Gaucher Disease: A First Reported Adult Case in Indonesia.

A 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed pancytopenia and decreased albumin-globulin ratio. The abdominal ultrasonography revealed splenomegaly, cholelithiasis, and cystitis, and the bone survey showed osteopenia. Differential diagnoses included leukemia, multiple myeloma, and myelofibrosis therefore bone marrow puncture was performed. However, histopathologic examination found Gaucher-like cells in the bone marrow aspiration. The finding of CD68 positivity in Gaucher-like cells by using the immunohistochemistry staining supporting Gaucher disease. To confirm the diagnosis, an examination of glucocerebroside substrate from the patient's blood plasma was performed. Glucosylsphingosine, a deacylated form of glucosylceramide, was markedly elevated. Therefore, the diagnosis of Gaucher disease was confirmed. This is the first reported adult Gaucher case diagnosed in Indonesia.

Bilateral hibernomas in the femoral regions of a dog.

A 14-year-old intact male Chihuahua dog was presented with masses located between the biceps femoris and adductor muscles in both hind limbs. Based on histopathological, immunohistochemical, and ultrastructural findings, we diagnosed these masses as bilateral hibernomas in the femoral regions. The dog had no evidence of recurrence or metastasis of the hibernomas through a 4-month postoperative follow-up. This is apparently the first report of bilateral hibernomas in the femoral regions of a dog. Key clinical message: Bilateral hibernomas should be considered as a differential diagnosis for masses occurring in the femoral regions of dogs.

Hibernomes bilatéraux dans les régions fémorales d'un chien. Un chien Chihuahua mâle intact de 14 ans a été présenté avec des masses situées entre le biceps fémoral et les muscles adducteurs des deux membres postérieurs. Sur la base des résultats histopathologiques, immunohistochimiques et ultrastructuraux, nous avons diagnostiqué ces masses comme des hibernomes bilatéraux dans les régions fémorales. Le chien n'avait aucun signe de récidive ou de métastases des hibernomes au cours d'un suivi postopératoire de 4 mois. Il s'agit apparemment du premier rapport d'hibernome bilatéral dans les régions fémorales d'un chien.Message clinique clé:Les hibernomes bilatéraux doivent être considérés comme un diagnostic différentiel pour les masses survenant dans les régions fémorales des chiens.(Traduit par Dr Serge Messier).

[Non-primary solid malignancies of breast in needle core biopsy: a clinicopathological analysis of 23 cases].

Objective: To investigate the accurate diagnosis and differential diagnosis of non-primary solid malignant tumors in breast needle core biopsy. Methods: Twenty-three cases of breast, axilla or neck lymph nodes pathologically diagnosed as non-primary solid malignant tumors were collected at the First Affiliated Hospital of Nanjing Medical University, Nanjing, China from January 2013 to March 2023. The differential diagnoses and diagnostic features were analyzed, based on combining clinical data, histology, and expression characteristics of biomarkers. Results: All patients were female, with age ranging from 29 to 75 years (average 56 years). The average time from the diagnosis of primary tumor to the current diagnosis was 21 months (0 to 204 months).The primary sites included the ovary (9 cases), the lung (5 cases), the gastrointestinal tract (4 cases), the pancreas, intrahepatic bile duct, thyroid gland, nasal cavity and forearm skin (1 case each). No carcinoma in situ was found in any of the cases. The morphological differences were significant among the tumors, but similar to the primary tumors. The tumors of neuroendocrine and female reproductive tract had great morphological and immunophenotypic overlaps with breast cancer. Metastatic lung cancer cells showed obvious atypia and tumor giant cells. The morphology and immunophenotype of metastatic serous carcinoma of female reproductive system might resemble invasive micropapillary carcinoma of the breast. Metastatic adenocarcinoma of the gastrointestinal tract often had features of mucous secretion. Metastatic neuroendocrine tumors were bland in appearance and morphologically similar to solid papillary carcinoma of breast, but negative for ER. TRPS1 was mostly negative (18/23) and variably positive in ovarian (4/9) and intrahepatic bile duct (1/1) tumors. Conclusions: The diagnosis of breast needle core biopsy specimen should be combined with clinical history, imaging study, and careful examination of histological features, such as presence of in situ component, morphological similarity between the primary and metastatic tumors, and using appropriate markers to differentiate the primary from metastatic tumors.

Differential diagnosis of Crohn's disease and intestinal tuberculosis based on ATR-FTIR spectroscopy combined with machine learning.

BACKGROUND: Crohn's disease (CD) is often misdiagnosed as intestinal tuberculosis (ITB). However, the treatment and prognosis of these two diseases are dramatically different. Therefore, it is important to develop a method to identify CD and ITB with high accuracy, specificity, and speed. AIM: To develop a method to identify CD and ITB with high accuracy, specificity, and speed. METHODS: A total of 72 paraffin wax-embedded tissue sections were pathologically and clinically diagnosed as CD or ITB. Paraffin wax-embedded tissue sections were attached to a metal coating and measured using attenuated total reflectance fourier transform infrared spectroscopy at mid-infrared wavelengths combined with XGBoost for differential diagnosis. RESULTS: The results showed that the paraffin wax-embedded specimens of CD and ITB were significantly different in their spectral signals at 1074 cm-1 and 1234 cm-1 bands, and the differential diagnosis model based on spectral characteristics combined with machine learning showed accuracy, specificity, and sensitivity of 91.84%, 92.59%, and 90.90%, respectively, for the differential diagnosis of CD and ITB. CONCLUSION: Information on the mid-infrared region can reveal the different histological components of CD and ITB at the molecular level, and spectral analysis combined with machine learning to establish a diagnostic model is expected to become a new method for the differential diagnosis of CD and ITB.

[A case of intestinal myiasis in a bedridden elderly patient].

A 75-year-old man with type 2 diabetes and a history of previous empyema surgery was admitted to our hospital due to difficulty moving caused by chronic obstructive pulmonary disease and dehydration. During the first two days of hospitalization, intestinal myiasis was diagnosed after maggots were found in his diapers. After the maggots disappeared, he developed a fever, prompting antibiotic therapy for a suspected secondary infection, resulting in clinical improvement. Despite thorough home cleaning, no flies or maggots were found, and the source of infection and the fly species remained unknown. Recent reports suggest a higher prevalence of myiasis among the elderly, even with overall improvement in hygiene. While myiasis is typically mild, it is a condition that requires consideration in an aging society. Myiasis is a disease that should be considered in the differential diagnosis of the elderly, especially in people who are bedridden or frail.

Red in the face: Approach to diagnosis of red rashes on the face.

BACKGROUND: A red rash on the face in an adult patient is a common presentation to general practice in Australia. Rashes on the face significantly affect quality of life because this is a cosmetically sensitive site. Ascertaining the correct diagnosis is therefore of utmost importance so that appropriate treatment can be initiated. OBJECTIVE: This article discusses the assessment of red rashes on the face in an adult patient. DISCUSSION: Diagnosing a red rash on the face requires assessment of symptomology, age of onset, rash morphology and 'clinical clues' that help delineate between differentials. Although the list of differential diagnoses is wide, many of the common diagnoses can be made clinically without the need for investigations. Investigations such as skin biopsy are useful if the diagnosis is unclear, if the rash is not responding to initial treatment and/or a referral to a dermatologist is being considered.

Multiple Ring-Enhancing Brain Lesions: Fulminant Diffuse Cerebral Toxoplasmosis or Cerebral Metastases?

ABSTRACT: In this case report, we describe a 76-year-old woman, presenting with dizziness for the past 2 months, without other focal neurological signs. A magnetic resonance imaging of the brain was ordered by her GP. The MRI demonstrated multiple ring-enhancing lesions, both supratentorial and infratentorial. Lumbar puncture showed normal findings, in particular a normal cell count and culture. Because of the radiologic appearance, initially thought to be suggestive of cerebral abscesses, antibiotics were started. However, further workup revealed a new diagnosis of a stage IV (metastatic) small cell lung carcinoma, making diffuse brain metastases more likely. The patient was transferred to oncology/pneumology, where she was started on whole-brain radiotherapy, after which systemic therapy would start. However, because of further clinical deterioration, she was admitted at the palliative ward, where she died only 3 months after the initial presentation. In this case report, we emphasize the importance of keeping a broad differential diagnosis and briefly review the various possible pathologies causing ring-enhancing lesions.

[Intestinal calcifying fibrous tumor: case report]. / Tumor fibroso calcificante intestinal: reporte de caso.

Calcifying fibrous tumor (CFT) is a rare benign lesion of mesenchymal origin that may present similar characteristics to other more common tumors. We present the case of a 36-year-old woman with a tumor in the proximal jejunum, initially suspected to be a gastrointestinal stromal tumor (GIST). Surgical resection was performed, revealing a well-demarcated nodule at the anti-mesenteric border with microscopic features typical of a calcifying fibrous tumor. The tumor cells were positive for CD34 and negative for other markers, differentiating it from other neoplasms. Calcifying fibrous tumors can be confused with more common tumors because of its appearance, but an accurate diagnosis supported by immunohistochemistry is essential. Complete surgical excision is usually curative.

[Main Types of Cysts in Dermatopathology: Part 2]. / Principales tipos de quistes en dermatopatología: Parte 2.

This is the second article in a two-part series published in this journal, in which we examine the histopathological characteristics, as well as the differential diagnosis, of the main entities that present as cystic and pseudocystic structures in cutaneous biopsy. In this second article, we address ciliated cutaneous cysts, branchial cysts, Bartholin's cysts, omphalomesenteric cysts, thymic cysts, thyroglossal duct cysts, synovial cysts, and median raphe cysts, as well as mucocele, ganglion, and auricular and digital myxoid pseudocysts.

Solitary fibrous tumor of the pleura with air cystic component.

We present an uncommon case of a solitary fibrous tumor of the pleura with the appearance of an air-containing cystic mass. We discuss the differential diagnosis through the imaging findings, the hypothetical origins of the air component, and the possible relationship between the air component and the aggressivity of the tumor.

Differential diagnosis of cemento-osseous dysplasia and periapical cyst using texture analysis of CBCT.

BACKGROUND: Radiolucencies found at the root apex in patients with cemento-osseous dysplasia (COD) may be mistaken for periapical cysts (PC) of endodontic origin. The purpose of this study was to examine the utility of quantitative texture analysis using cone-beam computed tomography (CBCT) to differentiate between COD and PC. METHODS: Patients who underwent CBCT at Wonkwang University Daejeon Dental Hospital between January 2019 and December 2022 and were diagnosed with COD and PC by clinical, radiologic, and, if necessary, histopathologic examination were included. Twenty-five patients each were retrospectively enrolled in the COD and PC group. All lesions observed on axial CBCT images were manually segmented using the open-access software MaZda version 4.6 to establish the regions of interest, which were then subjected to texture analysis. Among the 279 texture features obtained, 10 texture features with the highest Fisher coefficients were selected. Statistical analysis was performed using the Mann-Whitney U-test, Welch's t-test, or Student's t-test. Texture features that showed significant differences were subjected to receiver operating characteristics (ROC) curve analysis to evaluate the differential diagnostic ability of COD and PC. RESULTS: The COD group consisted of 22 men and 3 women, while the PC group consisted of 14 men and 11 women, showing a significant difference between the two groups in terms of sex (p=0.003). The 10 selected texture features belonged to the gray level co-occurrence matrix and included the sum of average, sum of entropy, entropy, and difference of entropy. All 10 selected texture features showed statistically significant differences (p<0.05) when comparing patients with COD (n=25) versus those with PC (n=25), osteolytic-stage COD (n=11) versus PC (n=25), and osteolytic-stage COD (n=11) versus cementoblastic-stage COD (n=14). ROC curve analysis to determine the ability to differentiate between COD and PC showed a high area under the curve ranging from 0.96 to 0.98. CONCLUSION: Texture analysis of CBCT images has shown good diagnostic value in the differential diagnosis of COD and PC, which can help prevent unnecessary endodontic treatment, invasive biopsy, or surgical intervention associated with increased risk of infection.

Cementoblastoma Mimicking Pathology of Endodontic Origin: A Case Report.

Interdisciplinary care in the management of complex pathology is critical to ensure patients receive predictable, evidence-based treatment. The authors report the unique case of a healthy 38-year-old female patient who presented to a private endodontics practice with a radiopaque lesion associated with the root of tooth No. 20. The patient experienced mild and occasional palpation tenderness associated with the tooth. Extraoral examination and intraoral soft tissues presented without any abnormalities. Intraoral radiographs revealed a radiopacity overlying the apex of tooth No. 20. A cone-beam computed tomography scan of the region revealed a well-delineated bulbous radiopaque lesion attached to the lingual aspect of the apical third of the root of tooth No. 20. The lesion could not be distinguished from the root outline and presented with a radiolucent halo along its periphery. The differential diagnosis at the time consisted of cementoblastoma, condensing osteitis, hypercementosis, and periapical cemento-osseous dysplasia. The patient was referred to an oral and maxillofacial surgeon for evaluation and treatment. Tooth No. 20 was subsequently treated with an excisional biopsy and concurrent extraction of the tooth. Histologic examination of the lesion supported the diagnosis of cementoblastoma.

A Tale of Two Tumors: A Collision Tumor of Atypical Fibroxanthoma and Basal Cell Carcinoma.

ABSTRACT: A collision tumor is an infrequent phenomenon characterized by the presence of 2 histologically distinct tumor types (either benign or malignant) occurring within the same specific anatomical site. We describe a rare case of co-occurrence of basal cell carcinoma and atypical fibroxanthoma presenting as a single lesion on the scalp in a 76-year-old man. The lesion was clinically suspicious for basal cell carcinoma and biopsied. Histologic examination showed 2 distinct tumors, one with basaloid cells and the other one with pleomorphic spindle cells colliding and growing together. Immunohistochemical stains were crucial in establishing the diagnosis. This presentation is exceedingly rare and requires additional evaluation for diagnosis.

Bubble-like lucency in pulmonary ground glass nodules on computed tomography: a specific pattern of air-containing space for diagnosing neoplastic lesions.

PURPOSE: To investigate the computed tomography (CT) characteristics of air-containing space and its specific patterns in neoplastic and non-neoplastic ground glass nodules (GGNs) for clarifying their significance in differential diagnosis. MATERIALS AND METHODS: From January 2015 to October 2022, 1328 patients with 1,350 neoplastic GGNs and 462 patients with 465 non-neoplastic GGNs were retrospectively enrolled. Their clinical and CT data were analyzed and compared with emphasis on revealing the differences of air-containing space and its specific patterns (air bronchogram and bubble-like lucency [BLL]) between neoplastic and non-neoplastic GGNs and their significance in differentiating them. RESULTS: Compared with patients with non-neoplastic GGNs, female was more common (P < 0.001) and lesions were larger (P < 0.001) in those with neoplastic ones. Air bronchogram (30.1% vs. 17.2%), and BLL (13.0% vs. 2.6%) were all more frequent in neoplastic GGNs than in non-neoplastic ones (each P < 0.001), and the BLL had the highest specificity (93.6%) in differentiation. Among neoplastic GGNs, the BLL was more frequently detected in the larger (14.9 ± 6.0 mm vs. 11.4 ± 4.9 mm, P < 0.001) and part-solid (15.3% vs. 10.7%, P = 0.011) ones, and its incidence significantly increased along with the invasiveness (9.5-18.0%, P = 0.001), whereas no significant correlation was observed between the occurrence of BLL and lesion size, attenuation, or invasiveness. CONCLUSION: The air containing space and its specific patterns are of great value in differentiating GGNs, while BLL is a more specific and independent sign of neoplasms.

Rosai-Dorfman disease manifesting as a solitary mass with fat in the thymus a case report.

BACKGROUND: Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease, is a rare, self-limiting disease that predominantly affects children and young adults. Moreover, the disease is characterized by painless bilateral cervical lymphadenopathy in 95% of the patients. However, few reports are available on the Rosai-Dorfman disease of the thymus. CASE PRESENTATION: We report a rare case of thymic Rosai-Dorfman disease detected using computed tomography. During a medical examination, a 50-year-old man underwent a chest computed tomography scan, which revealed an anterior mediastinal single mass with fat in the thymus. A thymectomy was performed to completely remove the tumor using a thoracoscopic technique due to a clinical suspicion of thymoma. Furthermore, Rosai-Dorfman disease was confirmed using histological and immunohistochemical analyses. CONCLUSIONS: To the best of our knowledge, this is the sixth case of thymus-affecting solitary Rosai-Dorfman disease with histological and immunohistochemical evidence. Fat in the thymus, as was present in this case, has never been described in Rosai-Dorfman disease previously. Our results highlight the challenge of diagnosing this uncommon tumor before surgery, and more cases need to be reported to help with the preoperative diagnosis of such a rare tumor.

Management regulations for odontogenic keratocyst: a case report and review of the literature.

BACKGROUND: Reconstruction of the entire dentition with odontogenic keratocyst is a very challenging quandary. Most cases of odontogenic keratocyst are often reported to be benign, resulting in severe occlusal discrepancies with the maxillary and mandibular dentition. Dental radiographs occasionally reveal an uncommon, locally aggressive developing cyst termed as odontogenic keratocyst, which is typically located in the posterior jaw. When this cyst occurs in the anterior region, it is often misdiagnosed with other periapical lesions due to its lack of response to pulp vitality tests. CASE PRESENTATION: This clinical case scenario demarcates the endodontic management of a patient diagnosed with odontogenic keratocyst. A 37-year-old Indian male patient reported to the department with throbbing pain in the lower left posterior tooth requiring endodontic therapy. This patient also presented with odontogenic keratocyst in the anterior region of the jaw, for which he had undergone surgical rehabilitation. This case report highlights the clinical protocol for the endodontic therapy in patient diagnosed with ododntogenic keratocyst. Masticatory impairment was not visible after the follow-up period and the treatment outcome was successful. CONCLUSION: This case report details the presentation, characteristic radiographic findings, and endodontic management of a patient with an extremely rare condition of odontogenic keratocyst. The management involves multidisciplinary approach for the rehabilitation.

Characterization of sacral chordoma and differential diagnosis from other sacral malignancy using [18F]FDG PET/CT.

2-Deoxy-2-[18F]fluoro-D-glucose ([18F]FDG) positron emission tomography (PET)/computed tomography (CT) is known to be a helpful imaging modality for sacral chordoma, but its detailed characteristics have not been fully described. The purpose of our study was to identify the [18F]FDG PET/CT imaging characteristics of sacral chordoma and compare them with other sacral malignancy. This retrospective study included patients who underwent [18F]FDG PET/CT because of a mass involving the sacrum. Investigated visual findings included visual score and distribution, and semiquantitative parameters measured included standardized uptake values (SUVmax, SUVpeak, SUVmean), tumor-to-liver ratio (TLR), metabolic tumor volume (MTV), total lesion glycolysis (TLG), and tumor size. Comparison studies and receiver operating characteristics (ROC) curve analysis were performed to differentiate between sacral chordoma and other sacral malignancy. Ten patients with sacral chordoma were finally included (M:F = 6:4, median age = 67 yr). On [18F]FDG PET/CT, sacral chordomas presented as a mass with minimal-moderate uptake with a usually heterogenous distribution. Compared with 12 patients with other sacral malignancies (M:F = 4:8, median age 42 yr), sacral chordoma showed a significantly lower TLR (median value 2.1 vs 6.3, P = .021). In ROC curve analysis, TLR showed the largest area under the curve (AUC) of 0.79 (cutoff ≤ 4.0; sensitivity 100.0%, specificity 58.3%; P = .004), and SUVmax showed the second largest AUC of 0.73 (cutoff ≤ 6.9; sensitivity 80.0%, specificity 66.7%; P = .034). [18F]FDG PET/CT of sacral chordoma showed minimal-moderate uptake. The TLR of [18F]FDG PET/CT was significantly lower than that of other sacral malignancy and was the most useful parameter for differentiating sacral chordoma, with the largest AUC. SUVmax could be another helpful semiquantitative parameter.

Six-Gene Signature for Differential Diagnosis and Therapeutic Decisions in Non-Small-Cell Lung Cancer-A Validation Study.

Non-small-cell lung cancer (NSCLC) poses a challenge due to its heterogeneity, necessitating precise histopathological subtyping and prognostication for optimal treatment decision-making. Molecular markers emerge as a potential solution, overcoming the limitations of conventional methods and supporting the diagnostic-therapeutic interventions. In this study, we validated the expression of six genes (MIR205HG, KRT5, KRT6A, KRT6C, SERPINB5, and DSG3), previously identified within a 53-gene signature developed by our team, utilizing gene expression microarray technology. Real-time PCR on 140 thoroughly characterized early-stage NSCLC samples revealed substantial upregulation of all six genes in squamous cell carcinoma (SCC) compared to adenocarcinoma (ADC), regardless of clinical factors. The decision boundaries of the logistic regression model demonstrated effective separation of the relative expression levels between SCC and ADC for most genes, excluding KRT6C. Logistic regression and gradient boosting decision tree classifiers, incorporating all six validated genes, exhibited notable performance (AUC: 0.8930 and 0.8909, respectively) in distinguishing NSCLC subtypes. Nevertheless, our investigation revealed that the gene expression profiles failed to yield predictive value regarding the progression of early-stage NSCLC. Our molecular diagnostic models manifest the potential for an exhaustive molecular characterization of NSCLC, subsequently informing personalized treatment decisions and elevating the standards of clinical management and prognosis for patients.

MNDA expression and its value in differential diagnosis of B-cell non-Hodgkin lymphomas: a comprehensive analysis of a large series of 1293 cases.

AIMS: MNDA (myeloid nuclear differentiation antigen) has been considered as a potential diagnostic marker for marginal zone lymphoma (MZL), but its utility in distinguishing MZL from other B-cell non-Hodgkin lymphomas (B-NHLs) and its clinicopathologic relevance in diffuse large B-cell lymphoma (DLBCL) are ambiguous. We comprehensively investigated MNDA expression in a large series of B-NHLs and evaluated its diagnostic value. METHODS: MNDA expression in a cohort of 1293 cases of B-NHLs and 338  cases of reactive lymphoid hyperplasia (RLH) was determined using immunohistochemistry and compared among different types of B-NHL. The clinicopathologic relevance of MNDA in DLBCL was investigated. RESULTS: MNDA was highly expressed in MZLs (437/663, 65.9%), compared with the confined staining in marginal zone B-cells in RLH; whereas neoplastic cells with plasmacytic differentiation lost MNDA expression. MNDA expression was significantly higher in mantle cell lymphoma (MCL, 79.6%, p = 0.006), whereas lower in chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL, 44.8%, p = 0.001) and lymphoplasmacytic lymphoma (LPL, 25%, p = 0.016), and dramatically lower in follicular lymphoma (FL, 5.2%, p < 0.001), compared with MZL. 29.6% (63/213) of DLBCLs were positive for MNDA. The cases in non-GCB group exhibited a higher rate of MNDA positivity (39.8%) compared to those in GCB group (16.3%) (p < 0.001), and MNDA staining was more frequently observed in DLBCLs with BCL2/MYC double-expression (50%) than those without BCL2/MYC double-expression (24.8%) (p = 0.001). Furthermore, there was a significant correlation between MNDA and CD5 expression in DLBCL (p = 0.036). CONCLUSIONS: MNDA was highly expressed in MZL with a potential utility in differential diagnosis between MZL and RLH as well as FL, whereas its value in distinguishing MZL from MCL, CLL/SLL is limited. In addition, MNDA expression in DLBCL was more frequently seen in the non-GCB group and the BCL2/MYC double-expression group, and demonstrated a correlation with CD5, which deserves further investigation. The clinical relevance of MNDA and its correlation with the prognosis of these lymphomas also warrant to be fully elucidated.