Diagnostic Pathology最新文献

Background: Myoepithelioma-like tumor of the vulvar region (MELTVR) is a rare type of soft tissue mesenchymal tumor. While MELTVR exhibits histological characteristics similar to soft tissue myoepithelial tumors, its immunohistochemical and genetic features differ significantly. To date, no comprehensive genomic analysis of this tumor has been conducted.

Case presentation: We present the clinicopathological features, imaging characteristics, and immunophenotypes of three patients with MELTVR, along with their genomic characterization through high-throughput sequencing. Immunohistochemical analysis revealed that these tumors were negative for SMARCB1, S-100, CD34, CD31, SMA, Desmin, and Keratin. The Ki-67 proliferation index for tumor cells ranged from 10 to 35%. Genomic analyses showed copy number deletions in the SMARCB1 gene in all three patients. The tumor mutational burden was relatively low, ranging from 1.35 to 4.33. Additionally, two tumors exhibited fusion mutations involving PPP6R3::FHDC1 and MYH9::MYH6, while no fusions involving EWSR1, NR4A3, or FUS were detected.

Conclusions: This study reports the first comprehensive genomic analysis of three patients with MELTVR, potentially identifying therapeutic targets for this rare tumor.

Poisoning from emamectin benzoate combined with indoxacarb can cause neurological symptoms and methemoglobinemia, which may present clinically as confusion, cyanosis, dyspnea, and limb convulsions. In such cases, naloxone can be used to alleviate neurological symptoms, while high-dose vitamin C and low-concentration methylene blue can reduce methemoglobin (MetHb) to improve hypoxic symptoms. Hemoperfusion and continuous renal replacement therapy (CRRT) can rapidly remove exogenous and endogenous toxins from the blood, effectively protecting against organ damage to the heart, liver, and kidneys caused by emamectin benzoate poisoning.

Background: Lipoprotein glomerulopathy (LPG), a rare genetic metabolic kidney disease with poor prognosis, is caused by mutations in the apolipoprotein E (ApoE) gene and is usually accompanied by hyperlipidemia. Lipoprotein glomerulopathy can be complicated by other glomerulopathies, such as membranous nephropathy, lupus nephritis, and immunoglobulin A nephropathy (IgAN), which have been mainly reported in Japan. Herein, we present the first case of a patient with LPG with IgAN from Chongqing, China. In contrast to previous cases, this patient lacked hyperlipidemia and ApoE was a Kyoto mutation.

Case presentation: A 38-year-old man was admitted to our hospital due to proteinuria and hematuria, which was found during urine examination. Renal function and blood lipid and lipoprotein levels were normal. After renal biopsy, the patient was diagnosed of LPG with IgAN. Analysis of the ApoE gene showed a heterozygous C→T transition in exon 3, resulting in a change in the 25th amino acid from arginine to cysteine (Kyoto mutation). Genetic analysis of the family showed that this mutation was inherited from his father and passed on to his daughter. Serum ApoE was 14.4 mg/dL. Combined with the above findings, the patient was diagnosed with LPG accompanied by IgAN. After 18 months of enalapril treatment without lipid-lowering therapy, the patient's renal function and blood lipid levels were stable and urine protein levels were significantly ameliorated.

Conclusion: We presented a rare case of LPG (Kyoto) with IgAN without abnormal blood lipids and other typical clinical manifestations. Therefore, for patients with unremarkable clinical manifestations, renal biopsy is of great value for definite diagnosis of disease.

Background: Breast cancer was previously categorized as human epidermal growth factor receptor 2 (HER2)-positive (immunohistochemistry [IHC] 3+, IHC 2+ / in situ hybridization [ISH]-positive) or HER2-negative (IHC 0, IHC 1+, IHC 2+/ISH-). Recent studies of trastuzumab deruxtecan, a HER2-directed antibody-drug conjugate, have explored the spectrum of HER2 expression in tumors categorized as HER2-negative, including HER2-low (IHC 1+, IHC 2+/ISH-) and HER2-ultralow (IHC 0 with membrane staining). Clinical relevance of HER2-low and HER2-ultralow is reinforced by encouraging efficacy findings in these populations.

Objective: To assess HER2-low and HER2-ultralow scoring performance by pathologists, and compare real-world HER2-low scoring with centralized scoring by trained pathologists.

Methods: Formalin-fixed, paraffin-embedded breast cancer samples stained by the VENTANA anti-HER2/neu (4B5) Rabbit Monoclonal Primary Antibody (Roche) assay were selected to ensure adequate representation across all HER2 IHC scores (N = 500). Samples were rescored in a central laboratory by three pathologists trained in HER2-low scoring, and a majority consensus generated. Agreement between consensus and historical real-world HER2 scores was assessed by Fleiss' kappa across HER2 scores (IHC 0, 1+, 2+, 3+).

Results: Substantial agreement was observed among central pathologists across HER2 scores (κ = 0.69), for the HER2-low cutoff (IHC 0 vs. IHC 1+, 2+, 3+; κ = 0.79), and the HER2-ultralow cutoff (IHC 0 absent membrane staining vs. IHC 0 with membrane staining, 1+, 2+, 3+; κ = 0.68). Substantial agreement was observed between real-world pathologists and central consensus for the HER2-low cutoff (κ = 0.72).

Conclusions: Pathologists can reproducibly score HER2-low and HER2-ultralow when supported by training. Findings may aid decision-making for patients with breast cancer who are potentially eligible for HER2-directed therapy.

Alveolar soft-part sarcoma (ASPS), a rare and malignant neoplasm of soft tissues, comprises less than 1% of all soft-tissue sarcomas and is characterized by distinct histopathological and molecular markers. A 27-year-old female presented with a history of postcoital vaginal bleeding and intermittent bleeding over the preceding month. Imaging studies identified abnormal echogenicity and vascular patterns in the posterior cervical lip. Initial histopathological assessment indicated a perivascular epithelioid cell tumor (PEComa) with TFE3 gene rearrangement; however, subsequent immunohistochemical and molecular analyses corroborated the diagnosis of ASPS. The patient underwent a total laparoscopic hysterectomy with bilateral salpingo-oophorectomy. Postoperative pathology revealed that the residual tumor was confined to the inner third of the cervix, with no evidence of lymphovascular or perineural invasion. The patient did not receive adjuvant therapy and was followed for three months postoperatively, during which no recurrence or metastasis was observed. Given the extreme rarity of ASPS, its diagnosis necessitates meticulous scrutiny by pathologists to inform and guide subsequent therapeutic approaches.

Background: Microsecretory adenocarcinoma (MSA) is a newly identified entity in the WHO classification of salivary gland tumors characterized by MEF2C::SS18 fusion. It was previously considered as adenocarcinoma not otherwise specified (NOS). With the discovery of new gene fusions specifying distinct salivary gland tumors and restricting the diagnosis of adenocarcinoma NOS, five cases of MSA were recognized for the first time using targeted RNA sequencing. Afterwards, further authors reported MSA in the salivary glands and more recently in the skin.

Methods: We reviewed the literature for all cases of MSA reported in English-language articles. We comprehensively discussed clinical, histopathological, immunohistochemical and molecular findings of the retrieved cases.

Results: Forty cases were identified. Thirty cases occurred in the salivary glands and ten cases occurred in the skin. They were characterized histologically by a well circumscribed mass formed of microcysts containing basophilic secretions and enclosed in a fibromyxoid stroma. The tumor cells were flattened resembling intercalated duct cells with minimal eosinophilic cytoplasm and small oval nuclei. By immunohistochemistry, the tumor cells were positive for SOX10, S100, p63 and negative for p40, calponin and mammaglobin. However, cutaneous cases had a somewhat different immunoprofile.

Conclusion: MSA is a salivary gland malignancy that also has a cutaneous counterpart. Focusing on emphasising the almost consistent histopathological and immunohistochemical findings help in increasing the awareness of clinicians, surgeons and pathologists about it and at the same time lessening the need for more complicated diagnostic methods that are not readily available in all institutions. Despite the low-grade nature of this tumor, thorough management and rigorous follow up of cases are highly recommended due to occasional aggressive behaviour.

Background: The accurate cytological diagnosis of endometrial carcinomas by minimally invasive method has a broad application. There are several articles described the morphological characteristics but not arrangements of endometrial lesion cells on LBC slides.

Methods: A retrospective study was conducted using 175 endometrial samples obtained by direct negative pressure suction with disposable endometrial sampler. All lesions were diagnosed both cytologically and histologically, and the diagnostic results were compared and analyzed.

Results: The cytological diagnoses of polyps, simple or complex hyperplasia, and atypical hyperplasia were highly consistent with the histological diagnosis. The cytological features of polyps and normal endometrium, as well as simple and complex hyperplasia, are the same. Among 82 cases of histologically confirmed adenocarcinoma, the cytological diagnosis were adenocarcinoma cells (46 cases, 56.10%), suspected for adenocarcinoma cells (22 cases, 26.83%), and false negative (14 cases,17.07%). Retrospective reviewing the slide suggest diagnostic parameters such as significantly enlarged nuclei, multistage papillary arrangements, large and numerous nucleoli, and large vacuoles containing neutrophils in the cytoplasm are reliable diagnostic criteria for endometrial carcinoma cells; on the other hand, ignorance of lobulated arrangements and escaped arrangements are the main reasons for missed diagnosis.

Conclusions: The cytological diagnosis of endometrial lesions not only depends on the morphological characteristics of cells, but also need careful observations of the cellular arrangements.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. The most common mutations in GISTs are those in receptor tyrosine kinase (KIT) and platelet-derived growth factor receptor alpha (PDGFRA). GISTs without KIT or PDGFRA mutations are defined as wild-type (WT) GISTs. The molecular changes, prognosis, and treatments of WT GISTs remain uncertain. Among WT GISTs, neurotrophic tyrosine receptor kinase (NTRK) fusions have rarely been reported. We report a case of quadruple wild-type GIST harboring a novel CDC42BPB::NTRK3 fusion. In this study, we described a 66-year-old male patient with intrajejunal lesion. This case showed massive lymphocytic and plasma cell infiltration, which caused diagnostic difficulties in morphology. CDC42BPB::NTRK3 fusion was detected via next-generation sequencing (NGS), and this finding was confirmed by fluorescence in situ hybridization (FISH), which revealed NTRK3 breakage. However, the expression of the Trk protein in tumor tissue was not detected by immunohistochemistry (IHC). This finding expands the genetic spectrum of NTRK rearrangements in GISTs.

Background: Central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL) is relatively rare, occurring at a rate of approximately 5%. Primary CNS lymphoma (CNS-DLBCL), a subtype of DLBCL, is rare clinically but highly malignant and invasive. Its atypical clinical symptoms and imaging features contribute to a high rate of misdiagnosis and a poor prognosis. Thus, early and accurate diagnosis is imperative for improving the patient's prognosis. Cerebrospinal fluid (CSF) cytology, a rapid and convenient diagnostic method, plays a crucial role in diagnosing intracranial tumors.

Case presentation: In this instance, the patient presented with nonspecific early symptoms and exhibited atypical imaging findings. A lumbar puncture performed at another hospital yielded a low cell count in the CSF, leading to an incorrect diagnosis. Upon admission to our hospital, CSF cytology identified abnormal cells. A definitive diagnosis of CNS-DLBCL was established utilizing additional diagnostic methods, facilitating targeted treatment.

Conclusions: This case underscores the pivotal role of CSF cytology in rapidly guiding the differential diagnosis of intracranial tumors and underscores the necessity of training laboratory personnel in morphological examination.