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    Asioli, Sofia

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    Polymorphous Carcinoma

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    Polymorphous carcinoma is a very rare breast carcinoma with epithelial cell differentiation showing morphological features similar to those referred as polymorphous low-grade adenocarcinoma in salivary glands

    Tall Cell Variant of Papillary Breast Carcinoma

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    Tall cell variant of papillary carcinoma is a unique special type of primary breast neoplasm not related to a thyroid gland neoplasm, showing very frequently a triple-negative profile, but low aggressive potential and a good prognosis

    Paediatric-type diffuse low-grade gliomas: a clinically and biologically distinct group of tumours with a favourable outcome

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    : The WHO 2021 classification of central nervous system cancers distinguishes diffuse gliomas that arise in adults (referred to as the "adult type") and those that arise in children (defined as "paediatric") based on clinical and molecular characteristics."). However, paediatric-type gliomas may occasionally be present in younger adults and occasionally adult-type gliomas may occur in children. Diffuse low-grade paediatric glioma includes diffuse astrocytoma altered by MYB or MYBL1, low-grade polymorphic juvenile neuroepithelial tumour, angiocentric glioma, and diffuse low-grade glioma with an altered MAPK pathway. Here, we examine these newly recognised entities according to WHO diagnostic criteria and propose an integrated diagnostic approach that can be used to separate these clinically and biologically distinct tumor groups

    Two Unusual Cases of Oral Lichen Planus Arising After Oral Squamous Cell Carcinoma

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    Autoimmune diseases occur when the immune system fails to recognize self-antigens expressed on the body's own cells and attacks them. Oral lichen planus (OLP) is a chronic autoimmune mucocutaneous disease of the oral cavity characterized by white/red lesions. Considered a potentially malignant disorder, OLP evolution into oral squamous cell carcinoma (OSCC) is still a matter of debate. While chronic autoimmune inflammation is considered a potential risk factor for malignant transformation in many solid tumors, the opposite idea that cancer may trigger autoimmune responses remains controversial. We describe 2 patients who developed lesions clinically suggestive of OLP with histological evidence of lichenoid infiltration some time after OSCC removal, even in areas far from the neoplastic site. Neither patient had OLP before the diagnosis of OSCC, or reported exposure to OLP-associated etiologic factors, and neither. experienced tumor recurrence during follow-up. Our findings suggest that oral cancer remission may be linked to OLP development, but further studies are necessary to unveil the underlying mechanisms and possible prognostic implications

    Extracutaneous Merkel cell carcinomas harbor polyomavirus DNA

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    Merkel cell carcinoma is a neuroendocrine tumor, with characteristic morphological and immunohistochemical features. Originally reported as primary carcinoma of skin, it has been described in numerous other sites such as lymph nodes, oral cavity, breast, vaginal walls, and salivary glands. Recent studies have revealed in cutaneous Merkel cell carcinomas a clonally integrated polyomavirus, named Merkel cell polyomavirus. The aim of the present study was to verify the presence of Merkel cell polyomavirus in 5 cases of primary Merkel cell carcinomas of lymph nodes and 1 case of parotid gland to investigate similarities or differences among Merkel cell carcinomas from various sites. Cases studied were 5 primary Merkel cell carcinomas in lymph nodes, 1 in the parotid gland, and 12 in the skin. Twelve cases of primary and metastatic small cell carcinoma of the lung were also investigated. Immunohistochemistry for keratin 20, chromogranin, synaptophysin, and thyroid transcription factor 1 was performed in all cases. Viral DNA was studied using polymerase chain reaction assay and the products evaluated in agarose gel and sequenced. Cytokeratin 20 and Merkel cell polyomavirus were detected in all cases of primary Merkel cell carcinoma irrespective of their site of origin. On the contrary, all cases of pulmonary small cell carcinoma were negative for both Merkel cell polyomavirus and cytokeratin 20. It appears that cutaneous and extracutaneous Merkel cell carcinomas share similar histologic, immunohistochemical, and molecular features. This is further evidence that Merkel cell carcinomas are a multiorgan carcinoma and that Merkel cell polyomavirus might play a role in the pathogenesis of this neoplasm

    The Presence of Combined BRAF, TP53 and PIK3CA Mutations Have Prognostic Impact in the Hobnail Variant of Papillary Thyroid Carcinoma

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    Background: Hobnail variant of papillary carcinoma (HPTC) represents a recently described aggressive and rare group of moderately differentiated thyroid tumors with poorly understood pathogenesis. Molecular data in this group of tumors are heterogeneous, possibly reflecting the rarity of this entity, and there is the need for a more detailed molecular characterization of these tumors. The objective of the study was to define a comprehensive molecular typing of HPTC. Design: Twelve cases of HPTC, including eight primary tumors and four lymph node metastases, from eight patients selected through the files of University of Turin, Italy, have been screened for N-K-H-RAS, BRAF, TP53, PIK3CA and NOTCH1 gene mutations generating locus-specific amplicon libraries with tagged primers for the above genes. Sequencing was conducted on the Roche/454 GS junior system and quality-filtered reads were analyzed with the GS Amplicon Variant Analyzer (AVA 2.7, 454 Life Sciences). Molecular data were compared with clinical-pathologic data and follow up. Results: The patients included 5 women and 3 men. Ages ranged from 31 to 87 years. All twelve cases of HPTC showed more than 30% hobnail features. BRAF and HRAS mutations were by far the most common genetic alterations in HPTC (41.7% and 33.3% respectively). V600E BRAF mutation was detected both in primary and metastasis in two patients and in one primary tumor in one patient. TP53 deleterious mutations were found in two primary HPTC and in one metastasis. PIK3CA gene mutations was found in 3 cases and KRAS in one case. No mutation was detected in the NRAS and NOTCH1 genes. Interestingly, only the three patients (37.5%) who died of disease after a mean of 30.6 months, showed the same complex molecular characterization constituted by the presence of combined mutations. Conclusions: The present study confirms that HPTC are genetically heterogeneous and complex. The presence of combined mutations in BRAF, TP53 and PIK3CA genes appear to have a negative prognostic factor. The detection of these multiple mutations by molecular profiling should be clinically relevant for the prognostic stratification and treatment of these patients
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