Indian Journal of Pathology & Microbiology

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Immunohistochemical expression of H3.3 G34W in 100 giant cell tumors of bone and its diagnostic mimics, including its value in resolving uncommon diagnostic scenarios: A single institutional study at a tertiary cancer referral center, India
(Wolters Kluwer – Medknow, 2024-09) Rekhi, Bharat; Dave, Vinayak; Butle, Ashwin; Dharavath, Bhasker; Khetale, Sonali; Redhu, Archana K.; Singh, Rudransh; Dutt, Amit
Background: There can be a diagnostic challenge in differentiating giant cell tumor of bone (GCTB) from its mimics. Lately, histone H 3F3A (Histone 3.3) G34W has been identified as a promising immunohistochemical marker. Aims: This study was aimed at evaluating H3.3 G34W immunostaining in 100 GCTBs, including its value in resolving diagnostic dilemmas. Materials and Methods: Immunohistochemical staining for H3.3 G34W was graded in terms of staining intensity (1+ to 3+) and the percentage of tumor cells showing crisp nuclear staining. Results: One hundred GCTBs occurred in 58 males and 42 females (M: F ratio = 1.3), of 7?66 years age (average = 31.3, median = 28), commonly in distal femur (26), followed by proximal tibia (17), distal radius (12), proximal humerus (7), metacarpals (7), sacrum (6), proximal fibula (6), and relatively unusual sites (19), including a single multicentric case. Out of 92 GCTBs, wherein H3.3 G34W immunostaining worked, 81 (88.1%) showed positive staining in the mononuclear cells, including tumors with fibrous histiocytoma?like areas, sparing osteoclast?like giant cells, with 3+ staining intensity in 65/81 (80%) tumors. All 7/7 (100%) malignant GCTBs showed positive staining, including the pleomorphic/sarcomatous cells. All 7/7 (100%) metastatic GCTBs showed positive immunostaining. Seven out of 10 post?denosumab treated GCTBs showed positive H3.3 G34W immunostaining in the residual mononuclear cells. None of the other 37 “giant cell?rich” lesions displayed H3.3 G34W immunostaining. Four of 9 GCTBs tested for H3.3 G34W mutation showed positive results. Conclusions: The diagnostic sensitivity and specificity of H3.3 G34W for GCTB were 88.1% and 100%, respectively. This constitutes one of the first reports from our country, further validating the diagnostic value of H3.3 G34W in differentiating GCTB, including metastatic and malignant forms from its mimics, including small biopsy samples. Its value in various diagnostic dilemmas is presented and utility in identifying residual tumor cells in post?denosumab treated GCTBs is worth exploring.
Histomorphometric and molecular characterization of stromal and mineralized components in fibro-osseous lesions
(Wolters Kluwer – Medknow, 2024-09) Grover, Himani; Gulati, Nikita; Juneja, Saurabh; Shetty, Devi Charan
Background: Indistinct and analogous histopathological features of various fibro?osseous lesions make establishing a definitive diagnosis a challenge. There is a need for additional molecular and histochemical tools to support and differentiate these lesions in order to establish a concrete diagnosis. Materials and Methods: A retrospective analysis of biopsied lesions in formalin?fixed paraffin?embedded sections (10 cases each of fibrous dysplasia, ossifying fibroma, and cement?osseous dysplasia) retrieved from the archives was studied for immunoexpression of osteocalcin (quantitative analysis in osteocytes), collagen characterization using Azan, Picrosirus, and Toluidine blue stain for evaluating intensity and localization of collagen fibers, and morphometric analysis of vasculature (for evaluating mean vessel density as square microns). Results: Positive immunostaining of osteocalcin suggested mutations of the GNAS?1 gene found in fibrous dysplasia indirectly, as it is a negative regulator of bone formation. Osteocalcin immunopositivity was quantitatively measured in the fibro?osseous lesions, with fibrous dysplasia measuring 14.47 ± 3.628 as compared to ossifying fibroma measuring 5.23 ± 1.33, followed by cemento?osseous dysplasia measuring 2.30 ± 1.409. Toluidine blue suggests the presence of oxytalan fibers (resistant to acid hydrolysis) in ossifying fibroma and cemento?osseous dysplasia, pointing toward the pathogenesis of the lesion. Azan stain and Picrosirus (under a polarizing microscope) helped in distinguishing hard tissue characteristics (70% of cases of fibrous dysplasia showed only a magenta component followed by intermixed magenta with a blue component in 20% of cases and only 10% of cases showed magenta with blue borders whereas for ossifying fibroma, 40% of cases depicted magenta with blue borders along with the other 40% with intermixed magenta with blue component). The mean vessel density was also highest in fibrous dysplasia measuring 7.90 ± 1.079 (in Sq. micron area), followed by ossifying fibroma and cemento?osseous dysplasia. Conclusion: The diagnosis of fibro?osseous lesions by hematoxylin and eosin alone is confusing and thus should be supported by relatively simple histomorphometric analysis for better treatment outcomes. At the diagnostic stage of fibro?osseous lesions, evaluation of intralesional vessel size, reliable molecular marker, and histochemical nature can aid in differentiating fibrous dysplasia from central ossifying fibroma and cemento?osseous dysplasia alongside, other clinical, radiographic and pathological criteria. These parameters help in the diagnostic decision?making of fibro?osseous lesions.
The spectrum of pathologic lesions in spleen in patients with acquired immunodeficiency syndrome: Autopsy report of 257 patients
(Wolters Kluwer – Medknow, 2024-09) Lanjewar, Dhaneshwar N.; Kavatkar, Anita N.
Background: Human immunodeficiency virus (HIV) infection continues to persist in India over the past three decades. The involvement of the spleen in these patients has a wide array of differentials with opportunistic infections and malignancies. The spectrum of splenic lesions in patients with HIV/AIDS has not been described in the Indian literature. Materials and Methods: A retrospective study was designed to understand the spectrum of splenic pathology in patients with HIV/AIDS. The specimens of the spleen obtained at autopsy in 257 patients over a period of 29 years were systematically analyzed. Results: Among 257 patients, 197 (77%) were males and 60 (23%) were females with a heterosexual route of transmission in 246 (96%) patients. There were 236 (92%) patients from the pre?highly active anti?retroviral therapy era, while 21 (8%) patients had received highly active anti?retroviral therapy for a short duration. The most frequent splenic pathology identified was tuberculosis, noted in 135 (52%) patients, manifesting as military lesions (119 patients, 46%), tuberculous abscesses (13 patients, 5%), and tuberculosis associated with splenic infarcts (03, 1%) patients. The other pathologies noted were cryptococcosis in 17 (7%) patients, malarial infection in 13 (5%) patients, and cytomegalovirus infection in 01 (0.5%) patient. The other findings identified were chronic passive venous congestion, perivascular fibrosis, hemosiderosis, and amyloidosis. In addition, absence or depletion of lymphocyte was noted in 98 (38%) patients and in 4 (1.5%) patients diffuse large B?cell lymphoma was found. Conclusions: Patients with HIV/AIDS presenting with splenic lesions have a wide array of differentials, such as tuberculosis, opportunistic infection, and the lymphoma. This study provides a better insight into the splenic lesions in patients with AIDS in India.
Determination of target genes for classified molecular subtypes of triple-negative breast cancer form microarray gene expression profiling: An integrative in silico approach
(Wolters Kluwer – Medknow, 2024-09) Ray, Manisha; Banik, Suranjana; Sable, Mukund N.
Background: Highly heterogeneous triple?negative breast cancer (TNBC) has tough clinical features, which were gradually solving and improving in diagnosis by the molecular subtyping of TNBC. Aim: Presently, this study was focused on analyzing the genetic makeup of TNBC subtypes. Settings and Design: This study explored the MicroArray expression profiling of differentially expressed genes in molecular subtypes BL1, BL2, IM, luminal androgen receptor, M, and mesenchymal stem?like of TNBC by analyzing the Gene Expression Omnibus dataset GSE167213. Various gene ontologies?based protein–protein interaction (PPI) networks were subtyped TNBC genes. The effect of genetic alteration on TNBC cases was also interpreted. Materials and Methods: The MicroArray gene expression profiling was done through R programming and subjected to functional annotation through the database for annotation, visualization, and integrated discovery. The PPI networking of functionally associated genes was interpreted by STRING. The survival analysis was done through cBioPortal. Statistical Analysis Used: The t?test was used through R programming to generate the P values for a test of the significance of expressed genes. Results: A total of 54,613 significant probes were analyzed in the TNBC MicroArray dataset. The functional PPI networks of BL1, BL2, and IM upregulated genes showed significant associations. The survival analysis of differentially expressed genes showed the significant prognostic effect of 32 upregulated genes of different subtypes on TNBC cases with genetic alterations, whereas the remaining genes showed no significant effects. Conclusion: The output of the present study provided significant target gene panels for different TNBC subtypes, which would add an informative genetic value to TNBC diagnosis.
Upregulated LncRNA-LINC00659 expression by H. pylori infection promoted the progression of gastritis to cancer by regulating PTBP1 expression
(Wolters Kluwer – Medknow, 2024-09) Zhang, Jiani; Zhang, Zhengbo; Shen, Danlei
Context: Helicobacter pylori (H. pylori), a spiral?shaped bacterium, is closely associated with chronic, progressive gastric mucosal damage, gastric atrophy, and even gastric cancer (GC). An increasing number of studies have addressed the correlation between long noncoding RNAs (lncRNAs) and H. pylori pathogenicity in GC. Objective: In this study, we found that the expression level of LINC00659 gradually increased in the progression from atrophic gastritis, intestinal metaplasia, and dysplasia to GC in H. pylori?infected patients. Thus, we aimed to further explore the function of LINC00659 in the progression of gastritis to cancer under H. pylori infection. Materials and Methods: StarBase predictions, ribonucleic acid (RNA)?binding protein immunoprecipitation assays, and gene ontology functional annotation (GO)/Kyoto encyclopedia of genes and genomes (KEGG) pathway analysis were performed to identify the RNA?binding proteins of LINC00659; moreover, qRT?PCR, western blotting, RNA interference, and immunofluorescence assays were used to investigate the function of LINC00659. Results: LINC00659 bound directly to the RNA?binding protein polypyrimidine tract?binding protein (PTBP1). Importantly, qRT?PCR and western blot assays demonstrated that PTBP1 expression increased in the progression from inflammation to cancer in the stomach of H. pylori?infected patients and H. pylori?infected GES?1 cells. However, LINC00659 knockdown downregulated PTBP1 expression and inhibited PTBP1 binding under H. pylori infection. Finally, LINC00659 knockdown significantly reduced H. pylori?induced human gastric epithelial cell senescence and suppressed interleukin (IL)?6 and IL?8 secretion by reducing the phosphorylation level of NF? ?B p65. Conclusions: This study indicated that LINC00659 may have the potential to be a novel promising prognostic and therapeutic marker for H. pylori?associated gastric diseases.
GLUT1 and ASCT2 expression and their prognostic value in colorectal carcinoma
(Wolters Kluwer – Medknow, 2024-09) Ibrahiem, Afaf T.; Refat, Sherine; Elnaghi, Khaled; Emarah, Ziad; Nagib, Reham Mohamed
Background: Investigation of new molecular markers expressed in colorectal carcinoma can help to select patients getting benefits from new target therapeutic modalities. Aim: Investigation of expression of GLUT1 and ASCT2 in colorectal carcinoma. Materials and Methods: Sixty three colorectal resection specimens for cases diagnosed with colorectal carcinoma were included in the study. Full sections were examined for histopathological data including tumor type, grade, stage, and lymphovascular invasion were recorded. TMA blocks were constructed and immunostained with polyclonal antibodies for both GLUT1 and ASCT2. Results: GLUT1 was expressed in 82% of cases while ASCT2 was expressed in 76% of cases. Statistically significant correlation was found between both GLUT1 and ASCT2. A statistically significant correlation was found between either marker with both disease stage and lymph node metastases. No significant correlation was found between either GLUT1 or ASCT2 and any of the clinical parameters as well as with disease?free survival. Conclusion:GLUT1 and ASCT2 are more prevalent in poorly differentiated and advanced stage colorectal carcinoma. Their expression in high percentage of cases can suggest the possible role of their target therapies in colorectal carcinoma.
Application of liquid biopsy in lung cancer management
(Wolters Kluwer – Medknow, 2024-09) Satapathy, Shraddhanjali; Thirunavukkarasu, Balamurugan; Jain, Deepali
Current advances in the understanding of the lung cancer landscape have drastically changed the approach to treating a patient with lung carcinoma. The field has progressed from analyzing single gene to using advanced techniques like next?generation sequencing and microarray technology. While a tumor tissue sample is considered the gold standard, it has several limitations. The limitations of invasive procedures, long processing periods, inaccessibility, and sample inadequacy are being addressed by sampling biofluids, termed ‘liquid biopsy,’ which offers a less invasive and more accessible way to obtain tumor?related information. Liquid biopsy has transformed the care of lung cancer patients by directly targeting somatic alterations from tumors. This article provides insights into the biology, technical aspects, limitations, and practical applications of ‘liquid biopsy,’ focusing on cell?free DNA and circulating tumor DNA in the context of lung cancer.
Role of circulating microRNAs in non-small cell lung carcinoma
(Wolters Kluwer – Medknow, 2024-09) Baranwal, Harshita; Mishra, Shravan K.; Kumari, Niraj; Singh, Shalini; Krishnani, Narendra; Nath, Alok; Neyaz, Zafar
Introduction: Non?small cell lung cancer (NSCLC) is the leading cause of mortality globally. Early imaging detection modalities are associated with high false?positive rates and radiation exposure. A non?invasive biomarker can serve as an improvised method for early detection. MicroRNAs can serve as a potential non?invasive biomarker as they are stable in circulation, tissue or biological process?specific, easy to detect, cost?effective, and not associated with radiation hazards. This study validates circulating microRNA in NSCLC of the Indian population and studies its correlation with clinicopathological parameters. Materials and Methods: Circulating microRNA (?miR?193b, miR?301a, miR?7, and miR?25) was evaluated in 101 cases of tissue?proven NSCLC and 28 controls in serum samples. Results: There were 67 male and 34 female patients (Male: Female = 1.97:1). The age range was 25 to 86 years with a median age of 60 years. There was a significant upregulation in the expression of miR?193b in the NSCLC group as compared to controls (P = 0.034). MiR?7 was also upregulated while miR?25 and miR?301a were downregulated in NSCLC as compared to controls; however, a level of significance was not achieved. ROC curve analysis for miR?193b showed an AUC of 0.636 (95% CI, 0.522?0.750; P-value = 0.036) between NSCLC cases and controls. Conclusion: The present study showed variable expression of the above?studied miRNAs. MiR?193b showed a significant upregulation in cancer patients; however, the other three miRNAs were not conclusive. This suggests that profiling of microRNA in each population is essential to search for a valid non?invasive biomarker in that population.
Adult-type rhabdomyoma of the lung: A case report
(Wolters Kluwer – Medknow, 2024-06) Wu, Yimin; Li, Wenshan; Chai, Ying
Adult rhabdomyoma is an uncommon and benign striated muscle tumor consisting of striated muscular tissue. This neoplasm usually originates from cardiac muscle, and extracardiac rhabdomyoma is extremely rare. Herein, we report a case of adult rhabdomyoma in the lung, which has only been reported once in the 1970s. A 62?year?old woman presented to our hospital with a solid nodule on the right upper lobe. We performed tumor resection surgery and confirmed the diagnosis of adult rhabdomyoma by postoperative pathological examination. Herein, we report the clinical and pathologic characteristics of pulmonary adult rhabdomyoma (PAR) and review the literature about adult rhabdomyoma.
MiT family translocation-associated renal cell carcinoma: A report of two cases in children
(Wolters Kluwer – Medknow, 2024-06) Mukherjee, Sriranjan; Basu, Keya; Basu, Kalyani S.; Chatterjee, Uttara
Renal cell carcinoma is uncommon in children and must be distinguished from the more common Wilms’ tumor. Here, we present two cases of renal cell carcinoma in children both of whom presented with hematuria. Accurate diagnosis is essential in order to differentiate it from epithelial predominant Wilms’ tumor which has vastly different prognosis and treatment. Immunohistochemistry for TFE3 is useful in establishing the diagnosis.
Primary extranodal NK/T cell lymphoma of stomach: A case report and review of literature
(Wolters Kluwer – Medknow, 2024-06) Mane, Prashant; Ramteke, Prashant; Singh, Anand; Gogia, Ajay; Mallick, Saumyaranjan
Extranodal Natural killer/T (NK/T) cell lymphoma nasal type is an aggressive non?Hodgkin lymphoma and has a constant association with Epstein?Barr virus (EBV) infection. Approximately more than 75% cases are located in upper aero?digestive tract, of which stomach is a very rare site. Very few cases of gastric extranodal NK/T cell lymphoma have been reported in the literature. A 22?year?old male patient presented with complaints of abdominal pain and hematemesis. Endoscopy showed a large ulcer in the stomach. Partial gastrectomy done and histopathology showed transmural infiltration by intermediate size atypical lymphoid cells which are immunopositive for CD3, CD56, TIA, EBV?encoded RNA (EBER) and negative for CD4, CD8, CD20. A diagnosis of extranodal NK/T cell lymphoma nasal type was made.
Cytomorphometric analysis of buccal mucosal cells in iron deficiency anemia: A cross-sectional study
(Wolters Kluwer – Medknow, 2024-03) Swati, S Patil; Sangeeta, J Palaskar; Bindiya, R Narang; Rasika, B Pawar; Pargatsingh, T Kathuriya; Yogesh, S Khandalkar
Background: Worldwide, at any given moment, more individuals have iron deficiency anemia (IDA) than any other health problems. Very few studies have been conducted to evaluate changes in oral mucosa in IDA. The present study is undertaken for cytomorphometric analysis of buccal mucosal cells in IDA. Nuclear diameter (ND), cell diameter (CD), nuclear area (NA), cell area (CA), and nuclear?cytoplasmic ratio (N/C) are measured and compared in buccal mucosal cells of IDA patients and controls. Aims: To evaluate cytomorphometric changes in epithelial cells of oral mucosa in IDA and to compare these changes with the controls. Settings and Design: A cross?sectional study. Methods and Materials: Forty cases of IDA and forty cases of control group were selected for the study. IDA cases were diagnosed with decreased Hb level, MCV, MCH, MCHC and confirmed by decreased serum iron and increased total iron?binding capacity levels. Cytomorphometric analysis of buccal mucosa was performed to study CA, CD, NA, ND, and N/C ratio. Statistical Analysis Used: Statistical analysis was done using t? test in SPSS software version 4. Result: Results of our study showed increased cell area, cell diameter, nuclear area, nuclear diameter, and nuclear?cytoplasmic ratio in anemic group as compared to controls. Conclusion: The study suggests that individuals with IDA regardless of clinically visible oral lesions show cytological changes in oral mucosal epithelium. Knowledge of quantitative alterations in oral epithelial cells of IDA patients is important as these alterations are similar to those seen in precancerous and radiation?induced changes. Cytomorphometry is an efficient tool to understand the extent of cellular changes that occur in oral epithelial cells in IDA.
Adenoid ameloblastoma with dentinoid: A rare hybrid odontogenic tumor
(Wolters Kluwer – Medknow, 2024-06) Chettiankandy, Tabita J.; Sachdev, Sanpreet S.; Kende, Prajwalit P.; Sardar, Manisha A.; Saju, Reshma
Background: Adenoid ameloblastoma with dentinoid (AAD) is a hybrid odontogenic tumor comprising histopathological presentation of ameloblastoma (AM) and adenomatoid odontogenic tumor (AOT) along with extracellular dentinoid material. Case Presentation: A 35?year?old female reported an asymptomatic swelling in the left mandibular posterior region. Histopathological examination revealed composite features of AM with AOT along with dentinoid material, which stained positively with Van Gieson and trichrome stains. Conclusion: The present case report serves to add further to the modicum of literature reports pertaining to AAD, which may gain recognition as a distinct entity in future World Health Organization (WHO) classification of odontogenic tumors.
Extranodal nasal-type NK/T-cell lymphoma with CD20 positive: A case report and review of literature
(Wolters Kluwer – Medknow, 2024-06) Han, Yongliang; Wei, Shufei; Zhang, Yihang; Wang, Liangliang; Xu, Xiao
Extranodal nasal?type natural killer (NK)/T?cell lymphoma is a type of non?Hodgkin lymphoma. Neoplastic lymphocytes are positive for CD4, CD56, and CD20, a specific B?cell marker. CD20 positive NK/T?cell lymphoma is rare, with only nine reported cases. This paper reports a case of nasal?type NK/T?cell lymphoma with CD20 positivity in a 47?year?old woman. The patient presented with bilateral nasal congestion and bloody nasal cavity secretions for 2 months. Computed tomography revealed thickening of the nasal mucosa and posterior wall of the nasopharyngeal crest, and the left and right cervical lymph nodes were enlarged. On histopathology, the lesion was composed of medium?sized atypical lymphoid cells and vascular infringement. Immunohistochemical staining showed that the tumor cells were positive for CD20, CD3, CD56, and Epstein–Barr virus (EBV)?encoded RNA in situ hybridization. The patient was treated with radiotherapy for 2 months and is currently well.
Hemophagocytic lymphohistiocytosis following enteric fever: A rare autopsy case report
(Wolters Kluwer – Medknow, 2024-06) Fernandes, Gwendolyn; Mhashete, Pooja; Patwardhan, Pranav Pramod
Hemophagocytic lymphohistiocytosis (HLH) is a severe and frequently underdiagnosed disorder of systemic immune dysregulation resulting in hypercytokinemia and histologically evident hemophagocytosis, We report a case of a 34?year?old man who presented with breathlessness, generalized weakness, and fever of unknown origin with pancytopenia. Clinically the patient was admitted for febrile illness, and treated symptomatically but his general condition worsened leading to death within 21 hours of admission. A complete autopsy was performed. The deceased had a significant past history of repeated episodes of fever, weight loss, and axillary lymphadenopathy over a period of 8 months with multiple hospital admissions. He was also diagnosed with enteric fever (Widal test and Typhi IgM positive) at the start of these episodes. Hemogram during this period revealed persistent pancytopenia. Serum ferritin, serum triglycerides, and liver function tests were consistently deranged. Investigations for the etiology of fever and blood cultures were negative while the bone marrow aspirate revealed a normocellular marrow. CT abdomen?pelvis showed mild hepatomegaly with enlarged retroperitoneal lymph nodes. Infective endocarditis, lymphoma, and bronchopneumonia were being considered the clinical diagnoses. The significant autopsy findings were hepatosplenomegaly with retroperitoneal lymphadenopathy and multiple gastric ulcers. On microscopy, the liver, spleen, bone marrow, and lymph nodes showed characteristic hemophagocytosis. Post?mortem histopathological examination clinched the diagnosis of HLH and fulfilled six out of eight diagnostic criteria of the HLH?2004 protocol. We discuss the clinical course and diagnosis of this unique case and strive to create awareness about secondary HLH induced by common diseases, such as enteric fever.
Endocrine mucin-producing sweat gland carcinoma of the eyelid – A diagnostic challenge
(Wolters Kluwer – Medknow, 2024-06) Bhanvadia, Viral M.; Kathiara, Ravija; Shah, Ami; Asari, Wilhemina
Skin adnexal or sweat gland neoplasms are rare adnexal tumors that pose a diagnostic challenge for both ophthalmologists and pathologists. Endocrine mucin?producing sweat gland carcinoma (EMPSGC) is an uncommon low grade carcinoma of eccrine ducts with a predilection to occur in the periocular region in the elderly female. We present a rare case of 65?year?old healthy male who presented with a lobulated mass in the left eye lower lid, clinically suspected as sebaceous gland carcinoma, diagnosed as endocrine mucin?producing sweat gland carcinoma histopathologically.
Bilateral adrenal cryptococcosis causing adrenal insufficiency in an immunocompetent patient
(Wolters Kluwer – Medknow, 2024-06) Kaur, Ramneek; Mittal, Naveen; Soni, Ankita; Kaur, Harpreet
Cryptococcosis usually occurs in immunocompromised patients and presents as meningitis and lung disease. Adrenal gland involvement may be observed, yet primary adrenal insufficiency by cryptococcal infection is infrequent. We present a case of a middle?aged immunocompetent man with primary adrenal insufficiency and bilateral adrenal lesions, splenomegaly, and miliary mottling in the lungs on imaging. No evidence of meningitis was witnessed. The clinico?radiological findings led toward the differential diagnosis of disseminated tuberculosis or fungal infection. Detection of cryptococcus organism was done on fine?needle aspiration cytology and biopsy on periodic acid?Schiff stain and Gomori`s methenamine silver stain. Thus, it is recommended to keep the possibility of cryptococcosis in mind while dealing with instances that have a tuberculosis?like clinico?radiological presentation. The detection of the causal organism on Fine needle aspiration (FNA)/biopsy examination may be useful in confirming the diagnosis and determining the appropriate medical treatment.
Glucose-6-phosphate dehydrogenase deficiency with coinherited Gaucher disease: A rare association
(Wolters Kluwer – Medknow, 2024-06) Parakh, Nupur; Sharma, Kusha; Sharma, Sunita; Chatterjee, Priti; Singh, Varinder
Anemia coexisting with Gaucher disease (GD) is often associated with non?hemolytic processes. Few cases of GD with autoimmune hemolytic anemia have been reported. However, literature on GD with concomitant nonimmune hemolytic anemia is scarce. A 1?year 6?month?old male child presented in 2018 with complaints of palpable mass in left upper abdomen, fever, cough, and vomiting. On examination, he had pallor, hepatosplenomegaly of 2 cm and 8 cm below costal margin, respectively. A clinical diagnosis of hemolytic anemia was suspected. Complete blood count revealed Hb???6.7 g/dL, TLC???8.9 × 103/?L, platelet count???180 × 103/?L. Peripheral smear showed predominantly microcytic hypochromic anemia with moderate degree of anisocytosis, many nucleated red blood cells, few schistocytes, polychromatophils and corrected reticulocyte count 7.89%. S. Bilirubin was 1.1 mg/dL. Hb high?performance liquid chromatography (HPLC) of the child and his parents was within normal limit. Hematological work up revealed negative results for direct Coombs’ test, osmotic fragility test, and sickling test. Test for Glucose?6?phosphate dehydrogenase deficiency was positive (39 units/trillion RBC, normal 146??376). He was transfused intermittently and given steroids to manage his anemia. He was on regular follow up during which his blood counts revealed persistent anemia and thrombocytopenia. In view of this, bone marrow was performed to exclude myelofibrosis. Aspirate smears were cellular and showed normoblastic erythroid hyperplasia. Numerous large histiocytes with basophilic fibrillary cytoplasm exhibiting “crumpled tissue paper” appearance were seen. Similar findings were seen on bone marrow trephine biopsy. Genetic testing revealed pathogenic variations in the GBA gene. Beta glucosidase enzyme levels were low while chitotriosidase was raised (1109.19 nmol/hr/mL). A final diagnosis of G6PD with GD was made. The present study shows rare association of GD with Glucose?6?phosphate dehydrogenase deficiency.
Adult extrarenal teratoid Wilms’ tumor: A case report and review of literature
(Wolters Kluwer – Medknow, 2024-06) Liao, Linhong; Cheng, Hui
A 19?year?old woman presented with painless lower abdominal discomfort and a cystic?solid mass measuring 15.9 cm on the right ovary. She subsequently underwent laparoscopic right ovarian cystectomy. Microscopic examination of the mass showed the typical morphological features of Wilms’ tumor and the predominance of teratoid elements constituting more than 50% of the tumor. To date, few cases of extrarenal teratoid Wilms’ tumor (TWTs) in adults have been reported in the literature. The case presented in the present is the third reported case of adult extrarenal TWT occurring in ovary.
Case of angioimmunoblastic T-cell lymphoma presenting as peripheral and bone marrow plasmacytosis: A diagnostic conundrum
(Wolters Kluwer – Medknow, 2024-06) Gupta, Deepika; Jaine, Nagarjun S.; Bairwa, Sandeep K.; Thirunavukkarasu, Balamurugan; Vishwajeet, Vikarn; Purohit, Abhishek H. L.
Angioimmunoblastic T?cell lymphoma (AITL), a subtype of peripheral T?cell lymphoma (PTCL), is associated with unique clinical, morphological, and immunohistochemical features. The peripheral circulation might show presence of an occasional reactive plasma cell but significant plasmacytosis masquerading as plasma cell leukemia is rare. We report a case of AITL in a 42?year?old male, who presented with two?month history of generalized lymphadenopathy. On investigations, he had hypergammaglobulinemia and plasmacytosis in the peripheral blood and bone marrow masquerading as plasma cell leukemia. Immunohistochemistry and serum protein electrophoresis revealed polyclonal nature of plasma cells. Diagnosis of AITL was made on cervical lymph node biopsy. This case highlights the diagnostic challenge faced due to heterogeneity in the clinical presentation and pathological findings and to alert the clinician so that timely accurate diagnosis can be made to initiate the treatment.

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