Pub Date : 2025-05-15DOI: 10.1016/j.hpr.2025.300776
Jihuan Chen , Liz M. Yang , Jonathan Somma , Yujun Gan , Zengying Wu , Zhiyan Fu
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the gastrointestinal tract and have a high rate of recurrence and metastasis. Using an immunohistochemical (IHC) panel including KIT/CD117 and DOG1 allows for accurate diagnosis in more than 98% of cases. However, after tyrosine kinase inhibitor treatment, some cases can exhibit histologic dedifferentiation and loss of KIT/CD117 and DOG1 expression that may cause difficulty in confirming recurrent or persistent disease. We present such a case of an Imatinib treated, CD117 and DOG1 dual negative, metastatic GIST to the liver in a 55-year-old female which required molecular analysis to confirm the diagnosis. Awareness and recognition of this phenomenon is crucial for the accurate diagnosis and management of patients with GISTs.
{"title":"Diagnostic considerations for gastrointestinal stromal tumors with altered immunophenotype following Imatinib treatment: A case report and literature review","authors":"Jihuan Chen , Liz M. Yang , Jonathan Somma , Yujun Gan , Zengying Wu , Zhiyan Fu","doi":"10.1016/j.hpr.2025.300776","DOIUrl":"10.1016/j.hpr.2025.300776","url":null,"abstract":"<div><div>Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the gastrointestinal tract and have a high rate of recurrence and metastasis. Using an immunohistochemical (IHC) panel including KIT/CD117 and DOG1 allows for accurate diagnosis in more than 98% of cases. However, after tyrosine kinase inhibitor treatment, some cases can exhibit histologic dedifferentiation and loss of KIT/CD117 and DOG1 expression that may cause difficulty in confirming recurrent or persistent disease. We present such a case of an Imatinib treated, CD117 and DOG1 dual negative, metastatic GIST to the liver in a 55-year-old female which required molecular analysis to confirm the diagnosis. Awareness and recognition of this phenomenon is crucial for the accurate diagnosis and management of patients with GISTs.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"40 ","pages":"Article 300776"},"PeriodicalIF":0.0,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144069318","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 : 2025-04-29DOI: 10.1016/j.hpr.2025.300775
Sarah A. Anderson , Brooke B. Bartow , Gene P. Siegal , Shuko Harada , Ceren Yalniz , Katia Khoury , Lei Huo , Qingqing Ding , Aysegul A. Sahin , Shi Wei , Xiao Huang
Purpose
Poly (adenosine diphosphate-ribose) polymerase inhibitors (PARPi) have demonstrated antitumoral activity in cancers with a homologous recombination deficiency (HRD) and have been approved in 2018 by the U.S. Food and Drug Administration (FDA) for the treatment of germline BRCA1/2-mutation-associated breast cancer (BC). Clinical trials evaluating the combination of the immune checkpoint inhibitor (ICI) and PARPi are on-going. PD-L1-immunohistochemistry (IHC) and tumor mutation burden (TMB) are FDA approved predictive markers for ICI therapy in a subset of patients with breast cancer. We investigated the associations between these two biomarkers and HRD parameters in advanced stage BC.
Methods
Patients diagnosed with invasive BC between 2014 and 2022 whose tumors underwent a PD-L1 22C3 assay and/or comprehensive genomic profiling by NGS were identified. TMB, homologous recombination repair (HRR) gene mutations, and the loss of heterozygosity (LOH) score were collected. PD-L1 IHC and TMB were considered as markers for ICI. The BRCA1/2 gene, BRCAwt-HRR genes, and the LOH score were flagged as HRD criteria.
Results
Sixty-eight patients with locally advanced or metastatic BC were included. There were no significant difference in LOH status, BRCAwt-HRR gene mutations or BRCA1/2 mutations between PD-L1-positive and PD-L1-negative groups. The TMB score was not significantly associated with BRCAwt-HRR or BRCA1/2 gene mutations. LOH-high tumors showed a slightly higher TMB score than the LOH-low tumors.
Among the 68 patients, two received both ICIs and PARPi therapies sequentially, one had a complete response (CR) (TMB: 5 muts/Mb; BRCA1 mutated) and the other had progressive disease (BRCA VUS, variants of uncertain significance).
Conclusions
Our study failed to show significant associations between PD-L1 IHC and HRD parameters. The TMB score was positively associated with LOH-high status, but not a HRR gene mutation. Independently evaluating these markers needs to be considered to select patients for targeting therapies. Clinical outcome needs further evaluation.
{"title":"Predictive biomarkers for immune checkpoint inhibitor (ICI) and poly (ADP-ribose) polymerase (PARP) inhibitor (PARPi) in advanced-stage breast carcinoma","authors":"Sarah A. Anderson , Brooke B. Bartow , Gene P. Siegal , Shuko Harada , Ceren Yalniz , Katia Khoury , Lei Huo , Qingqing Ding , Aysegul A. Sahin , Shi Wei , Xiao Huang","doi":"10.1016/j.hpr.2025.300775","DOIUrl":"10.1016/j.hpr.2025.300775","url":null,"abstract":"<div><h3>Purpose</h3><div>Poly (adenosine diphosphate-ribose) polymerase inhibitors (PARPi) have demonstrated antitumoral activity in cancers with a homologous recombination deficiency (HRD) and have been approved in 2018 by the U.S. Food and Drug Administration (FDA) for the treatment of germline <em>BRCA1/2-</em>mutation-associated breast cancer (BC). Clinical trials evaluating the combination of the immune checkpoint inhibitor (ICI) and PARPi are on-going. PD-L1-immunohistochemistry (IHC) and tumor mutation burden (TMB) are FDA approved predictive markers for ICI therapy in a subset of patients with breast cancer. We investigated the associations between these two biomarkers and HRD parameters in advanced stage BC.</div></div><div><h3>Methods</h3><div>Patients diagnosed with invasive BC between 2014 and 2022 whose tumors underwent a PD-L1 22C3 assay and/or comprehensive genomic profiling by NGS were identified. TMB, homologous recombination repair (HRR) gene mutations, and the loss of heterozygosity (LOH) score were collected. PD-L1 IHC and TMB were considered as markers for ICI. The <em>BRCA1/2</em> gene, <em>BRCA</em>wt-HRR genes, and the LOH score were flagged as HRD criteria.</div></div><div><h3>Results</h3><div>Sixty-eight patients with locally advanced or metastatic BC were included. There were no significant difference in LOH status, <em>BRCA</em>wt-HRR gene mutations or <em>BRCA1/2</em> mutations between PD-L1-positive and PD-L1-negative groups. The TMB score was not significantly associated with <em>BRCA</em>wt-HRR or <em>BRCA1/2</em> gene mutations. LOH-high tumors showed a slightly higher TMB score than the LOH-low tumors.</div><div>Among the 68 patients, two received both ICIs and PARPi therapies sequentially, one had a complete response (CR) (TMB: 5 muts/Mb; <em>BRCA1</em> mutated) and the other had progressive disease (<em>BRCA</em> VUS, variants of uncertain significance).</div></div><div><h3>Conclusions</h3><div>Our study failed to show significant associations between PD-L1 IHC and HRD parameters. The TMB score was positively associated with LOH-high status, but not a HRR gene mutation. Independently evaluating these markers needs to be considered to select patients for targeting therapies. Clinical outcome needs further evaluation.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"40 ","pages":"Article 300775"},"PeriodicalIF":0.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143886503","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 : 2025-04-03DOI: 10.1016/j.hpr.2025.300774
Ejas Palathingal Bava , Sharon Skorupski , Edward Peres , Pegah Dejban , Qing Chang , Brian Theisen , Sanam Husain
A 36-year-old man who underwent hematopoietic stem cell transplantation (HSCT) at the age of 2 years for severe combined immunodeficiency, presented with jaundice, skin rash, and elevated liver function tests 34 years after HSCT. Liver biopsy showed bile duct injury and cholestasis. Viral studies, autoimmune panel, review of medications, and imaging did not establish a cause of liver injury. However, graft-versus-host disease (GVHD) was unlikely because of the remote history of HSCT. Short tandem repeat-polymerase chain reaction (STR-PCR) chimerism analysis showed that the percentage of donor DNA in the liver biopsy specimen was very low (11 %); hence, host-versus-graft disease (HVGD) was implicated. Because STR analysis of patient’s blood showed a mixed chimera with 11 % donor DNA, graft failure was suspected; however, fractionated STR analysis ruled out complete graft failure. Overall, this case outlines liver injury caused by HVGD in the absence of complete graft failure 34 years after HSCT, which has never been reported in the literature. STR-PCR analysis was essential for mitigating the diagnostic dilemma.
{"title":"Suspected late graft failure and graft versus host disease 34 years after hematopoietic stem cell transplantation clinically and pathologically presenting as host versus graft disease with liver injury","authors":"Ejas Palathingal Bava , Sharon Skorupski , Edward Peres , Pegah Dejban , Qing Chang , Brian Theisen , Sanam Husain","doi":"10.1016/j.hpr.2025.300774","DOIUrl":"10.1016/j.hpr.2025.300774","url":null,"abstract":"<div><div>A 36-year-old man who underwent hematopoietic stem cell transplantation (HSCT) at the age of 2 years for severe combined immunodeficiency, presented with jaundice, skin rash, and elevated liver function tests 34 years after HSCT. Liver biopsy showed bile duct injury and cholestasis. Viral studies, autoimmune panel, review of medications, and imaging did not establish a cause of liver injury. However, graft-versus-host disease <strong>(</strong>GVHD) was unlikely because of the remote history of HSCT. Short tandem repeat-polymerase chain reaction (STR-PCR) chimerism analysis showed that the percentage of donor DNA in the liver biopsy specimen was very low (11 %); hence, host-versus-graft disease (HVGD) was implicated. Because STR analysis of patient’s blood showed a mixed chimera with 11 % donor DNA, graft failure was suspected; however, fractionated STR analysis ruled out complete graft failure. Overall, this case outlines liver injury caused by HVGD in the absence of complete graft failure 34 years after HSCT, which has never been reported in the literature. STR-PCR analysis was essential for mitigating the diagnostic dilemma.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"40 ","pages":"Article 300774"},"PeriodicalIF":0.0,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143761003","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}
Sacrococcygeal teratomas (SCT) with malignant transformation to squamous cell carcinoma are extremely rare, with only few cases reported in the literature. Herein, we report on a case of a primary sacrococcygeal mature cystic teratoma with malignant transformation into a squamous cell carcinoma. A 53-year-old woman presented with dysuria and lower abdominal pain caused by a huge SCT. Computed tomography (CT), magnetic resonance imaging, and positron emission tomography/CT findings were suggestive of SCT with malignant transformation. The treatment involved robotic-assisted laparoscopic abdominoperineal resection and bilateral lymph node dissection. Histopathology revealed squamous cell carcinoma within the teratoma. Postoperatively, the patient underwent six cycles of paclitaxel-carboplatin chemotherapy and showed no signs of recurrence during the 1-year follow-up.
{"title":"Squamous cell carcinoma arising in sacrococcygeal teratoma in an adult: A case report","authors":"Yasushi Tanaka , Ryota Nakanishi , Hirokuni Hazama , Taro Mori , Tetsuro Kawazoe , Kensuke Kudou , Yoko Zaitsu , Yuichi Hisamatsu , Koji Ando , Eiji Oki , Shinichi Aishima , Yoshinao Oda , Tomoharu Yoshizumi","doi":"10.1016/j.hpr.2025.300773","DOIUrl":"10.1016/j.hpr.2025.300773","url":null,"abstract":"<div><div>Sacrococcygeal teratomas (SCT) with malignant transformation to squamous cell carcinoma are extremely rare, with only few cases reported in the literature. Herein, we report on a case of a primary sacrococcygeal mature cystic teratoma with malignant transformation into a squamous cell carcinoma. A 53-year-old woman presented with dysuria and lower abdominal pain caused by a huge SCT. Computed tomography (CT), magnetic resonance imaging, and positron emission tomography/CT findings were suggestive of SCT with malignant transformation. The treatment involved robotic-assisted laparoscopic abdominoperineal resection and bilateral lymph node dissection. Histopathology revealed squamous cell carcinoma within the teratoma. Postoperatively, the patient underwent six cycles of paclitaxel-carboplatin chemotherapy and showed no signs of recurrence during the 1-year follow-up.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"40 ","pages":"Article 300773"},"PeriodicalIF":0.0,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143739462","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 : 2025-03-22DOI: 10.1016/j.hpr.2025.300772
Benjamin F. Smith , Brenden L. Scott , Paul J. Michaels
Multi-cancer early detection assays are being increasingly studied as a way to efficiently and effectively screen for low-stage and treatable cancers from various tissue origins with a single blood test. However, many of these tests suffer from a low positive predictive value and, in positive cases, may suggest tumor origin from a tissue site that is ultimately found to be inaccurate. This can lead to an expensive and often unnecessary diagnostic work-up. Seminomas of the testicle are poorly represented in the studies that have been done, as most of the studies enroll patients over the age of 50, a demographic with a very low incidence of germ cell tumors.
Here, we report a case of a 67-year-old male who was found to have a “positive” cancer signal on the multi-cancer early detection assay used in the PATHFINDER-2 trial. An ensuing work-up showed an enlarged external iliac lymph node that was hypermetabolic on whole-body PET CT scan. A core biopsy was diagnostic of seminoma. Further evaluation and surgery revealed an ipsilateral regressed germ cell tumor of the testicle and evidence of additional non-regional lymph node metastases.
{"title":"Metastatic seminoma presenting in an external iliac lymph node in an asymptomatic elderly patient undergoing screening in a multi-cancer early detection study: Report of a case and review of the literature","authors":"Benjamin F. Smith , Brenden L. Scott , Paul J. Michaels","doi":"10.1016/j.hpr.2025.300772","DOIUrl":"10.1016/j.hpr.2025.300772","url":null,"abstract":"<div><div>Multi-cancer early detection assays are being increasingly studied as a way to efficiently and effectively screen for low-stage and treatable cancers from various tissue origins with a single blood test. However, many of these tests suffer from a low positive predictive value and, in positive cases, may suggest tumor origin from a tissue site that is ultimately found to be inaccurate. This can lead to an expensive and often unnecessary diagnostic work-up. Seminomas of the testicle are poorly represented in the studies that have been done, as most of the studies enroll patients over the age of 50, a demographic with a very low incidence of germ cell tumors.</div><div>Here, we report a case of a 67-year-old male who was found to have a “positive” cancer signal on the multi-cancer early detection assay used in the PATHFINDER-2 trial. An ensuing work-up showed an enlarged external iliac lymph node that was hypermetabolic on whole-body PET CT scan. A core biopsy was diagnostic of seminoma. Further evaluation and surgery revealed an ipsilateral regressed germ cell tumor of the testicle and evidence of additional non-regional lymph node metastases.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"40 ","pages":"Article 300772"},"PeriodicalIF":0.0,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143678911","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 : 2025-02-21DOI: 10.1016/j.hpr.2025.300771
Yiqiao Bao , Evan McNeil , William F. Hickey , Chun-Chieh Lin , George Zanazzi
Tumors that metastasize to the central nervous system rarely invade the pineal region. Many reports suggest that metastasis to the pineal region occurs as a solitary event. Here, we present the first case of mucinous adenocarcinoma of the pancreas metastasizing to the pineal gland. Autopsy of this 90-year-old man revealed leptomeningeal involvement and multiple intracranial metastatic lesions, including the fourth ventricle and the cerebellum, in addition to the pineal gland. These lesions may have contributed to his symptoms of falling and insomnia, agitation, and aggressive behaviors during the several months prior to his metastatic pancreatic cancer diagnosis and death. We also review the primary sites and other intracranial metastasis sites in 279 reported cases of pineal region metastases, and highlight the possibility of multiple intracranial lesions in patients with pineal gland metastasis.
{"title":"Pineal gland invasion and leptomeningeal dissemination of pancreatic mucinous adenocarcinoma","authors":"Yiqiao Bao , Evan McNeil , William F. Hickey , Chun-Chieh Lin , George Zanazzi","doi":"10.1016/j.hpr.2025.300771","DOIUrl":"10.1016/j.hpr.2025.300771","url":null,"abstract":"<div><div>Tumors that metastasize to the central nervous system rarely invade the pineal region. Many reports suggest that metastasis to the pineal region occurs as a solitary event. Here, we present the first case of mucinous adenocarcinoma of the pancreas metastasizing to the pineal gland. Autopsy of this 90-year-old man revealed leptomeningeal involvement and multiple intracranial metastatic lesions, including the fourth ventricle and the cerebellum, in addition to the pineal gland. These lesions may have contributed to his symptoms of falling and insomnia, agitation, and aggressive behaviors during the several months prior to his metastatic pancreatic cancer diagnosis and death. We also review the primary sites and other intracranial metastasis sites in 279 reported cases of pineal region metastases, and highlight the possibility of multiple intracranial lesions in patients with pineal gland metastasis.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"39 ","pages":"Article 300771"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143463574","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 : 2025-01-09DOI: 10.1016/j.hpr.2025.300769
Rayan Sibira , Anna Vu , Ryan Martinez , Emilian Racila , Siddhartha Sen , Diana Oramas
Background
Lipoblastoma is a benign tumor arising from embryonic white fat, commonly observed in infancy and early childhood. It manifests in two pathologically identical forms: circumscribed and diffuse. Typically, it is found in the extremities, trunk, and head and neck regions. The genetic hallmark involves clonal rearrangements of the chromosomal region 8q11 > q13 (8q12). The oncogene PLAG1 (pleomorphic adenoma gene 1) is situated on band 8q12. PLAG1 gene rearrangements have been identified in various lipomatous tumors and, more recently, in a superficial spindle cell lipoma.
Here, we present the case of a 54-year-old gentleman with a sizable right pleural mass, histologically characterized as a spindle cell lipomatous tumor. Immunohistochemistry revealed diffuse expression of CD34 in spindle cells, mosaic staining of RB1, diffuse positivity for p16, and patchy positivity for desmin, while adipocytes were positive for S100. Remarkably, the next-generation sequencing assay unveiled a previously unreported RUNX1T1::PLAG1 fusion, in addition to RB1 gene deletion. The patient underwent excision of the right pleural mass. Based on morphology, location, immunohistochemistry, and molecular analysis, this results confirms pleural-based (deep seated) lipomatous tumor with features of lipoblastoma and spindle cell lipoma. This case introduces a unique pleural-based lipomatous tumor with a novel PLAG1 fusion partner, associated with RB1 gene deletion, further expanding the spectrum of genetic findings within this category of lipogenic neoplasms.
{"title":"Pleura-Based Lipomatous Neoplasm with RUNX1T1::PLAG1 Rearrangement and RB1 Gene Deletion","authors":"Rayan Sibira , Anna Vu , Ryan Martinez , Emilian Racila , Siddhartha Sen , Diana Oramas","doi":"10.1016/j.hpr.2025.300769","DOIUrl":"10.1016/j.hpr.2025.300769","url":null,"abstract":"<div><h3>Background</h3><div>Lipoblastoma is a benign tumor arising from embryonic white fat, commonly observed in infancy and early childhood. It manifests in two pathologically identical forms: circumscribed and diffuse. Typically, it is found in the extremities, trunk, and head and neck regions. The genetic hallmark involves clonal rearrangements of the chromosomal region 8q11 > q13 (8q12). The oncogene <em>PLAG1</em> (pleomorphic adenoma gene 1) is situated on band 8q12. <em>PLAG1</em> gene rearrangements have been identified in various lipomatous tumors and, more recently, in a superficial spindle cell lipoma.</div><div>Here, we present the case of a 54-year-old gentleman with a sizable right pleural mass, histologically characterized as a spindle cell lipomatous tumor. Immunohistochemistry revealed diffuse expression of CD34 in spindle cells, mosaic staining of RB1, diffuse positivity for p16, and patchy positivity for desmin, while adipocytes were positive for S100. Remarkably, the next-generation sequencing assay unveiled a previously unreported <em>RUNX1T1::PLAG1</em> fusion, in addition to <em>RB1</em> gene deletion. The patient underwent excision of the right pleural mass. Based on morphology, location, immunohistochemistry, and molecular analysis, this results confirms pleural-based (deep seated) lipomatous tumor with features of lipoblastoma and spindle cell lipoma. This case introduces a unique pleural-based lipomatous tumor with a novel <em>PLAG1</em> fusion partner, associated with <em>RB1</em> gene deletion, further expanding the spectrum of genetic findings within this category of lipogenic neoplasms.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"39 ","pages":"Article 300769"},"PeriodicalIF":0.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143145399","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 : 2024-12-15DOI: 10.1016/j.hpr.2024.300768
Lo Man Lai , Mercedeh Tajdar , Ann Janssens , Peter Vandenberghe , Gert De Hertogh , Wouter Van Den Bogaert
Occult breast cancer (OBC) presents most commonly as solid tumor metastases when there is no clinically detectable primary breast lesion. We encountered a rare case of OBC in a 56-year-old woman mainly manifesting as cancer-related microangiopathic hemolytic anemia (CR-MAHA). She died suddenly during hospitalization and an autopsy was performed. Macroscopically, no primary tumor was identified. Microscopically, a massive number of circulating tumor cells (CTCs) were observed in almost all biopsied organs. The morphology and the immunohistochemical profile were consistent with pleomorphic lobular carcinoma (PLC) of the breast. Therefore, this is a rare case of OBC presenting exclusively in the form of CTCs originating from PLC. Awareness of this rare clinical presentation can aid in the correct diagnosis and appropriate patient management in the future.
{"title":"Occult pleomorphic lobular breast carcinoma presenting exclusively as microangiopathic hemolytic anemia and circulating tumor cells: An autopsy case report","authors":"Lo Man Lai , Mercedeh Tajdar , Ann Janssens , Peter Vandenberghe , Gert De Hertogh , Wouter Van Den Bogaert","doi":"10.1016/j.hpr.2024.300768","DOIUrl":"10.1016/j.hpr.2024.300768","url":null,"abstract":"<div><div>Occult breast cancer (OBC) presents most commonly as solid tumor metastases when there is no clinically detectable primary breast lesion. We encountered a rare case of OBC in a 56-year-old woman mainly manifesting as cancer-related microangiopathic hemolytic anemia (CR-MAHA). She died suddenly during hospitalization and an autopsy was performed. Macroscopically, no primary tumor was identified. Microscopically, a massive number of circulating tumor cells (CTCs) were observed in almost all biopsied organs. The morphology and the immunohistochemical profile were consistent with pleomorphic lobular carcinoma (PLC) of the breast. Therefore, this is a rare case of OBC presenting exclusively in the form of CTCs originating from PLC. Awareness of this rare clinical presentation can aid in the correct diagnosis and appropriate patient management in the future.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"39 ","pages":"Article 300768"},"PeriodicalIF":0.0,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143145398","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}
We experienced a 46-year-old man with rapidly declining renal function over the past 5 years. By strict diet and exercise regimen, he reduced his body mass index (BMI) from 35.1 to 24.8 over 15 months, which prevented the progression of renal dysfunction for the next 10 years. Kidney biopsy showed focal segmental glomerulosclerosis (FSGS) corresponding to obesity-related glomerulopathy. Besides suppressing the progression of renal function decline, resolution of the significant obesity reduced proteinuria and improved blood pressure control. We concluded that obesity itself caused FSGS, probably via hyperfiltration, which caused refractory hypertension and triggered proteinuria, resulting in renal function decline.
{"title":"Case of obesity-related glomerulopathy treated by pronounced weight loss by diet and exercise","authors":"Hisashi Sugimoto , Naoki Sawa , Yuki Oba , Daisuke Ikuma , Akinari Sekine , Hiroki Mizuno , Masayuki Yamanouchi , Eiko Hasegawa , Tatsuya Suwabe , Kiho Tanaka , Kei Kono , Keiichi Kinowaki , Kenichi Ohashi , Yutaka Yamaguchi , Yoshifumi Ubara","doi":"10.1016/j.hpr.2024.300765","DOIUrl":"10.1016/j.hpr.2024.300765","url":null,"abstract":"<div><div>We experienced a 46-year-old man with rapidly declining renal function over the past 5 years. By strict diet and exercise regimen, he reduced his body mass index (BMI) from 35.1 to 24.8 over 15 months, which prevented the progression of renal dysfunction for the next 10 years. Kidney biopsy showed focal segmental glomerulosclerosis (FSGS) corresponding to obesity-related glomerulopathy. Besides suppressing the progression of renal function decline, resolution of the significant obesity reduced proteinuria and improved blood pressure control. We concluded that obesity itself caused FSGS, probably via hyperfiltration, which caused refractory hypertension and triggered proteinuria, resulting in renal function decline.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"39 ","pages":"Article 300765"},"PeriodicalIF":0.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143145397","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 : 2024-12-06DOI: 10.1016/j.hpr.2024.300766
Joey Yan Leng Tan , Lavisha S. Punjabi , Suraya Zainul-Abidin , Jian Yuan Goh , Sathiyamoorthy Selvarajan
Superficial CD34-positive fibroblastic tumour (SCPFT) is a rare soft tissue neoplasm of borderline malignancy. It typically presents as a painless, slow-growing, well-circumscribed subcutaneous mass in adults, most commonly in the lower limbs. It is commonly associated with PRDM10 rearrangements.
A 57-year-old lady presented with a left posterior calf lump of 10 years duration. MRI showed a subcutaneous mass measuring 3.9x2.9 cm. Excision showed a moderately cellular tumour composed of spindle cells with eosinophilic cytoplasm arranged in fascicles and a vague storiform pattern. There was multi-focal moderate nuclear atypia, but no necrosis or significant mitotic activity. In some areas, the tumour cells showed lipidized cytoplasm, and focally, a haemosiderotic appearance. It stained diffusely positive for CD34 and WT1, and showed rare positive staining for SMA, S100, MUC4 and EMA. It was negative for desmin, caldesmon, ALK, SOX10, ERG, MNF116 and pan-TRK. Ki67 proliferative index was 3 % to 5 %. Archer FusionPlex Pan-Solid Tumour V2 Next-Generation Sequencing Assay detected a MED12 (exon 43) :: chr4 intergenic :: PRDM10 (exon 14) gene fusion. The surgical margins were positive for tumour, hence a repeat MRI was performed which showed changes indeterminate for post-surgical changes or small residual focus. There was no recurrence at 1 year follow-up.
PRDM10 rearrangements have been reported in SCPFT. Fusion partners include MED12. To our understanding, this is the first case of SCPFT harboring a three-way fusion that includes the intergenic region of chromosome 4 – its impact remains uncertain.
{"title":"Superficial CD34-positive fibroblastic tumour with MED12 :: chr4 intergenic :: PRDM10 fusion: A case report","authors":"Joey Yan Leng Tan , Lavisha S. Punjabi , Suraya Zainul-Abidin , Jian Yuan Goh , Sathiyamoorthy Selvarajan","doi":"10.1016/j.hpr.2024.300766","DOIUrl":"10.1016/j.hpr.2024.300766","url":null,"abstract":"<div><div>Superficial CD34-positive fibroblastic tumour (SCPFT) is a rare soft tissue neoplasm of borderline malignancy. It typically presents as a painless, slow-growing, well-circumscribed subcutaneous mass in adults, most commonly in the lower limbs. It is commonly associated with <em>PRDM10</em> rearrangements.</div><div>A 57-year-old lady presented with a left posterior calf lump of 10 years duration. MRI showed a subcutaneous mass measuring 3.9x2.9 cm. Excision showed a moderately cellular tumour composed of spindle cells with eosinophilic cytoplasm arranged in fascicles and a vague storiform pattern. There was multi-focal moderate nuclear atypia, but no necrosis or significant mitotic activity. In some areas, the tumour cells showed lipidized cytoplasm, and focally, a haemosiderotic appearance. It stained diffusely positive for CD34 and WT1, and showed rare positive staining for SMA, S100, MUC4 and EMA. It was negative for desmin, caldesmon, ALK, SOX10, ERG, MNF116 and pan-TRK. Ki67 proliferative index was 3 % to 5 %. Archer FusionPlex Pan-Solid Tumour V2 Next-Generation Sequencing Assay detected a <em>MED12</em> (exon 43) :: chr4 intergenic :: <em>PRDM10</em> (exon 14) gene fusion. The surgical margins were positive for tumour, hence a repeat MRI was performed which showed changes indeterminate for post-surgical changes or small residual focus. There was no recurrence at 1 year follow-up.</div><div><em>PRDM10</em> rearrangements have been reported in SCPFT. Fusion partners include <em>MED12</em>. To our understanding, this is the first case of SCPFT harboring a three-way fusion that includes the intergenic region of chromosome 4 – its impact remains uncertain.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"39 ","pages":"Article 300766"},"PeriodicalIF":0.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143145400","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}
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