Human Pathology Reports最新文献

{"title":"Isolated thrombocytosis with BCR::ABL1 gene rearrangement – a distinct entity or a variant of chronic myelogenous leukemia (CML)? Case report and review of literature","authors":"Vipulkumar Prajapati ,&nbsp;Raina R. Flores ,&nbsp;Zohra I. Nooruddin ,&nbsp;Edward A. Medina ,&nbsp;Gabriel Purnell ,&nbsp;William Ehman Jr. ,&nbsp;Juana Rodriguez ,&nbsp;Sheila Kane ,&nbsp;Veronica Ortega ,&nbsp;Gopalrao V.N. Velagaleti","doi":"10.1016/j.hpr.2025.300785","DOIUrl":"10.1016/j.hpr.2025.300785","url":null,"abstract":"<div><div>Chronic myeloid leukemia (CML) with isolated thrombocytosis and the absence of other significant morphological and/or clinical features of CML poses a diagnostic dilemma. Thrombocytosis in the setting of CML is usually accompanied by significant leukocytosis (usually above 25 K/mcL), prompting testing to detect the disease-defining <em>BCR::ABL1</em> gene rearrangement, which is present in multiple hematopoietic lineages. In CML cases with isolated thrombocytosis, patients present without symptoms and the thrombocytosis is typically discovered incidentally. In contrast to classic cases of CML, cases with isolated thrombocytosis have shown that the abnormal clone is confined to the megakaryocyte lineage resulting in a normal conventional karyotype and FISH results, if performed on the peripheral blood.</div><div>Here, we report another case of this rare entity and review the literature. We also suggest that this entity may deserve a separate and distinct entry in the WHO classification of tumors of hematopoietic and lymphoid tissues.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300785"},"PeriodicalIF":0.0,"publicationDate":"2025-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144665834","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}

{"title":"Adrenocortical neoplasm with myxoid changes and pseudoglandular pattern: A case report and literature review","authors":"Miao Zhang ,&nbsp;Khaled Elsayes ,&nbsp;Charles C. Guo ,&nbsp;Donna E. Hansel","doi":"10.1016/j.hpr.2025.300783","DOIUrl":"10.1016/j.hpr.2025.300783","url":null,"abstract":"<div><div>Adrenocortical neoplasms with myxoid change are very rare. Herein, we report a case of a 67-year-old man with a history of pancreatic adenocarcinoma status post distal pancreatectomy. During follow-up, PET/CT scan revealed a 2.8 cm tumor involving the left adrenal gland, which was resected. Microscopic examination showed a glandular-appearing lesion involving the adrenal cortex, which raised the differential diagnosis of metastatic pancreatic cancer. Initial immunohistochemical stains showed the lesional cells were negative for CK7, focally positive for pan cytokeratin, and retained SMAD4. Additional evaluation showed the tumor cells were diffusely positive for SF-1, Melan-A, CD56; focally positive for calretinin, and inhibin; and negative for CK20, CDX2, TTF-1, and chromogranin. A Ki67 index was 5 %. While these findings excluded pancreatic adenocarcinoma, they raised the differential diagnosis of adrenal cortical adenoma and/or carcinoma. Final diagnosis was myxoid adrenocortical tumor of uncertain malignant potential (MAT-UMP) following consensus review. In this case report and review, we highlight the diagnostic challenges of MAT-UMP, discuss potential pitfalls associated with this diagnosis, and review literature on this unusual entity.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300783"},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144632409","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}

{"title":"Mullerian adenosarcoma-like tumor arising from an extragonadal germ cell tumor: Case Report and Literature Review","authors":"Pauline Biesemans ,&nbsp;Marcella Baldewijns ,&nbsp;Steven Joniau ,&nbsp;Tim Van Assche ,&nbsp;Marc Claessens ,&nbsp;Robert Hente ,&nbsp;Wies Vanderbruggen ,&nbsp;Wim Volders ,&nbsp;Anne-Sophie Van Rompuy","doi":"10.1016/j.hpr.2025.300782","DOIUrl":"10.1016/j.hpr.2025.300782","url":null,"abstract":"<div><div>Extragonadal germ cell tumors (GCTs) are rare neoplasms, accounting for 1–5 % of all germ cell tumors. Mixed germ cell tumors are neoplasms with more than one GCT component. The majority of somatic-type malignancies arising in testicular GCTs originate from the teratomatous component of a mixed GCT.</div><div>We present a 43-year old man with a history of recurring retroperitoneal teratoma. Initially the patient was diagnosed with a retroperitoneal mixed germ cell tumor with an embryonal carcinoma component and a cystic mature teratoma component in 2001. The patient received neoadjuvant cisplatin-based chemotherapy, followed by surgical resection. He had several recurrences of the teratoma component in 2004, 2014 and the emergence of a somatic-type malignancy in 2023. Microscopic examination in 2023 revealed a biphasic tumor with malignant stromal overgrowth and a characteristic phyllodes-like pattern, leading to the diagnosis of Müllerian adenosarcoma-like tumor. To the best of our knowledge, this is the first reported case of Müllerian adenosarcoma-like tumor arising in an extragonadal teratoma.</div><div>This case expands the spectrum of somatic-type malignancies arising in extragonadal GCTs and emphasizes the importance of long-term surveillance. Extragonadal GCTs are rare and gonadal origin should always be excluded by imaging. Our case also brings awareness to the growing teratoma syndrome where residual teratomas persist or enlarge post-chemotherapy. Because of its extremely low incidence, Müllerian adenosarcoma in males should be studied further to determine the prognosis and best treatment options.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300782"},"PeriodicalIF":0.0,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144589279","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}

{"title":"Oral malignant melanoma with colon metastasis mimicking melanosis coli: Case report","authors":"Noura El Sayegh,&nbsp;Firas Kreidieh,&nbsp;Ghazi Zaatari,&nbsp;Najla Fakhruddin","doi":"10.1016/j.hpr.2025.300784","DOIUrl":"10.1016/j.hpr.2025.300784","url":null,"abstract":"<div><div>Metastatic melanoma to the colon originating from oral mucosa, mimicking melanosis coli, is rare. This report describes, for the first time, such a presentation in a 54-year-old patient and highlights its most unusual histopathologic features. Clinical follow up with whole body PET CT using FDG revealed increased radiotracer uptake in the proximal descending colon. Subsequent colonoscopy identified multiple hyperpigmented lesions in the ascending and transverse colon suggestive of melanotic deposits. Biopsy of these lesions shows melanotic deposit in the lamina propria simulating melanosis coli, along with rare atypical cells infiltrating and wrapping around and the colonic crypts. Immunohistochemical staining for Melan-A and SOX10 was positive, confirming the diagnosis of metastatic malignant melanoma. This case underscores the importance of maintaining a high level of suspicion by the pathologist when interpreting colonic tissue samples in such clinical context, as histopathologic findings may be subtle and easily overlooked.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300784"},"PeriodicalIF":0.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144570046","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}

{"title":"A rare case report and literature review of Ewing sarcoma of the vagina","authors":"Jennifer Vazzano,&nbsp;Wei Chen","doi":"10.1016/j.hpr.2025.300781","DOIUrl":"10.1016/j.hpr.2025.300781","url":null,"abstract":"<div><div>Primary Ewing sarcoma of the vagina is rare. Here we report the only case in a large tertiary center in the past 20 years. A 47-year-old female with vaginal bleeding had imaging revealing a mass in the upper vagina extending into the lower uterine segment and urethra. Outside biopsies demonstrated a high-grade small round blue cell tumor, with focal immunoreactivity for cytokeratin AE1/3, CAM5.2, PAX8, synaptophysin and chromogranin. An initial diagnosis of high-grade carcinoma with focal neuroendocrine differentiation was made, and the patient had partial response to chemoradiation. Subsequent TEMPUS genomic testing revealed <em>EWSR1-FLI1</em> somatic gene fusion, suggesting Ewing sarcoma. CD99 immunohistochemistry (IHC) was performed and showed diffuse membranous staining. A diagnosis of Ewing sarcoma of the vagina was rendered. Primary Ewing sarcoma should be included in the differential diagnosis of a high-grade small round cell tumor of the vagina as it may show variable IHC pattern, mimicking Müllerian or neuroendocrine carcinoma. CD99 and Fli-1 IHCs are helpful to point to this diagnosis, and molecular analysis with the characteristic <em>EWSR1</em> gene fusion confirms it. The prognosis of Ewing sarcoma of the vagina is like that in other sites, and more favorable than those in typical locations.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300781"},"PeriodicalIF":0.0,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144501379","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}

{"title":"Clinicopathological analysis of ovarian tumors in adolescent women under 20 years in Yazd, Iran (2011–2021): a 10-year retrospective study","authors":"Saadat Eslami ,&nbsp;Mohammad Aboutalebi Mirsaleh ,&nbsp;Sedigheh Ekraminasab","doi":"10.1016/j.hpr.2025.300779","DOIUrl":"10.1016/j.hpr.2025.300779","url":null,"abstract":"<div><h3>Background</h3><div>Ovarian tumors in women under 20 years of age present unique diagnostic and therapeutic challenges, owing to their diverse histological subtypes. This study aimed to investigate the clinical and pathological features of ovarian tumors in women aged &lt;20 years.</div></div><div><h3>Methods</h3><div>This cross-sectional descriptive study evaluated the clinicopathological features of ovarian tumor samples.</div></div><div><h3>Results</h3><div>The mean age of the patients was 17.2 years. The occurrence of 54 tumors among 180 girls under the age of 20 with ovarian masses equates to a frequency of 30 %. Surface epithelial tumors and germ cell tumors were the most frequent, with 22 cases (40.7 %).</div></div><div><h3>Conclusion</h3><div>The frequency of 30 % of ovarian tumors in girls under 20 years of age with ovarian masses indicates a high prevalence. This finding demonstrates that abdominal pain, along with symptoms such as nausea and vomiting, should elicit a broad range of differential diagnoses.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300779"},"PeriodicalIF":0.0,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144480538","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}

{"title":"Ectopic adrenocortical adenoma in liver disguising as hepatocellular carcinoma: A case report and literature review","authors":"Jixuan Duan ,&nbsp;Chong Peng ,&nbsp;Ting Sun,&nbsp;Heng Wen,&nbsp;Fangyan Lu,&nbsp;Yan Zheng,&nbsp;Wenjin Zhang","doi":"10.1016/j.hpr.2025.300780","DOIUrl":"10.1016/j.hpr.2025.300780","url":null,"abstract":"<div><div>Due to the anatomical proximity between the right adrenal gland and the liver, hepatic ectopic adrenocortical adenomas (HEAA) are frequently misdiagnosed as hepatocellular carcinoma (HCC), primarily because of their similar imaging characteristics. In this report, we present a case of HEAA that was initially misdiagnosed as HCC despite comprehensive preoperative evaluation. The review of the literature indicated HEAA showed no gender predilection. The imaging characteristics on both computed tomography (CT) and MRI frequently overlapped with those of HCC. Immunohistochemistry(IHC) proved essential for accurate differential diagnosis. Through comprehensive evaluation of all reported cases, we identified Melan-A and inhibin-α as particularly specific markers for HEAA. The accurate diagnosis of HEAA presents significant challenges, with frequent misdiagnosis as other hepatic tumors. Our analysis of this case and 10 comparable cases demonstrates that IHC serves as the cornerstone for distinguishing HEAA from HCC.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300780"},"PeriodicalIF":0.0,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144480537","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}

{"title":"Paradoxical cadherin-catenin immunostaining in a case of invasive mammary carcinoma with ductal and lobular differentiation: A molecular correlation","authors":"Seena Tabibi,&nbsp;Megan L. Troxell ,&nbsp;Carlos J. Suarez","doi":"10.1016/j.hpr.2025.300777","DOIUrl":"10.1016/j.hpr.2025.300777","url":null,"abstract":"<div><div>We present a 66-year-old woman with right breast invasive mammary carcinoma with distinct areas consisting of lobular and tubular morphology. The areas with lobular morphology paradoxically demonstrated intact membranous expression of E-cadherin, membranous p120 expression, with loss of beta-catenin. In this lobular appearing area of tumor, massive parallel sequencing identified a p. Y835* (c.2504_2505del) variant in the CDH1 gene, which results in premature termination in the last exon and a truncated protein. The areas with tubular morphology unexpectedly demonstrated lack of E-cadherin and beta-catenin expression along with cytoplasmic p120 expression. In this tubular appearing area of tumor, massive parallel sequencing identified a variant in CDH1 at the exon–intron boundary (c.1711 G &gt; A). Proposed mechanisms for absence of E-cadherin protein in this area include aberrant mRNA splicing or protein misfolding resulting from the missense alteration. Nevertheless, a genetic and phenotypic correlation in both morphologically distinct areas of the tumor is evident.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300777"},"PeriodicalIF":0.0,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144272114","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}

{"title":"Diagnostic considerations for gastrointestinal stromal tumors with altered immunophenotype following Imatinib treatment: A case report and literature review","authors":"Jihuan Chen ,&nbsp;Liz M. Yang ,&nbsp;Jonathan Somma ,&nbsp;Yujun Gan ,&nbsp;Zengying Wu ,&nbsp;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}

{"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 ,&nbsp;Brooke B. Bartow ,&nbsp;Gene P. Siegal ,&nbsp;Shuko Harada ,&nbsp;Ceren Yalniz ,&nbsp;Katia Khoury ,&nbsp;Lei Huo ,&nbsp;Qingqing Ding ,&nbsp;Aysegul A. Sahin ,&nbsp;Shi Wei ,&nbsp;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}