Granulomatous Lymphadenitis Research Articles

Isolated Perianal Langerhans Cell Histiocytosis in a Human Immunodeficiency Virus-Positive Adult: A Rare Incidental finding

Abstract Introduction/Objective Langerhans cell histiocytosis (LCH) is a rare disorder characterized by abnormal proliferation of antigen-presenting cells, primarily Langerhans cells. Although it commonly affects bones, skin, and lungs, involvement of the gastrointestinal tract is rare. Specifically, isolated perianal LCH is exceptionally uncommon, with only a few documented cases reported in the literature. Here, we report a case of incidental perianal LCH in an adult HIV patient, highlighting the exceptional rarity and clinical importance of this occurrence. Methods/Case Report A 56-year-old Caucasian male with HIV underwent surgical resection of a 0.5 x 0.4 x 0.3 cm verrucous lesion on the posterior anal margin. His past medical history included granulomatous lymphadenitis, penile warts, and anal dysplasia. Microscopic examination of the excised tissue revealed Langerhans cells with characteristic features, including abundant eosinophilic cytoplasm and irregular nuclear membranes (resembling “coffee-bean” or “folded paper” appearance). Immunohistochemical analysis confirmed the diagnosis by demonstrating positivity for CD1a, S100, and CD68. The BRAF mutation was evaluated on the same paraffin-embedded block, which revealed the lack of the mutant BRAF V600E. PET-CT imaging showed no evidence of metastatic disease, emphasizing the isolated nature of the perianal LCH in this patient. Results (if a Case Study enter NA) NA Conclusion This case highlights the significance of recognizing and thoroughly evaluating rare and incidental conditions such as LCH in HIV patients. Our findings emphasize the importance of maintaining a high index of suspicion for LCH among healthcare providers and ensuring proper follow-up to rule out systemic involvement. Furthermore, there is a need for future studies to investigate the correlation between LCH and HIV. Given its rarity and diverse clinical presentation in immunocompromised individuals, a multidisciplinary approach, tailored treatment plans, and long-term surveillance with imaging modalities like PET/CT are essential for effectively managing adult-onset isolated LCH.

Incidence of an Identifiable Organism in Children Who Underwent a Surgical Procedure for Granulomatous Cervical Lymphadenopathy.

Objectives: The incidence of cervical lymphadenopathy due to nontuberculous mycobacteria is rising in the pediatric population. Our goal with this study was to review the number of pediatric patients with granulomatous cervical adenitis and determine the incidence of identification of a specific organism as both healthcare providers and parents are interested in identifying the causative pathogen. Methods: A retrospective chart review was conducted of patients at a high-volume tertiary care children's hospital between 2017 and 2023. Children were included if they underwent a surgical procedure for lymphadenopathy. Pathology, microbiology, and other laboratory reports were reviewed to document the presence of granulomatous cervical adenitis and the incidence of identification of a specific organism. Additional data collected included patient demographics and type of procedure. Results: Of the 1538 charts reviewed, 163 patients underwent an inclusionary procedure. Mean patient age was 10.7 years (range 2.4 months-20 years), 70 (43%) were female, 25 (15%) had granulomatous cervical adenitis, and a specific organism was identified in 9 of these. Conclusion: Despite the availability of a number of ancillary tests, our data demonstrate that the identification of a specific pathogen in cases of granulomatous cervical lymphadenitis is rare. As a result, physicians should be prepared to rely primarily on the history and physical exam findings to determine a working diagnosis as well as a medical and/or surgical treatment plan.

The Importance of Diagnostic Mediastinoscopy in Patients with Mediastinal Lymphadenopathy

Objectives: Mediastinoscopy is a safe and invasive diagnostic method allowing to obtain sufficient tissue samples in the diagnosis of many malignant and benign intrathoracic diseases. In this study, it was aimed to determine the importance of mediastinoscopy in diagnosing mediastinal diseases and also provide patient data in the resolution of mediastinal diseases. Methods: Between January 2016 and December 2020, 76 cases of mediastinal lymphadenopathy that could not be diagnosed by other diagnostic methods were evaluated. Results: 64 (84,2%) of these 76 cases were diagnosed by mediastinoscopy. 12 cases (15.7%) were reported as reactive lymphoid hyperplasia. Since the definitive diagnosis of these cases could not be proven, they were considered as false-negative. Histopathological examination revealed chronic granulomatous lymphadenitis in 16 cases, non-necrotizing granulomatous lymphadenitis in 27 cases, metastasis of malignant disease in 18 cases, and lymphoma in 2 cases. In our study, the sensitivity of mediastinoscopy was determined as 84.2%. Neither mortality nor morbidity was detected in our cases. Conclusion: As a result, mediastinoscopy continues to maintain its traditional place for patients that cannot be diagnosed, because it is reliable and less invasive.

Incidência de linfadenite granulomatosa suína no ano de 2023 em frigorífico localizado no Triângulo Mineiro, Minas Gerais

Despite the increase in pig production in Brazil, challenges such as the spread of diseases in pig populations and public health concerns, such as the transmission of viruses and bacteria, require constant vigilance during the slaughter of these animals. In this context, granulomatous lymphadenitis (LG) in pigs is a subclinical disease caused mainly by non-tuberculous mycobacteria, with Mycobacterium avium hominissuis being the most prevalent in pigs and humans. The detection of infected animals occurs during slaughter, resulting in losses due to the disposal of viscera and carcasses. This study aimed to report the incidence of LG in a slaughterhouse located in the city of Uberlândia, Minas Gerais, during the year 2023. More than one million slaughtered animals were evaluated, of which more than 100 thousand showed some non-compliance, resulting in 596 cases of LG identified. The data suggest a low incidence of LG in the Triângulo Mineiro region, attributed to advances in disinfection practices and widespread knowledge about the disease. Furthermore, a seasonal pattern was observed in the occurrence of LG, with higher incidences in the coldest months of the year. Factors such as lack of hygiene in facilities, inadequate food supply and the presence of birds can contribute to the spread of the disease. It is concluded that despite the low occurrence in the studied region, LG continues to be a concern due to its economic impact and the need for constant surveillance and improvements in management and hygiene practices.

Role of Fluorescent Staining and Ziehl-Neelsen Techniques in The Detection of Mycobacterium Tubercle Bacilli in Lymph Node Aspirate

Background Tuberculosis is the important disease of infectious etiology especially in the developing nations. It is a major health issue in India. FNAC is an economic and rapid tool having high diagnostic accuracy for LN tuberculosis. Present study was conducted to describe the role of fluorescent staining and Ziehl- Neelsen techniques in detecting Mycobacterium tubercle bacilli on FNAC samples of tubercular lymphadenitis.MethodsThis prospective study was carried out at Department of Pathology, Muzaffarnagar Medical College, U.P. It included 100 patients having enlarged lymph nodes which were suspected of TB. After FNAC, cytological examination was done and smears prepared were stained with ZN stain and Auramine Rhodamine (AR) stain.ResultsTwenty eight (28.0%) cases were found in 21-30 years age group followed by 20 cases (20%) in 31- 40 year age group and 11-20 year age group. Most were females forming female to male ratio 1.7:1. Cytomorphologically, four patterns were observed– Necrotizing granulomatous lymphadenitis in 41% cases, Granulomatous lymphadenitis in 29% cases, only Necrotizing lymphadenitis in 19% cases and Necrotizing lymphadenitis with suppuration in 11% cases. ZN staining showed AFB in 35% cases while AFB was not seen in 65% cases. Out of these 65% cases, fluorescent staining was positive in 29%, indicating significant association of fluorescent staining with ZN method. Conclusions Only with the cytological findings of lymph node, it is difficult to arrive at confirmatory diagnosis of TB. Fluorescence Microscopy (FM) increases the sensitivity for diagnosing TB in underdeveloped nations with high tuberculosis prevalence, such as India.

18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency

Patients with chromosome 18q deletion syndrome generally experience hypogammaglobulinemia. Herein, we describe two patients with chromosome 18q deletion syndrome who presented with late-onset combined immune deficiency (LOCID), which has not been previously reported. Patient 1 was a 29-year-old male with 18q deletion syndrome, who was being managed for severe motor and intellectual disabilities at the Yamabiko Medical Welfare Center for 26 years. Although the patient had few infections, he developed Pneumocystis pneumonia at the age of 28. Patient 2, a 48-year-old female with intellectual disability and congenital malformations, was referred to Tokyo Medical and Dental University Hospital with abnormal bilateral lung shadows detected on her chest radiography. Computed tomography showed multiple lymphadenopathies and pneumonia. A lymph node biopsy of the inguinal region revealed granulomatous lymphadenitis, and a chromosomal examination revealed 18q deletion. Array-based genomic hybridization analysis revealed deletion at 18q21.32-q22.3 for patient 1 and at 18q21.33-qter for patient 2. Immune status work-up of the two patients revealed panhypogammaglobulinemia, decreased number of memory B cells and naïve CD4+ and/or CD8+ cells, reduced response on the carboxyfluorescein diacetate succinimidyl ester T-cell division test, and low levels of T-cell receptor recombination excision circles and Ig κ-deleting recombination excision circles. Consequently, both patients were diagnosed with LOCID. Although patients with 18q deletion syndrome generally experience humoral immunodeficiency, the disease can be further complicated by cell-mediated immunodeficiency, causing combined immunodeficiency. Therefore, patients with 18q deletion syndrome should be regularly tested for cellular/humoral immunocompetence.

Pathological findings and differential diagnoses of lymph node diseases in slaughtered cattle in Brazil: A study of 2000 samples

Slaughterhouse inspections play a crucial role in the sanitary control of zoonoses and foodborne diseases. This study aimed to identify and analyze the frequencies of lymph node diseases in cattle slaughtered for human consumption, using the samples sent to the anatomic pathology service of the Federal Laboratory for Agricultural Defense ( Laboratório Federal de Defesa Agropecuária), Minas Gerais, Brazil, from January 2015 to September 2022. In total, 2000 lymph node samples were analyzed, and additional information was individually retrieved. Lesions were most frequently identified in thoracic lymph nodes. Bacterial isolation and quantitative polymerase chain reaction (qPCR) were performed using samples suspected of tuberculosis. Tuberculosis cases accounted for 89.3% of the samples. Histopathology was more sensitive than other ancillary tests for diagnosing tuberculosis. Paraffin-embedded tissues from lymphoma cases were subjected to immunophenotyping using anti-CD3 and anti-CD79a immunohistochemistry. Frozen and/or paraffin-embedded tissues from lymphoma cases were used to identify the enzootic bovine leukosis (EBL) retrovirus through qPCR. Other diagnoses included primary (T- and B-cell lymphoma) and metastatic neoplasms (squamous cell carcinoma, pulmonary adenocarcinoma, undifferentiated carcinoma, undifferentiated adenocarcinoma, undifferentiated sarcoma, undifferentiated round cell tumor, mesothelioma, hepatic carcinoid, meningioma, and seminoma), actinogranulomas (pyogranulomatous lymphadenitis [actinobacillosis and actinomycosis]), idiopathic lymphadenitis (neutrophilic and/or histiocytic, granulomatous, and suppurative), and miscellaneous nonspecific lymphadenopathies (depletion/lymphoid atrophy, lymphangiectasia, erythrocyte drainage, parasitic eosinophilic lymphadenitis, follicular hyperplasia, and toxic granulomatous lymphadenitis). The combination of histopathology with complementary techniques is important for successful diagnosis, especially in complex cases of high epidemiological, economic, and zoosanitary importance, such as tuberculosis and EBL.

Granulomatous lymphadenitis in Taiwan: Unraveling infantile peak and Bacillus Calmette-Guérin lymphadenitis

BackgroundGranulomatous lymphadenitis, a histopathological diagnosis, often indicates infections, such as those caused by mycobacterial and fungal agents. MethodsWe conducted an analysis of 1098 granulomatous lymphadenitis cases, examining age distribution, lymph node locations, and laterality. Molecular detection of Bacillus Calmette-Guérin (BCG) was performed on archived formalin-fixed paraffin-embedded tissue specimens. ResultsOur analysis revealed a bimodal age distribution, notably with a minor peak in infants. These infantile cases predominantly featured axillary involvement, frequently occurring on the left side. Positive rates of BCG identification decreased with age: <1 year, 71%; 1–2 year, 33%; 2–3 year, 13%; 3–4 year, 0%. Remarkably, only one of the 14 cases with molecularly confirmed BCG lymphadenitis had comments regarding BCG in the pathological report. Compared with patients born after 2016 (BCG at 5–8 months), those born before 2016 (BCG at birth) developed BCG lymphadenitis at a wider age range with right skewness (before 2016, 13 ± 11 months [range, 3–33 months] vs. after 2016, 10 ± 2 months [range, 8–13 months]). Four of the 14 BCG-positive cases had congenital heart disease. Seven patients received anti-tuberculosis drugs following surgical excision. No surgical complications were reported. ConclusionsBCG lymphadenitis constitutes a distinctive minor peak within the spectrum of granulomatous lymphadenitis in Taiwan. Pathologists should consider the possibility of BCG infection, especially in cases of infantile axillary, supraclavicular, neck lymphadenopathies on the left side. Moreover, BCG administration at 5–8 months may reduce delayed-onset BCG lymphadenitis.

Cytological Findings of Fine Needle Aspiration Cytology in Diagnosing Causes of Cervical Lymphadenopathy in Patients Attending Health Care Facilities of Janakpur, Nepal

Background &amp; Objectives: Fine Needle Aspiration Cytology (FNAC) is a minimally invasive and inexpensive procedure that produces a rapid result. As cervical lymphadenopathies are common clinical findings with varied causes, FNAC may have an extremely important role in the diagnosis of various underlying clinical condition. Materials and Methods: A prospective multicentric study was conducted from September 2021 to June 2023 at Janakpur, Nepal. A total of 60 cases were included in the study. The procedure was performed in the cervical lymph node with a 10 ml syringe and 23 gauze needle. The obtained material was spread on the slides and stained with leishman stain and Papanicoloau (PAP) stain. Acid Fast Bacilli (AFB) stain was done for suspected cases of M. tuberculosis infection. Results: The diagnosis based on FNAC procedure were categorized as reactive lymphadenitis (21 cases, 35%), tuberculous lymphadenitis (14 cases, 23.33%), granulomatous lymphadenitis (8 cases, 13.33%), suppurative lymphadentitis (7 cases, 11.66%) and positive for malignancy (3 cases, 5%). The most common diagnosis in the current study of cervical lymphadenopathy was reactive lymphadenitis followed by tuberculous lymphadenitis. Conclusion: FNAC is a quick and reliable method to find the cause of cervical lymphadenopathy allowing appropriate diagnosis, timely management and further investigation if needed.

Significance of Various Diagnostic Modalities in Detection of Tuberculosis in Cervical Lymphadenopathy: A Study of 200 Cases.

Extrapulmonary tuberculosis (EPTB) makes for 25% of all instances of tuberculosis (TB) patients. The enigmatic clinical presentation of EPTB makes identification difficult since it simulates other chronic conditions such as neoplastic and inflammatory disorders and could culminate in treatment that is either insufficient or not required. For an affirmative and confirmed diagnosis, a substantial level of suspicion is imperative. The paucibacillary feature of EPTB makes diagnosis extremely difficult and necessitates the use of many diagnostic methods to arrive at a precise diagnosis. In December 2010, the World Health Organization recommended using GeneXpert/cartridge-based nucleic acid amplification test (CBNAAT) for the initial assessment of suspected cases of EPTB. Furthermore, fine-needle aspiration cytology (FNAC), Ziehl-Neelsen (ZN) stain, and the CBNAAT have to be utilized to exclude other possible origins of granulomatous inflammation. The goal of the current investigation is to comprehend how FNAC and ZN stains relate to CBNAAT and their diagnostic value. The evaluation included all suspected instances of tubercular lymphadenopathy, and adequate aspirates were obtained from the site of the enlarged cervical lymph nodes. Smears were made following FNAC and stained with ZN stain as well as hematoxylin and eosin stain. Simultaneously, CBNAAT and culture evaluations were conducted on the same aspirates. This cross-sectional study took place at a tertiary care center and encompassed 200 individuals with clinical manifestations of EPTB. There were 200 cases of suspected tubercular lymphadenitis (TBLN). According to the FNAC results, TBLN was detected in 71 (47.6%) of these 200 cases, followed by necrotizing lymphadenitis in 56 (37.5%), chronic caseating granulomatous lymphadenitis in 47 (31.5%), and reactive lymphadenitis in 26 (17.4%). They were correlated with CBNAAT results, which showed that all instances of tuberculous lymphadenitis, 85.71% of cases of necrotizing lymphadenitis, 55.32% of cases of chronic caseating granulomatous lymphadenitis, and 2 (7.69%) cases of reactive lymphadenitis were CBNAAT positive. CBNAAT should be utilized with FNAC and ZN staining to diagnose EPTB. The CBNAAT assay demonstrated a significant advantage in the identification of previously unidentified FNAC patients. Despite being a simple diagnostic tool, FNAC has a lower specificity and significantly lower precision than CBNAAT in correctly identifying cases of EPTB because it exhibits similar cytomorphological characteristics with lesions that are not associated with TB.

Utility of Conventional ZN Staining and Modified Bleach Techniques in Detection of Acid Fast Bacilli from Aspirates of Suspected Cases of Tuberculous Lymphadenitis

Introduction: Tuberculosis (TB) is a significant public health problem in many developing countries, including India. Diagnosing tuberculous lymphadenitis, in particular, poses challenges as it requires the demonstration of Acid-Fast Bacilli (AFB) using the conventional Ziehl-Neelsen (ZN) technique. The Modified Bleach Technique, which involves liquefying the aspirated specimen with sodium hypochlorite followed by centrifugation, has been described to enhance the yield of AFB, improving sensitivity and diagnostic accuracy. Aim: To highlight the role of the bleach concentration method compared to conventional ZN staining in detecting AFB in Fine-Needle Aspiration (FNA) material from clinically suspected cases of tuberculous lymphadenitis. Materials and Methods: A prospective cross-sectional study was conducted at the Department of Pathology, MVJ Medical College and Research Hospital, Bengaluru, Karnataka, India from November 2020 to December 2022. Fine needle aspiration material from 100 cases of clinically suspected tuberculous lymphadenitis was included. In each case, part of the aspirate was processed for ZN staining, while the remaining material was used for modified bleach staining and Cartridge Based Nucleic Acid Amplification Test (CBNAAT). Patient data, including age, sex, duration and site of swelling, nature of aspirate, and cytomorphological diagnosis, were documented. The data was entered into a Microsoft excel spreadsheet and analysed using the Chi-square test, with a p-value&lt;0.05 considered statistically significant. Results: The age range of the study participants was 1-80 years. Out of 100 cases, 13 were excluded due to inadequate material. The most common lymph node site was cervical 69 (79.3%), followed by axillary 8 (9.1%) and supraclavicular 6 (6.89%). Among the 87 cases, reactive lymphadenitis was diagnosed in 36 (41.3%), suppurative lymphadenitis in 12 (13.8%), necrotising granulomatous lymphadenitis in 12 (13.8%), granulomatous lymphadenitis in 15 (17.3%), and necrotising lymphadenitis in 12 (13.8%). Out of the 100 cases included in the study, 32 cases were confirmed as tubercular lymphadenitis by CBNAAT. Among these 32 cases, conventional ZN stain was positive for AFB in only 3 cases (9%), whereas the Modified bleach stain was positive in 16 cases (50%). The results were compared with CBNAAT findings, and the modified bleach technique showed sensitivity (59.4%), specificity (100%), Positive Predictive Value (PPV) (100%), Negative Predictive Value (NPV) (80%), and Accuracy (85%). Conclusion: The Modified bleach method of ZN staining is a simple, safe, inexpensive, and easy-to-perform technique. With the bleach method, AFB was easily visible and detectable in the majority of AFB-positive cases. Additionally, the bleach method preserved the morphology of AFB better. It improves the microscopic detection of AFB, leading to a definitive diagnosis of TB on cytology.

COVID-19 vaccine-associated lymphadenopathy: a review.

Following the introduction of RNA-based vaccines, COVID-19 vaccine-associated clinical lymphadenopathy (C19-LAP) has been reported as a side effect. Moreover, subclinical lymphadenopathy detected on imaging (SLDI) has also been observed, mainly as incidental findings while performing screening tests on oncological patients. In these cases, surgical lymphadenectomy, fine-needle aspiration cytology (FNAC) and core needle biopsy (CNB) have been used as a valuable diagnostic tool for SLDI and C19-LAP. In this review the clinical, histologic and cytologic features of SLDI and C19-LAP have been investigated. A search for studies that reported on C19-LAP and SLDI histopathology and cytopathology was performed on PubMed and Google Scholar, on 11 January 2023. Thirty-one reports on SLDI and C19-LAP were retrieved and included in a pooled analysis. In total, we included 54 patients with a median age of 47 years. In our research, surgical excision, CNB and/or FNAC of C19-LAP or SLDI enlarged lymph nodes have been performed in 54 cases. Of all cases, only two metastases were diagnosed and one case was diagnosed as reactive hyperplasia with atypical follicles. The remaining cases were reactive lymphadenopathy (28 cases), follicular hyperplasia (13 cases), Kikuchi-Fujimoto disease (6 cases), granulomatous lymphadenitis (2 cases), eosinophilic lymph node abscesses (1 case), Langherans cell histiocytosis (1 case), Rosai-Dorfman disease (1 case). SLDI and C19-LAP have represented a diagnostic dilemma, especially in oncologic patients. The role of different diagnostic tools for SLDI and C19-LAP has been discussed.

Three cases of sterile granulomatous dermatitis and lymphadenitis in a female Golden Retriever and her litter of pups

Three cases of sterile granulomatous dermatitis and lymphadenitis in a female Golden Retriever and her litter of pups

The spectrum of cytological findings in patients with BCG lymphadenitis: A series of 13 cases

ContextBacillus Calmette–Guérin (BCG) vaccine has been used to prevent tuberculosis and/or its severe complications for long. BCG lymphadenitis is a common complication of the vaccine, which is sometimes subjected to cytological examination.The aim of the study is to describe the cytological findings of BCG lymphadenitis. SettingsThe study was conducted in a tertiary care hospital in the western part of India from January 2021 to December 2022. DesignThe study was performed on archived material of all patients who were referred to the fine needle aspiration clinic for cytology examination. Clinical and pathological data of cases were retrieved, and cases of BCG lymphadenitis were selected in the study based on these data. Slides of cases were retrieved, and cytological findings were studied. Materials and methodsPapanicolaou, Giemsa, and Hematoxylin & eosin-stained smears, as well as Ziehl-Neelson stain (Z.N. stain) smears of all BCG lymphadenitis cases, were retrieved. Cases were reviewed for individual cytological features and overall cytological diagnostic categories. Z.N. stain smears were evaluated for acid-fast bacilli. Results and conclusionsDiagnostic categories observed in BCG lymphadenitis include suppurative lymphadenitis/abscess (15 %), necrotizing lymphadenitis (23 %), necrotizing granulomatous lymphadenitis (46 %), suppurative granulomatous lymphadenitis (8 %), non-necrotizing granulomatous lymphadenitis (8 %). Acid-fast bacilli were detected by Z.N. stain in 8 cases (62 %).The cytological findings of BCG lymphadenitis closely overlap with those of tuberculous lymphadenitis. So, clinical context is very important while reporting isolated axillary lymphadenopathy, specifically in recently vaccinated infants, to avoid misdiagnosis as tuberculous lymphadenitis.

To study the diagnostic role of fine needle aspiration biopsy cytopathology in lymph node lesions and to find out the pattern of lymphadenopathy among patients visiting Tertiary care hospital: A cross-sectional study

Fine needle aspiration cytology (FNAC) can be a valuable tool for the evaluation of lymphadenopathies. The purpose of this study was to study the diagnostic role of FNAC in lymph node lesions and to find out the pattern of lymphadenopathy among patients visiting Tertiary care hospital. Fine needle aspiration biopsy cytopathology was carried out. Giemsa staining of all FNAC smears was done and Ziehl-Neelsen staining (ZN Stain) was done to confirm the diagnosis if required. Lymph nodes were evaluated for location, consistency, size, mobility. Commonest site involved was cervical region (91.38%), most frequently encountered size was 1 - 2 cm (35.64%), majority of lesions were firm (87.35%), and most of the lymph nodes (95.40%) were mobile. Out of 166 diagnosed cases by FNAC, 95.78% were diagnosed as benign lesions and 4.22% as malignant lesions. 30.72% benign lesions were of reactive hyperplasia and 27.11% were of granulomatous lymphadenitis. All malignant lesions were the secondary lesions. We conclude that FNAC of lymph nodes is a very common, simple, safe, economical, and quick diagnostic technique that eliminates the need for an open biopsy, anesthetic, surgical complications, and hospital stays.

Mesenteric Lymphadenopathy: a Rare Case of Rosai-Dorfman Disease

Introduction: &#x0D; Rosai-Dorfman Disease (RDD) is rare with approximately 100 new cases annually in the United States and a mean age of 20.6 years [1]. RDD is characterized by massive lymphadenopathy and sinus histiocytosis [1]. Bilateral cervical lymphadenopathy is the typical presentation, however extra nodal sites have been noted [1]. This case discusses manifestations of a rare disease state. &#x0D; Case Presentation: &#x0D; A 19 year old male with a history of eczema and juvenile rheumatoid arthritis presented to the emergency room with four days of diffuse abdominal pain localized to the left upper quadrant, radiation to the right lateral ribs with nausea and diarrhea. He reported an unintentional weight loss of 30 pounds in the last three months. Physical exam revealed generalized abdominal tenderness and rebound. Computed tomography of the abdomen and pelvis (CTAP) along with routine labs were ordered. CTAP showed retroperitoneal lymphadenopathy up to two centimeters in the short axis (figure 1) and mesenteric adenopathy with a 15 millimeter lymph node in the right lower quadrant. Histopathology reported necrotizing granulomatous lymphadenitis with benign sinus histiocytes. Referral to rheumatology was made and treatment was initiated with prednisone 20 milligrams daily with plans for repeat abdominal imaging to evaluate for reduction of adenopathy. &#x0D; Discussion: &#x0D; RDD coexists with immunologic disease in 10% of cases.3 It has been associated with systemic lupus erythematous, idiopathic juvenile arthritis, autoimmune hemolytic anemia,24 and one case of RAS-associated autoimmune leukoproliferative disease [1]. The prognosis for RDD is indolent, 50% of patients experiencing resolution, one third with residual asymptomatic adenopathy and 17% with persistent symptomatology [2]. Our case highlights our patient’s associated history of juvenile rheumatoid arthritis now presenting with histological findings of RDD. A methodical approach to assessing patients with diffuse abdominal pain and ensured collaboration amongst different medical specialists will ensure favorable treatment outcomes.

ATYPICAL PRESENTATION OF THYROID MALIGNANCIES: A CASE SERIES

Introduction: Differentiated thyroid cancer mainly metastasizes to regional lymph nodes and rarely to distant organs. Papillary thyroid carcinoma can metastasize via lymphatic pathway and follicular thyroid neoplasms through vascular channels. Here we present 3 cases with atypical presentations and synchronous/metachronous primary tumours (non-endocrine). Case Reports: Case 1: A 43-year-old female with no known comorbidities presented with right shoulder pain. X-ray showed a missing rib incidentally. A CT thorax suggested metastatic bony mass. PET CT for finding primary malignancy showed uptake in thyroid. Her TFT was normal. FNAC thyroid with bone biopsy confirmed follicular carcinoma thyroid with bone metastasis. Case 2: A 33-year-old male presented with hematuria was diagnosed to have renal cell carcinoma. He underwent right radical nephrectomy. A follow up PET CT as per protocol showed hypermetabolic hypodense nodule in the left lobe of thyroid gland. His TFT showed hypothyroidism, but patient had no related complains. Biopsy confirmed papillary thyroid carcinoma. Case 3: A 48-year-old female came with fever and cervical lymphadenopathy. USG neck showed TIRADS 4 lesion with retrosternal extension. FNAC taken from the lymph node showed chronic granulomatous lymphadenitis suggestive of TB with Mantoux test being positive. She was started on ATT but thyroid lesions still persisting with lymphadenopathy. She underwent total thyroidectomy and biopsy showed infiltrating neoplasm arranged in papillary pattern. Here, her TB was masquareding the thyroid malignancy. Conclusion: The clinical presentation of thyroid metastases to uncommon sites are difficult to diagnose. Thyroid malignancies presenting with atypical features are not uncommon, but at times diagnosis and timely management is difficult in such cases.

A rare case of Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterised by oculocutaneous albinism, a bleeding diathesis and platelet storage deficiency. Aim of this paper is to report a case of patient with HPS who was followed over a decade. A 2-and-a-half-year-old boy presented with recurrent respiratory tract infections and global developmental delay. On examination, he had light golden hair, grey iris with nystagmus, fundus hypo-pigmented fovea and white macules all over body. Also found to have neutropenia without granules on peripheral smear. HPS can often be diagnostic dilemma mimicking disorders like Chediak-Higashi syndrome (CHS), in this case diagnosis was made due to characteristic skin and hair hypopigmentation and ocular findings along with bleeding diathesis. Our patient categorised under HPS2 subtype which has mild immunodeficiency. HPS is usually associated with neutropenia and hence pyogenic infections, present case however was associated with advanced form of pulmonary tuberculosis-miliary TB and granulomatous TB lymphadenitis giving rise to the possibility of T-cell defect.

Tuberculous Lymphadenitis: Analysis of Cytomorphological Features with Utility of Genexpert MTB/RIF and Other Microbiological Test as an Adjunct to Cytology

Objectives: This study was undertaken to categorize various cytomorphological patterns of tuberculous lymphadenitis and with utility of Xpert MTB/RIF as an adjunct to cytology. Materials and methods: Cases based on various cytomorphological features were categorized into 3 patterns as 1. Granulomatous lymphadenitis (GL), 2. Necrotizing granulomatous lymphadenitis (NGL) 3. Necrotizing lymphadenitis (NL). The utility of microbiological test on cytosmears and histopathological examination were assessed in these categories wherever available. Results: Overall cytology had 86% sensitivity, 94% specificity, 92% positive and negative predictive value for diagnosis of tuberculosis. All these categories were correlated with microbiological test and gene Xpert wherever available. NGL had higher positive predictive value indicating that this group when subjected to microbiological methods provide definite diagnosis of tuberculosis. GL had higher specificity; hence negative microbiological test should be subjected to histopathological examination to rule out other causes of granulomatous lymphadenitis. GeneXpert when combined with cytologically suspicious smears, has high sensitivity of 85% and the agreement with culture is moderate as indicated by the kappa value of 0.4%. Conclusion: A synchronous analysis of cytomorphological features and GeneXpert and other microbiological test increases the diagnostic yield of Tuberculosis. Excisional biopsy for diagnosis of tuberculosis should be recommended only for patients in whom Fine Needle Aspiration Cytology PCR is negative or there is discrepancy with the clinical impression.

Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.

Monosomy 7 is the most common cytogenetic abnormality in pediatric myelodysplastic syndrome (MDS) and associated with a high risk of disease progression. However, in young children, spontaneous loss of monosomy 7 with concomitant hematologic recovery has been described, especially in the presence of germline mutations in SAMD9 and SAMD9L genes. Here, we report on our experience of close surveillance instead of upfront hematopoietic stem cell transplantation (HSCT) in seven patients diagnosed with SAMD9L syndrome and monosomy 7 at a median age of 0.6 years (range, 0.4-2.9). Within 14 months from diagnosis, three children experienced spontaneous hematological remission accompanied by a decrease in monosomy 7 clone size. Subclones with somatic SAMD9L mutations in cis were identified in five patients, three of whom attained hematological remission. Two patients acquired RUNX1 and EZH2 mutations during the observation period, of whom one progressed to myelodysplastic syndrome with excess of blasts (MDS-EB). Four patients underwent allogeneic HSCT at a median time of 26 months (range, 14-40) from diagnosis for MDSEB, necrotizing granulomatous lymphadenitis, persistent monosomy 7, and severe neutropenia. At last follow-up, six patients were alive, while one passed away due to transplant-related causes. These data confirm previous observations that monosomy 7 can be transient in young children with SAMD9L syndrome. However, they also indicate that delaying HSCT poses a substantial risk of severe infection and disease progression. Finally, surveillance of patients with SAMD9L syndrome and monosomy 7 is critical to define the evolving genetic landscape and to determine the appropriate timing of HSCT (clinicaltrials gov. Identifier: NCT00662090).