Journal of Clinical Pathology最新文献

Helicobacter pylori is a well-established cause of gastritis and gastric malignancy, but other Helicobacter species-collectively termed non-Helicobacter pylori Helicobacter (NHPH)-also contribute to gastric disease. This study retrospectively analysed the prevalence of NHPH in 1115 routine gastric biopsies from a large academic medical centre submitted for H. pylori drug susceptibility genotyping using a next-generation sequencing (NGS) assay targeting 16S and 23S rRNA genes. NGS results of identified pathogens were compared against those identified on histology. NHPH species were detected in 15 of 1115 cases (1.3%), including 7 NHPH-only infections and 8 mixed infections with H. pylori Detected NHPH species included Helicobacter heilmannii, Helicobacter felis and Helicobacter bizzozeronii No mutations associated with antimicrobial resistance were identified in NHPH. Broader molecular testing may improve recognition of mixed infections and guide more accurate diagnosis and treatment for gastric disease.

Aims: ELOC (TCEB1)-mutant renal cell carcinoma (RCC) is a recently recognised entity in the 2022 WHO classification. Due to overlapping features, it is frequently misdiagnosed as clear cell RCC (CCRCC). This study characterises the clinicopathological, immunohistochemical and molecular features of six ELOC-mutant RCCs to aid in their diagnostic distinction.

Methods: Twenty-eight RCCs initially diagnosed as CCRCC with cytokeratin 7 (CK7) positivity and/or fibromuscular stroma were re-evaluated. Sanger sequencing was performed to detect ELOC mutations. The histopathological and immunophenotypic features of the six mutation-positive tumours were compared with those of the remaining 22 cases.

Results: The six ELOC-mutant tumours occurred in five men and one woman. All specimens showed a multinodular architecture, separated by a thick fibromuscular stroma. Tumour cells exhibited tubular, papillary, nested and tubulocystic patterns, with small branching papillae often present within cysts. The cytoplasm was predominantly clear, and nuclei were low-grade and basally oriented. CK7 expression was moderate to strong, with diffuse membranous staining in papillary areas. Sanger sequencing confirmed ELOC point mutations in all cases. In contrast, CCRCCs with fibromuscular stroma were rare, more often exhibited eosinophilic cytoplasm, lacked papillary structures and showed negative or only focal expression of CK7. Sanger sequencing showed the wild-type ELOC genotype.

Conclusions: ELOC-mutant RCC exhibits distinctive morphologic and immunohistochemical features; however, a definitive diagnosis requires molecular confirmation. Recognition of its characteristic features, including clustered branching papillae, CK7 positivity in papillary regions and the lack of correlation between cytoplasmic and nuclear grade, can guide appropriate ancillary testing and improve diagnostic accuracy.

Background: SMARCA4-deficient neoplasms are aggressive tumours typically arising in the thoracic region, often responding to immunotherapy despite poor prognosis. Although rare, these tumours can also occur in the gastrointestinal tract, including the oesophagus. Given the potential for misdiagnosis, particularly when tumours present with undifferentiated morphology, this study aimed to identify key diagnostic features of SMARCA4-deficient undifferentiated carcinoma of the oesophagus (SMARCA4-deficient UC) and highlight the clinical importance of accurate diagnosis.

Material and method: A retrospective review of 36 oesophageal carcinoma cases with undifferentiated histology was conducted following institutional review board approval. All cases underwent BRG1 (SMARCA4) immunohistochemical (IHC) staining, with complete loss of nuclear BRG1 expression used to identify SMARCA4-deficiency. Histopathologic evaluation and relevant clinical data were analysed.

Results: SMARCA4 deficiency was identified in 22 of 36 cases (61%). There were no significant differences in tumour morphology, size, association with Barrett's, or clinical presentation between SMARCA4-deficient and SMARCA4-intact cases. However, significant differences in immunophenotype were observed, particularly regarding keratin and synaptophysin expression. Notably, eight SMARCA4-deficient cases were initially misclassified as neuroendocrine carcinoma due to synaptophysin positivity. Despite low tumour mutation burden, patients with SMARCA4-deficient UC showed improved survival when treated with immunotherapy. Additionally, three SMARCA4-deficient tumours exhibited areas of differentiated carcinoma adjacent to undifferentiated components.

Conclusions: Frequent synaptophysin expression in SMARCA4-deficient UC of the oesophagus can lead to diagnostic confusion with neuroendocrine carcinomas, resulting in potential mismanagement. BRG1 IHC should be incorporated in the diagnostic workup of poorly differentiated oesophageal tumours to ensure accurate classification and guide effective treatment strategies.

Aims: The objective of this study was to explore the clinical diagnostic indicators and treatment approaches for intravenous leiomyomatosis (IVL), particularly when it extends into the inferior vena cava and the right heart system.

Methods: Nine patients with IVL admitted to our hospital were enrolled in this study. The ultrasonographic, CT, MRI, pathological findings and surgical details of these patients were comprehensively analysed. All patients underwent surgical procedures. Postoperative pathological examination confirmed the presence of IVL, along with intramural leiomyoma of the uterus.

Results: Immunohistochemical results demonstrated that smooth muscle actin, smooth muscle myosin heavy chain, Desmin, Caldesmon, oestrogen receptor and progesterone receptor were highly positive. The Ki-67 index of most specimens was <3%, except for case 4. In case 4, which invaded the right atrium, the Ki-67 index ranged from 2% to 5%. Through molecular testing, this case with extension to the right atrium and inferior vena cava was identified as intraventricular smooth muscle neoplasia with fumarate hydratase deficiency. No copy number variation mutations were detected in all cases.

Conclusions: Although IVL is a rare histologically benign tumour, it exhibits the capacity to infiltrate cardiac chambers and pulmonary vasculature. Therefore, early diagnosis via imaging techniques, precise assessment of the extent of intravenous leiomyoma involvement, complete lesion resection and perioperative administration of anti-oestrogen medications are pivotal for enhancing patient prognosis. Additionally, for cases with atypical nuclei or high Ki-67 levels, multidisciplinary collaboration is required to personalised treatment.

Aims: Colorectal cancer (CRC) is increasingly detected at an early stage through national screening programmes, including tumours confined to the submucosa (pT1). Many pT1 CRC are managed by local endoscopic excision, and histological risk assessment is central to determining the need for further treatment.

Methods: Clinical and pathology data were analysed for screen-detected pT1 CRC removed by local excision within the English Bowel Cancer Screening Programme (BCSP) between 2021 and 2022. The completeness of data recorded in the Bowel Cancer Screening System (BCSS) was audited against national pathology guidance. Clinicopathological features and subsequent management were described.

Results: 1267 pT1 CRC from 1260 patients were identified. BCSS data were available for all cases, although some histological fields were incomplete or coded as 'not assessable'. Most tumours were adenocarcinoma, not otherwise specified (NOS) (95.7%) and well-moderately differentiated (90.4%). Venous, lymphatic and perineural invasion were recorded in 8.9%, 9.2% and 1.0% of cases, respectively. Complete local resection (R0) was documented in 643 tumours. Following local excision, 342 pT1 CRC (27.0%) received further treatment, most commonly colorectal resection (287 cases) or repeat local excision (23 cases). Lymph node metastases were reported histologically in 33 patients.

Conclusions: This large, contemporary cohort demonstrates that the English BCSP holds rich clinical and histological data suitable for audit and research. The audit highlights parameters where assessment is constrained by specimen-related factors and where data entry could be improved. These data characterise the histological features of locally excised pT1 CRC and their subsequent management and provide a foundation for future outcome-focused studies.

Aims: Idiopathic granulomatous mastitis (IGM) is a rare, benign inflammatory breast condition of unknown aetiology. It is a diagnosis of exclusion with a wide differential diagnosis. To date, no diagnostic guidelines exist for IGM in the UK. This scoping review aims to evaluate histopathological and microbiological approaches for the diagnosis of IGM.

Methods: A scoping review was performed by conducting a search of MEDLINE, Embase and Cochrane databases from 2003 to 2023. Studies involving human participants with histopathologically confirmed IGM were included. Data on histopathological and microbiological investigations were extracted and analysed.

Results: Out of 3208 search results, 225 studies involving 13 062 participants were included. Histological assessment was performed in 72.5% of participants, predominantly via core or excision biopsy. Microbiological investigations were inconsistently applied; only 47% of studies reporting the use of microscopy and culture. Only 24.9% of studies tested for tuberculosis using methods beyond histochemical Ziehl-Neelsen staining, and just 14 studies including 5% of participants described performing mycobacterial culture, despite this being the gold standard for diagnosis. Corynebacterium kroppenstedtii was identified in several studies using advanced molecular techniques, suggesting possible misclassification of cystic neutrophilic granulomatous mastitis as IGM.

Conclusions: Substantial heterogeneity exists in the diagnostic workup for IGM, particularly in excluding infectious and systemic causes. Histopathology alone is insufficient for definitive diagnosis. A comprehensive, standardised diagnostic framework that incorporates clinical, microbiological and epidemiological factors is needed to improve diagnostic accuracy and ensure appropriate management, particularly in the context of possible immunosuppressive therapy.