A rare case of spinal epidural sarcoidosis: case report and review of the literature.

Sarcoidosis is a rare systemic disease characterized by growth and organization of inflammatory cells in a granuloma. Granulomas can localize in any parts of the human body. The main localization is represented by lungs, lymph nodes, eyes and skin. Any organ, however, can be affected. Central nervous system (CNS) represents a rare localization of sarcoidosis, in fact, only 1% of patient with sarcoidosis present brain and/or spinal cord localization of the granulomas associated with this disease. This condition takes the name of Neurosarcoidosis. Its diagnosis and management pose a significant challenge, as its clinical manifestation and appearance in imaging studies are difficult to distinguish from more common lesion of the spinal cord. In this paper, we present the case of a 45-year-old woman who presented back pain associated with neurologic signs of myelopathy. Spinal cord MRI documented a T2 hyperintense signal around medullary conus. She underwent a gross total removal of the lesion. Histopathological examination revealed spinal sarcoidosis. Next total body CT scan did not show other localization of the disease. The aim of the present paper is to report a very rare case of spinal epidural sarcoidosis, actually only five cases have been described, without other localization of the disease. The present article underlines the difference between this forms of spinal sarcoidosis compared to intradural extramedullary and intramedullary spinal sarcoidosis.

PIK3CA somatic mutation in sinonasal teratocarcinosarcoma.

Sinonasal Teratocarcinosarcoma (SNTCS) is a rare and histologically heterogeneous tumor of uncertain origin and unknown molecular pathogenesis. Its location and aggressiveness, with frequent recurrences, high rate for metastasis and short mean survival, make SNTCS a tumor highly difficult to treat. Thus, the identification of underlying genetic changes could potentially provide successful adjuvant or alternative precision medicine treatment options for patients with this tumor. We report here a 55-year-old male with a naso-ethmoidal SNTCS that invaded right maxillary sinus, orbital cavity and cranial anterior fossa and that was treated with surgery followed by radiotherapy and chemotherapy in which we evaluated the mutational profile by multigene panel sequencing. Tumor and adjacent normal mucosa were screened for hotspots and targeted regions of 22 cancer related genes by multigene panel sequencing. The analysis revealed a somatic pathogenic mutations in the PIK3CA gene (p.His1047Leu) and a germline alteration in the DDR2 gene (p.Pro476Leu) whose oncogenic function is considered unknown. This study suggests the involvement of PIK3CA gene mutation in SNTCS tumorigenesis highlighting a potential target for individualized molecular therapy for patients with this tumor.

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.

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.

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.

A case of acanthosis nigricans in a HIV-infected patient.

BACKGROUND: To date, very little information is available concerning the relationship between acanthosis nigricans (AN) and infection with human immunodeficiency virus type 1 (HIV-1). CASE PRESENTATION: Herein, we report the case of a middle-aged man admitted for fever and progressively worsening dyspnea in the context of an opportunistic pneumonia and firstly diagnosed with acquired immunodeficiency syndrome (AIDS). At the time of diagnosis, physical examination revealed the presence of a palpable, hyperpigmented skin lesion on the left areola with surface desquamation and velvety texture consistent with AN. Of note, the most common primary etiologies related to AN were excluded and the complete regression of the skin lesion was observed once antiretroviral therapy was started. CONCLUSION: This is the second report of AN found in patients with AIDS and apparently responsive to prolonged antiretroviral treatment. Possible explanations of this association are still not completely understood, probably related to virus-induced changes in lipid metabolism. Our experience suggests that HIV testing should always be considered in the setting of apparently idiopathic AN.

Eosinophilic folliculitis of the scalp associated with PD-1/PDL1 inhibitors.

BACKGROUND: Immune checkpoint inhibitors are monoclonal antibodies which target immune "checkpoints" enhancing T cell-mediated cytotoxic and antitumor responses. Together to the amazing results, these drugs are associated with some peculiar adverse events called immune-related adverse events. Alopecia is one of these. It is usually reported to be clinically and histologically similar to alopecia areata. AIMS: We report a case of eosinophilic folliculitis of the scalp occurred during nivolumab therapy, its management and some pathogenetic hypotheses. PATIENT: Herein, we report the first case of eosinophilic folliculitis of the scalp occurred during nivolumab therapy, firstly appeared as a lichen planopilaris. Topical steroids and fusidic acid cream were applied with partial benefit and a scaring outcome. No discontinuation of nivolumab was required. CONCLUSION: Immune checkpoint inhibitors induced inflammatory response leads to the exposure of hair follicle antigens and a consequent loss of Immuno Privilege. We hypothesize a role of steroids in deviating a primarily lichenoid reaction toward a folliculitis.

Isoradiotopic response of discoid lupus after radiotherapy: A case report and review of the literature.

Radiotherapy is frequently associated with a great number of collateral effects, which can affect the skin and its appendages. In addition to more common side effects, like radiodermatitis, other cutaneous conditions are less known and often they are underdiagnosed. Among these, isoradiotopic response is one of the rare radiotherapy-associated phenomena. This term refers to the appearance of a secondary dermatosis in a previously irradiated district. The term was used for the first time by Shurman et al. to describe a case of lichen ruber planus arising in the genital area after radiotherapy for squamous cell carcinoma. The pathologic mechanism is not completely clear, but a few hypotheses have been proposed. Alterations in the local lymphatic drainage, in the nervous system and the immune microenvironment have all been called into play (the immunocompromised district theory). We present the case of a male patient that developed discoid lupus on a previously irradiated cutaneous area and review the literature, highlighting the numerous possible manifestations of this phenomenon.

Breast cancer subtypes affect the nodal response after neoadjuvant chemotherapy in locally advanced breast cancer: Are we ready to endorse axillary conservation?

We evaluated the impact of breast cancer subtypes on pathologic complete response (pCR) in 181 patients with positive nodes undergoing neoadjuvant chemotherapy (NAC). After NAC, patients underwent surgery, with sentinel lymph node biopsy (SLNB) or axillary dissection (ALND). In 28.2% of cases a pCR was achieved, with the highest rate in Her2+ and triple negative tumors. Overall, nodal pCR was more frequent than breast pCR (P = 0.003) with higher percentages in Her2+ and LLB-Her2+ (P < 0.05). In the Her2+ group, nodal pCR was observed only with breast pCR. Thus, in Her2+ tumors, breast pCR predicts node pCR, supporting the use of SLNB in this subgroup to stage the axilla avoiding ALND.

Infundibuloneurohypophysitis associated with autoimmune thrombocytopenia and chiasmal syndrome: a case report.

Lymphocytic hypophysitis is an uncommon autoimmune disease. It may involve the adenohypophysis, neurohypophysis and pituitary stalk. It is most often encountered in pregnant women. Its diagnosis and management pose a significant challenge, as its clinical manifestation and appearance in imaging studies are difficult to distinguish from more common lesion of the sellar region (e.g., pituitary adenomas). We present the case of a 42-year-old man who presented with a chiasmatic syndrome, diabetes insipidus and hypopituitarism. Brain MRI documented a sellar lesion with suprasellar extension and optic chiasm dislocation. He underwent an endoscopic endonasal transsphenoidal resection of the mass. Histopathological examination revealed a lymphocytic hypophysitis. Visual symptoms improved dramatically postoperatively with permanent diabetes insipidus and panhypopituitarism. We discuss the indication for surgical resection in patients with inflammatory lesions extending to the suprasellar region associated with visual impairment.

Detection of pituitary antibodies by immunofluorescence: approach and results in patients with pituitary diseases.

CONTEXT: Pituitary antibodies have been measured mainly to identify patients whose disease is caused or sustained by pituitary-specific autoimmunity. Although reported in over 100 publications, they have yielded variable results and are thus considered of limited clinical utility. OBJECTIVES: Our objectives were to analyze all publications reporting pituitary antibodies by immunofluorescence for detecting the major sources of variability, to experimentally test these sources and devise an optimized immunofluorescence protocol, and to assess prevalence and significance of pituitary antibodies in patients with pituitary diseases. STUDY DESIGN AND OUTCOME MEASURES: We first evaluated the effect of pituitary gland species, section fixation, autofluorescence quenching, blockade of unwanted antibody binding, and use of purified IgG on the performance of this antibody assay. We then measured cross-sectionally the prevalence of pituitary antibodies in 390 pituitary cases and 60 healthy controls, expressing results as present or absent and according to the (granular, diffuse, perinuclear, or mixed) staining pattern. RESULTS: Human pituitary was the best substrate to detect pituitary antibodies and yielded an optimal signal-to-noise ratio when treated with Sudan black B to reduce autofluorescence. Pituitary antibodies were more common in cases (95 of 390, 24%) than controls (3 of 60, 5%, P = .001) but did not discriminate among pituitary diseases when reported dichotomously. However, when expressed according to their cytosolic staining, a granular pattern was highly predictive of pituitary autoimmunity (P < .0001). CONCLUSION: We report a comprehensive study of pituitary antibodies by immunofluorescence and provide a method and an interpretation scheme that should be useful for identifying and monitoring patients with pituitary autoimmunity.