BAP1-inactivated melanocytic tumour with borderline histopathological features (BAP1-inactivated melanocytoma): A case report and a reappraisal.

We describe a case of BRCA1-associated protein (BAP1)-inactivated melanocytic tumour (BIMT) in a 22-year-old woman, documenting for the first time with dermoscopy its sudden development with the onset of an atypical vascular pattern within a Miescher naevus. The tumour was histopathologically atypical because of the presence of confluent pleomorphism, solid sheets of cells and grouped mitotic figures: these features were consistent with a melanocytic neoplasm with intermediate morphology ('BAP1-inactivated melanocytoma'; BIM) between a BAP1-inactivated melanocytic naevus and a BAP1-inactivated melanoma. The atypical histopathological features of the present case were different from the criteria quoted for BIM in the World Health Organization 2018 classification of skin tumours.

Cancer Diagnostic Delay in Northern and Central Italy During the 2020 Lockdown Due to the Coronavirus Disease 2019 Pandemic.

OBJECTIVES: We performed data collection concerning the coronavirus disease 2019 (COVID-19) pandemic-related delay in the diagnosis of cancers to individuate proper corrective procedures. METHODS: A comparison was made among the number of first pathologic diagnoses of malignancy made from weeks 11 to 20 of 2018, 2019, and 2020 at seven anatomic pathology units serving secondary care hospitals in northern-central Italy. RESULTS: Cancer diagnoses fell in 2020 by 44.9% compared with the average number recorded in 2018 and 2019. Melanoma and nonmelanoma skin cancer represented 56.7% of all missing diagnoses. The diagnostic decrease in colorectal (-46.6%), prostate (-45%), and bladder (-43.6%) cancer was the most relevant among internal malignancies; for prostate, however, high-grade tumors were only moderately affected (-21.7%). CONCLUSIONS: Diagnosis of cutaneous malignancies was mostly affected by the lockdown; among internal malignancies, corrective actions were mostly needed for colorectal cancer and invasive bladder cancer.

Cancer diagnostic rates during the 2020 'lockdown', due to COVID-19 pandemic, compared with the 2018-2019: an audit study from cellular pathology.

AIMS: We performed an audit to evaluate the impact of the COVID-19 pandemic-related delay in the diagnosis of major cancers at a Pathology Unit of a Secondary Care Hospital Network in Italy. METHODS: A comparison was made among the number of first cellular pathological diagnoses of malignancy made from the 11th to the 20th week of the years 2018-2020. RESULTS: Cancer diagnoses fell in 2020 by 39% compared with the average number recorded in 2018 and 2019. Prostate cancer (75%) bladder cancer (66%) and colorectal cancer (CRC; 62%) had the greatest decrease. CRC was identified as carrying a potentially important diagnostic delay. CONCLUSIONS: For CRC corrective procedures (continuing mass screening tests; patient triage by family physicians; diagnostic procedures alternative to colonoscopy; predictive evaluation on biopsy samples) were advised. Our simple audit model is widely applicable to avoid pandemic-related delay in clinical diagnosis of cancer.

Sebaceous Carcinoma of the Breast: Fact or Fiction? A Case Report and a Review of the Literature.

Introduction. Previously considered an exceedingly rare entity, sebaceous carcinoma of the breast is now regarded in the World Health Organization 2019 classification as a "special histopathological pattern" of invasive breast carcinoma of no special type. Case Description. In this article, we report the case of a fine needle aspiration cytology and the histopathological features of a breast carcinoma with clear-cut morphological features suggesting sebaceous differentiation, but showing no positive staining with the anti-adipophilin antibody. Conclusions. A morphologically clear-cut sebaceous differentiation is not invariably associated with adipophilin positivity; moreover, in breast carcinoma, adipophilin positivity does not automatically imply sebaceous differentiation. At present, immunomorphological evidence for the recognition of sebaceous carcinoma as a "special type" breast carcinoma subtype is too weak.

Occupational Argyria of the Nasal Mucosa.

A biopsy specimen from the nasal mucosa of a 37-year-old man disclosed a subepithelial accumulation of black granules mainly running parallel to the surface in the absence of any inflammatory infiltrate. Since the mucosal pigment was negative with Perls' stain and resisted to melanin bleach, an exogenous pigmentation was suspected. The biopsy specimen had been taken because of a diffuse steel-blue pigmentation of the nasal mucosa, incidentally discovered during routine clinical examination. A diagnosis of occupational argyria of the nasal mucosa was finally made since the patient was a silver cleaner. Argyria is a rare cause of nasopharyngeal mucosal pigmentation; it is not a precancerous condition, but it can be mistaken for a melanosis or a melanocytic tumor both clinically and histopathologically. Clinicopathological correlation is mandatory, since the final diagnosis is based on a history of chronic silver exposure.

Overexpression of transient receptor potential mucolipin-2 ion channels in gliomas: role in tumor growth and progression.

The Transient Receptor Potential (TRP) superfamily consists of cation-selective and non-selective ion channels playing an important role both in sensory physiology and in physiopathology in several complex diseases including cancers. Among TRP family, the mucolipin (TRPML1, -2, and -3) channels represent a distinct subfamily of endosome/lysosome Ca2+ channel proteins. Loss-of-function mutations in human TRPML-1 gene cause a neurodegenerative disease, Mucolipidosis Type IV, whereas at present no pathology has been associated to human TRPML-2 channels. Herein we found that human TRPML-2 is expressed both in normal astrocytes and neural stem/progenitor cells. By quantitative RT-PCR, western blot, cytofluorimetric and immunohistochemistry analysis we also demonstrated that TRPML-2 mRNA and protein are expressed at different levels in glioma tissues and high-grade glioma cell lines of astrocytic origin. TRPML-2 mRNA and protein levels increased with the pathological grade, starting from pylocitic astrocytoma (grade I) to glioblastoma (grade IV). Moreover, by RNA interference, we demonstrated a role played by TRPML-2 in survival and proliferation of glioma cell lines. In fact, knock-down of TRPML-2 inhibited the viability, altered the cell cycle, reduced the proliferation and induced apoptotic cell death in glioma cell lines. The DNA damage and apoptosis induced by TRPML-2 loss increased Ser139 H2AX phosphorylation and induced caspase-3 activation; furthermore, knock-down of TRPML-2 in T98 and U251 glioma cell lines completely abrogated Akt and Erk1/2 phosphorylation, as compared to untreated cells. Overall, the high TRPML-2 expression in glioma cells resulted in increased survival and proliferation signaling, suggesting a pro-tumorigenic role played by TRPML-2 in glioma progression.