Pub Date : 2021-07-01DOI: 10.1097/PCR.0000000000000456
Sarah E Gradecki, Sarah Kelting, E. Stelow
Abstract SMARCB1 (INI1)–deficient sinonasal carcinoma is a recently described primary neoplasm of the sinonasal tract that occurs infrequently and displays aggressive clinical behavior. Classic histopathologic findings of INI1-deficient sinonasal carcinoma include sheets and nests of basaloid tumors cells with a monomorphic appearance. Variable amounts of rhabdoid and glandular differentiation have been reported. Diagnosis of this lesion can be challenging because of significant morphologic and immunohistochemical overlap between other primary lesions of the sinonasal tract, including basaloid and other nonkeratinizing squamous cell carcinomas, sinonasal undifferentiated carcinoma, and the newly described BRG1-deficient sinonasal carcinoma, among others. Recently, yolk sac tumor (YST)–like differentiation has been described in multiple reports of INI1-deficient sinonasal carcinoma, which expands both the histologic spectrum of this lesion and its differential diagnosis. Although there is significant immunophenotypic overlap between primary YST and INI1-deficient sinonasal carcinoma with YST differentiation, loss of INI1 expression by immunohistochemistry is not seen in YST. INI1 immunohistochemistry is a sensitive and specific marker for identifying INI1-deficient sinonasal carcinoma, and pathologists should have a low threshold for performing this test on tumors with a myriad of histologic features.
{"title":"SMARCB1 (INI1)–Deficient Sinonasal Carcinoma With Yolk Sac Tumor Differentiation: Case Report and Review of the Literature","authors":"Sarah E Gradecki, Sarah Kelting, E. Stelow","doi":"10.1097/PCR.0000000000000456","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000456","url":null,"abstract":"Abstract SMARCB1 (INI1)–deficient sinonasal carcinoma is a recently described primary neoplasm of the sinonasal tract that occurs infrequently and displays aggressive clinical behavior. Classic histopathologic findings of INI1-deficient sinonasal carcinoma include sheets and nests of basaloid tumors cells with a monomorphic appearance. Variable amounts of rhabdoid and glandular differentiation have been reported. Diagnosis of this lesion can be challenging because of significant morphologic and immunohistochemical overlap between other primary lesions of the sinonasal tract, including basaloid and other nonkeratinizing squamous cell carcinomas, sinonasal undifferentiated carcinoma, and the newly described BRG1-deficient sinonasal carcinoma, among others. Recently, yolk sac tumor (YST)–like differentiation has been described in multiple reports of INI1-deficient sinonasal carcinoma, which expands both the histologic spectrum of this lesion and its differential diagnosis. Although there is significant immunophenotypic overlap between primary YST and INI1-deficient sinonasal carcinoma with YST differentiation, loss of INI1 expression by immunohistochemistry is not seen in YST. INI1 immunohistochemistry is a sensitive and specific marker for identifying INI1-deficient sinonasal carcinoma, and pathologists should have a low threshold for performing this test on tumors with a myriad of histologic features.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":"9 1","pages":"259 - 263"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81640739","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}
Pub Date : 2021-03-05DOI: 10.1097/PCR.0000000000000435
J. Hooper
Abstract Each rapid autopsy is a powerful opportunity to supply multiple researchers with many valuable tissue specimens at the same time. Since the beginning of the development of rapid autopsy, the overriding organizing principle for all rapid autopsy programs has been that the samples or organs must be removed and processed as rapidly as possible. To accomplish this, some rapid autopsy programs are focused on only 1 tumor type, whereas others accept patients demonstrating all tumor types and sometimes other diseases as well. Rapid autopsy programs are logistically complicated and labor-intensive structures; therefore, the key to their success is program flexibility and maintaining a multidisciplinary focus. The necessary collaborations in the complex relationships between clinicians and researchers can be broken down into a series of thought and action steps that must be understood, accepted, and practiced by all participants. A crucial part of the precase steps (prior to death) for a rapid autopsy is the study consenting process. It is extremely important that this individualized consent is obtained for postmortem specimens and that it is written in terms general enough to be used for patients with all types of diseases and for an appropriate range of future research uses. The advent of SARS-CoV-2/COVID-19 (severe acute respiratory syndrome coronavirus 2/coronavirus disease 2019) has presented new challenges and opportunities to the field of autopsy pathology. Guidelines and practice had to be created and adapted to protect physicians and staff while maximizing diagnostic yield. However, any autopsy performed on a patient dying of or with COVID-19 represents a unique opportunity to contribute to understanding the disease mechanisms and to improve death certification, thus assisting in both clinical care and the development of health public policy.
{"title":"Rapid Autopsy Programs and Research Support: The Pre– and Post–COVID-19 Environments","authors":"J. Hooper","doi":"10.1097/PCR.0000000000000435","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000435","url":null,"abstract":"Abstract Each rapid autopsy is a powerful opportunity to supply multiple researchers with many valuable tissue specimens at the same time. Since the beginning of the development of rapid autopsy, the overriding organizing principle for all rapid autopsy programs has been that the samples or organs must be removed and processed as rapidly as possible. To accomplish this, some rapid autopsy programs are focused on only 1 tumor type, whereas others accept patients demonstrating all tumor types and sometimes other diseases as well. Rapid autopsy programs are logistically complicated and labor-intensive structures; therefore, the key to their success is program flexibility and maintaining a multidisciplinary focus. The necessary collaborations in the complex relationships between clinicians and researchers can be broken down into a series of thought and action steps that must be understood, accepted, and practiced by all participants. A crucial part of the precase steps (prior to death) for a rapid autopsy is the study consenting process. It is extremely important that this individualized consent is obtained for postmortem specimens and that it is written in terms general enough to be used for patients with all types of diseases and for an appropriate range of future research uses. The advent of SARS-CoV-2/COVID-19 (severe acute respiratory syndrome coronavirus 2/coronavirus disease 2019) has presented new challenges and opportunities to the field of autopsy pathology. Guidelines and practice had to be created and adapted to protect physicians and staff while maximizing diagnostic yield. However, any autopsy performed on a patient dying of or with COVID-19 represents a unique opportunity to contribute to understanding the disease mechanisms and to improve death certification, thus assisting in both clinical care and the development of health public policy.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":"12 1","pages":"100 - 107"},"PeriodicalIF":0.0,"publicationDate":"2021-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84850077","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}
Each rapid autopsy is a powerful opportunity to supply multiple researchers with many valuable tissue specimens at the same time. Since the beginning of the development of rapid autopsy, the overriding organizing principle for all RAPs has been that the samples or organs must be removed and processed as rapidly as possible. To accomplish this some rapid autopsy programs are focused just on one tumor type, while others accept patients demonstrating all tumor types and sometimes other diseases as well. RAPs are logistically complicated and labor-intensive structures, therefore, the key to their success is program flexibility and maintaining a multidisciplinary focus. The necessary collaborations in the complex relationships between clinicians and researchers can be broken down into a series of thought and action steps that must be understood, accepted, and practiced by all participants. A crucial part of the pre-case steps (prior to death) for a rapid autopsy is the study consenting process. It is extremely important that this individualized consent is obtained for postmortem specimens and that it is written in general enough terms to be used for patients with all types of diseases and for an appropriate range of future research uses. The advent of Sars-CoV-2/COVID-19 has presented new challenges and opportunities to the field of autopsy pathology. Guidelines and practice had to be created and adapted to protect physicians and staff while maximizing diagnostic yield. However, any autopsy performed on a patient dying of or with COVID-19 represents a unique opportunity to contribute to understanding of disease mechanisms and to improve death certification, thus assisting in both clinical care and the development of health public policy.
{"title":"Rapid Autopsy Programs and Research Support: The Pre- and Post-COVID-19 Environments.","authors":"Jody E Hooper","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Each rapid autopsy is a powerful opportunity to supply multiple researchers with many valuable tissue specimens at the same time. Since the beginning of the development of rapid autopsy, the overriding organizing principle for all RAPs has been that the samples or organs must be removed and processed as rapidly as possible. To accomplish this some rapid autopsy programs are focused just on one tumor type, while others accept patients demonstrating all tumor types and sometimes other diseases as well. RAPs are logistically complicated and labor-intensive structures, therefore, the key to their success is program flexibility and maintaining a multidisciplinary focus. The necessary collaborations in the complex relationships between clinicians and researchers can be broken down into a series of thought and action steps that must be understood, accepted, and practiced by all participants. A crucial part of the pre-case steps (prior to death) for a rapid autopsy is the study consenting process. It is extremely important that this individualized consent is obtained for postmortem specimens and that it is written in general enough terms to be used for patients with all types of diseases and for an appropriate range of future research uses. The advent of Sars-CoV-2/COVID-19 has presented new challenges and opportunities to the field of autopsy pathology. Guidelines and practice had to be created and adapted to protect physicians and staff while maximizing diagnostic yield. However, any autopsy performed on a patient dying of or with COVID-19 represents a unique opportunity to contribute to understanding of disease mechanisms and to improve death certification, thus assisting in both clinical care and the development of health public policy.</p>","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":"26 2","pages":"100-107"},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7954201/pdf/nihms-1664369.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25487792","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 : 2021-03-01DOI: 10.1097/PCR.0000000000000440
A. Wiles
Abstract Arguments in defense of the medical autopsy tend to be grounded in quantitative ideas of utility. As such, these defenses limit their techniques and core concepts to the same principles that ground the practice of contemporary medicine. While this tactic seems reasonable, as arguments should always be cognizant of the context for which they are intended, the practice of medical autopsy continues to decline. The conceptual framework of the practice of medicine itself plays a role in the decline of the autopsy. It is difficult to imagine stopping or reversing the effacement of the medical autopsy without overcoming this framework. This review examines the genealogy of arguments about the importance of medical autopsy and develops some new conceptual tools to defend it. Three related notions are explored. Each of these goes beyond the customary, and often unexamined, types of argumentation in contemporary medicine. This review seeks to answer the question: What if the autopsy was gone? What would an autopsy of the practice of autopsy itself reveal?
{"title":"The End","authors":"A. Wiles","doi":"10.1097/PCR.0000000000000440","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000440","url":null,"abstract":"Abstract Arguments in defense of the medical autopsy tend to be grounded in quantitative ideas of utility. As such, these defenses limit their techniques and core concepts to the same principles that ground the practice of contemporary medicine. While this tactic seems reasonable, as arguments should always be cognizant of the context for which they are intended, the practice of medical autopsy continues to decline. The conceptual framework of the practice of medicine itself plays a role in the decline of the autopsy. It is difficult to imagine stopping or reversing the effacement of the medical autopsy without overcoming this framework. This review examines the genealogy of arguments about the importance of medical autopsy and develops some new conceptual tools to defend it. Three related notions are explored. Each of these goes beyond the customary, and often unexamined, types of argumentation in contemporary medicine. This review seeks to answer the question: What if the autopsy was gone? What would an autopsy of the practice of autopsy itself reveal?","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":"112 1","pages":"145 - 151"},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80649350","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}
Pub Date : 2021-03-01DOI: 10.1097/PCR.0000000000000434
Erin G. Brooks
Abstract At autopsy, prosectors have always risked exposure to a wide array of infectious agents. With the recent advent of the SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) pandemic, such exposure concerns have increased dramatically. Careful assessment of facility infrastructure and appropriate biosafety training, however, can minimize risks and allow for safe autopsy performance. As with other disease outbreaks, the living have much to learn from the dead. To date, autopsy studies have been critical in elucidating the mechanisms by which COVID-19 (coronavirus disease 2019) may critically compromise not only pulmonary but also cerebral, cardiac, and renal function. Much remains unknown, though, and further tissue-based research is called for. The following review is intended to detail best practices and principles for autopsy biosafety, with a focus on issues specific to the current pandemic.
{"title":"Pandemic Autopsy Biosafety Considerations","authors":"Erin G. Brooks","doi":"10.1097/PCR.0000000000000434","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000434","url":null,"abstract":"Abstract At autopsy, prosectors have always risked exposure to a wide array of infectious agents. With the recent advent of the SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) pandemic, such exposure concerns have increased dramatically. Careful assessment of facility infrastructure and appropriate biosafety training, however, can minimize risks and allow for safe autopsy performance. As with other disease outbreaks, the living have much to learn from the dead. To date, autopsy studies have been critical in elucidating the mechanisms by which COVID-19 (coronavirus disease 2019) may critically compromise not only pulmonary but also cerebral, cardiac, and renal function. Much remains unknown, though, and further tissue-based research is called for. The following review is intended to detail best practices and principles for autopsy biosafety, with a focus on issues specific to the current pandemic.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":"16 1","pages":"93 - 99"},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83382681","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}
Pub Date : 2021-01-25DOI: 10.1097/PCR.0000000000000412
L. Mahapatra, M. Mansour, D. Chatterjee, R. Fields, H. Maluf, L. Dehner
Abstract We report a case of a neuroendocrine carcinoma of the inguinal lymph node without a known identified primary site, which demonstrated the morphologic and immunophenotypic features of a Merkel cell carcinoma with neuroblastic differentiation. The neoplasm had a predominant high-grade neuroendocrine component with small cell features and a contiguous area with lobular foci of neuroblastic rosettes and fibrillary neuropil. Merkel cell carcinoma can occasionally demonstrate aberrant differentiation to other epithelial and nonepithelial cell lines, and this case is only the fourth in the available literature with neuroblastic differentiation. It is necessary to exclude a primary site of origin, but a few cases of primary neuroendocrine tumor of the lymph node have been described, with the inguinal region as the most common site of occurrence.
{"title":"Nodal Merkel Cell Carcinoma With Neuroblastoma Differentiation: A Case Report and Review of the Literature","authors":"L. Mahapatra, M. Mansour, D. Chatterjee, R. Fields, H. Maluf, L. Dehner","doi":"10.1097/PCR.0000000000000412","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000412","url":null,"abstract":"Abstract We report a case of a neuroendocrine carcinoma of the inguinal lymph node without a known identified primary site, which demonstrated the morphologic and immunophenotypic features of a Merkel cell carcinoma with neuroblastic differentiation. The neoplasm had a predominant high-grade neuroendocrine component with small cell features and a contiguous area with lobular foci of neuroblastic rosettes and fibrillary neuropil. Merkel cell carcinoma can occasionally demonstrate aberrant differentiation to other epithelial and nonepithelial cell lines, and this case is only the fourth in the available literature with neuroblastic differentiation. It is necessary to exclude a primary site of origin, but a few cases of primary neuroendocrine tumor of the lymph node have been described, with the inguinal region as the most common site of occurrence.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":"1 1","pages":"e6 - e9"},"PeriodicalIF":0.0,"publicationDate":"2021-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85964252","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}
Pub Date : 2021-01-01DOI: 10.1097/PCR.0000000000000436
W. Humphrey, S. Mount
Abstract Training in autopsy encompasses the acquisition of skills and knowledge beyond the Y-shaped incision. In addition to learning basic tissue examination and processing skills, the autopsy service provides education in teamwork, professionalism and leadership, communication, public health, research, and self-reflection. Regardless of future specialization or practice setting, education provided by the autopsy has the potential to influence both the professional and personal lives of the trainees. Despite widespread agreement that autopsy education improves patient care, challenges to building and maintaining a dynamic and educational autopsy service exist and include factors that are both intrinsic and extrinsic to the practice of autopsy itself. Challenges including adequate volume of cases, knowledge of the procedure and skill in obtaining consent for autopsies, inclusion of an autopsy experience in medical school curriculums, competition for resident time, lack of subspecialists such as pediatric/perinatal and cardiac pathologists, and political action to gain support from regulatory bodies are addressed. Finally, we explore the way forward in autopsy education. Solutions such as the standardization of the educational autopsy, valuing the quality of competence over quantity of cases, and benefits of the Office of Decedent Affairs are discussed. By rededicating ourselves to the education of trainees via experiences on the autopsy service, we empower them to harness the many opportunities offered by the postmortem examination and ensure autopsy's seat at the table in 21st-century medicine.
{"title":"Education in Autopsy: More Than the Y-Shaped Incision: Entrusting Trainees for the Future","authors":"W. Humphrey, S. Mount","doi":"10.1097/PCR.0000000000000436","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000436","url":null,"abstract":"Abstract Training in autopsy encompasses the acquisition of skills and knowledge beyond the Y-shaped incision. In addition to learning basic tissue examination and processing skills, the autopsy service provides education in teamwork, professionalism and leadership, communication, public health, research, and self-reflection. Regardless of future specialization or practice setting, education provided by the autopsy has the potential to influence both the professional and personal lives of the trainees. Despite widespread agreement that autopsy education improves patient care, challenges to building and maintaining a dynamic and educational autopsy service exist and include factors that are both intrinsic and extrinsic to the practice of autopsy itself. Challenges including adequate volume of cases, knowledge of the procedure and skill in obtaining consent for autopsies, inclusion of an autopsy experience in medical school curriculums, competition for resident time, lack of subspecialists such as pediatric/perinatal and cardiac pathologists, and political action to gain support from regulatory bodies are addressed. Finally, we explore the way forward in autopsy education. Solutions such as the standardization of the educational autopsy, valuing the quality of competence over quantity of cases, and benefits of the Office of Decedent Affairs are discussed. By rededicating ourselves to the education of trainees via experiences on the autopsy service, we empower them to harness the many opportunities offered by the postmortem examination and ensure autopsy's seat at the table in 21st-century medicine.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":"5 1","pages":"108 - 115"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82755864","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}
Pub Date : 2021-01-01DOI: 10.1097/PCR.0000000000000424
P. Roitman, N. Cóccaro, F. Jauk, N. Rene, J. Pandolfi, A. Castiglioni
Abstract We report a case of a dedifferentiated solitary fibrous tumor (SFT) arising in the arm of a 74-year-old man, with the dedifferentiated component showing a unique retiform and papillary architecture. The patient presented with a tumor first noticed 12 years ago, which was diagnosed as a schwannoma. It remained clinically stable for about 10 years until he noticed growth of the mass 2 years ago. On comparative magnetic resonance imaging scans, while most of the tumor did not show major changes, a proximal lobule demonstrated increase in its size. After a new biopsy, which was interpreted as malignant, preoperative radiotherapy and surgical excision were performed. The surgical specimen had areas of typical SFT, with diffuse immunohistochemical expression of STAT6 and only focal CD34 and p16. The lobule that demonstrated growth showed a much more cellular, retiform/papillary proliferation, with plump atypical cells, necrosis, diffuse expression of STAT6 and p16, and complete lack of CD34 expression. With next-generation sequencing, the NAB2(3)-STAT6(18) fusion transcript was detected in both areas of the tumor. Only a few cases of SFT with papillary or retiform/papillary features were reported, most of them in the central nervous system, and none of them interpreted as a dedifferentiated SFT. To the best of our knowledge, these morphological features have not been reported in SFT of the soft tissue or in dedifferentiated SFT of any site. We think pathologists should be aware of this rare finding, which becomes particularly challenging in small biopsies or if classic areas of SFT are not found.
{"title":"A Dedifferentiated Solitary Fibrous Tumor of Soft Tissue With Retiform and Papillary Features: Report of a Case and Review of the Literature","authors":"P. Roitman, N. Cóccaro, F. Jauk, N. Rene, J. Pandolfi, A. Castiglioni","doi":"10.1097/PCR.0000000000000424","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000424","url":null,"abstract":"Abstract We report a case of a dedifferentiated solitary fibrous tumor (SFT) arising in the arm of a 74-year-old man, with the dedifferentiated component showing a unique retiform and papillary architecture. The patient presented with a tumor first noticed 12 years ago, which was diagnosed as a schwannoma. It remained clinically stable for about 10 years until he noticed growth of the mass 2 years ago. On comparative magnetic resonance imaging scans, while most of the tumor did not show major changes, a proximal lobule demonstrated increase in its size. After a new biopsy, which was interpreted as malignant, preoperative radiotherapy and surgical excision were performed. The surgical specimen had areas of typical SFT, with diffuse immunohistochemical expression of STAT6 and only focal CD34 and p16. The lobule that demonstrated growth showed a much more cellular, retiform/papillary proliferation, with plump atypical cells, necrosis, diffuse expression of STAT6 and p16, and complete lack of CD34 expression. With next-generation sequencing, the NAB2(3)-STAT6(18) fusion transcript was detected in both areas of the tumor. Only a few cases of SFT with papillary or retiform/papillary features were reported, most of them in the central nervous system, and none of them interpreted as a dedifferentiated SFT. To the best of our knowledge, these morphological features have not been reported in SFT of the soft tissue or in dedifferentiated SFT of any site. We think pathologists should be aware of this rare finding, which becomes particularly challenging in small biopsies or if classic areas of SFT are not found.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":"38 1","pages":"38 - 44"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76722228","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}
Pub Date : 2021-01-01DOI: 10.1097/PCR.0000000000000422
A. MacMahon, Y. Chaudhry, A. James, E. McCarthy, Nicolas J. Llosa, S. Ahlawat, C. Morris
Abstract Diffuse-type tenosynovial giant cell tumor (TGCT) is a neoplasm that exhibits infiltrative growth, tends to recur locally, and is often located within a joint. We describe a challenging diagnosis and clinical course of a 14-year-old girl with malignant diffuse TGCT, highlighting the difficulty of acquiring a representative biopsy. The patient presented with a painful foot mass, which was diagnosed initially through open biopsy as chronic osteomyelitis. Because her pain persisted, additional open biopsies were performed 1 and 2.5 years after the initial biopsy, which also showed features of benign TGCT. At age 16 years, she underwent marginal resection but developed local recurrence with metastatic disease 1 year later. Core needle biopsy of the foot mass again confirmed diffuse TGCT and showed no evidence of atypical or malignant features. Malignant features were confirmed only through excisional biopsy of chest wall metastasis. The patient started chemotherapy and underwent below-the-knee amputation at age 17 years. Amputation specimen showed malignant diffuse TGCT. She died of disease progression approximately 1 year later. Metastasis of diffuse TGCT with benign histology is challenging to diagnose. Previous studies have also found that benign diffuse TGCT can transform into an aggressive, malignant tumor. This case highlights that biopsy sampling can be challenging in histologically heterogeneous tumors. Initial evaluation by a multidisciplinary team, as well as image-guided biopsy techniques, may increase diagnostic accuracy of the biopsy.
{"title":"Malignant Diffuse Tenosynovial Giant Cell Tumor: Case Report and Review of the Literature","authors":"A. MacMahon, Y. Chaudhry, A. James, E. McCarthy, Nicolas J. Llosa, S. Ahlawat, C. Morris","doi":"10.1097/PCR.0000000000000422","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000422","url":null,"abstract":"Abstract Diffuse-type tenosynovial giant cell tumor (TGCT) is a neoplasm that exhibits infiltrative growth, tends to recur locally, and is often located within a joint. We describe a challenging diagnosis and clinical course of a 14-year-old girl with malignant diffuse TGCT, highlighting the difficulty of acquiring a representative biopsy. The patient presented with a painful foot mass, which was diagnosed initially through open biopsy as chronic osteomyelitis. Because her pain persisted, additional open biopsies were performed 1 and 2.5 years after the initial biopsy, which also showed features of benign TGCT. At age 16 years, she underwent marginal resection but developed local recurrence with metastatic disease 1 year later. Core needle biopsy of the foot mass again confirmed diffuse TGCT and showed no evidence of atypical or malignant features. Malignant features were confirmed only through excisional biopsy of chest wall metastasis. The patient started chemotherapy and underwent below-the-knee amputation at age 17 years. Amputation specimen showed malignant diffuse TGCT. She died of disease progression approximately 1 year later. Metastasis of diffuse TGCT with benign histology is challenging to diagnose. Previous studies have also found that benign diffuse TGCT can transform into an aggressive, malignant tumor. This case highlights that biopsy sampling can be challenging in histologically heterogeneous tumors. Initial evaluation by a multidisciplinary team, as well as image-guided biopsy techniques, may increase diagnostic accuracy of the biopsy.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":"15 1","pages":"63 - 67"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84767354","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}
Pub Date : 2021-01-01DOI: 10.1097/PCR.0000000000000459
Wesley Mallinger, P. Read, E. Stelow
Abstract We describe 2 brothers with a history of working in the family business of whiskey barrel making who both developed sinonasal intestinal-type adenocarcinomas (ITACs) around their seventh decade of life. This highlights the strong association of ITAC with occupational wood dust exposure, and the typical development of disease occurring around the sixth to seventh decade of life. Intestinal-type adenocarcinomas show morphologic and phenotypic similarities to their primary intestinal counterparts, particularly expression of CDX2 and CK20. Despite the morphologic and phenotypic similarities, the molecular alterations that are common to many adenocarcinomas of the intestinal tract are not present in ITAC. This description highlights the wide morphologic spectrum of ITAC and the often protracted course of this disease process.
{"title":"Fraternal Coopers Develop Sinonasal Intestinal-Type Adenocarcinoma","authors":"Wesley Mallinger, P. Read, E. Stelow","doi":"10.1097/PCR.0000000000000459","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000459","url":null,"abstract":"Abstract We describe 2 brothers with a history of working in the family business of whiskey barrel making who both developed sinonasal intestinal-type adenocarcinomas (ITACs) around their seventh decade of life. This highlights the strong association of ITAC with occupational wood dust exposure, and the typical development of disease occurring around the sixth to seventh decade of life. Intestinal-type adenocarcinomas show morphologic and phenotypic similarities to their primary intestinal counterparts, particularly expression of CDX2 and CK20. Despite the morphologic and phenotypic similarities, the molecular alterations that are common to many adenocarcinomas of the intestinal tract are not present in ITAC. This description highlights the wide morphologic spectrum of ITAC and the often protracted course of this disease process.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":"24 1","pages":"252 - 255"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82752465","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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