M. Leventer, C. Coltoiu, Alexandra Zota, T. Tebeică, Carmen Lisievici, A. Martinescu
Background: Brooke–Spiegler Syndrome is a rare genetic autosomal dominant disorder with variable penetrance. Its main feature consists of the development of multiple adnexal tumors that originate from the follicular-sebaceous-apocrine unit, most commonly: cylindromas, trichoepitheliomas and spiradenomas. Case presentation: We present four cases of Brooke–Spiegler Syndrome found in our clinic, as well as their clinicopathological traits and the surgical techniques used in their management. The familial history of three of the presented cases supports the genetic component of the disease. Cylindromas, spiradenomas and trichoepitheliomas coexisted in one of the cases presented. The therapeutic options used were electrocautery, CO2 laser, as well as tumor debulking followed by closure with metal staples. Discussion: The treatment remains a challenge and must be individualized based on the type, location and number of the lesions. Conservative methods such as CO2 laser and tumor debulking accompanied by closure with metal staples remain a viable option taking into account the large number of lesions. As patients usually develop multiple neoplasms throughout their lifetime, repeated procedures may be needed. Conclusion: Considering the few numbers of Brooke–Spiegler syndrome cases in the current literature, the authors report these patients in order to increase awareness and to help establish the most appropriate approach in managing the disease.
{"title":"Observations on Four Cases of Brooke–Spiegler Syndrome","authors":"M. Leventer, C. Coltoiu, Alexandra Zota, T. Tebeică, Carmen Lisievici, A. Martinescu","doi":"10.3390/REPORTS3040028","DOIUrl":"https://doi.org/10.3390/REPORTS3040028","url":null,"abstract":"Background: Brooke–Spiegler Syndrome is a rare genetic autosomal dominant disorder with variable penetrance. Its main feature consists of the development of multiple adnexal tumors that originate from the follicular-sebaceous-apocrine unit, most commonly: cylindromas, trichoepitheliomas and spiradenomas. Case presentation: We present four cases of Brooke–Spiegler Syndrome found in our clinic, as well as their clinicopathological traits and the surgical techniques used in their management. The familial history of three of the presented cases supports the genetic component of the disease. Cylindromas, spiradenomas and trichoepitheliomas coexisted in one of the cases presented. The therapeutic options used were electrocautery, CO2 laser, as well as tumor debulking followed by closure with metal staples. Discussion: The treatment remains a challenge and must be individualized based on the type, location and number of the lesions. Conservative methods such as CO2 laser and tumor debulking accompanied by closure with metal staples remain a viable option taking into account the large number of lesions. As patients usually develop multiple neoplasms throughout their lifetime, repeated procedures may be needed. Conclusion: Considering the few numbers of Brooke–Spiegler syndrome cases in the current literature, the authors report these patients in order to increase awareness and to help establish the most appropriate approach in managing the disease.","PeriodicalId":383932,"journal":{"name":"Reports—Medical Cases, Images, and Videos","volume":"56 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117191917","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}
Follicular thyroid carcinoma is a slowly growing cancer with a generally good long-term prognosis. Distant metastasis from follicular thyroid cancer usually occurs in the lung and bones following a long period after diagnosis and treatment for primary cancer. Occult skull metastasis as the first presentation at diagnosis from follicular thyroid cancer is relatively rare. A 51-year-old woman presented with intermittent pain in her right hip that was treated due to the intensely progressed pain, motor weakness, and difficulty walking. The patient was then referred due to swelling in the forehead. Further evaluation revealed that the frontal swelling and the pathological femoral fractures were manifestations of distant metastases from follicular thyroid cancer. In the presence of swelling in the skull, the metastatic lesion should be considered as a differential diagnosis from a silent primary cancer. This report will be beneficial for general practitioners, surgeons, and internists to recognize unusual distant metastatic manifestations from silent differentiated thyroid cancer.
{"title":"Concurrent Hip Pain and Skull Lump as the First Manifestations of a Silent Follicular Thyroid Carcinoma","authors":"K. Setiaji, W. S. Avanti, H. Rinonce, S. Anwar","doi":"10.3390/REPORTS3040027","DOIUrl":"https://doi.org/10.3390/REPORTS3040027","url":null,"abstract":"Follicular thyroid carcinoma is a slowly growing cancer with a generally good long-term prognosis. Distant metastasis from follicular thyroid cancer usually occurs in the lung and bones following a long period after diagnosis and treatment for primary cancer. Occult skull metastasis as the first presentation at diagnosis from follicular thyroid cancer is relatively rare. A 51-year-old woman presented with intermittent pain in her right hip that was treated due to the intensely progressed pain, motor weakness, and difficulty walking. The patient was then referred due to swelling in the forehead. Further evaluation revealed that the frontal swelling and the pathological femoral fractures were manifestations of distant metastases from follicular thyroid cancer. In the presence of swelling in the skull, the metastatic lesion should be considered as a differential diagnosis from a silent primary cancer. This report will be beneficial for general practitioners, surgeons, and internists to recognize unusual distant metastatic manifestations from silent differentiated thyroid cancer.","PeriodicalId":383932,"journal":{"name":"Reports—Medical Cases, Images, and Videos","volume":"43 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127034557","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}
Masahiro Okada, Kazuko Okazaki, F. Murakami, S. Okamoto, Hiroki Sugihara, Kengo Banshoya, T. Onoda, Eisuke Takei, Shuso Takeda, N. Sugihara
For the estimation of short-term prognosis in terminal cancer patients, it is important to establish a prognostic index that does not involve blood tests. We compared the prognostic ability of the Barthel Index (BI) with the Glasgow Prognostic Score (GPS). Ninety-seven inpatients with terminal cancer at Onomichi Municipal Hospital who died between 2018 and 2019 were retrospectively analyzed. The sensitivity, specificity, accuracy, and area under the receiver operating characteristic curve (AUROC) were compared between the BI and GPS. For predicting the 15 day prognosis, the BI showed higher specificity, accuracy, and AUROC than the GPS. For predicting the 30 day prognosis, the BI showed higher sensitivity, accuracy, and AUROC than the GPS. The BI can predict the 15 or 30 day prognosis in terminal cancer patients. As the BI does not require blood tests, it may be an option for prognostic prediction in terminal cancer patients.
{"title":"Examination of a Short-Term, Prognostic Predictive Method for Terminal Cancer Patients Using the Barthel Index","authors":"Masahiro Okada, Kazuko Okazaki, F. Murakami, S. Okamoto, Hiroki Sugihara, Kengo Banshoya, T. Onoda, Eisuke Takei, Shuso Takeda, N. Sugihara","doi":"10.3390/REPORTS3030026","DOIUrl":"https://doi.org/10.3390/REPORTS3030026","url":null,"abstract":"For the estimation of short-term prognosis in terminal cancer patients, it is important to establish a prognostic index that does not involve blood tests. We compared the prognostic ability of the Barthel Index (BI) with the Glasgow Prognostic Score (GPS). Ninety-seven inpatients with terminal cancer at Onomichi Municipal Hospital who died between 2018 and 2019 were retrospectively analyzed. The sensitivity, specificity, accuracy, and area under the receiver operating characteristic curve (AUROC) were compared between the BI and GPS. For predicting the 15 day prognosis, the BI showed higher specificity, accuracy, and AUROC than the GPS. For predicting the 30 day prognosis, the BI showed higher sensitivity, accuracy, and AUROC than the GPS. The BI can predict the 15 or 30 day prognosis in terminal cancer patients. As the BI does not require blood tests, it may be an option for prognostic prediction in terminal cancer patients.","PeriodicalId":383932,"journal":{"name":"Reports—Medical Cases, Images, and Videos","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116772101","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}
Shintaro Izumi, Y. Minami, S. Masuda, Y. Utsu, E. Sakaida, N. Aotsuka
As the potent, selective Fms-Like Tyrosine Kinase 3 (FLT3) inhibitor gilteritinib has only been approved for use for a few years, its efficacy and complications remain incompletely understood. We herein report an elderly patient with FLT3 internal tandem duplications (FLT3-ITD) mutated acute myeloid leukemia (AML) who developed natural killer cell large granular lymphocytes (NK-LGL) in the bone marrow and peripheral blood during gilteritinib treatment. Case: A 79-year-old Japanese female had been diagnosed with FLT3-ITD-mutated AML. The patient received hydroxycarbamide 2000 mg daily for induction chemotherapy but did not achieve remission at day 28 postinduction. The treatment was then changed to gilteritinib 120 mg daily. Although the reduction of blasts in peripheral blood occurred immediately, it was revealed abnormal lymphocytes with large granules developed in bone marrow and peripheral blood. These lymphocytes were analyzed by flow cytometry, which revealed that these cells were NK-LGL because they expressed CD2, CD7, CD16, and CD56 and did not express CD3, CD19, and CD20. The patient achieved partial remission (PR) in a month with gilteritinib treatment. Leukemia eventually could not be controlled, but PR persisted for about 4 months and leukemia was controlled for 4 months after progression disease (PD) with gilteritinib treatment alone. Conclusion: Gilteritinib may induce the NK-LGL. The exact mechanism and effect of LGL in patients with FLT3 mutated AML treated with gilteritinib warrants further investigation.
{"title":"Emergence of Natural Killer Cell Large Granular Lymphocytes during Gilteritinib Treatment in Acute Myeloid Leukemia with FLT3-ITD Mutation","authors":"Shintaro Izumi, Y. Minami, S. Masuda, Y. Utsu, E. Sakaida, N. Aotsuka","doi":"10.3390/REPORTS3030025","DOIUrl":"https://doi.org/10.3390/REPORTS3030025","url":null,"abstract":"As the potent, selective Fms-Like Tyrosine Kinase 3 (FLT3) inhibitor gilteritinib has only been approved for use for a few years, its efficacy and complications remain incompletely understood. We herein report an elderly patient with FLT3 internal tandem duplications (FLT3-ITD) mutated acute myeloid leukemia (AML) who developed natural killer cell large granular lymphocytes (NK-LGL) in the bone marrow and peripheral blood during gilteritinib treatment. Case: A 79-year-old Japanese female had been diagnosed with FLT3-ITD-mutated AML. The patient received hydroxycarbamide 2000 mg daily for induction chemotherapy but did not achieve remission at day 28 postinduction. The treatment was then changed to gilteritinib 120 mg daily. Although the reduction of blasts in peripheral blood occurred immediately, it was revealed abnormal lymphocytes with large granules developed in bone marrow and peripheral blood. These lymphocytes were analyzed by flow cytometry, which revealed that these cells were NK-LGL because they expressed CD2, CD7, CD16, and CD56 and did not express CD3, CD19, and CD20. The patient achieved partial remission (PR) in a month with gilteritinib treatment. Leukemia eventually could not be controlled, but PR persisted for about 4 months and leukemia was controlled for 4 months after progression disease (PD) with gilteritinib treatment alone. Conclusion: Gilteritinib may induce the NK-LGL. The exact mechanism and effect of LGL in patients with FLT3 mutated AML treated with gilteritinib warrants further investigation.","PeriodicalId":383932,"journal":{"name":"Reports—Medical Cases, Images, and Videos","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131384237","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}
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