Distinctive Histologic Findings Research Articles

Recurrent Wnt Pathway and ARID1A Alterations in Sinonasal Olfactory Carcinoma

Sinonasal tumors with neuroepithelial differentiation, defined by neuroectodermal elements reminiscent of olfactory neuroblastoma (ONB) and epithelial features such as keratin expression or gland formation, are a diagnostically challenging group that has never been formally included in sinonasal tumor classifications. Recently, we documented that most of these neuroepithelial neoplasms have distinctive histologic and immunohistochemical findings and proposed the term “olfactory carcinoma” to describe these tumors. However, the molecular characteristics of olfactory carcinoma have not yet been evaluated. In this study, we performed targeted molecular profiling of 23 sinonasal olfactory carcinomas to further clarify their pathogenesis and classification. All tumors included in this study were composed of high-grade neuroectodermal cells that were positive for pankeratin and at least 1 specific neuroendocrine marker. A significant subset of cases also displayed rosettes and neurofibrillary matrix, intermixed glands with variable cilia, peripheral p63/p40 expression, and S100 protein-positive sustentacular cells. Recurrent oncogenic molecular alterations were identified in 20 tumors, including Wnt pathway alterations affecting CTNNB1 (n = 8) and PPP2R1A (n = 2), ARID1A inactivation (n = 5), RUNX1 mutations (n = 3), and IDH2 hotspot mutations (n = 2). Overall, these findings do demonstrate the presence of recurrent molecular alterations in olfactory carcinoma, although this group of tumors does not appear to be defined by any single mutation. Minimal overlap with alterations previously reported in ONB also adds to histologic and immunohistochemical separation between ONB and olfactory carcinoma. Conversely, these molecular findings enhance the overlap between olfactory carcinoma and sinonasal neuroendocrine carcinomas. A small subset of neuroepithelial tumors might better fit into the superseding molecular category of IDH2-mutant sinonasal carcinoma. At this point, sinonasal neuroendocrine and neuroepithelial tumors may best be regarded as a histologic and molecular spectrum that includes core groups of ONB, olfactory carcinoma, neuroendocrine carcinoma, and IDH2-mutant sinonasal carcinoma.

Argon plasma coagulation: an effective treatment for solitary rectal ulcer syndrome.

Solitary rectal ulcer syndrome (SRUS) is a very rare benign defecation disorder characterized by distinct clinical features and histological findings. Conventional measures are often shown to be ineffective for the treatment of ulcers. Argon plasma coagulation (APC) has recently been shown to be an effective treatment method for SRUS that is refractory to conventional therapy. Determine the efficacy of APC treatment for patients suffering from SRUS. Prospective, single center. Gastroenterology department at a military hospital in Pakistan. This prospective study included patients with symptoms of rectal bleeding diagnosed with SRUS. Patients were recruited on the basis of clinical, sigmoidoscopic, and histological findings from September 2022 to March 2023. All patients had received conventional treatment initially and were assessed for persistence of symptoms. APC was performed only for those patients who were refractory to standard treatment. Effectiveness of APC for resistant SRUS. 99 patients. The 99 patients diagnosed with SRUS had a median (minimum-maximum) age of patients was 20 (9-41) years. All the patients had undergone conventional treatment, which included the use of laxatives, drinking plenty of water and practicing biofeedback. After this standard treatment, 19 patients (19.19%) recovered fully. However, the remaining 80 patients did not show improvement and underwent APC sessions, out of which 61 patients (76.3%) achieved complete healing of ulcers, while the remaining 19 (23.8%) had no improvement at all. None of the patients reported post session complications. APC is an effective therapy with very promising results for rectal ulcer hemorrhage. It also helps with ulcer healing and alleviates clinical symptoms. However, further controlled investigations are required to consolidate the use of APC in SRUS patients. Single centered.

Neuroimaging of pediatric tumors of the sellar region-A review in light of the 2021 WHO classification of tumors of the central nervous system.

Sellar/suprasellar tumors comprise about 10% of all pediatric Central Nervous System (CNS) tumors and include a wide variety of entities, with different cellular origins and distinctive histological and radiological findings, demanding customized neuroimaging protocols for appropriate diagnosis and management. The 5th edition of the World Health Organization (WHO) classification of CNS tumors unprecedently incorporated both histologic and molecular alterations into a common diagnostic framework, with a great impact in tumor classification and grading. Based on the current understanding of the clinical, molecular, and morphological features of CNS neoplasms, there have been additions of new tumor types and modifications of existing ones in the latest WHO tumor classification. In the specific case of sellar/suprasellar tumors, changes include for example separation of adamantinomatous and papillary craniopharyngiomas, now classified as distinct tumor types. Nevertheless, although the current molecular landscape is the fundamental driving force to the new WHO CNS tumor classification, the imaging profile of sellar/suprasellar tumors remains largely unexplored, particularly in the pediatric population. In this review, we aim to provide an essential pathological update to better understand the way sellar/suprasellar tumors are currently classified, with a focus on the pediatric population. Furthermore, we intend to present the neuroimaging features that may assist in the differential diagnosis, surgical planning, adjuvant/neoadjuvant therapy, and follow-up of this group of tumors in children.

Benign fibrohistiocytic jaw lesions: a 48-year clinicopathologic analysis and review of the literature

Intra-osseous fibrohistiocytic lesions have long been reported in the literature; evidence suggests they represent a heterogeneous group of reactive and neoplastic processes. This study evaluated a series of gnathic fibrohistiocytic lesions to identify and categorize their clinical, radiographic and morphologic spectrum. A retrospective case search over 48 years was conducted for maxillary and mandibular intra-bony fibrohistiocytic lesions. Diagnoses were confirmed and demographic, radiographic, clinical and follow-up data was analyzed. Fifty cases met the inclusion criteria. Most cases (80%) were found in the second through fourth decades (mean, 29 years). The most common location (86%) was the posterior mandible. Radiographic presentations varied, but a few patterns emerged, including a distinctive mottled, honeycomb type with punctate lucencies. All cases demonstrated fibrous components admixed with variable histiocytes. Eight cases (16%) were histiocyte-rich with dominant sheets of xanthoma cells. Immunohistochemical staining revealed strong CD68 and CD163 expression, along with variable smooth muscle actin staining. The vast majority (92%) of cases were treated conservatively. Available follow-up showed lesional stability in 17 cases (average, 85 months) with 2 recurrences (24 months each) and no evidence of malignant transformation. This study is the largest to date of fibrohistiocytic gnathic lesions, revealing distinctive radiographic and histologic findings and characteristic clinical and immunophenotypic features. Available evidence suggests that most of these are indolent, slow-growing lesions amenable to conservative therapy.

A case of diffusely infiltrating colorectal cancer with distinctive endoscopic and histologic findings

A man in his 50s visited our hospital for positive fecal immunochemical tests and transient abdominal pain. Colonoscopy revealed multiple diverticula and localized reddish, granular mucosa with mildly converging folds at the ascending colon (Fig. 1). Narrow-band imaging magnifying endoscopy visualized normal pits (Kudo’s type I pit pattern) on the reddish mucosa (Fig. 2). Endoscopically, the findings were not suggestive of neoplastic changes. Malignancy was not proven by biopsy samples.Figure 2NBI magnifying endoscopy visualized normal pits on the reddish mucosa.View Large Image Figure ViewerDownload Hi-res image Download (PPT) One year later, he underwent colonoscopy again after another positive fecal immunochemical test. The ascending colon became severely strictured because of worsening converging folds. An enlargement was seen in the reddish mucosa, but ulcerations were absent (Fig. 3). Adenocarcinoma cells were detected in the biopsy specimens. Other malignant neoplasms were not revealed in the chest and abdomen by EGD and contrast-enhanced CT; thus, the lesion was considered to be primary type 4 (the Paris endoscopic classification) ascending colon cancer. The patient was transferred to a tertiary referral institution. Although the preoperative TNM stage was cT3N0M1c cStage IVc, intraoperative peritoneal washing cytology was negative. Therefore, a right hemicolectomy was performed. The resected tumor was 31 × 20 mm in size. Histologically, the diffuse spread of well to moderately differentiated adenocarcinoma cells were observed, accompanied by significant desmoplastic reactions (Figs. 4 and 5). Although the tumor partially infiltrated into the subserosal layer, most of the mucosal surface was covered with normal glands, having only focal cancer exposure (Fig. 6). The patient was finally diagnosed with diffusely infiltrating ascending colon cancer with predominantly differentiated histology.Figure 5The higher-power field image of arrow on Figure 4 (H&E, orig. mag. ×30).View Large Image Figure ViewerDownload Hi-res image Download (PPT)Figure 6Most of the mucosal surface was covered with normal glands. Carcinoma cells were only focally exposed (arrowhead on Figure 4; H&E, orig. mag. ×50).View Large Image Figure ViewerDownload Hi-res image Download (PPT) The initial endoscopic findings seemed to reflect those of diffusely infiltrating colorectal cancer at a relatively early stage and should be noted. The chronological changes mentioned above also shed some light on the growth pattern of this particular disease. This case was considered to be distinctive from the perspective of endoscopic and histologic features. All authors disclosed no financial relationships.

TFE3 Rearrangement and Expression in Renal Cell Carcinoma.

TFE3 rearranged Renal cell carcinoma (RCC) is not very common, and demonstrates unique heterogenous morphological features overlapping other recognized entities and distinct immunoprofile. It can be seen in any age group, therefore practicing pathologists should be aware of the distinctive clinical settings and histologic findings associated with these tumors and subsequently employ an adequate panel of ancillary studies in order to confirm the diagnosis. Recognizing these entities remains crucial for future clinical trials and development of novel therapies.

Preterm Infant of Diabetic Mother with a Retrorectal Mass: A Troubling Tail Tale.

Preterm Infant of Diabetic Mother with a Retrorectal Mass: A Troubling Tail Tale.

Idiopathic granulomatous mastitis

: Idiopathic granulomatous mastitis (IGM) is a rare, benign breast condition characterized by multiple draining sterile breast abscesses. This condition of unknown etiology commonly presents in young, parous women with a recent history of lactation and of Mediterranean or Hispanic descent. IGM commonly presents unilaterally with localization in the upper outer quadrant but can present in any quadrant or both breasts concurrently. This disease can mimic breast cancer on various imaging modalities causing concern as well as presenting with erythema, breast edema, breast pain, and sinus tract formation. IGM is diagnosed through the exclusion of all other common pathogens and diseases as well as distinct histological findings of non-caseating granulomas and multinucleated giant cells upon core needle biopsy. IGM is a self-limiting disease and can self-resolve on an average of 5 months, but treatment modalities are recommended to help manage the symptoms. Treatment methods range from observation, steroids, methotrexate and surgical excision with relapse commonly occurring. Currently, no consensus within the literature exists on the best treatment strategy. Each treatment method has various advantages and disadvantages, therefore this review aims to provide focused, up-to-date guidance on of IGM. This review specifically highlights each treatment method, showcases studies on different treatment modalities in a comprehensive table, and provides a precise algorithm for clinicians on the workup and treatment of IGM.

Calcifying Fibrous Tumor of the Neck

A 19year old otherwise healthy male presented with a history of acute onset left neck pain with subsequent swelling and development of a left neck mass that progressively enlarged over a two month period. Imaging studies revealed a solid heterogeneous mass with prominent calcifications displacing normal structures. The lesion was resected via transcervical approach and a diagnosis of calcifying fibrous tumor (CFT) was rendered. The clinical, radiographic, histologic and immunophenotypic features of CFT are discussed. CFT is a rare benign soft tissue tumor with distinctive histologic findings. They present as well-circumscribed but unencapsulated, paucicellular lesions consisting of hyalinized fibrous tissue with chronic lymphoplasmacytic inflammation and variable amounts of both psammomatous and dystrophic calcifications distributed throughout. They are found in numerous locations throughout the body, most often in the gastrointestinal tract or subcutaneous soft tissue, but are relatively uncommon in the neck. This article describes a case of CFT which presented as an enlarging neck mass in a young male.

Tubulointerstitial nephritis as adverse effect of programmed cell death 1 inhibitor, nivolumab, showed distinct histological findings.

Immune-checkpoint inhibitor nivolumab (anti-PD-1 antibody) blocks T cell inhibition and stimulate immunologic response toward cancer cells. It was also revealed that PD-1/PD-L1 interaction crucially controls the effector differentiation of auto-reactive T cells to maintain self-tolerance. Therefore, potential autoimmunological side-effect can occur in any organ. Here, we report a case of 67-year-old Japanese male with lung adenocarcinoma treated with nivolumab who developed acute tubulointerstitial nephritis after the third infusion of nivolumab. Kidney biopsy showed distinct histological findings: Proliferation of CD38 positive and IgG positive plasma cells, and affluent infiltration of FoxP3+ regulatory T cells. Herein, we do pathological discussion concerning acute tubulointerstitial nephritis occurred in this case based on these histological findings.

The Spectrum of Histologic Findings in Hepatic Outflow Obstruction.

-Cardiac hepatopathy and Budd-Chiari syndrome are 2 forms of hepatic venous outflow obstruction with different pathophysiology but overlapping histologic findings, including sinusoidal dilation and centrilobular necrosis. -To determine whether a constellation of morphologic findings could help distinguish between the 2 and could suggest the diagnoses in previously undiagnosed patients. -We identified 26 specimens with a diagnosis of cardiac hepatopathy and 23 with a diagnosis of Budd-Chiari syndrome. Slides stained with hematoxylin and eosin and with trichrome were evaluated for several distinctive histologic findings. -Features common to both forms of hepatic outflow obstruction included sinusoidal dilation and portal tract changes of fibrosis, chronic inflammation, and bile ductular reaction. Histologic findings significantly more common in cardiac hepatopathy included pericellular/sinusoidal fibrosis and fibrosis around the central vein. Only centrilobular hepatocyte dropout/necrosis was significantly more common in Budd-Chiari, regardless of duration. -The finding of pericellular/sinusoidal fibrosis in cardiac hepatopathy compared with Budd-Chiari is not unexpected, given the chronic nature of most cardiac hepatopathy. Portal tract changes are common in both forms of hepatic outflow obstruction and should not deter one from making the diagnosis of hepatic outflow obstruction. Fibrosis along sinusoids and around the central vein may be suggestive of cardiac hepatopathy in biopsies from patients without a prior diagnosis.

Concomitant pemphigus vulgaris and pemphigoid gestationis: a case report and review of the literature

Pemphigus and pemphigoid are two unique acquired immunobullous diseases with distinct clinical presentations, histological findings, and characteristic serology; they are rarely reported to coexist in the same patient. Herein we present a 29-year-old woman with a history of pemphigus vulgaris, diagnosed by histology and positive desmoglein-3 antibodies on ELISA. She presented to our clinic shortly after the delivery of her first child with tense vesicles and bullae on an erythematous base on her abdomen. Biopsy was consistent with pemphigoid gestationis and direct immunofluorescence confirmed the diagnosis. To our knowledge, there are no other reported cases of pemphigoid gestationis occurring in a patient with pemphigus vulgaris.

Rationale and design of GISSI OUTLIERS VAR Study in bicuspid aortic valve patients: Prospective longitudinal, multicenter study to investigate correlation between surgical, echo distinctive features, histologic and genetic findings in phenotypically homogeneous outlier cases

Background/objectivesBicuspid aortic valve (BAV) is the most common congenital heart disorder, affecting up to 2% of the population. Involvement of aortic root and ascending aorta (aneurysm or, eventually, dissection) is frequent in patients with pathologic or normal functioning BAV. Unfortunately, there are no well-known correlations between valvular and vascular diseases. In VAR protocol, with a new strategy of research, we analysemultiple aspects of BAV disease through correlation between surgical, echo, histologic and genetic findings in phenotypically homogeneous outlier cases. MethodsVAR protocol is a prospective, longitudinal, multicenter study. It observes 4 homogeneous small groups of BAV surgical patients (15 patients each): isolated aortic regurgitation, isolated ascending aortic aneurysm, aortic regurgitation associated with aortic aneurysm, isolated aortic stenosis in older patients (>60years). Echo analysis is extended to first-degree relatives and, in case of BAV, genetic test is performed. Patients and relatives are enrolled in 10 cardiac surgery/cardiologic centers throughout Italy. ConclusionsThe aim of the study is to identify predictors of favorable or unfavorable evolution of BAV in terms of valvular dysfunction and/or aortic aneurysm. Correlations between different features could help in identification of various BAV risk groups, rationalizing follow-up and treatment.

Pathophysiology and Diseases of the Proximal Pathways of the Biliary System.

Diseases of the proximal pathways of the biliary system can be divided into those that affect the interlobular bile ducts and those that affect the bile canaliculi. The former include primary biliary cirrhosis, small-duct variant of primary sclerosing cholangitis, graft-versus-host disease, and drug-induced liver injury, whereas the latter include progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, intrahepatic cholestasis of pregnancy, and drug-induced liver injury. To summarize the current state of knowledge of diseases of the proximal pathways of the biliary system, with special emphasis on clinical presentation, pathological features, and differential diagnosis. Clinicopathological information was extracted from pertinent published literature. Care of the patient with cholestasis hinges on identifying the etiology. Diagnostic steps in cholestatic conditions comprise a thorough patient history, abdominal imaging, distinct serological studies, and liver biopsy. Primary biliary cirrhosis is characterized by distinctive serological and histological findings. The small-duct variant of primary sclerosing cholangitis is very rare and difficult to diagnose; imaging of the bile ducts is not helpful. Graft-versus-host disease is characterized by damage and loss of intrahepatic bile ducts. Drugs can cause injury variably at the level of bile canaliculus or the interlobular bile duct. Loss of bile ducts may be seen with primary biliary cirrhosis, primary sclerosing cholangitis, graft-versus-host disease, and drug-induced liver injury. Progressive familial intrahepatic cholestasis and progressive familial intrahepatic cholestasis represent 2 extreme ends of the spectrum of abnormalities in transporters responsible for bile formation. Intrahepatic cholestasis of pregnancy has a variable incidence in different parts of the world and may be due to abnormalities in transporter molecules.

Regional odontodysplasia crossing the midline: A unique case associated with bilateral impacted supernumerary teeth

Regional odontodysplasia (RO) is an uncommon developmental anomaly affecting a localized area of dentition, with distinctive clinical, radiographic, and histological findings. It is presumed to be the result of a developmental disturbance that locally affects the odontogenic ectodermal and mesodermal tissues. In general, it is limited to only one arch and sometimes it can occasionally cross the midline. Supernumerary teeth (ST) are mammalian developmental abnormalities characterized by the presence of extra teeth in addition to the normal eruption series. Here, we report a case of RO that affected right maxillary teeth crossing the midline and showed two maxillary bilateral impacted ST.

Masticatory muscle tendon‐aponeurosis hyperplasia exhibits heterotopic calcification in tendons

Masticatory muscle tendon-aponeurosis hyperplasia is a new disease entity associated with limited mouth opening. In this study, we analyzed the microstructural characteristics of muscles and tendons in masticatory muscle tendon-aponeurosis hyperplasia by electron microscopy and energy-dispersive X-ray analysis to determine the elemental composition. Histological analysis was performed to detect the calcification. Transmission electron microscopy and scanning electron microscopy were conducted to clarify the microstructural characteristics of muscles and tendons. Energy-dispersive X-ray microanalysis was performed to identify the distribution of elements. Mineralized nodules were observed in tendon tissues of masticatory muscle tendon-aponeurosis hyperplasia as compared with facial deformity. Electron microscopy revealed that the muscle and tendon tissues in masticatory muscle tendon-aponeurosis hyperplasia showed degenerative changes and distinctive histological findings as compared with tissues in facial deformity. We found that Ca, P, and Si were detected only in masticatory muscle tendon-aponeurosis hyperplasia. We demonstrated that masticatory muscle tendon-aponeurosis hyperplasia exhibits heterotopic calcification in tendon tissues.

Splanchnic vascular involvement and autoimmune pancreatitis

Splanchnic vascular involvement and autoimmune pancreatitis

Diagnostic and clinical implications of pituicytoma

Pituicytoma is a rare, indolent, benign tumor of the sellar and suprasellar region arising from pituicytes of the neurohypophysis. It is most often diagnosed pre-operatively as a pituitary adenoma. We report two patients with pituicytoma operated on at our Institute over 8 years. Imaging of one patient showed a parasellar and medial temporal extension, which has not been reported to our knowledge. The radiological features that help distinguish this low-grade tumor from other sellar and parasellar tumors are discussed along with its distinct histological findings. The authors also review the literature on its clinical presentation, diagnosis, surgical management and outcome.

Porokeratotic Eccrine Ostial and Dermal Duct Nevus: A Report of 2 Cases and Review of the Literature

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare disorder of keratinization involving the intraepidermal eccrine duct (acrosyringium). We detail two examples of this unique clinicopathological entity--one with a more typical clinical presentation and one with a solitary lesion and late adult onset. In addition, we discuss the distinctive histologic and immunohistochemical findings and review the literature.

Regional odontodysplasia: An unusual case report

Regional odontodysplasia is an uncommon developmental anomaly affecting a localized area of dentition, with distinctive clinical, radiographic, and histological findings. This article reviews a case of a 14-year-old female who reported with unerupted maxillary anterior teeth. This case was rare in that it involved maxillary dentition with unerupted maxillary anterior teeth on the right side, but the left central incisor was missing. The molars on the right side were showing some amount of abnormality. Radiographically, the affected teeth had a ‘ghostly’ appearance, showing a marked reduction in radiodensity. Both enamel and dentin appeared to be very thin, the pulp chamber was exceedingly large, and the roots were short with wide open apices. All the characteristics were consistent with the diagnosis of regional odontodysplasia. The care and treatment of this patient required a multidisciplinary approach. The unerupted maxillary anterior teeth were surgically removed, following which temporary prosthetic restoration was provided to improve esthetics and to restore the function.