{"title":"CIC-DUX4 Rearranged Sarcoma Presenting in the Skin: Case Report.","authors":"Ryo Amagai, Taku Fujimura, Akira Hashimoto, Shinichirou Yoshida, Yoshihide Asano","doi":"10.1159/000539501","DOIUrl":"10.1159/000539501","url":null,"abstract":"<p><strong>Introduction: </strong>Capicua transcriptional repressor (CIC)-DUX4 rearranged sarcoma is a subtype of CIC-rearranged sarcomas composed of undifferentiated Wilms' tumor 1 (WT1)<sup>+</sup>, CD99<sup>+</sup> round cells with recurrent CIC gene rearrangement. The diagnosis of CIC-rearranged sarcoma remains challenging, and the prognosis of CIC-rearranged sarcomas is poor.</p><p><strong>Case presentation: </strong>In this report, we described a case of CIC-DUX4 rearranged sarcoma presenting in the skin, expressing WT1 and CD99 in a dot-like pattern. In addition, the assessment of genomic alterations using genome panel testing was useful to confirm the accurate diagnosis.</p><p><strong>Conclusion: </strong>Our present case suggests that widespread use of genomic panel testing in the future may lead to early treatment and improve the prognosis of CIC-rearranged sarcomas.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"17 1","pages":"681-685"},"PeriodicalIF":0.7,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249449/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626051","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}
Qian Li, Mei Liu, Yunxia Liu, Feng Shi, Shan Yuan, Guojie Di, Haobin Jin, Yaru Shi, Wen Zhang, Zhe Yang
{"title":"Lethal Immune-Related Pneumonitis after Durvalumab Therapy for Small Cell Lung Cancer: A First Case in China.","authors":"Qian Li, Mei Liu, Yunxia Liu, Feng Shi, Shan Yuan, Guojie Di, Haobin Jin, Yaru Shi, Wen Zhang, Zhe Yang","doi":"10.1159/000538429","DOIUrl":"10.1159/000538429","url":null,"abstract":"<p><strong>Introduction: </strong>Although programmed death ligand 1 (PD-L1) inhibitor plus chemotherapy regimen is a promising strategy for malignant tumors, it can induce significant immune-related adverse events, such as immune-related pneumonitis. Here, we report the first case of lethal immune-related pneumonitis in an Asian patient receiving anti-PD-L1 treatment.</p><p><strong>Case presentation: </strong>A 68-year-old man was diagnosed with small cell lung cancer and interstitial pneumonia. After his pulmonary infection was relieved by comprehensive treatment, the patient received first-line treatment with durvalumab plus etoposide and carboplatin. Two weeks after starting durvalumab treatment, the patient had chest pain and shortness of breath. He was diagnosed with immune-induced pneumonia and treated with methylprednisolone, cefoperazone, and sulbactam, followed by oxygen and pirfenidone. Oxygen partial pressure decreased to 58 mm Hg within next the 4 days and laboratory assessment suggested cytokine storm. The patient underwent 2 plasma exchanges, one double filtration plasmapheresis and oxygen saturation decreased continuously. The patient died 1 month after durvalumab treatment.</p><p><strong>Conclusion: </strong>Immune-related pneumonitis induced by PD-L1 inhibitors is rare but life-threatening. Infection should be ruled out before starting immunotherapy.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"17 1","pages":"673-680"},"PeriodicalIF":0.7,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626057","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}
Farah Aliyah Mohd Nasri, Nemer Osman, Shane O'Sullivan
{"title":"Carcinoid Heart Disease and a Complicated Course of Progressive Gastroenteropancreatic Neuroendocrine Neoplasia: A Case Report.","authors":"Farah Aliyah Mohd Nasri, Nemer Osman, Shane O'Sullivan","doi":"10.1159/000539257","DOIUrl":"10.1159/000539257","url":null,"abstract":"<p><strong>Introduction: </strong>Gastroenteropancreatic neuroendocrine tumours (GEP-NETs) are a relatively rare, heterogenous group of malignancies originating from secretory cells of the neuroendocrine system. Carcinoid syndrome is a complication of neuroendocrine tumours, characterized by a triad of flushing, bronchospasm, and diarrhoea. This is due to the release of serotonin and other vasoactive substances by the tumour. Elevated levels of serotonin can also cause fibrotic changes in the structures of the heart, which can lead to cardiac complications termed carcinoid heart disease. We report the case of a 64-year-old man diagnosed with carcinoid heart disease 19 years after his initial diagnosis of grade 2 GEP-NET with liver metastases.</p><p><strong>Case presentation: </strong>The patient presented with symptoms of shortness of breath, lower limb swelling, abdominal swelling, and chest pain. He was on treatment with subcutaneous lanreotide 120 mg twice weekly prior to admission. An echocardiogram showed moderate tricuspid regurgitation and mitral regurgitation but preserved left ventricular systolic function, consistent with right heart failure. A CT pulmonary angiogram showed a small volume left lingula pulmonary embolism with bilateral pleural effusions and stable pericardial effusion with evidence of right ventricular strain. The patient was started on IV furosemide 40 mg twice daily, SC octreotide 100 μg three times daily, and therapeutic tinzaparin. The patient was discharged following successful diuresis.</p><p><strong>Conclusion: </strong>This case report highlights the importance of regular echocardiogram and cardiovascular checkups in patients with carcinoid tumours and liver metastases. A multidisciplinary approach involving medical oncologists, cardiothoracic surgeons, and cardiologists is vital in ensuring early treatment and preventing late-stage complications of carcinoid heart disease.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"17 1","pages":"658-665"},"PeriodicalIF":0.7,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626116","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":"Characteristics of Epithelioid Trophoblastic Tumor: Endoscopic and Magnetic Resonance Imaging Findings.","authors":"Daiki Idegami, Tsukuru Amano, Hiroko Torii, Shunichiro Tsuji, Mamoru Urabe, Takashi Murakami","doi":"10.1159/000539428","DOIUrl":"10.1159/000539428","url":null,"abstract":"<p><strong>Introduction: </strong>Epithelioid endothelial tumor (ETT) is an extremely rare tumor that typically occurs in women of reproductive age. The diagnosis tends to be delayed because it often necessitates a total hysterectomy. Therefore, it is important to understand ETT macroscopic and imaging findings. Here, we report a case of ETT with detailed macroscopic and imaging findings.</p><p><strong>Case presentation: </strong>A 39-year-old woman with positive pregnancy test results was admitted to a nearby hospital. No gestational sac was found in the uterus, and magnetic resonance imaging (MRI) revealed a cystic mass of approximately 7 cm that extended continuously from the anterior wall of the lower uterine segment into the pelvic cavity. She underwent laparoscopic and hysteroscopic surgeries for a ruptured cervical pregnancy. Pathology of the specimens obtained from this surgery did not allow for the diagnosis of ETT. Two months after the surgery, as the serum human chorionic gonadotropin β subunit (β-HCG) level did not decrease, she was diagnosed with low-grade gestational trophoblastic neoplasia, leading to the administration of chemotherapy. After three regimens of chemotherapy over 9 months, her β-HCG level decreased but did not reach normal levels. Ultimately, a total hysterectomy was performed. The pathological diagnosis was mixed ETT and choriocarcinoma. A literature review revealed several cases similar to ours.</p><p><strong>Conclusion: </strong>ETT in the lower uterus often perforates the myometrium and forms cystic lesions in the retroperitoneal space or subserosa. The MRI and laparoscopic/hysteroscopic findings in this case may have contributed to the early diagnosis of ETT.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"17 1","pages":"666-672"},"PeriodicalIF":0.7,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626050","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":"Hearing Loss in a Patient with Waldenstrom Macroglobulinemia Receiving Bortezomib.","authors":"Jack Fitzsimons, Kathleen Phelan, Asha Dhanarajan","doi":"10.1159/000539453","DOIUrl":"10.1159/000539453","url":null,"abstract":"<p><strong>Introduction: </strong>We present a case report of hearing loss in a patient with Waldenstrom macroglobulinemia (WM) receiving treatment with bortezomib.</p><p><strong>Case presentation: </strong>Our patient developed sudden bilateral sensorineural hearing loss after receiving three doses of bortezomib. His hearing loss was irreversible and resulted in a cochlear implant.</p><p><strong>Conclusion: </strong>Hearing loss secondary to bortezomib is a known, but very rare, side effect. Hearing loss secondary to WM is also rare and has been described in case reports.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"17 1","pages":"653-657"},"PeriodicalIF":0.7,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249454/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626053","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":"The Importance of Radiation Planning Guidelines in Spinal Stereotactic Body Radiotherapy.","authors":"Ory Haisraely, Marcia L Jaffe, Yaacov Lawrence","doi":"10.1159/000538770","DOIUrl":"10.1159/000538770","url":null,"abstract":"<p><strong>Introduction: </strong>Stereotactic body radiotherapy (SBRT) is a well-established treatment for spinal metastases. Official guidelines for radiation planning were published and revised by several groups. Here, we present real-world data about the importance of adhering to those guidelines.</p><p><strong>Case report: </strong>A 42-year-old metastatic colon cancer patient presented with oligometastatic disease to L3 vertebra and underwent SBRT treatment. Due to lack of adhering to official guidelines both in dose regiment and in volume definition, he progressed locally and required re-treatment.</p><p><strong>Conclusions: </strong>SBRT is a well-known established choice for oligometastatic spinal lesions. Thorough evaluation of imaging and adherence to clinical guidelines are crucial for achieving a high local control rate and reducing the likelihood of re-irradiation and associated complications.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"17 1","pages":"646-652"},"PeriodicalIF":0.7,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579049","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":"Disseminated Carcinomatosis of the Bone Marrow from Castration-Resistant Prostate Cancer Revealed by Choline Positron Emission Tomography-Computed Tomography.","authors":"Kazuhiro Kitajima, Shingo Yamamoto, Akihiro Kanematsu, Masato Tomono, Sayuri Nishimoto, Reona Wada, Miyu Hirayama, Jyunpei Kitamoto, Kiyoshi Takagaki, Norihiro Kuroda, Takako Kihara, Koichiro Yamakado","doi":"10.1159/000539333","DOIUrl":"10.1159/000539333","url":null,"abstract":"<p><strong>Introduction: </strong>Disseminated carcinomatosis of the bone marrow is caused by cancer metastasis to the bone marrow and is the diagnosis is very difficult by imaging.</p><p><strong>Case presentation: </strong>We report a 75-year-old male with disseminated carcinomatosis of the bone marrow from castration-resistant prostate cancer revealed by <sup>11</sup>C-choline positron emission tomography-computed tomography (PET/CT). Although he already received radiotherapy to the prostate, combined androgen blockade, enzalutamide and apalutamide, and external beam radiotherapy for the pelvic bone metastases, serum prostate-specific antigen (PSA) value rapidly increased from 32 ng/mL to 104 ng/mL in recent 1 month. Bone scintigraphy showed almost no abnormal uptake in the whole body, whereas <sup>11</sup>C-choline PET/CT showed diffuse bone marrow <sup>11</sup>C-choline uptake. The disseminated carcinomatosis of the bone marrow was diagnosed from the discordant findings between bone scintigraphy and <sup>11</sup>C-choline PET/CT examinations and confirmed pathologically by iliac marrow biopsy pathologically. Although docetaxel therapy was started, PSA value continued rising and he died after 4 months of the diagnosis.</p><p><strong>Conclusion: </strong>The discordant findings of choline PET/CT and bone scintigraphy can diagnose disseminated carcinomatosis of the bone marrow from prostate cancer.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"17 1","pages":"640-645"},"PeriodicalIF":0.7,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579047","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":"Long-Term Survival in a Patient with Metastatic Colorectal Cancer Treated with Trifluridine/Tipiracil as Late-Line Chemotherapy: A Case Report.","authors":"Bülent Karabulut, Burcu Çakar","doi":"10.1159/000535202","DOIUrl":"10.1159/000535202","url":null,"abstract":"<p><strong>Introduction: </strong>Although long-term survival in patients with metastatic colorectal cancer (mCRC) is limited, treatments for third-line and later treatment are now recommended. We describe a patient who achieved long-term survival when they received third-line treatment with trifluridine/tipiracil (FTD/TPI).</p><p><strong>Case presentation: </strong>The woman who was 52 years old at diagnosis of adenocarcinoma of the right colon (T3/N0/M1) with metastases to the lung, liver, ovary, and other soft tissues received first-line fluoropyrimidine-based chemotherapy (FOLFOX/FOLFIRI plus bevacizumab) intermittently for approximately 8.5 years with generally stable disease, and second-line FOLFIRI plus radiotherapy. After progression on second-line therapy, the patient initiated treatment with FTD/TPI 35 mg/m<sup>2</sup> twice daily on days 1-5 and 8-12 of each 28-day cycle. She received a total of 38 cycles of FTD/TPI over a period of 34 months achieving a partial response, maintained performance status, and improved quality of life. Neutropenia was successfully managed with FTD/TPI dose delays or reductions.</p><p><strong>Conclusion: </strong>This heavily pre-treated patient with mCRC demonstrated impressive long-term survival and maintenance of good quality of life with FTD/TPI treatment.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"17 1","pages":"630-639"},"PeriodicalIF":0.7,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579048","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}
Peter Horwich, Shanmugappiriya Sivarajah, David Neskey, Joshua Hornig
{"title":"Applications of Synthetic Hybrid-Scale Fiber Matrix in Head and Neck Reconstruction: A Case Series.","authors":"Peter Horwich, Shanmugappiriya Sivarajah, David Neskey, Joshua Hornig","doi":"10.1159/000539200","DOIUrl":"10.1159/000539200","url":null,"abstract":"<p><strong>Introduction: </strong>Patients with head and neck cancer often necessitate complex reconstructions, considering both functional and esthetic concerns. Reconstructions are further complicated by previous radiation therapy and patient co-morbidities, which impair wound healing. A recently introduced synthetic hybrid-scale fiber matrix has been shown to provide durable wound coverage and promote tissue healing as an alternative to traditional biologic allogenic and xenogenic skin substitutes.</p><p><strong>Case presentation: </strong>Thirteen patients were treated at a single academic hospital between December 1, 2021, and May 1, 2023 with the synthetic matrix in head and neck reconstructions. Reconstructions included exposed muscle, scalp wounds, intra-oral defects, and radial forearm free flap donor sites. Wound sizes ranged from 2 × 2 cm to 18 × 10 cm. Serial photographs were taken to evaluate wound healing at 1, 4, 8, 12, and 16 weeks timepoints after application. Outcomes measured at each timepoint included wound size, presence of granulation tissue, and extent of epithelialization. No hematomas or wound complications were encountered. Complete wound healing was noted between 6 and 12 weeks, dependent on wound size. The synthetic matrix significantly promoted wound healing via early granulation tissue formation and epithelialization, or mucosalization, in all head and neck applications. Scar formation and contracture were acceptable in all cases.</p><p><strong>Conclusion: </strong>The use of synthetic hybrid-scale fiber matrix promotes wound healing and avoids patient morbidity associated with traditional allogenic and biogenic treatments, such as split-thickness skin grafts. This synthetic matrix has been demonstrated to be a valuable asset in the head and neck reconstructive armamentarium.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"17 1","pages":"622-629"},"PeriodicalIF":0.7,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626114","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}
Bassam Matar, Maureen Chbat, Houssam Bitar, Francisco Rosado
{"title":"Primary Diffuse Large B-Cell Lymphoma of the Breast with MYC and BCL2 Rearrangements with Terminal Deoxynucleotidyl Transferase Expression: A Case Report.","authors":"Bassam Matar, Maureen Chbat, Houssam Bitar, Francisco Rosado","doi":"10.1159/000536551","DOIUrl":"10.1159/000536551","url":null,"abstract":"<p><strong>Introduction: </strong>Primary breast lymphoma represents only 1% of non-Hodgkin lymphomas. The most common histology is diffuse large B-cell lymphoma. When dual translocations of MYC and BCL2 or BCL6 occur, it is referred to as \"high-grade B-cell lymphoma with rearrangements of MYC and BCL2 and/or BCL6\" according to the 4th edition of the WHO classification of hematolymphoid tumors. The expression of tdt in this type of malignancy is exceptional.</p><p><strong>Case report: </strong>This is a case of a 54-year-old woman presenting with a rapidly growing painless mass. Ultrasound-guided core biopsy of the breast mass showed infiltrate of medium-sized neoplastic lymphocytes which stained as CD79a-positive B cells co-expressing CD10, BCL2, tdt, and MYC. Ki-67 is positive in 80%. There was rearrangement of MYC and BCL2 at FISH. Positron emission tomography (PET) scan was negative elsewhere. Final diagnosis was a DLBCL of the breast with tdt expression. She was treated with 6 cycles of R-hyperCVAD/MA (R = rituximab, C = cyclophosphamide, V = vincristine, A = cytarabine, D = dexamethasone, M = methotrexate) and intrathecal chemotherapy (IT CT). Restaging PET shows resolution of all avid uptake. We did a review of literature showing the importance of giving an intensive chemotherapy regimen, high-dose methotrexate, cytarabine, and IT CT for central nervous system (CNS) prophylaxis.</p><p><strong>Conclusion: </strong>Primary DLBCL of the breast with rearrangement of MYC and BCL2 and tdt expression is an aggressive disease not very well studied that needs to be treated with an intensive CT and CNS prophylaxis. Stem cell transplant could be given after first remission.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"17 1","pages":"614-621"},"PeriodicalIF":0.7,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626060","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}