Correction to: Molecular pathology of endocrine gland tumors: genetic alterations and clinicopathologic relevance
(Source: Virchows Archiv)
Source: Virchows Archiv - January 26, 2024 Category: Pathology Source Type: research
Grade group 4 prostate cancer without intraductal carcinoma on biopsy is more likely to be downgraded on prostatectomy than with intraductal carcinoma
In this study, we investigated the association between intraductal carcinoma of the prostate (IDCP) along with several histopathological features on prostate biopsy and downgrading of grade group 4 (GG4) prostate cancer (PCa) in patients with the highest grade tumor of GG4 PCa in at least one core. A total of 29 cases had the highest grade tumor of GG4 PCa and radical prostatectomy performed between 2016 and 2021. IDCP was detected in 11 out of 29 cases on biopsy. The cases without IDCP were more likely to be downgraded on prostatectomy than with IDCP, with statistical significance (88.9% vs 36.4%,p = 0.003). The propo...
Source: Virchows Archiv - January 25, 2024 Category: Pathology Source Type: research
Gastroblastoma with a novel ACTB::GLI1 gene fusion in a 19-year-old male
AbstractGastroblastoma is a rare gastric biphasic tumor composed of mesenchymal and epithelial elements in variable proportions. These tumors usually arise in the gastric antrum of children and young adults and are reported to harbor a recurrent MALAT1::GLI1 fusion. Herein we report a case of gastroblastoma in a 19-year-old male who presented with intermittent epigastric abdominal discomfort. Antrectomy revealed a 5.6-cm multi-lobulated, tan-pink mass with solid and focally cystic areas involving the submucosa, muscularis propria, and subserosa. All tumor cells demonstrated immunoreactivity for GLI-1, CD56, and vimentin; e...
Source: Virchows Archiv - January 23, 2024 Category: Pathology Source Type: research
Syndromic MEN1 parathyroid adenomas consist of both subclonal nodules and clonally independent tumors
AbstractPrimary hyperparathyroidism with parathyroid tumors is a typical manifestation of Multiple Endocrine Neoplasia Type 1 (MEN1) and is historically termed “primary hyperplasia”. Whether these tumors represent a multi-glandular clonal disease or hyperplasia has not been robustly proven so far. Loss of Menin protein expression is associated with inactivation of both alleles and a good surrogate for aMEN1 gene mutation. Thecyclin-dependent kinase inhibitor 1B (CDKN1B) gene is mutated in MEN4 and encodes for protein p27 whose expression is poorly studied in the syndromic MEN1 setting.Here, we analyzed histomorphology ...
Source: Virchows Archiv - January 20, 2024 Category: Pathology Source Type: research
H3 K27M mutation in rosette-forming glioneuronal tumors: a potential diagnostic pitfall
This study aimed to assess whether RGNTs, similar to other midline tumors, may exhibit immunohistochemical loss of H3 K27me3 and harbor theH3 K27M mutation.All seven analyzed RGNTs displayed immunohistochemical loss of H3 K27me3 in all tumor cells or H3 K27me3 mosaic immunostaining. In one case, H3 K27me3 loss was associated with theH3 K27M mutation, whereas the other six cases did not exhibit anyH3 mutations or EZHIP overexpression. During a follow-up period of 23 months, theH3 K27M-mutant case remained unchanged in size despite partial resection, indicating that theH3 mutation may not confer higher biological aggressiven...
Source: Virchows Archiv - January 17, 2024 Category: Pathology Source Type: research
Correction to: Prevalence and type of MMR expression heterogeneity in colorectal adenocarcinoma: therapeutic implications and reporting
(Source: Virchows Archiv)
Source: Virchows Archiv - January 17, 2024 Category: Pathology Source Type: research
Current challenges and practical aspects of molecular pathology for bone and soft tissue tumors
AbstractThis review shows the extraordinary change molecular pathology has induced in the classification, diagnosis, and clinical practice of molecular pathologists dealing with sarcomas. We have primarily focused on the practical aspects of molecular studies and the current and mid-term challenges for our subspecialty, ending with ten tips for the next generation of sarcoma molecular pathologists. (Source: Virchows Archiv)
Source: Virchows Archiv - January 16, 2024 Category: Pathology Source Type: research
Intratumoral heterogeneity of Ki67 proliferation index outperforms conventional immunohistochemistry prognostic factors in estrogen receptor-positive HER2-negative breast cancer
This study utilized digital image analysis (DIA) and computational pathology methods to investigate the prognostic value of ITH indicators in ER-positive (ER+) HER2-negative (HER2 −) BC patients. Whole slide images (WSIs) of surgically excised specimens stained for ER, PR, Ki67, and HER2 from 254 patients were used. DIA with tumor tissue segmentation and detection of biomarker-positive cells was performed. The DIA-generated data were subsampled by a hexagonal grid to comput e Haralick’s texture indicators for ER, PR, and Ki67. Cox regression analyses were performed to assess the prognostic significance of the immunohis...
Source: Virchows Archiv - January 13, 2024 Category: Pathology Source Type: research
Molecular pathology in diagnosis and prognostication of head and neck tumors
AbstractClassification of head and neck tumors has evolved in recent decades including a widespread application of molecular testing in tumors of the salivary glands, sinonasal tract, oropharynx, nasopharynx, and soft tissue. Availability of new molecular techniques allowed for the definition of multiple novel tumor types unique to head and neck sites. Moreover, the expanding spectrum of immunohistochemical markers facilitates a rapid identification of diagnostic molecular abnormalities. As such, it is currently possible for head and neck pathologists to benefit from a molecularly defined classifications, while making diag...
Source: Virchows Archiv - January 13, 2024 Category: Pathology Source Type: research
ETV6::NTRK3-associated papillary adenocarcinoma: let us play it by ear
AbstractCeruminous glands are modified apocrine glands, situated in the external auditory canal (EAC) that, together with sebaceous glands, produce cerumen. The neoplastic transformation of these structures is exceedingly rare. We encounter two cases of EAC adenocarcinoma withETV6::NTRK3 fusion. Despite this genetic overlap, the morphology and immunophenotype delineate its clear separation from secretory carcinoma. These cases demonstrate novel primary EAC adenocarcinoma with papillary morphology, which expands the ever-increasing list ofETV6::NTRK3-positive malignancies and which we would like to termETV6::NTRK3-transloca...
Source: Virchows Archiv - January 11, 2024 Category: Pathology Source Type: research
Comparison of the 7th and revised 8th UICC editions (2020) for oral squamous cell carcinoma: How does the reclassification impact staging and survival?
This study aimed to evaluate the impact of reclassification on staging and, subsequently, the survival of patients with OSCC. Primary OSCCs from 391 patients were classified according to the 7th and revised 8th UICC editions (2020). Stage migration was assessed, and stage-specific progression-free survival (PFS) and overall survival (OS) were evaluated using the Kaplan –Meier method. The log-rank test was used to compare the different stages. Cox-proportional hazard modeling was used to compare the two editions. Incorporating the DOI into the T classification resulted in an upstaging of 77 patients, constituting 19.69% o...
Source: Virchows Archiv - January 8, 2024 Category: Pathology Source Type: research
Low incidence of BRAF and NRAS mutations in a population with a high incidence of melanoma
AbstractReported rates ofBRAF mutation in Irish cutaneous melanoma cohorts are lower than the reported international data. We aimed to assess the mutational status of a cohort of primary cutaneous melanomas and to correlate it with clinical follow-up data.A total of 92 cases of primary cutaneous melanoma diagnosed at a single institution in 2012 were analyzed. Regions containing common mutations in theBRAF,NRAS,KIT, andKRAS genes were investigated by PCR amplification followed by Sanger sequencing. Demographic details, tumor characteristics, and 10-year outcome data were also obtained.Ten cases withBRAF V600E mutations (11...
Source: Virchows Archiv - January 6, 2024 Category: Pathology Source Type: research
CTNNB1 mutation-driven hybrid tumor: desmoid fibromatosis with an unusual associated epithelioid component arising in association with a neuromuscular choristoma
AbstractCTNNB1 mutations play important roles in the development of soft tissue tumors, such as desmoid fibromatosis (DF), sinonasal tract angiofibroma, sinonasal glomangiopericytoma, intranodal palisaded myofibroblastoma, neuromuscular choristoma (NMC), and the recently reported pseudoendocrine sarcoma. Here, we report a unique hybrid soft tissue tumor with classic DF, unusual epithelioid component, and NMC in a 23-year-old female. The classic DF and NMC and the unusual epithelioid component and NMC were locally intermixed and closely related to each other. Immunohistochemically, the DF, unusual epithelioid component, and...
Source: Virchows Archiv - January 6, 2024 Category: Pathology Source Type: research
Characterization of two transcriptomic subtypes of marker-null large cell carcinoma of the lung suggests different origin and potential new therapeutic perspectives
In conclusion, our study split the histological marker-null LCC into two different transcriptomic entities, withPOU2F3,FOXI1, andAIM2 genes as differential expression markers that might be probed by immunohistochemistry for the differential diagnosis between Pure-LCC and ADLike-LCC. Finally, the identification of several signatures linked to replication stress in Pure-LCC and inflammasome complex in ADLike-LCC could be useful for designing new potential therapeutic approaches for these subtypes. (Source: Virchows Archiv)
Source: Virchows Archiv - January 3, 2024 Category: Pathology Source Type: research
Giant bilateral prepubertal-type teratomas in a postpubertal patient: An illustrative case and review of the literature
AbstractPrepubertal-type teratomas are uncommon, especially in postpubertal male patients. We document a case of a 28-year-old man with a lifelong history of bilateral testicular masses who presented with scrotal fistulas and no clinical evidence of extratesticular disease. Bilateral radical orchiectomies demonstrated large bilateral solid and cystic masses that contained grossly visible hairs. Microscopically, both tumors consisted of pure teratomas comprising a mixture of mature tissues derived from the three embryonic layers. Germ cell neoplasia in situ was not identified, and fluorescence in situ hybridization studies ...
Source: Virchows Archiv - January 2, 2024 Category: Pathology Source Type: research
