Objective: Basal cell carcinoma (BCC) is the most common malignancy in humans and represents a growing public health care problem. The major etiological factors contributing to BCC development are exposure to ultraviolet radiation and genetic alterations. BCC is primarily caused by dysregulation of sonic Hedgehog (HH) signaling pathway in basal cells of the skin. BCC can be classified into low risk non-aggressive and high risk aggressive subtypes. BCC subtypes differentiation is essential for prognosis and for better disease management and treatment strategies. The aim of this study was to assess the correlation between PTCH1 protein expression level and the aggressiveness of BCC histopathology. Methods: Archival paraffin embedded blocks containing BCC were retrieved from a cohort of 101 patients. Immunohistochemistry staining was performed to assess the expression level of PTCH1 which is a key component of Hedgehog pathway. Results: 101 paraffin embedded samples were evaluated and classified as high risk and low risk BCC subtypes by histopathological finding. High risk BCC subtypes were found in 40 samples (39.6%) and low risk subtypes were identified in 61 samples (60.4%). Nodular was the most frequent subtype which was found in (56/ 101), followed by infiltrative (22/101) and micronodular (14/ 101) subtypes. Positive PTCH1 expression was found highest in nodular subtypes (46.5%). Conclusion: In this study, the correlation between low risk or high risk BCC subtypes and PTCH1 expression level was not statistically significant (p>0.05), but the frequency of positive PTCH1 expression was found to be higher in low risk subtypes than high risk BCC subtypes.
Tagraxofusp, a CD123-based-targeted immunotherapy, was recently approved to treat blastic plasmacytoid dendritic cell neoplasm (BPDCN) with excellent response. Also, a subset of BPDCN shows resistance to tagraxofusp. These resistant cases continue to express CD123, which forms the basis of the continued utility of tagraxofusp in newer combination chemotherapies to overcome resistance in BPDCN. Herein, we report a case of an elderly male with BPDCN that achieved complete remission on initial primary treatment with tagraxofusp. However, BPDCN relapsed after 1.5 years while on treatment, with loss of CD123 expression. At relapse, the neoplasm was comprehensively immunophenotyped by flow cytometry (performed on both peripheral blood and bone marrow specimen) and by immunohistochemical evaluation of the bone marrow clot section. The neoplasm at relapse was diagnostic of BPDCN with a lack of CD123 expression. This case highlights a potential limitation of current and upcoming tagraxofusp-based multidrug therapies, at least in a subset of refractory BPDCN. We believe our report will serve as a sentinel to incite future investigations involving alternate resistance mechanisms in BDPCN.
Introduction/Objective Rapidly progressive glomerulonephritis is characterized by sudden decline in renal function and glomerular crescents. Crescentic glomerulonephritis develops along three pathways: glomerular basement membrane antibody in situ deposition , circulating immune complex glomerular deposition, or pauci-immune (typically ANCA-associated). For the latter, histopathologic diagnosis is more frequently obtained in adults than in children. Therefore, tissue examination opportunities in infants and neonates is exceptionally rare. Methods/Case Report Here we report the autopsy findings from a 4-week-old infant who was part of dichorionic, diamniotic twin pregnancy and born prematurely at 34 weeks to a 30-year-old G6P4 mother. The infant initially presented with labored breathing and poor oral intake, but subsequently developed Enterobactor meningoencephalitis and sepsis, leading to extensive strokes andstatus epilepticus. An infectious source was not identified clinically, and evaluation for an underlying immunodeficiency was indeterminant. The mother had no known autoimmune diseases or antenatal infections. At autopsy, kidney histology showed focal fibrinoid necrosis and/or cellular and fibrocellular crescents (~5%), especially mid to deep cortex. Intracapillary hypercellularity was minimal to absent. Mesangial matrix was not expanded. The interstitium contained patchy inflammatory infiltrates (mononuclear > polymorphonuclear). Direct immunofluorescence (IF) on pronase-treated paraffin sections did not show glomerular deposition of IgG, IgA, or IgM. Electron microscopy (EM) did not show electron dense deposits despite autolysis. Results (if a Case Study enter NA) NA. Conclusion The absence of immune complex deposition by IF and dense deposits by EM favors the rare diagnosis of pauci-immune glomerulonephritis in this case of neonatal crescentic glomerulonephritis associated with Enterobactor meningoencephalitis and sepsis, with no associated maternal autoimmune disease or antenatal infections.
Background: Tagraxofusp, a CD123 based targeted immunotherapy, was recently approved to treat blastic plasmacytoid dendritic cell neoplasm (BPDCN) with excellent response. Also, a subset of BPDCN showed resistance to tagraxofusp. These resistant cases continue to express CD123, which forms the basis of the continued utility of tagraxofusp in newer combination chemotherapies to overcome resistance in BPDCN. Case presentation: Herein we report a case of an elderly male with BPDCN that initially achieved complete remission on primary treatment with tagraxofusp. However, BPDCN relapsed after 1.5 years while on treatment with loss of CD123 expression. Conclusions: This case highlights a potential limitation of current and upcoming tagraxofusp based therapies, at least in a subset of refractory BPDCN. We believe our report will serve as a sentinel to incite future investigations involving alternate resistance mechanisms in BDPCN.
Objectives: The purpose of this study is to evaluate clinical information, laboratory results, and pathologic findings of patients with amyloidosis involving larynx, oral cavity, and pharynx from our institute. Methods: A total of 39 specimens from 28 patients were retrieved from 2000 to 2020. Data collection included clinical presentation, radiographic, laboratory results, and pathologic findings. Results: A total of 12 patients had laryngeal amyloidosis and true vocal cord was the most common location. Protein electrophoresis detected monoclonal protein in 10% (1/10) of patients tested. Two patients had hematopoietic disorder (2/12, 17%) and another patient had a peptide profile consistent with amyloid transthyretin (ATTR) detected by mass spectrometry. Twelve patients showed amyloidosis in the oral cavity with 75% involving the tongue. Monoclonal protein was found in 89% of cases tested. Nine patients (9/12, 75%) had systematic involvement including 6 with hematopoietic malignancy and 3 with biopsy-confirmed systemic light chain amyloidosis. Compared to the laryngeal amyloidosis, amyloid deposition in oral cavity had a significant higher association with systematic disease ( P < .01). Pharyngeal amyloidosis was seen in 7 patients. Three of 6 patients tested (3/6, 50%) were found to have biopsy-confirmed hematopoietic malignancy. Conclusions: Laryngeal amyloidosis is mostly a localized disease. Amyloidosis involving oral cavity is associated with significantly higher risk of systematic involvement which warrants a comprehensive laboratory, radiographic, and pathologic workup. There is limited data about pharynx amyloidosis. Oropharynx and hypopharynx amyloidosis appear to be more likely associated with underlying hematologic malignancy compared to nasopharynx involvement.
Introduction/Objective SMARCA4-deficient thoracic sarcoma/carcinoma is a highly aggressive neoplasm characterized by SMARCA4 (chromatin remodeling complex) deficiency. It affects mostly smokers (85%) with a broad age range of presentation (mean age: 50 years). Most patients present with advanced disease and extensive involvement of thoracic structures. The cytomorphologic features of this entity have not been fully described. Methods/Case Report A 59-year-old female, former smoker, with a prior history of lung adenocarcinoma, presented with a new 2.8 cm right infrahilar nodule concerning for recurrence. The second patient, a 54-year-old male who is a smoker, presented with an 8.0 cm right perihilar mass extending into the right lung and mediastinum with encasement of the right main pulmonary artery. Cytologically, the smears from both aspirates were comprised of single cells and loosely cohesive clusters of ovoid to spindle cells with scant to moderate cytoplasm, stippled chromatin, and focally prominent nucleoli. Numerous mitotic figures were appreciated. Necrosis was present within the smear background. The cell block sections showed tumor cells arranged in glandular and focal papillary architecture with a myxoid background. In one case, intermediate to large-sized cells with focal cytoplasmic clearing and patchy extracellular metachromatic material were also noted. Rhabdoid morphology was not appreciated. Immunohistochemically, the tumor cells were at least focally positive for vimentin, TLE-1, SALL4, CK AE1/AE3 and TTF-1, while being negative for CK7, CK20, Napsin-A, SOX-10, p40 and neuroendocrine markers. Both tumors showed SMARCA4 (BRG1) loss of expression. Results (if a Case Study enter NA) N/A Conclusion While the cytomorphologic findings of SMARCA4-deficient thoracic sarcomas/carcinomas are not specific, the FNA diagnosis should be considered for any poorly differentiated neoplasm involving the lungs or mediastinum which should prompt an appropriate immunocytochemical work-up that includes SMARCA4/BRG1 assessment
Introduction/Objective Amyloidosis is characterized by extracellular accumulation of insoluble amyloid fibril. Amyloid deposition in the head and neck area is rare. Methods/Case Report In this study, we reviewed 34 specimens from 26 patients including: 18 specimens from the larynx and/or pharynx (13 patients) and 16 specimens from the oral cavity (13 patients). The clinical presentation, related laboratory results, and pathologic finding were reviewed. Results (if a Case Study enter NA) Within the 18 laryngeal specimens were: 10 glottic, 4 supraglottic, 3 nasopharyngeal or pharyngeal wall, and 1 subglottic. Of the 16 cases from oral cavity there were 9 lingual, 3 labial, 2 palatine, 1 tonsillar, and 1 alveolar ridge. Ten out of 13 patients with laryngeal amyloid deposition had protein electrophoresis performed and only 3 of the patients had monoclonal light chain detected. Among these three patients, one had multiple myeloma, one had lymphoplasmacytic lymphoma and one had the diagnosis of plasma cell dyscrasia. Interestingly, in the patients with oral cavity amyloidosis, 10 out of 11 patients tested had abnormal findings. Six of the patients had monoclonal light chain, two demonstrated monoclonal peak of IgG kappa, one with IgG lambda and one with IgA lambda. Among these 10 patients, 6 of them had biopsy-proved or history of multiple myeloma, one patient had marginal zone lymphoma, two patients had systematic amyloidosis. Only one patient did not have any malignancy or systematic involvement identified. Conclusion In our small cohort, the most common location of amyloid deposition in the larynx is glottis. When it involves the oral cavity, tongue is the most common location. Compared to the larynx, amyloid deposition in the oral cavity tends to be associated with hematopoietic malignancy or systematic involvement, although this finding needs to be confirmed by a larger scale of study.
Inflammatory fibroid polyp (IFP), initially considered a reactive process, is now recognized as a benign mesenchymal neoplasm of the gastrointestinal tract. We report a case of a 68-year-old woman with medically refractory Crohn disease that presented with intussusception requiring surgical intervention. The resection revealed a jejunal mass consisting of a submucosal proliferation of bland spindle cells in a fibrous stroma infiltrated by numerous eosinophils. By immunohistochemistry, the lesion was positive for vimentin and negative for desmin, smooth muscle actin (SMA), S-100, CD117, DOG1, ALK (D5F3), Melan-A, HMB-45, CD34, and STAT6. Ki-67 proliferative index was low (<1%). The mass was classified as IFP by its characteristic morphology and associated eosinophilia. IFP should be considered in the differential diagnosis of adults with intussusception or bowel obstruction. Definitive treatment typically requires surgical resection of the involved bowel segment.
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