Pub Date : 2020-05-01DOI: 10.1097/PCR.0000000000000376
James Long, J. Moncur
Abstract Adenosquamous carcinoma of the prostate is an exceedingly rare and aggressive histologic variant of prostate cancer, which is composed of glandular and squamous components. Up to two-thirds of these cases are identified in patients with a history of adenocarcinoma after treatment with androgen deprivation therapy or radiation therapy; however, multiple cases have been reported arising de novo. Patients frequently present with obstructive urinary complaints and bony osteolytic metastases. Serum prostate-specific antigen is usually normal or slightly elevated. We describe a rare case of de novo metastatic adenosquamous carcinoma in a patient presenting with a markedly elevated serum prostate-specific antigen and multiple osteoblastic lesions. The prognosis for patients with adenosquamous carcinoma of the prostate has historically been dismal, with death occurring within 12 to 24 months of diagnosis.
{"title":"Adenosquamous Carcinoma of the Prostate: A Unique Presentation of a Rare Entity and Review of the Literature","authors":"James Long, J. Moncur","doi":"10.1097/PCR.0000000000000376","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000376","url":null,"abstract":"Abstract Adenosquamous carcinoma of the prostate is an exceedingly rare and aggressive histologic variant of prostate cancer, which is composed of glandular and squamous components. Up to two-thirds of these cases are identified in patients with a history of adenocarcinoma after treatment with androgen deprivation therapy or radiation therapy; however, multiple cases have been reported arising de novo. Patients frequently present with obstructive urinary complaints and bony osteolytic metastases. Serum prostate-specific antigen is usually normal or slightly elevated. We describe a rare case of de novo metastatic adenosquamous carcinoma in a patient presenting with a markedly elevated serum prostate-specific antigen and multiple osteoblastic lesions. The prognosis for patients with adenosquamous carcinoma of the prostate has historically been dismal, with death occurring within 12 to 24 months of diagnosis.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87359625","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 : 2020-05-01DOI: 10.1097/PCR.0000000000000383
T. Legesse, I. Sesterhenn, A. Paulk
Abstract Pigmented lesions of the prostate are very rare and include melanosis, blue nevus, and malignant melanoma. Of these lesions, blue nevus (also known as pigmented melanocytosis or pigmentary nevohyperplasia) is the most frequently reported one. It is morphologically similar to its much more common cutaneous counterpart and composed mainly of heavily pigmented spindle cells within the prostatic stroma. It is often discovered incidentally in needle biopsies, transurethral resection of the prostate, or prostatectomy specimens performed for prostatic cancer or benign prostatic hyperplasia. It is a benign lesion with no potential for malignant transformation. Recognition of this entity is important because of the differential diagnosis with the much rarer malignant melanoma involving the prostate. The pathologic features and differential diagnosis with relevant literature review are discussed in this report.
{"title":"Blue Nevus of the Prostate: A Report of Two Cases and Review of the Literature","authors":"T. Legesse, I. Sesterhenn, A. Paulk","doi":"10.1097/PCR.0000000000000383","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000383","url":null,"abstract":"Abstract Pigmented lesions of the prostate are very rare and include melanosis, blue nevus, and malignant melanoma. Of these lesions, blue nevus (also known as pigmented melanocytosis or pigmentary nevohyperplasia) is the most frequently reported one. It is morphologically similar to its much more common cutaneous counterpart and composed mainly of heavily pigmented spindle cells within the prostatic stroma. It is often discovered incidentally in needle biopsies, transurethral resection of the prostate, or prostatectomy specimens performed for prostatic cancer or benign prostatic hyperplasia. It is a benign lesion with no potential for malignant transformation. Recognition of this entity is important because of the differential diagnosis with the much rarer malignant melanoma involving the prostate. The pathologic features and differential diagnosis with relevant literature review are discussed in this report.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81422929","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 : 2020-05-01DOI: 10.1097/PCR.0000000000000378
A. Paulk, I. McCool, I. Sesterhenn, A. Burke
Abstract Prostatic carcinoma with aberrant expression of p63 is a rare variant of prostate cancer, which represents a potential diagnostic pitfall, as it may be easily confused with either benign prostatic glands or high-grade prostatic carcinoma. In studies of radical prostatectomies, these tumors appear to behave like low-grade carcinomas despite frequent poorly formed architecture. We report a case of prostatic carcinoma with aberrant expression of p63 with a review of the literature and helpful features in the differential diagnosis of this entity.
{"title":"Prostatic Carcinoma With Aberrant Expression of p63: A Case Report and Review of the Literature","authors":"A. Paulk, I. McCool, I. Sesterhenn, A. Burke","doi":"10.1097/PCR.0000000000000378","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000378","url":null,"abstract":"Abstract Prostatic carcinoma with aberrant expression of p63 is a rare variant of prostate cancer, which represents a potential diagnostic pitfall, as it may be easily confused with either benign prostatic glands or high-grade prostatic carcinoma. In studies of radical prostatectomies, these tumors appear to behave like low-grade carcinomas despite frequent poorly formed architecture. We report a case of prostatic carcinoma with aberrant expression of p63 with a review of the literature and helpful features in the differential diagnosis of this entity.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78146522","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 : 2020-05-01DOI: 10.1097/PCR.0000000000000380
I. Samarska, M. V. D. van den Hout, Xiaofei Li, J. V. van Roermund, T. Marcelissen, I. Vanden Bempt, R. Sciot, A. Hausen
Abstract Primary rhabdomyosarcoma (RMS) of the adult prostate is a very rare tumor with only 45 cases published to date. The clinical course of RMS of the prostate is very aggressive, and prognosis is very poor. Here we describe two cases of primary RMS of the prostate of adult patients and discuss the differential diagnosis of RMS with other mesenchymal tumors of prostate. The first patient was a 50-year-old man who clinically presented with urinary retention and hematuria, low serum prostate-specific antigen, moderate prostatomegaly, and multiple metastases as shown by computed tomography. Histological examination revealed a diffuse “small round blue cell” proliferation with an intermingled population of larger cells with rhabdomyoblastic differentiation that showed immunoreactivity for desmin and MYF4 (myogenin). Molecular and cytogenetic studies did not reveal recurrent chromosomal translocations associated with RMSs and other sarcomas. The patient underwent doxorubicin (adriamycin) treatment without disease progression during the whole follow-up period of 7 months. The second patient was a 39-year-old man who presented with urinary retention, an increased serum prostate-specific antigen level, extensive prostatomegaly, enlarged abdominal and inguinal lymph nodes, and skeletal metastases. Histological examination revealed a tumoral proliferation with a small round blue aspect and diffuse immunoreactivity for desmin and MYF4 (myogenin). Fluorescence in situ hybridization revealed a FOXO1 translocation, consistent with a diagnosis of alveolar-type RMS. The patient followed a multimodal treatment and died of the disease after its progression.
{"title":"Rhabdomyosarcoma of the Adult Prostate: Two Cases With Molecular and Cytogenetic Analyses","authors":"I. Samarska, M. V. D. van den Hout, Xiaofei Li, J. V. van Roermund, T. Marcelissen, I. Vanden Bempt, R. Sciot, A. Hausen","doi":"10.1097/PCR.0000000000000380","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000380","url":null,"abstract":"Abstract Primary rhabdomyosarcoma (RMS) of the adult prostate is a very rare tumor with only 45 cases published to date. The clinical course of RMS of the prostate is very aggressive, and prognosis is very poor. Here we describe two cases of primary RMS of the prostate of adult patients and discuss the differential diagnosis of RMS with other mesenchymal tumors of prostate. The first patient was a 50-year-old man who clinically presented with urinary retention and hematuria, low serum prostate-specific antigen, moderate prostatomegaly, and multiple metastases as shown by computed tomography. Histological examination revealed a diffuse “small round blue cell” proliferation with an intermingled population of larger cells with rhabdomyoblastic differentiation that showed immunoreactivity for desmin and MYF4 (myogenin). Molecular and cytogenetic studies did not reveal recurrent chromosomal translocations associated with RMSs and other sarcomas. The patient underwent doxorubicin (adriamycin) treatment without disease progression during the whole follow-up period of 7 months. The second patient was a 39-year-old man who presented with urinary retention, an increased serum prostate-specific antigen level, extensive prostatomegaly, enlarged abdominal and inguinal lymph nodes, and skeletal metastases. Histological examination revealed a tumoral proliferation with a small round blue aspect and diffuse immunoreactivity for desmin and MYF4 (myogenin). Fluorescence in situ hybridization revealed a FOXO1 translocation, consistent with a diagnosis of alveolar-type RMS. The patient followed a multimodal treatment and died of the disease after its progression.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84798454","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 : 2020-05-01DOI: 10.1097/PCR.0000000000000381
David Yang, Yue Sun
Abstract In the United States, prostatic adenocarcinoma is the most common nonskin cancer and second leading cause of cancer death. Pathologic diagnostics are paramount to guiding treatment but require an awareness that hormonal treatments have the capacity to alter the histological appearance of prostate cancer. This case highlights the importance of accurate diagnostics and grading through a discussion of histological findings in an unusual case of a male patient with hypogonadism on long-term exogenous testosterone who was diagnosed with prostatic adenocarcinoma.
{"title":"Histopathologic Changes in a Hypogonadal Male on Exogenous Testosterone Diagnosed With Prostatic Adenocarcinoma: A Case Report","authors":"David Yang, Yue Sun","doi":"10.1097/PCR.0000000000000381","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000381","url":null,"abstract":"Abstract In the United States, prostatic adenocarcinoma is the most common nonskin cancer and second leading cause of cancer death. Pathologic diagnostics are paramount to guiding treatment but require an awareness that hormonal treatments have the capacity to alter the histological appearance of prostate cancer. This case highlights the importance of accurate diagnostics and grading through a discussion of histological findings in an unusual case of a male patient with hypogonadism on long-term exogenous testosterone who was diagnosed with prostatic adenocarcinoma.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91276019","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 : 2020-05-01DOI: 10.1097/PCR.0000000000000354
D. Russell, Salvatore E. Mignano
Abstract Metastatic or locally advanced prostate cancer in a majority of men recurs within two to three years. The literature contains ample evidence that locally advanced and metastatic prostate cancers are associated with increased neuroendocrine expressing tumor cells, as is castration resistance. Usual (acinar) prostatic adenocarcinoma with neuroendocrine features is a high-grade malignant acinar tumor with neuroendocrine expression, which can be mistaken for neuroendocrine carcinoma, in particular large cell neuroendocrine carcinoma. We present a case of metastatic acinar prostatic adenocarcinoma with neuroendocrine features with strong and diffuse synaptophysin expression, mimicking a metastatic neuroendocrine tumor. We review recognized prostatic neuroendocrine tumors, tumors with neuroendocrine differentiation requiring further investigation, relevant differential considerations, and recommended ancillary workup of challenging cases.
{"title":"Diffuse Synaptophysin Expression in Aggressive Recurrent Castration-Resistant Acinar (Usual) Prostate Cancer: Case Report and Review of Prostatic Neuroendocrine Tumors","authors":"D. Russell, Salvatore E. Mignano","doi":"10.1097/PCR.0000000000000354","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000354","url":null,"abstract":"Abstract Metastatic or locally advanced prostate cancer in a majority of men recurs within two to three years. The literature contains ample evidence that locally advanced and metastatic prostate cancers are associated with increased neuroendocrine expressing tumor cells, as is castration resistance. Usual (acinar) prostatic adenocarcinoma with neuroendocrine features is a high-grade malignant acinar tumor with neuroendocrine expression, which can be mistaken for neuroendocrine carcinoma, in particular large cell neuroendocrine carcinoma. We present a case of metastatic acinar prostatic adenocarcinoma with neuroendocrine features with strong and diffuse synaptophysin expression, mimicking a metastatic neuroendocrine tumor. We review recognized prostatic neuroendocrine tumors, tumors with neuroendocrine differentiation requiring further investigation, relevant differential considerations, and recommended ancillary workup of challenging cases.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88351212","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 : 2020-03-01DOI: 10.1097/PCR.0000000000000287
J. Vella, Michael P. Thomas, Ruchira Singh, A. Shaaban
Abstract Phyllodes tumor of the vulva is a rare tumor and is histologically similar to phyllodes tumor of the breast. Morphological and immunohistochemical features of a case are presented here.
{"title":"Case Report: Benign Phyllodes Tumor of the Vulva","authors":"J. Vella, Michael P. Thomas, Ruchira Singh, A. Shaaban","doi":"10.1097/PCR.0000000000000287","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000287","url":null,"abstract":"Abstract Phyllodes tumor of the vulva is a rare tumor and is histologically similar to phyllodes tumor of the breast. Morphological and immunohistochemical features of a case are presented here.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77246091","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 : 2020-03-01DOI: 10.1097/PCR.0000000000000373
N. Hardy, Janina Markidan, P. Luethy, H. Ames
Abstract A new, single, ring-enhancing lesion in the cortex of an immunocompetent individual has a broad differential diagnosis, although primary or metastatic malignancies are usually highest on the list. The presence of inflammation without overt malignancy, however, is cause for considerations that may require ancillary testing with fresh tissue and obtaining multiple frozen samples. Central nervous system (CNS) infection with blastomycosis is a rare but potentially fatal complication, with a mortality rate approaching 20% secondary to multiple factors including delay in presentation and diagnosis (Clin Infect Dis 2010;50:797–804). What makes CNS blastomycosis so difficult to diagnose, along with other rare fungal infections, is that it can masquerade as a primary neural tumor. Infectious etiologies should always be considered in ring-enhancing lesions that show inflammation, necrosis, and no significant glial atypia on frozen section. Here we describe a case in an otherwise healthy woman, who presented with seizures and was found to have a peripherally enhancing intraparenchymal lesion on imaging. Differential diagnosis, frozen-section management, histology, and microbiology in the workup of CNS blastomycosis are discussed.
{"title":"When the Horse Has Stripes: Central Nervous System Blastomycosis Presenting as a Ring-Enhancing Lesion in an Immunocompetent Patient","authors":"N. Hardy, Janina Markidan, P. Luethy, H. Ames","doi":"10.1097/PCR.0000000000000373","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000373","url":null,"abstract":"Abstract A new, single, ring-enhancing lesion in the cortex of an immunocompetent individual has a broad differential diagnosis, although primary or metastatic malignancies are usually highest on the list. The presence of inflammation without overt malignancy, however, is cause for considerations that may require ancillary testing with fresh tissue and obtaining multiple frozen samples. Central nervous system (CNS) infection with blastomycosis is a rare but potentially fatal complication, with a mortality rate approaching 20% secondary to multiple factors including delay in presentation and diagnosis (Clin Infect Dis 2010;50:797–804). What makes CNS blastomycosis so difficult to diagnose, along with other rare fungal infections, is that it can masquerade as a primary neural tumor. Infectious etiologies should always be considered in ring-enhancing lesions that show inflammation, necrosis, and no significant glial atypia on frozen section. Here we describe a case in an otherwise healthy woman, who presented with seizures and was found to have a peripherally enhancing intraparenchymal lesion on imaging. Differential diagnosis, frozen-section management, histology, and microbiology in the workup of CNS blastomycosis are discussed.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84296848","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 : 2020-03-01DOI: 10.1097/PCR.0000000000000372
Rosanna Drake, H. Ames
Abstract Primitive embryonal tumors of the central nervous system have undergone considerable evolution in their categorization in the past century—most rapidly in the past decade with the application of molecular pathology in diagnosis. This presents numerous practical considerations when encountering one of these tumors. One may need to utilize multiple techniques to come to a prognostically accurate and actionable diagnosis. We review two cases, both with the final diagnosis of “medulloblastoma, SHH activated and TP53 wild type (World Health Organization grade IV).” These diagnoses were each arrived upon using separate, valid approaches, with consideration of the histological differential diagnosis. Immunohistochemistry, next-generation sequencing, and methylation array analysis are each presented with practical considerations of when they are most useful.
{"title":"The Tale of Two Hedgehogs: Central Nervous System Embryonal Tumor Diagnosis in 3 Acts","authors":"Rosanna Drake, H. Ames","doi":"10.1097/PCR.0000000000000372","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000372","url":null,"abstract":"Abstract Primitive embryonal tumors of the central nervous system have undergone considerable evolution in their categorization in the past century—most rapidly in the past decade with the application of molecular pathology in diagnosis. This presents numerous practical considerations when encountering one of these tumors. One may need to utilize multiple techniques to come to a prognostically accurate and actionable diagnosis. We review two cases, both with the final diagnosis of “medulloblastoma, SHH activated and TP53 wild type (World Health Organization grade IV).” These diagnoses were each arrived upon using separate, valid approaches, with consideration of the histological differential diagnosis. Immunohistochemistry, next-generation sequencing, and methylation array analysis are each presented with practical considerations of when they are most useful.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90010257","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 : 2020-03-01DOI: 10.1097/PCR.0000000000000366
T. G. Baker, M. T. Smith
Abstract Medulloblastoma is a high-grade embryonal tumor of the central nervous system arising in the infratentorium of patients of all ages with a peak incidence in childhood. Within the last decade, advances in molecular profiling of gene expression and epigenetics have advanced general understanding of previously perceived intertumoral heterogeneity. Currently, 4 subtypes of medulloblastoma are recognized: wingless (WNT)–activated, sonic hedgehog (SHH)–activated, and the non-WNT/non-SHH group, which combines groups 3 and 4. The new subgroups, which continue to evolve, have greatly complicated the process of rendering a pathologic diagnosis through integration of histopathologic and molecular data. The criterion-standard techniques for identifying these subgroups include gene expression and methylation profiling; however, such complicated and expensive laboratory techniques may not be accessible to all laboratories. Although recommendations for the approach to an integrated diagnosis have been made, no specific algorithm has been put forth. We present a case of pediatric medulloblastoma in which hematoxylin-eosin–stained tissue sections, reticulin special stain, immunohistochemistry, cytogenetics, and next-generation sequencing were implemented for the purpose of identifying subgroup and other markers of prognosis, such as TP53 mutation and MYC family member amplification. The discussion herein is aimed at reviewing current opinions on the integration of histomorphologic and molecular subgroups of medulloblastoma and providing a foundation for designing a practical and clinically meaningful approach to diagnosis.
{"title":"A Posterior Fossa Mass in a 6-Year-Old","authors":"T. G. Baker, M. T. Smith","doi":"10.1097/PCR.0000000000000366","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000366","url":null,"abstract":"Abstract Medulloblastoma is a high-grade embryonal tumor of the central nervous system arising in the infratentorium of patients of all ages with a peak incidence in childhood. Within the last decade, advances in molecular profiling of gene expression and epigenetics have advanced general understanding of previously perceived intertumoral heterogeneity. Currently, 4 subtypes of medulloblastoma are recognized: wingless (WNT)–activated, sonic hedgehog (SHH)–activated, and the non-WNT/non-SHH group, which combines groups 3 and 4. The new subgroups, which continue to evolve, have greatly complicated the process of rendering a pathologic diagnosis through integration of histopathologic and molecular data. The criterion-standard techniques for identifying these subgroups include gene expression and methylation profiling; however, such complicated and expensive laboratory techniques may not be accessible to all laboratories. Although recommendations for the approach to an integrated diagnosis have been made, no specific algorithm has been put forth. We present a case of pediatric medulloblastoma in which hematoxylin-eosin–stained tissue sections, reticulin special stain, immunohistochemistry, cytogenetics, and next-generation sequencing were implemented for the purpose of identifying subgroup and other markers of prognosis, such as TP53 mutation and MYC family member amplification. The discussion herein is aimed at reviewing current opinions on the integration of histomorphologic and molecular subgroups of medulloblastoma and providing a foundation for designing a practical and clinically meaningful approach to diagnosis.","PeriodicalId":72144,"journal":{"name":"AJSP: reviews & reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74897311","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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