis and intervention should take place.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2026 ","pages":"7278748"},"PeriodicalIF":0.6,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13140299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147834180","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
Idiopathic Bell's Palsy in a Patient With Metastatic Lung Adenocarcinoma Receiving Nab-Paclitaxel and Pregabalin: A Rare Clinical Observation. 转移性肺腺癌患者的特发性贝尔氏麻痹接受nab -紫杉醇和普瑞巴林:罕见的临床观察。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2026-05-04 eCollection Date: 2026-01-01 DOI: 10.1155/crom/4818820
Vaishanavi Bamane, Shrutika Thakre, Aditya Dhanawat, Ganesh Chepuri, Amit Joshi, Vikram Gota, Manjunath Nookala Krishnamurthy
{"title":"Idiopathic Bell's Palsy in a Patient With Metastatic Lung Adenocarcinoma Receiving Nab-Paclitaxel and Pregabalin: A Rare Clinical Observation.","authors":"Vaishanavi Bamane, Shrutika Thakre, Aditya Dhanawat, Ganesh Chepuri, Amit Joshi, Vikram Gota, Manjunath Nookala Krishnamurthy","doi":"10.1155/crom/4818820","DOIUrl":"10.1155/crom/4818820","url":null,"abstract":"<p><strong>Background: </strong>Chemotherapy drugs are known to cause peripheral neuropathy of varying severity. However, Bell's palsy, which is an acute lower motor neuron facial nerve palsy, is rarely observed in oncology patients receiving chemotherapy.</p><p><strong>Case presentation: </strong>We report a case of Bell's palsy in a 74-year-old male metastatic lung adenocarcinoma patient while on treatment with nab-paclitaxel and pregabalin. Temporal association, diagnostic workup, and management are discussed in this case report to highlight the importance of differentiating neurological adverse effects in cancer therapy.</p><p><strong>Conclusion: </strong>The most likely causative factor remained nab-paclitaxel-induced Bell's palsy in our patient. However, viral reactivation due to immunosuppression resulting from drug toxicity cannot be completely ruled out.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2026 ","pages":"4818820"},"PeriodicalIF":0.6,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13136843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147834225","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
The Use of Fam-Trastuzumab Deruxtecan-nxki in Treating ERBB2 Amplified Small Cell Lung Cancer Transformed From Non-Small Cell Lung Cancer: A Case Report. fam -曲妥珠单抗Deruxtecan-nxki治疗由非小细胞肺癌转化而来的ERBB2扩增小细胞肺癌1例
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2026-05-03 eCollection Date: 2026-01-01 DOI: 10.1155/crom/8836862
Alan Schumann, Charisse Brown-Moran, Chung-Ting J Kou
{"title":"The Use of Fam-Trastuzumab Deruxtecan-nxki in Treating ERBB2 Amplified Small Cell Lung Cancer Transformed From Non-Small Cell Lung Cancer: A Case Report.","authors":"Alan Schumann, Charisse Brown-Moran, Chung-Ting J Kou","doi":"10.1155/crom/8836862","DOIUrl":"10.1155/crom/8836862","url":null,"abstract":"<p><p>Histological transformation from non-small cell lung cancer (NSCLC) to small cell lung cancer (SCLC) is a recognized mechanism of resistance to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs), leading to poor prognosis and significant therapeutic challenges. We present a case of a 66-year-old female with de novo metastatic NSCLC harboring an EGFR mutation, RET rearrangement, and ERBB2 amplification, who experienced transformation to SCLC while on osimertinib. Subsequently, she exhibited primary refractory disease to both first-line platinum doublet with immunotherapy and second-line lurbinectedin. Given her transformed disease and continued ERBB2 amplification on next-generation sequencing (NGS), the patient was initiated on trastuzumab deruxtecan (T-DXd) at a dosage of 5.4 mg/kg intravenously every 3 weeks. The patient had minimal side effects and obtained a partial response with a progression-free survival (PFS) of 13.1 months, better than historically poor prognosis seen in transformed SCLC. This case underscores the potential role of human epidermal growth factor receptor 2 (HER-2) directed therapies, such as T-DXd, in transformed SCLC.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2026 ","pages":"8836862"},"PeriodicalIF":0.6,"publicationDate":"2026-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13136587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147834247","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
Chylous Ascites: A Rare Initial Presentation of High-Grade Follicular Lymphoma. 乳糜腹水:一种罕见的高级别滤泡性淋巴瘤的初始表现。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2026-05-03 eCollection Date: 2026-01-01 DOI: 10.1155/crom/5559043
Rama Nada, Ani Gvajaia, Ali Raza, Mohammed Raji
{"title":"Chylous Ascites: A Rare Initial Presentation of High-Grade Follicular Lymphoma.","authors":"Rama Nada, Ani Gvajaia, Ali Raza, Mohammed Raji","doi":"10.1155/crom/5559043","DOIUrl":"10.1155/crom/5559043","url":null,"abstract":"<p><strong>Background: </strong>Chylous ascites is an uncommon condition characterized by the accumulation of triglyceride-rich, milky fluid in the peritoneal cavity due to lymphatic disruption or obstruction. Although lymphoma is a leading cause of malignant chylous ascites, its occurrence as an initial presentation remains rare.</p><p><strong>Case presentation: </strong>A 69-year-old woman presented with a three-month history of postprandial abdominal pain, weight loss, anorexia, and dyspnea. Imaging revealed extensive abdominal and pelvic lymphadenopathy with bilateral pleural effusions. Diagnostic laparoscopy demonstrated milky peritoneal fluid, and fluid analysis confirmed chylous ascites (triglycerides, 1361 mg/dL). Lymph node biopsy demonstrated high-grade B-cell lymphoma with morphological features favoring follicular lymphoma. Immunohistochemistry revealed a markedly elevated Ki-67 proliferative index (> 90%), and genomic profiling identified pathogenic <i>EZH2</i> and <i>TET2</i> mutations with a high tumor mutational burden. According to the fifth edition of the WHO Classification of Haematolymphoid Tumours (2022), these findings are most consistent with follicular lymphoma, a mature B-cell neoplasm with high-grade features. Given the high-output drainage and recent surgery, cytotoxic chemotherapy was deferred, and rituximab monotherapy was initiated. Rapid clinical improvement and decreased drain output allowed safe transition to standard R-CHOP therapy, achieving a complete metabolic response (Deauville score 2) after six cycles.</p><p><strong>Conclusions: </strong>This case highlights chylous ascites as a rare but important presenting feature of lymphoma. Its recognition should prompt early histopathologic evaluation and multidisciplinary management. In selected postoperative or frail patients, rituximab monotherapy can serve as an effective bridge to full chemotherapy, facilitating recovery and improving outcomes. Early diagnosis and targeted treatment remain essential to prevent complications from lymphatic loss and to optimize prognosis in lymphoma-associated chylous ascites.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2026 ","pages":"5559043"},"PeriodicalIF":0.6,"publicationDate":"2026-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13136516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147834184","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
Mitigating Severe Ribociclib-Hepatotoxicity With Corticosteroids. 用皮质类固醇减轻严重的核糖环-肝毒性。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2026-04-24 eCollection Date: 2026-01-01 DOI: 10.1155/crom/4222126
Julie Williamson, Maria Pletneva, Rebecca G Kim, Roma Bhatia
{"title":"Mitigating Severe Ribociclib-Hepatotoxicity With Corticosteroids.","authors":"Julie Williamson, Maria Pletneva, Rebecca G Kim, Roma Bhatia","doi":"10.1155/crom/4222126","DOIUrl":"10.1155/crom/4222126","url":null,"abstract":"<p><p>Ribociclib adds progression-free survival and overall survival benefit in combination with endocrine therapy for first-line treatment of advanced HR+ HER2- breast cancer; however, it comes with a risk of hepatotoxicity. There is guidance for monitoring liver function and holding the medication if hepatotoxicity arises. However, there is minimal guidance for management if withholding the medication alone is insufficient. We present a case of a woman with de novo metastatic HR+ HER2- breast cancer who developed grade 2 AST and ALT elevation after two cycles of ribociclib and anastrozole, which progressed over several weeks to Grade 4 hepatotoxicity despite holding the medication. Extensive evaluation revealed drug-induced liver injury from ribociclib as the cause. Ultimately, a long course of corticosteroids was initiated with remarkable response and resolution of transaminitis. An empiric trial of corticosteroids should be considered for patients with severe ongoing hepatotoxicity from CDK4/6 inhibitors despite cessation of the drug.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2026 ","pages":"4222126"},"PeriodicalIF":0.6,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13107949/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763549","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
Multilocus Inherited Neoplasia Alleles Syndrome in a Patient With BRCA2-Associated Breast Cancer and MLH1-Related Lynch Syndrome. brca2相关乳腺癌和mlh1相关Lynch综合征患者的多位点遗传性肿瘤等位基因综合征
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2026-04-19 eCollection Date: 2026-01-01 DOI: 10.1155/crom/3353129
Vaneza Avila-Rodriguez, Alejandro Ruiz-Patiño, Carlos Bonilla-Gonzalez, María Eugenia Manrique Acevedo, Patricia Lopez, Magda Jimena Vargas Diaz, Diego Rubio, María Alejandra Bravo Garzon, Sandra Franco, William Mantilla
{"title":"Multilocus Inherited Neoplasia Alleles Syndrome in a Patient With BRCA2-Associated Breast Cancer and MLH1-Related Lynch Syndrome.","authors":"Vaneza Avila-Rodriguez, Alejandro Ruiz-Patiño, Carlos Bonilla-Gonzalez, María Eugenia Manrique Acevedo, Patricia Lopez, Magda Jimena Vargas Diaz, Diego Rubio, María Alejandra Bravo Garzon, Sandra Franco, William Mantilla","doi":"10.1155/crom/3353129","DOIUrl":"10.1155/crom/3353129","url":null,"abstract":"<p><p>Multilocus inherited neoplasia alleles syndrome (MINAS) is a rare but increasingly recognized entity characterized by germline pathogenic variants in multiple cancer susceptibility genes, leading to overlapping hereditary cancer syndromes. The growing use of next-generation sequencing (NGS) and comprehensive genetic testing has increased MINAS detection, with an estimated 1.37% prevalence among hereditary cancer patients. Genes commonly implicated include BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, APC, TP53, PTEN, and STK11, conferring a higher risk of multiple primary malignancies. We describe a case of a postmenopausal woman initially diagnosed with Stage IIIB luminal A breast carcinoma, who developed contralateral breast recurrence with supraclavicular and pulmonary metastases, responding completely to ribociclib and letrozole. Given her early-onset breast cancer, genetic testing of her hereditary cancer risk revealed BRCA2 and MLH1 germline variants, confirming MINAS syndrome. Subsequent evaluation identified colonic adenocarcinoma (Stage IIIB, MLH1/PMS2 deficiency), leading to total colectomy, hysterectomy, and bilateral salpingo-oophorectomy. Surveillance was proposed for colon cancer, while ribociclib and letrozole were continued for breast cancer. This case highlights the clinical complexity of MINAS syndrome. The comprehensive genomic profiling is critical for guiding targeted therapy, immunotherapy, and surgical decision-making, optimizing outcomes in this high-risk population.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2026 ","pages":"3353129"},"PeriodicalIF":0.6,"publicationDate":"2026-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13092799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763530","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
Rescue Mastectomy in a Patient With Locally Advanced Triple-Negative Breast Cancer and Severe Biochemical Hypothyroidism: A Multidisciplinary Ethical and Surgical Dilemma. 局部晚期三阴性乳腺癌合并严重生化甲状腺功能减退的抢救性乳房切除术:一个多学科的伦理和外科困境。
IF 0.6
Case Reports in Oncological Medicine Pub Date : 2026-04-19 eCollection Date: 2026-01-01 DOI: 10.1155/crom/3822467
Nelson Buelvas
{"title":"Rescue Mastectomy in a Patient With Locally Advanced Triple-Negative Breast Cancer and Severe Biochemical Hypothyroidism: A Multidisciplinary Ethical and Surgical Dilemma.","authors":"Nelson Buelvas","doi":"10.1155/crom/3822467","DOIUrl":"10.1155/crom/3822467","url":null,"abstract":"<p><p>Severe hypothyroidism is traditionally considered a contraindication to elective major surgery due to the risk of perioperative metabolic decompensation and myxedema coma. However, in oncologic settings, delaying surgery may result in irreversible loss of resectability and adverse outcomes. Evidence guiding surgical decision-making in patients with advanced cancer and severe endocrine dysfunction remains limited. We report the case of a patient with triple-negative breast cancer initially staged as IIA who discontinued neoadjuvant chemotherapy and subsequently developed rapid locoregional progression to stage IIIB. Despite reinduction with chemotherapy and immunotherapy, the tumor remained refractory, and rescue mastectomy was indicated as the only remaining oncologic option. Preoperative assessment unexpectedly revealed severe biochemical hypothyroidism with markedly elevated thyroid-stimulating hormone levels and reduced free thyroxine, raising concern for perioperative metabolic decompensation and myxedema coma. Given the risk of permanent loss of operability associated with surgical delay and the prolonged time required to achieve full biochemical euthyroidism, a multidisciplinary decision was made to proceed with surgery after partial endocrine optimization using oral levothyroxine. Following extensive informed consent and anesthetic planning, rescue mastectomy with wide elliptical skin excision was performed without intraoperative or postoperative complications. The patient had an uneventful recovery, with negative surgical margins and no need for postoperative ventilatory support. This case highlights the challenges of managing severe biochemical hypothyroidism in time-sensitive oncologic surgery. When surgery represents the only viable therapeutic option, individualized multidisciplinary decision-making and shared risk assessment may justify proceeding despite incomplete metabolic optimization. Rescue surgery may be considered in carefully selected high-risk patients when the oncologic benefit outweighs the potential perioperative risk.</p>","PeriodicalId":9636,"journal":{"name":"Case Reports in Oncological Medicine","volume":"2026 ","pages":"3822467"},"PeriodicalIF":0.6,"publicationDate":"2026-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13092926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763468","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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