Annals of Diagnostic Pathology最新文献

Objectives: Colonic adenocarcinoma poses a significant global health burden. Accurate detection of serosal invasion (pT4) is crucial for prognosis, yet inconsistent grossing protocols create diagnostic challenges. We aimed to evaluate macroscopic predictors of serosal invasion, determine the minimum tumor blocks required for accurate staging, and assess pT4 frequency at Siriraj Hospital.

Materials and methods: We performed a retrospective review of a cohort comprising 218 patients diagnosed with colonic adenocarcinoma. The assessment was conducted by gastrointestinal pathologists and a trainee, integrating clinical records and macroscopic characteristics. Macroscopic features were categorized, including serosal surface appearance (smooth, irregular, bulging, perforated, adherent), tumor circumferential involvement, and depth of invasion on the cut surface (confined to muscularis propria, into pericolic tissue, or through serosa), correlated with histopathological evaluation according to the AJCC Cancer Staging Manual, 8th edition. Statistical analyses were executed to identify independent predictors of pT4a staging.

Results: The pT4 prevalence was 20.2% (pT4a: 14.7%, pT4b: 5.5%). Multivariate analysis confirmed irregular serosa as a strong predictor (aOR: 7.03, 95% CI: 1.99-24.71). Notably, macroscopic observation of tumor penetration through the serosa on the cut surface exhibited the highest predictive value (aOR: 48.76, 95% CI: 9.43-252.15). Data indicated that submitting at least two blocks from the tumor-serosa interface ensured reliable staging.

Conclusions: Our pT4 rates align with international benchmarks. Irregular serosa and macroscopic serosal penetration are robust pT4a predictors. We recommend meticulous gross examination and submitting a minimum of two blocks from the deepest invasion point to optimize staging accuracy.

Middle ear neuroendocrine tumor (MeNET) is a distinctive, uncommon neoplasm of the ear. Previously regarded as "middle ear adenoma" among other names, it was found to be consistently positive for neuroendocrine markers, with differentiation analogous to normal intestinal L cells, and has therefore been classified similarly to other neuroendocrine tumors throughout the body. Nevertheless, MeNETs have an unusual two-cell population and therefore may be unique among NETs. We sought to characterize a group of MeNETs by next-generation sequencing (NGS). Six MeNETs from the authors' archives were retrieved, with histologic and immunohistochemical results tabulated. Targeted DNA and RNA NGS were attempted on all cases. Clinical follow-up was obtained. The MeNETs arose in the middle ears of five men and one woman, ranging from 31 to 57 years (median, 47.5 years). Four cases were grade 1 and two cases grade 2 (one based on necrosis and one based on an elevated Ki67 index). DNA NGS was successful in five of six cases, with probable pathogenic variants including: ATRX mutations in two cases, chromosome 22 deletion, and DNMT3A, STAG2, RB1, HRAS, NF1, and SF3B1 mutations in one case each. In general, the variants were found at low allele frequencies. RNA NGS was successful in all cases, with one case harboring a fusion of unknown significance (R3HDM2::EP400). Follow up available in all cases, with five patients without disease (mean, 74 months; median, 17 months), with one patient (one of the grade 2 tumors) experiencing widespread distant metastases and dying 96 months after diagnosis. Despite the consistent appearance of MeNET, they are heterogeneous at the molecular level, with low mutational burdens but lacking consistent, recurrent alterations. This is similar to well-differentiated NETs of other organs, in particular the small intestine and lung. Overall, our findings support the grouped classification of MeNET within the larger NET scheme.

Osteofibrous dysplasia (OFD) and adamantinoma are rare primary bone tumors. The present study is a clinico-pathological analysis of OFDs and adamantinomas, highlighting the value of distinguishing these tumors from their mimics and evaluating their proximity. OFDs, adamantinomas, fibrous dysplasias (FDs), and intraosseous synovial sarcomas (SS) of the tibia and fibula, diagnosed from 2012 to 2024 (12 years) were retrieved. Fifty-eight tumors were reviewed, and finally, 19 OFDs and 28 adamantinomas were analyzed. After a review, the diagnosis was modified in 12/58 (20.7%) tumors; with 4 OFDs revised to FDs; 2 FDs to OFDs; 2 intra-osseous SSs to classic adamantinomas; 3 OFD-like adamantinomas to classic adamantinomas, and a single de-differentiated adamantinoma to classic adamantinoma. The median age for OFD (10 years) was lower than that of adamantinoma (25 years). The radiological impression concurred with the histopathological diagnosis in 40% of OFDs and 60% of adamantinomas. Among 28 adamantinomas, there was a single OFD-like adamantinoma, 25 classic adamantinomas, and 2 dedifferentiated adamantinomas. Pan keratin (AE1/AE3) was positive in 18/19 (94.7%) OFDs and 19/20 (95%) adamantinomas. P40 (5/5, 100%) and p63 (6/8, 75%) were useful in the diagnosis of adamantinoma. Most adamantinomas were treated with surgery. None of the OFDs progressed to an adamantinoma during a median follow-up of 51.15 months(range = 4.36 to 97.94 months). Five out of 28 (17.9%) patients with an adamantinoma developed recurrences and 5 (17.9) developed metastases. The most commonly associated patterns with recurrences and metastasis in a classic adamantinoma were spindle and basaloid. The present study constitutes the first and the largest series of OFDs and adamantinomas from our subcontinent. OFD, OFD-like adamantinoma and adamantinoma may display overlapping clinico-radio-pathological profiles, and as such are potentially associated with diagnostic errors. Although there is a morphological continuum between OFD and adamantinoma, we did not observe a disease progression during the limited follow-up. It is crucial to distinguish an OFD and an adamantinoma from their various mimics, given treatment-associated implications. A long-term follow-up is suggested, as recurrences and metastases can occur late during the disease course.