Human Pathology Reports最新文献

Three cases of primary thymic neuroendocrine tumors resembling a vascular neoplasm were reported as “Angiomatoid neuroendocrine carcinoma of the thymus.” Recently, we encountered another case of a thymic neuroendocrine cell tumor that grossly mimicked a vascular neoplasm. A man in his early 60 s, who presented with right thoracic pain, was admitted to our hospital. He had a 45 × 35 mm vascular-rich tumor in the thymus and underwent total thymectomy. Histopathological examination revealed that the tumor was composed of many blood‑filled caverns lined with stratified conventional neuroendocrine tumor cells expressing insulinoma-associated protein 1 and synaptophysin immunoreactivity. Notably, the blood-filled caverns were not lined with CD31-positive endothelial cells, as previously reported. By contrast, the caverns were focally lined with cells expressing SRY-Box Transcription Factor 17, which is well characterized to drive the conversion of fibroblast progenitor cells to endothelial cells by its transcriptional property. However, SRY-Box Transcription Factor 17 immunoreactivity was not restricted to the nucleus in blood-filled caverns and was also detected in the nucleus of endothelial cells in tumor vessels in the canonical carcinoid area. Dismaturation of endothelial cells might participate in the angiomatoid features of thymic neuroendocrine cell tumors.

Calcifying fibrous tumors (CFTs) are benign mesenchymal lesions primary to many anatomic sites, but are commonly identified in the abdomen, particularly the luminal gastrointestinal (GI) tract, of young or middle-aged adults. The clinical presentation of CFTs is largely non-specific and relegated to the site of origin and, thus, they are often incidentally identified via radiology. CFTs are managed with minimally invasive surgical management and are associated with favorable long-term outcomes. Relative to other GI organs, CFTs arising from the esophagus are seldom reported and only described heretofore in occasional case reports. We report a symptomatic CFT of the upper thoracic esophagus with discussion of clinicopathologic features including radiology, histology and immunohistochemistry and formulation of a differential diagnosis pertinent to mesenchymal tumors of the esophagus that may mimic CFTs. A brief review of other rare reports of esophageal CFTs is also provided.

Thyroid metastasis from uveal melanoma is a rare occurrence. We report the case of a 56-year-old woman who was diagnosed with choroidal melanoma, and treated with photodynamic therapy and plaque brachytherapy. An incidental right thyroid lesion was detected during her initial diagnostic workup, for which she subsequently underwent a hemithyroidectomy. Histological examination showed a follicular adenoma containing multiple foci of metastatic choroidal melanoma, representing a unique case of tumour-to-tumour metastasis from a choroidal melanoma to a follicular adenoma of the thyroid. This case highlights the importance of considering metastatic disease as a differential for thyroid lesions arising in patients with a history of malignancy.

Background

A ductal adenoma is a rare benign epithelial tumour of the breast. Its origin is unclear, but some authors consider that they arise from intraductal papilloma that undergoes sclerosis and lose their papillary architecture.

Case presentation

A 43-year-old woman presented a palpable mass in the right breast. Mammography revealed a well-demarcated nodule of 9 mm. Histological examination showed a nodular proliferation of glands without papillary structures circumscribed by a dense fibrous wall. Glandular tubules were round or ovoid. The epithelial cells showed no atypia and mitosis were absent. Gene mutation testing has been performed.

Conclusion

To the best of our knowledge, we reported the first case of a ductal adenoma with AKT1 and EGFR mutations. We also reviewed the literature concerning the molecular profile of ductal adenoma and papillary lesions.

Background

Multiple primary malignant tumors (MPMTs) is simultaneous occurrence of two or more malignancies in different sites with different histopathological type and origin.

Diagnosis and management of those patients are challenging due to uncertain guidelines.

Case Presentation

A 63-year-old postmenopausal female patient of synchronous MPMTs in which the patient was diagnosed with a malignant mass in recto-sigmoid colon and a synchronous breast cancer was incidentally discovered during clinical and radiological patient evaluation.

Treatment

Both colon procedure and breast procedure were performed together in one setting. The anterior resection of the reco-sigmoid mass and colocolonic anastomosis were done.

Conclusion

Synchronous colon and breast cancer treatment plan should be individualized for each patient through a complete preoperative evaluation and MDT meeting to provide the best possible treatment for the patient.

Odontogenic myxoma is a benign odontogenic tumor of ectomesenchymal origin. In adults, it is the third most frequent odontogenic tumor, but in children, this tumor is uncommon. This paper aims to report an uncommon case of an odontogenic myxoma in a 10-year-old girl. The patient was referred to a children's hospital presenting with asymptomatic facial asymmetry, noticed six months earlier. Intraoral examination showed a tumoral lesion in the right posterior maxillary region, with an expansion of the buccal bone plate, without ulceration or mucosal color change. Computed tomography revealed a hypodense lesion with extensive bone involvement in the right maxillary region, with the displacement of the tooth germ of the upper right third molar, involving the maxillary sinus, orbital floor, and nasal cavity. An incisional biopsy was performed. Gross examination revealed a grayish-white lesion, with a firm-elastic consistency. The histological sections revealed a non-encapsulated neoplasm formed by spherical and spindle-shaped cells, with a stellate arrangement in a myxoid stroma with variable amounts of collagen. There was no evidence of odontogenic epithelium. The diagnosis was odontogenic myxoma. An enucleation with vigorous curettage of the margins of the lesion was performed, and no recurrence was observed in two years of postoperative follow-up.

An inflammatory fibroid polyp (IFP) of the gastrointestinal tract is a localized, benign mesenchymal lesion consisting of spindle-shaped stromal cells, eosinophilic granulocytes, and some lymphocytes and plasma cells. The discovery of a frequent mutation of the platelet-derived growth factor receptor A (PDGFRA) gene was the first hint of a gene-regulating process in IFPs. The aim of this study was to investigate the interaction of inflammatory processes and the role of mutation and expression of the PDGFRA gene in the development of IFPs for the first time. We used immunohistochemistry to analyze the composition of inflammatory cells and next generation sequencing (NGS) to provide a broad overview of gene mutations.

We report on 29 cases of IFP. The mean age, gender differences, and localization were compatible with the literature. Spindle cell histomorphology was present in 79% of cases showing a typical onion skin-like perivascular arrangement and significantly high CD34 positivity (p = 0.002, Fisher’s exact test). Eosinophilic granulocytes were present in an average density of 60 ± 49/high power field (HPF) (range: 15–200), and there was a significantly higher rate of IFPs larger than 2 cm in size (p = 0.018, Wilcoxon test). All but one cases could be analyzed by NGS. Mutations were observed in 17 cases (60.7%), including 13 (46.4%) mutations in the PDGFRA gene. Among the gastric lesions, mutations were found in exon 18 of the PDGFRA gene with amino acid exchange (Asp842Val) for eight out of 10 cases and in exon 12 in two cases. All three cases in the small intestine revealed mutation of the PDGFRA gene in exon 12. We found no PDGFRA mutation in our colonic cases. PDGFRA expression was significantly correlated with mutations of the same gene (p = 0.005, Fisher’s exact test) and especially with mutations in exon 12 of the same gene (p < 0.001, Fisher’s exact test). Interestingly, three of our cases (10.3%) without mutation or expression of the PDGFRA gene revealed an unusually high concentration of IgG-positive plasma cells (average: 140 ± 26/HPF, range: 110–160) and IgG4-positive plasma cells (average: 87 ± 21/HPF, range: 60–100). For comparison, an IgG4/IgG ratio of more than 0.4 is commonly observed in IgG4-related diseases. Our molecular results were in accordance with 113 genetically analyzed cases published to date. There was a correlation between the IFP site and mutation variants of the PDGFRA gene. IFPs were localized in the stomach in 49.1% of cases, in the small intestine in 47.3%, and in the colon in 3.6%. Exon 12 of the PDGFRA gene was mutated in 41.1% of cases and primarily occurred in the small intestine (82.6%). Exon 18 was mutated in 22.3% of cases and primarily occurred in the stomach (80.0%). The mutated codon interval 566–571 in exon 12 and codon 842 in exon 18 were compatible, as observed in a gastrointestinal stromal