Diagnostic Pathology最新文献

We present two cases of tongue schwannoma in two young males. The unusual, exogenetic clinical manifestation might be a big challenge for most dentists in making a correct diagnosis. The two patients had no special genetic or environmental background. Both patients denied cigarette smoking or alcohol abuse. Physical examination of the cervical lymph nodes yielded negative results. Their astonishing medical histories revealed that both had self-injurious practices using sharp instruments. The diagnosis of tongue schwannoma was confirmed by histopathology, revealing typical Antoni type A and B areas, and reactivity with S-100 by immunohistochemistry. The lesions were excised transorally under local anesthesia with no signs of recurrence for more than two years.

Ewing's sarcoma (ES) is an aggressive small round cell tumor traditionally diagnosed through open biopsy. We present a systematically evaluated case suggesting that standardized ultrasound-guided fine-needle aspiration cytology (FNAC), when combined with immunohistochemical (IHC) and molecular analysis, may provide diagnostic reliability approaching that of open biopsy. A 26-year-old female presented with an insidiously developing left popliteal fossa mass. Ultrasound-guided FNAC demonstrated characteristic small round blue cells, with IHC showing diffuse positivity for CD99, FLI-1, and Bcl-2. Subsequent fluorescence in situ hybridization (FISH) analysis identified the EWSR1 gene rearrangement. The patient exhibited significant radiographic response to neoadjuvant chemotherapy after two cycles, as evidenced by MRI. Definitive surgical resection specimens similarly demonstrated EWSR1 rearrangement by FISH, corroborating the initial diagnosis. Following four adjuvant chemotherapy cycles, the patient achieved disease-free status at the last follow-up. This case highlights the potential utility of optimized FNAC specimen triage (incorporating smears, liquid-based cytology, and cell blocks) for rare tumors, enabling comprehensive ancillary testing while maintaining diagnostic accuracy and supporting timely therapeutic decision-making.

Background: PTEN hamartoma tumor syndrome (PHTS) is a rare, multisystem disorder caused by germline pathogenic variants in the PTEN gene, predisposing individuals to various malignancies, including breast cancer.

Case presentation: We describe a 26-year-old woman with longstanding bilateral palpable breast masses and spontaneous bloody nipple discharge. Imaging revealed numerous cysts and masses, predominantly in the right breast. Multiple biopsies showed benign papilloma with focal atypical ductal hyperplasia (ADH), while total mastectomy specimens revealed multifocal, poorly differentiated, triple-negative invasive carcinoma. An axillary lymph node contained ectopic breast tissue with associated papillary proliferation. Genetic testing identified a pathogenic germline PTEN variant (c.209 + 4_209 + 7delAGTA), confirming PTEN hamartoma tumor syndrome (PHTS).

Conclusion: This case underscores the importance of considering PHTS in young patients presenting with extensive papillomatosis and other unusual breast pathologic findings, even in the absence of a family history of cancer. Early recognition enables timely genetic counseling, confirmatory testing, and implementation of appropriate surveillance and management strategies.

In this case report we describe a Ewing-like high grade small round cell sarcoma of the urinary bladder in which an extremely rare EWSR1::BEND2 fusion was found. A 28-year-old male patient presented with hematuria and in the following examinations a large necrotic bladder tumor with spreading to adjacent prostatic tissue and multiple lung metastases were found. Histology showed a poorly differentiated small round cell tumor with perivascular rosettes and moderate membranous positivity for CD99. The methylation profile of the tumor did not match with any of the tumor entities grouped by the sarcoma classifier. With tumor agnostic methods, mainly next generation sequencing, novel fusions are being found at an accelerating rate. Our case adds to the expanding group of EWSR1 fusion neoplasms, and describes the effects of a Ewing sarcoma treatment protocol on this type of sarcoma. The relevance of traditional methods for detecting Ewing sarcoma with fluorescence in situ hybridization is decreasing as EWSR1 rearrangements are detected in tumors that show different clinical behavior and morphology. The classification of these tumors into WHO defined entities to guide treatment is a challenge.

Background: Triple-negative breast cancer (TNBC) is aggressive and has limited therapeutic options due to the absence of targeted therapies, highlighting the urgent need for prognostic biomarkers linked to cancer stemness and chemoresistance. Aldehyde dehydrogenase 1 (ALDH1), a key regulator of stem cell properties, remains incompletely characterized in TNBC clinical cohorts.

Methods: ALDH1 mRNA expression levels were analyzed using the GEO2R online database, and its prognostic significance was assessed via the Kaplan‒Meier plotter tool. Immunohistochemical (IHC) staining was performed on a tissue microarray comprising 96 TNBC samples and paired adjacent normal tissues from patients treated at Binzhou People's Hospital between 2016 and 2022. The associations between ALDH1 expression and clinicopathological parameters were evaluated using the chi-square test.

Results: Bioinformatics analysis revealed significantly higher ALDH1 mRNA expression in TNBC tissues compared to adjacent benign tissues. Kaplan‒Meier survival analysis demonstrated that elevated ALDH1 mRNA expression was associated with poor prognosis in TNBC patients. IHC staining further confirmed elevated ALDH1 protein expression in TNBC tissues compared with normal adjacent tissues. However, there was no significant correlation between ALDH1 expression and conventional clinicopathological parameters, including age, menopausal status, tumor size, TNM stage, histological grade, histological subtype, axillary lymph node metastasis and the Ki-67 index (p > 0.05). High ALDH1 expression was significantly associated with poorer overall survival ( χ² = 16.836, p < 0.001).

Conclusion: Our data demonstrate that ALDH1 expression is not significantly associated with conventional clinicopathological parameters (such as age, TNM stage, or histological grade). Instead, it is associated with poorer survival on univariate analysis in TNBC patients. Its lack of association with clinicopathological factors suggests its potential utility as a supplementary prognostic indicator.

Background: Low-grade endometrial stromal sarcoma (LGESS) is a malignant stromal tumor characterized by an indolent clinical course, often with late recurrence or distant metastasis after a prolonged period of remission. These tumors can exhibit various lineage differentiations, making diagnosis challenging, especially in cases of remote recurrence. Most of these tumors are driven by fusions involving the JAZF1, SUZ12, and/or PHF1 genes.

Materials and methods: A case of metastatic endometrial stromal sarcoma was collected. Clinicopathologic and molecular features were documented.

Results: A senior lady with a remote history of an unknown uterine neoplasm. Imaging of the chest revealed bilateral, enlarging pulmonary nodules, which were histologically and immunohistochemically characterized as mesenchymal-like neoplastic cells with sex cord and neuroendocrine differentiation. RNA-based next-generation sequencing identified a complex JAZF1::DLG5::PHF1 fusion, confirming a diagnosis of metastatic endometrial stromal sarcoma with sex cord and neuroendocrine differentiation.

Conclusion: This report underscores the propensity of low-grade endometrial stromal sarcoma to metastasize after a prolonged period of remission, in which the tumor exhibited sex cord and unique neuroendocrine differentiation. We also present a complex fusion in which the DLG5 gene acts as a 'filler' to maintain the in-frame configuration.

Background: Appendiceal goblet cell adenocarcinoma (GCA) is a rare malignant tumor originating from the appendiceal mucosa, with an insidious onset. Its biological behavior lies between that of a carcinoid tumor and an adenocarcinoma, and it has a relatively favorable prognosis but a high risk of long-term recurrence and metastasis. The coexistence of primary cecal tubular adenocarcinoma and appendiceal GCA is extremely rare, and poses challenges in diagnosis and treatment.

Case demonstration: An 86-year-old male presented with a 2-month history of abdominal pain and diarrhea. Abdominal CT revealed thickening of the ascending colon wall, suggesting colon cancer. Laparoscopic right hemicolectomy was performed. Postoperative pathological examination confirmed primary cecal tubular adenocarcinoma combined with appendiceal goblet cell adenocarcinoma. Adjuvant chemotherapy was recommended, but the patient refused. Seven months later, lung metastasis was detected. Chemotherapy with "raltitrexed plus bevacizumab" was administered. During an 8-month follow-up, the patient remained in generally good condition.

Conclusion: Appendiceal GCA is more common in middle-aged and elderly women and is associated with a good overall survival rate but a high risk of long-term recurrence and metastasis, especially in patients with distant metastases. The coexistence of appendiceal GCA and cecal tubular adenocarcinoma is exceedingly rare. This case report analyzes the clinical features, histological morphology, immunohistochemistry, and differential diagnosis of this condition to enhance understanding of this rare disease.