Secondary extramammary Paget's disease is a rare condition associated with the contiguous extension of tumor cells from the underlying adnexal structures, genitourinary, or gastrointestinal tracts. We report the case of an 80-year-old female with a 7-year history of urothelial carcinoma who presented with erythema of the labia majora. The diagnosis was pagetoid spread of urothelial carcinoma. The patient declined surgical resection of the lesion. She underwent nine cycles of first-line platinum-based chemotherapy and received one course of pembrolizumab for metastatic urothelial carcinoma. As the lesion progressively enlarged, third-line therapy with enfortumab vedotin was initiated, which resulted in significant tumor reduction. This allowed for a successful surgical complete resection of the tumor. Enfortumab vedotin was highly effective and demonstrated dramatic efficacy for controlling extramammary Paget's disease secondary to urothelial carcinoma.
{"title":"A case of pagetoid spread of urothelial carcinoma with notable reduction achieved through enfortumab vedotin, resulting in complete surgical resection.","authors":"Kenichi Tokuoka, Katsuki Muramoto, Keigo Sakanaka, Kentaro Yoshihara, Shutaro Yamamoto, Yu Imai, Kosuke Iwatani, Kojiro Tashiro, Masaya Murakami, Tohru Harada, Takuya Hayashimoto, Miyaka Umemori, Takahiro Kimura, Tatsuya Shimomura, Fumihiko Urabe","doi":"10.1007/s13691-024-00720-3","DOIUrl":"https://doi.org/10.1007/s13691-024-00720-3","url":null,"abstract":"<p><p>Secondary extramammary Paget's disease is a rare condition associated with the contiguous extension of tumor cells from the underlying adnexal structures, genitourinary, or gastrointestinal tracts. We report the case of an 80-year-old female with a 7-year history of urothelial carcinoma who presented with erythema of the labia majora. The diagnosis was pagetoid spread of urothelial carcinoma. The patient declined surgical resection of the lesion. She underwent nine cycles of first-line platinum-based chemotherapy and received one course of pembrolizumab for metastatic urothelial carcinoma. As the lesion progressively enlarged, third-line therapy with enfortumab vedotin was initiated, which resulted in significant tumor reduction. This allowed for a successful surgical complete resection of the tumor. Enfortumab vedotin was highly effective and demonstrated dramatic efficacy for controlling extramammary Paget's disease secondary to urothelial carcinoma.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"13 4","pages":"510-514"},"PeriodicalIF":0.5,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11465035/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464375","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}
Immune checkpoint inhibitors (ICI) represent a major advance in the treatment of cancer. Most studies of ICI have underestimated their cardiotoxicity; however, an increasing number of cases of cardiotoxicity are being reported. Herein we discussed a 67-year-old, male, Japanese patient who presented with cardiogenic shock accompanied by sick sinus syndrome 4 days into his second course of ipilimumab plus nivolumab combination therapy. A temporary transvenous pacemaker was subsequently placed, and a permanent pacemaker was implanted for persistent, symptomatic, intermittent bradycardia. The permanent implantation of the pacemaker improved his symptoms and allowed him to continue his ICI therapy.
{"title":"Immune checkpoint inhibitor-associated sick sinus syndrome and cardiogenic shock.","authors":"Masatake Kitano, Makiko Yomota, Kansuke Ito, Yukio Hosomi","doi":"10.1007/s13691-024-00718-x","DOIUrl":"https://doi.org/10.1007/s13691-024-00718-x","url":null,"abstract":"<p><p>Immune checkpoint inhibitors (ICI) represent a major advance in the treatment of cancer. Most studies of ICI have underestimated their cardiotoxicity; however, an increasing number of cases of cardiotoxicity are being reported. Herein we discussed a 67-year-old, male, Japanese patient who presented with cardiogenic shock accompanied by sick sinus syndrome 4 days into his second course of ipilimumab plus nivolumab combination therapy. A temporary transvenous pacemaker was subsequently placed, and a permanent pacemaker was implanted for persistent, symptomatic, intermittent bradycardia. The permanent implantation of the pacemaker improved his symptoms and allowed him to continue his ICI therapy.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"13 4","pages":"504-509"},"PeriodicalIF":0.5,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11464964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464411","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}
Soft tissue sarcomas account for only 1.5% of malignant tumors in adults and are therefore challenging to treat. We present a case of myxofibrosarcoma of the lower leg in an 88-year-old woman who successfully responded to combined hyperthermia and radiotherapy. We proposed a below-knee amputation because of the spread of the lesion, but the patient opted for hyperthermia with radiotherapy. One and a half years later, the tumor partially regrew, and the regrown mass was resected with an R0 margin. Unfortunately, the patient developed a surgical site infection immediately after the resection, and a skin ulcer formed. It took about 2 years for conservative treatment to result in complete ulcer epithelization. The patient has been ambulant, and has not experienced any symptoms of local recurrence or metastasis in the two and a half years since the surgery. Although adverse events related to combined hyperthermia and radiotherapy, such as delayed wound healing, should be considered, it could be an option for the treatment of localized soft-tissue sarcoma, especially in elderly patients.
{"title":"Limb salvage using radical combined hyperthermia and radiotherapy for myxofibrosarcoma of the lower leg in an elderly patient.","authors":"Katsuhiro Esaki, Tomoya Matsunobu, Satoshi Nomoto, Yumi Shimohata, Akira Maekawa, Masato Yoshimoto","doi":"10.1007/s13691-024-00719-w","DOIUrl":"https://doi.org/10.1007/s13691-024-00719-w","url":null,"abstract":"<p><p>Soft tissue sarcomas account for only 1.5% of malignant tumors in adults and are therefore challenging to treat. We present a case of myxofibrosarcoma of the lower leg in an 88-year-old woman who successfully responded to combined hyperthermia and radiotherapy. We proposed a below-knee amputation because of the spread of the lesion, but the patient opted for hyperthermia with radiotherapy. One and a half years later, the tumor partially regrew, and the regrown mass was resected with an R0 margin. Unfortunately, the patient developed a surgical site infection immediately after the resection, and a skin ulcer formed. It took about 2 years for conservative treatment to result in complete ulcer epithelization. The patient has been ambulant, and has not experienced any symptoms of local recurrence or metastasis in the two and a half years since the surgery. Although adverse events related to combined hyperthermia and radiotherapy, such as delayed wound healing, should be considered, it could be an option for the treatment of localized soft-tissue sarcoma, especially in elderly patients.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"13 4","pages":"499-503"},"PeriodicalIF":0.5,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11464714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464412","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}
Pub Date : 2024-08-27eCollection Date: 2024-10-01DOI: 10.1007/s13691-024-00717-y
Vigneshwaran Chandran, Kannan Periasamy, Lileswar Kaman, Kirti Gupta, Uma Nahar
Small intestinal metastasis is extremely rare and only 13 cases have been reported till date and almost all such patients have presented with intestinal obstruction. The 5-year overall survival for metastatic esophageal cancer is as low as 5% while the patients with small intestinal metastasis have a median survival of only 3 months (range 1-12 months) despite undergoing radical resection of the small bowel. We present a case of a male in his 50's who presented with difficulty in swallowing for 4 months. On evaluation, he was found to have squamous cell carcinoma in the mid thoracic esophagus. He underwent radical chemo-radiation up to 60 Gy in 25 fractions over 5 weeks. One week after completion of treatment he presented with ileal obstruction and omental nodules and surgical resection and evaluation of the respective ileal segment and omental biopsy revealed a metastatic squamous cell carcinoma. The patient expired 3 months post-surgery. Carcinoma esophagus with small bowel metastasis has a very grave prognosis that patients rarely survive beyond 1 year despite undergoing resection. Hence it is imperative to consider a small bowel metastasis when such patients present with clinical features of intestinal obstruction for early diagnosis and aggressive management.
{"title":"Carcinoma esophagus with small bowel metastasis: a case report with review of literature.","authors":"Vigneshwaran Chandran, Kannan Periasamy, Lileswar Kaman, Kirti Gupta, Uma Nahar","doi":"10.1007/s13691-024-00717-y","DOIUrl":"https://doi.org/10.1007/s13691-024-00717-y","url":null,"abstract":"<p><p>Small intestinal metastasis is extremely rare and only 13 cases have been reported till date and almost all such patients have presented with intestinal obstruction. The 5-year overall survival for metastatic esophageal cancer is as low as 5% while the patients with small intestinal metastasis have a median survival of only 3 months (range 1-12 months) despite undergoing radical resection of the small bowel. We present a case of a male in his 50's who presented with difficulty in swallowing for 4 months. On evaluation, he was found to have squamous cell carcinoma in the mid thoracic esophagus. He underwent radical chemo-radiation up to 60 Gy in 25 fractions over 5 weeks. One week after completion of treatment he presented with ileal obstruction and omental nodules and surgical resection and evaluation of the respective ileal segment and omental biopsy revealed a metastatic squamous cell carcinoma. The patient expired 3 months post-surgery. Carcinoma esophagus with small bowel metastasis has a very grave prognosis that patients rarely survive beyond 1 year despite undergoing resection. Hence it is imperative to consider a small bowel metastasis when such patients present with clinical features of intestinal obstruction for early diagnosis and aggressive management.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"13 4","pages":"449-453"},"PeriodicalIF":0.5,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11464811/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464380","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}
Though multiple relapses and serial shortening of remission is one of the characteristics of follicular lymphoma (FL), standard third- and later-line treatments with clear evidence have not yet been established. Tazemetostat, the first oral enhancer of zester homolog 2 (EZH2) inhibitor, showed a favorable clinical outcome and safety profile against relapsed mutant EZH2 FL in a clinical trial and was applied to this clinical setting. Peripheral blood involvement, known as the leukemic phase, was observed in approximately 10% of patients with FL and reported as a poor prognostic factor. However, because of the infrequency of EZH2-activating mutations, clinical data on tazemetostat against FL in the leukemic phase is lacking. Herein, we report a case of multiple relapsed FL in the leukemic phase for which tazemetostat was administered as a sixth-line treatment. Tazemetostat monotherapy showed a slow and sustained clinical efficacy in the leukemic phase as shown by nodal involvement. Circulating lymphoma cells gradually decreased and disappeared in counts after 4 months of treatment. However, circulating lymphoma cells were still detected by flow cytometry up to 6 months of treatment and finally undetected after 9 months. Extended-interval dosing of tazemetostat transformed a partial response into a complete response. Thus, tazemetostat is effective for the treatment of multiple relapsed FL in the leukemic phase.
{"title":"Complete response using the <i>EZH2</i> inhibitor tazemetostat against multiple relapsed follicular lymphoma in the leukemic phase.","authors":"Shohei Kikuchi, Yoshimi Nabe, Ryusuke Horaguchi, Tomoki Minemura, Jun Murakami, Akira Noguchi, Kohji Takagi, Yusuke Kamihara, Akinori Wada, Takuma Fujihira, Tsutomu Sato","doi":"10.1007/s13691-024-00716-z","DOIUrl":"https://doi.org/10.1007/s13691-024-00716-z","url":null,"abstract":"<p><p>Though multiple relapses and serial shortening of remission is one of the characteristics of follicular lymphoma (FL), standard third- and later-line treatments with clear evidence have not yet been established. Tazemetostat, the first oral enhancer of zester homolog 2 (<i>EZH2)</i> inhibitor, showed a favorable clinical outcome and safety profile against relapsed mutant <i>EZH2</i> FL in a clinical trial and was applied to this clinical setting. Peripheral blood involvement, known as the leukemic phase, was observed in approximately 10% of patients with FL and reported as a poor prognostic factor. However, because of the infrequency of <i>EZH2</i>-activating mutations, clinical data on tazemetostat against FL in the leukemic phase is lacking. Herein, we report a case of multiple relapsed FL in the leukemic phase for which tazemetostat was administered as a sixth-line treatment. Tazemetostat monotherapy showed a slow and sustained clinical efficacy in the leukemic phase as shown by nodal involvement. Circulating lymphoma cells gradually decreased and disappeared in counts after 4 months of treatment. However, circulating lymphoma cells were still detected by flow cytometry up to 6 months of treatment and finally undetected after 9 months. Extended-interval dosing of tazemetostat transformed a partial response into a complete response. Thus, tazemetostat is effective for the treatment of multiple relapsed FL in the leukemic phase.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"13 4","pages":"488-492"},"PeriodicalIF":0.5,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11465062/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464382","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}
Abemaciclib (ABM) is recommended for adjuvant endocrine therapy in hormone receptor-positive, human epidermal growth factor receptor type 2-negative early breast cancer (EBC) patients at high risk of recurrence. Here, we present a case of radiation hepatitis challenging to differentiate from drug-induced liver injury during ABM treatment. The patient, a woman in her 40 s, underwent right mastectomy, axillary dissection, and postmastectomy radiation therapy (PMRT) after neoadjuvant chemotherapy for EBC. Subsequently, she received ABM as adjuvant endocrine therapy. Despite suspending ABM due to Grade 3 leukopenia, she developed Grade 3 hepatic dysfunction upon cessation. Based on the dynamic contrast-enhanced computed tomography, we diagnosed the cause of liver dysfunction as radiation hepatitis. Spontaneous improvement allowed us to resume ABM treatment. Clinicians may need to consider radiation hepatitis as a potential cause of hepatic dysfunction in patients who underwent PMRT, along with drug-induced liver injury.
{"title":"Radiation hepatitis after postmastectomy radiation therapy for early breast cancer: difficult to differentiate from drug-induced liver injury caused by abemaciclib.","authors":"Shogo Nakamoto, Takahiro Waki, Asuka Mimata, Takahiro Tsukioki, Yuko Takahashi, Yoko Iwatani, Tsuguo Iwatani, Tadahiko Shien","doi":"10.1007/s13691-024-00714-1","DOIUrl":"https://doi.org/10.1007/s13691-024-00714-1","url":null,"abstract":"<p><p>Abemaciclib (ABM) is recommended for adjuvant endocrine therapy in hormone receptor-positive, human epidermal growth factor receptor type 2-negative early breast cancer (EBC) patients at high risk of recurrence. Here, we present a case of radiation hepatitis challenging to differentiate from drug-induced liver injury during ABM treatment. The patient, a woman in her 40 s, underwent right mastectomy, axillary dissection, and postmastectomy radiation therapy (PMRT) after neoadjuvant chemotherapy for EBC. Subsequently, she received ABM as adjuvant endocrine therapy. Despite suspending ABM due to Grade 3 leukopenia, she developed Grade 3 hepatic dysfunction upon cessation. Based on the dynamic contrast-enhanced computed tomography, we diagnosed the cause of liver dysfunction as radiation hepatitis. Spontaneous improvement allowed us to resume ABM treatment. Clinicians may need to consider radiation hepatitis as a potential cause of hepatic dysfunction in patients who underwent PMRT, along with drug-induced liver injury.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"13 4","pages":"471-475"},"PeriodicalIF":0.5,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11464992/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464418","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}
Hypogonadotropic hypogonadism can be caused by brain tumors. For a malignancy such as a germ cell tumor, chemotherapy combined with radiation is administered. In patients who wish for children, the inability to undergo sperm cryopreservation before treatment because of impaired spermatogenesis and/or ejaculation dysfunction can be problematic. We herein present two cases involving a 26-year-old man and a 30-year-old man with hypogonadotropic hypogonadism due to an intracranial germinoma and both wished to have children. Gonadotropin replacement therapy prior to anticancer chemotherapy resulted in subsequent spontaneous pregnancy or assisted reproductive therapy. Subsequent treatment of the tumor resulted in no recurrence for 9 and 2 years, respectively. Close consultation with an oncologist is mandatory in such cases. Depending on the tumor prognosis, however, it may be possible to delay tumor treatment and prioritize fertility because there is a possibility of impaired spermatogenesis due to additional chemotherapy.
{"title":"Fertility preservation in men with hypogonadotropic hypogonadism secondary to germinoma: two cases of gonadotropin replacement therapy before induction of anticancer chemotherapy.","authors":"Yasuhiro Kaku, Koji Chiba, Yosuke Yamashita, Shun Kawamura, Katsuya Sato, Takuto Hara, Keisuke Okada, Hideaki Miyake","doi":"10.1007/s13691-024-00711-4","DOIUrl":"https://doi.org/10.1007/s13691-024-00711-4","url":null,"abstract":"<p><p>Hypogonadotropic hypogonadism can be caused by brain tumors. For a malignancy such as a germ cell tumor, chemotherapy combined with radiation is administered. In patients who wish for children, the inability to undergo sperm cryopreservation before treatment because of impaired spermatogenesis and/or ejaculation dysfunction can be problematic. We herein present two cases involving a 26-year-old man and a 30-year-old man with hypogonadotropic hypogonadism due to an intracranial germinoma and both wished to have children. Gonadotropin replacement therapy prior to anticancer chemotherapy resulted in subsequent spontaneous pregnancy or assisted reproductive therapy. Subsequent treatment of the tumor resulted in no recurrence for 9 and 2 years, respectively. Close consultation with an oncologist is mandatory in such cases. Depending on the tumor prognosis, however, it may be possible to delay tumor treatment and prioritize fertility because there is a possibility of impaired spermatogenesis due to additional chemotherapy.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"13 4","pages":"468-470"},"PeriodicalIF":0.5,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11464966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464408","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}
A 54-year-old man with resectable pancreatic cancer and abnormally high levels of carbohydrate antigen 19-9 (CA19-9) underwent 6 months of platinum-based chemotherapy. This treatment substantially reduced the primary tumor size and normalized CA19-9 levels. Subsequently, radical surgery was conducted. However, eight months post-surgery, CA19-9 levels re-elevated, and lymph-node recurrence was observed. The patient underwent treatment with poly(adenosine diphosphate ribose) polymerase inhibitors (PARPi) following the detection of frameshift L1904fs*5 via BRACAnalysis CDx. This mutation revealed a stop codon, leading to the inactivation of the BRCA function. Additionally, the patient tested positive for a mutation in the breast cancer susceptibility gene 2 (BRCA2). Two months after starting PARPi, there was evidence of tumor shrinkage. Nevertheless, 5 months later, CA19-9 levels increased again, and new metastatic tumors in the liver were identified. Genomic profiling test (FoundationOne CDx) of surgically resected specimens revealed a BRCA2 pL1908fs*2 mutation, indicating its location in the cis position on the same allele as the germline BRCA2 mutation. The pL1908fs*2 deletion, alongside the original L1904fs*5, resulted in three deletions, equating to one amino acid deletion. This deletion ultimately reversed the stop codon, leading to the restoration of BRCA2 functionality. Despite treatment with PARPi for postoperative recurrence, a sustained response was not achieved owing to BRCA reversion mutations. It is essential to acknowledge the rarity of BRCA reversion mutations, which limit the effectiveness of PARPi.
{"title":"High likelihood of BRCA2 reversion mutation in pancreatic cancer post-platinum-based chemotherapy: a case study.","authors":"Taro Hanaoka, Kosuke Okuwaki, Kohei Nakamura, Shunji Okada, Nobuyuki Nishizawa, Masafumi Watanabe, Tomohisa Iwai, Kai Adachi, Yusuke Kumamoto, Chika Kusano","doi":"10.1007/s13691-024-00715-0","DOIUrl":"https://doi.org/10.1007/s13691-024-00715-0","url":null,"abstract":"<p><p>A 54-year-old man with resectable pancreatic cancer and abnormally high levels of carbohydrate antigen 19-9 (CA19-9) underwent 6 months of platinum-based chemotherapy. This treatment substantially reduced the primary tumor size and normalized CA19-9 levels. Subsequently, radical surgery was conducted. However, eight months post-surgery, CA19-9 levels re-elevated, and lymph-node recurrence was observed. The patient underwent treatment with poly(adenosine diphosphate ribose) polymerase inhibitors (PARPi) following the detection of frameshift L1904fs*5 via BRACAnalysis CDx. This mutation revealed a stop codon, leading to the inactivation of the <i>BRCA</i> function. Additionally, the patient tested positive for a mutation in the breast cancer susceptibility gene 2 (<i>BRCA2</i>). Two months after starting PARPi, there was evidence of tumor shrinkage. Nevertheless, 5 months later, CA19-9 levels increased again, and new metastatic tumors in the liver were identified. Genomic profiling test (FoundationOne CDx) of surgically resected specimens revealed a <i>BRCA2</i> pL1908fs*2 mutation, indicating its location in the cis position on the same allele as the germline <i>BRCA2</i> mutation. The pL1908fs*2 deletion, alongside the original L1904fs*5, resulted in three deletions, equating to one amino acid deletion. This deletion ultimately reversed the stop codon, leading to the restoration of <i>BRCA2</i> functionality. Despite treatment with PARPi for postoperative recurrence, a sustained response was not achieved owing to <i>BRCA</i> reversion mutations. It is essential to acknowledge the rarity of <i>BRCA</i> reversion mutations, which limit the effectiveness of PARPi.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"13 4","pages":"493-498"},"PeriodicalIF":0.5,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11464854/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464410","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}
Mucoepidermoid carcinoma is the most prevalent malignancy in the salivary gland and is sporadic in the breast. Here, we report a case of breast mucoepidermoid carcinoma with a rare CREB-regulated transcription coactivator 3-mastermind-like transcriptional coactivator 2 (CRTC3-MAML2) fusion. A 23-year-old female was admitted to our hospital with a left breast palpable mass. Histologic findings of the core-needle biopsy indicated breast cancer. The section revealed a squamoid tumor-cell proliferation with enlarged nuclei and eosinophilic cytoplasm among smaller intermediate cells and abundant cystic spaces containing secretory materials. The features were compatible with mucoepidermoid carcinoma in low-grade, confirmed by detecting the CRTC3-MAML2 fusion using reverse transcription polymerase chain reaction and direct sequencing. We only administered tamoxifen postoperatively without other adjuvant therapy because her tumor partially expressed hormonal receptors. No signs indicate a recurrence or metastasis in our over 3 year follow-up. The genetic analysis helps in definitively diagnosing breast mucoepidermoid carcinoma, and the treatment strategy should be considered based on the histologic findings.
{"title":"Breast mucoepidermoid carcinoma with a rare CRTC3-MAML2 fusion.","authors":"Kana Kawaguchi, Hideki Ijichi, Hiroki Ueo, Yuichi Hisamatsu, Sachie Omori, Tomoko Shigechi, Kengo Kawaguchi, Hidetaka Yamamoto, Yoshinao Oda, Makoto Kubo, Tomoharu Yoshizumi","doi":"10.1007/s13691-024-00713-2","DOIUrl":"https://doi.org/10.1007/s13691-024-00713-2","url":null,"abstract":"<p><p>Mucoepidermoid carcinoma is the most prevalent malignancy in the salivary gland and is sporadic in the breast. Here, we report a case of breast mucoepidermoid carcinoma with a rare CREB-regulated transcription coactivator 3-mastermind-like transcriptional coactivator 2 (<i>CRTC3-MAML2</i>) fusion. A 23-year-old female was admitted to our hospital with a left breast palpable mass. Histologic findings of the core-needle biopsy indicated breast cancer. The section revealed a squamoid tumor-cell proliferation with enlarged nuclei and eosinophilic cytoplasm among smaller intermediate cells and abundant cystic spaces containing secretory materials. The features were compatible with mucoepidermoid carcinoma in low-grade, confirmed by detecting the <i>CRTC3-MAML2</i> fusion using reverse transcription polymerase chain reaction and direct sequencing. We only administered tamoxifen postoperatively without other adjuvant therapy because her tumor partially expressed hormonal receptors. No signs indicate a recurrence or metastasis in our over 3 year follow-up. The genetic analysis helps in definitively diagnosing breast mucoepidermoid carcinoma, and the treatment strategy should be considered based on the histologic findings.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"13 4","pages":"481-487"},"PeriodicalIF":0.5,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11464662/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464379","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}
Cerebral arterial air embolism (CAE) is a rare complication after esophageal stenting, but it can be life-threatening. It is especially a concern for those with a history of previous gastrointestinal cancer therapies. We report a case of CAE after esophageal stenting in a patient with recurrent gastroesophageal junction cancer and a history of multiple cancer treatments. A 71 year-old man with a history of a proximal gastrectomy, resection of the lower esophagus, chemotherapy, and radiation presented to our hospital 2 weeks after stenting with epigastric and back pain. Mediastinitis was suspected and conservative treatment was begun. The patient suddenly developed altered mental status, left hemiplegia, and anisocoria after drinking water. A brain computed tomography (CT) revealed right-sided predominance of multifocal CAE. Chest and abdominal CT showed a hematoma in the gastric and duodenal wall and an intraluminal hematoma from the esophagus, around the stent, to the upper ileum. CAE was thought to be due to rupture of the recurrent tumor. Unfortunately, despite intensive care, the patient died about 5 h after the onset of neurological symptoms. It has been reported that prior treatments, such as chemotherapy and radiotherapy, increase the risk of life-threatening adverse events, including CAE after esophageal stenting. Clinicians should keep in mind the possibility of CAE after esophageal stenting in patients with a history of multiple cancer treatments.
{"title":"Cerebral arterial air embolism after esophageal stenting for recurrence of gastroesophageal junction cancer: a case report.","authors":"Susumu Saigusa, Yuki Aono, Hiroyuki Fujikawa, Ryo Uratani, Shuyo Watanabe, Hiroyuki Sakurai, Masaki Ohi, Koji Tanaka","doi":"10.1007/s13691-024-00710-5","DOIUrl":"https://doi.org/10.1007/s13691-024-00710-5","url":null,"abstract":"<p><p>Cerebral arterial air embolism (CAE) is a rare complication after esophageal stenting, but it can be life-threatening. It is especially a concern for those with a history of previous gastrointestinal cancer therapies. We report a case of CAE after esophageal stenting in a patient with recurrent gastroesophageal junction cancer and a history of multiple cancer treatments. A 71 year-old man with a history of a proximal gastrectomy, resection of the lower esophagus, chemotherapy, and radiation presented to our hospital 2 weeks after stenting with epigastric and back pain. Mediastinitis was suspected and conservative treatment was begun. The patient suddenly developed altered mental status, left hemiplegia, and anisocoria after drinking water. A brain computed tomography (CT) revealed right-sided predominance of multifocal CAE. Chest and abdominal CT showed a hematoma in the gastric and duodenal wall and an intraluminal hematoma from the esophagus, around the stent, to the upper ileum. CAE was thought to be due to rupture of the recurrent tumor. Unfortunately, despite intensive care, the patient died about 5 h after the onset of neurological symptoms. It has been reported that prior treatments, such as chemotherapy and radiotherapy, increase the risk of life-threatening adverse events, including CAE after esophageal stenting. Clinicians should keep in mind the possibility of CAE after esophageal stenting in patients with a history of multiple cancer treatments.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":"13 4","pages":"460-467"},"PeriodicalIF":0.5,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11464815/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464381","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}