Disseminated Nasal subtype Extranodal NK/T-cell lymphoma and its diagnostic difficulties in antemortem biopsies

ABSTRACT Extranodal NK/T- cell lymphoma (ENKTCL) is an aggressive lymphoma driven by Epstein-Barr virus (EBV) infection in genetically susceptible individuals. It was historically called a lethal midline granuloma. Due to the angio-destructive nature of ENKTCL, lymphoma cells are often accompanied and masked by necrosis and dense inflammation in the biopsy. Further, the biopsy may show vasculitis, which can mimic granulomatosis with polyangiitis. Due to these masquerades, ENKTCL is often misdiagnosed in the biopsy. Several biopsies may be required to establish the diagnosis. We describe the clinical course and autopsy findings of a young female who presented with a hard-palate ulcer. Antemortem biopsies failed to establish the diagnosis. The autopsy revealed an advanced nasal subtype of Extranodal NK/T-cell lymphoma with dissemination to the kidneys, adrenals, liver, spleen, and small intestine.

Autopsy findings of acute erythroid leukemia

ABSTRACT Acute erythroid leukemia (AEL) is an exceedingly uncommon but distinct hematological malignancy that shows neoplastic proliferation of erythroid precursors with maturation arrest and no significant myeloblasts. We describe an autopsy case of this rare entity in a 62-year-old man with co-morbidities. He underwent a bone marrow (BM) examination for pancytopenia during the first outpatient department visit, which revealed an increased number of erythroid precursors with dysmegakaryopoiesis suggesting the possibility of Myelodysplastic syndromes (MDS). Thereafter, his cytopenia got worsened, warranting blood and platelet transfusions. Four weeks later on the second BM examination, AEL was diagnosed based on morphology and immunophenotyping. Targeted resequencing for myeloid mutations revealed TP53 and DNMT3A mutations. He was initially managed along febrile neutropenia with the stepwise escalation of antibiotics. He developed hypoxia attributed to anemic heart failure. Subsequently, he had hypotension and respiratory fatigue pre-terminally and succumbed to his Illness. A complete autopsy showed infiltration of various organs by AEL and leukostasis. Besides, there was extramedullary hematopoiesis, arterionephrosclerosis, diabetic nephropathy (ISN-RPS class II), mixed dust pneumoconiosis, and pulmonary arteriopathy. The histomorphology of AEL was challenging, and the differential diagnoses were many. Thus, this case highlights the autopsy pathology of AEL, an uncommon entity with a strict definition, and its relevant differentials.

Langerhans cell sarcoma with BRAF?V600E mutation and hemophagocytosis: An autopsy report

Langerhans cell sarcoma (LCS) is a rare high-grade neoplasm of langerhans cell phenotype having unambiguous malignant cytological features. We report such a rare case in a 20-year-old man who presented with dyspnea and high-grade fever. On evaluation, he had generalized lymphadenopathy, hepatosplenomegaly, and a large anterior mediastinal mass. Fine needle aspiration from the mediastinal mass and bone marrow aspirate showed numerous atypical cells, many of which showed grooved nuclei. In addition, the bone marrow showed prominent hemophagocytosis. The patient had a stormy hospital stay and succumbed to the illness. The autopsy revealed a rare multisystem involvement by LCS involving the lymph nodes, liver, spleen, lungs, and intestine, which harbored a BRAFV600E mutation and was associated with hemophagocytosis

Primary Wilms tumor of the urinary bladder

ABSTRACT Wilms tumor (WT) can occur at various extrarenal sites; however, the urinary bladder as the primary site is occasional. A 4-year-old-female child presented with difficulty in micturition for the past month. The contrast-enhanced magnetic resonance imaging with magnetic resonance (MR) urography revealed a polypoidal, heterogeneous mass in the urinary bladder with no abnormality in the kidneys. Cystoscopy-guided biopsy was reported as an extrarenal Wilms tumor (ERWT) with triphasic components. Post-chemotherapy, a computed tomography scan revealed a residual tumor for which she underwent partial cystectomy. The diagnosis of ERWT was confirmed. She received adjuvant chemotherapy and remained well at the 9th month post completion of chemotherapy. The primary bladder WT must be considered in the differential of a small blue round cell tumor at an extrarenal site in the pediatric age group. The diagnosis is especially challenging in small biopsy material, although it has immense significance in management and prognosis.

De novo double-hit B-cell precursor leukemia/lymphoma - an unusual presentation as peritoneal lymphomatosis

Peritoneal lymphomatosis (PL) is a rare presentation of extranodal precursor leukemia/lymphoma. The presentation is often non-specific, leading to delayed diagnosis and treatment. In this case, though the preliminary diagnosis was established on ascitic fluid cytology, the disease progressed rapidly, leading to demise before initiating chemotherapy. Immunophenotyping and molecular studies, performed later, established a diagnosis of de novo B-cell precursor leukemia/lymphoma with MYC, BCL2 rearrangements (Double-hit lymphoma). MYC, BCL2 rearrangements are rarely reported in precursor B-lymphoma/leukemia which carry dismal prognosis. In this report, we illustrate autopsy findings of PL in an elderly gentleman who presented with ascites for evaluation.

Fatal outcome of congenital aortopulmonary window with patent ductus arteriosus complicating pregnancy

Aortopulmonary window (APW) is a rare congenital heart defect with abnormal communication between the ascending aorta and the pulmonary trunk with two separate semilunar valves. We present an autopsy case report wherein a young primigravida woman presented with progressive breathlessness and central cyanosis at 21 weeks of gestation. Echocardiography performed in the emergency room revealed elevated right-sided cardiac pressures suggestive of severe pulmonary hypertension; however, no structural cardiac defect was discernible. The patient succumbed to congestive cardiac failure and progressive hypoxia within 5 days of hospitalization. The autopsy revealed a Type I aortopulmonary window (2 cm) with patent ductus arteriosus. The lungs showed changes of severe pulmonary hypertension with superadded bronchopneumonia. This report underscores a rare presentation of APW, undiagnosed until pregnancy, leading to the Eisenmenger syndrome and death.

Systemic ALK-positive anaplastic large cell lymphoma involving implant site: a fortuitous association

Anaplastic lymphoma kinase (ALK) positive, anaplastic large cell lymphoma involving the non-mammary implant is an extremely rare presentation. Irrespective of the type or site, the implant-associated primary ALCL is morphologically and immunophenotypically similar to ALK-negative ALCLs. Herein, we present the case of a 42-year-old male who developed a lytic lesion after an implant for a right femur fracture. The lytic lesion biopsy revealed anaplastic large cell lymphoma with ALK protein expression. Imaging findings showed the widespread dissemination of disease all over the body, entrapping the implant too. ALCL involving the bone implant is a very unusual and rare presentation that needs to be documented.

Pulmonary histopathology in fatal paraquat poisoning

Paraquat is a potent herbicide widely used in the Indian agriculture industry. Human fatality due to paraquat poisoning is not uncommon in this country. The primary effect of paraquat is on the lungs, and the resultant pulmonary damage leads to the patient's demise. There is a high mortality rate in paraquat poisoning as the treatment is usually supportive with no known antidote. There are limited human studies that have observed the histopathological changes in lungs in paraquat poisoning. The authors have discussed the time-related histopathological changes in lungs in paraquat poisoning on autopsy subjects. The role of anticoagulants and fibrinolytic agents in the treatment of this poisoning has also been discussed.

Can Sentinel Lymph Node Biopsy Predict Various Levels of Echelon Nodes in Oral Cancers?

Abstract Introduction The efficacy of sentinel node biopsy in early stage oral cancer is well established. Its evolving role can be reinforced by further studies. Objective Analyzing the predictability of the levels of echelon nodes for various oral cavity tumor subsites on sentinel node biopsy. Methods A prospective study of 20 patients with stage I/II oral squamous cell carcinoma who underwent sentinel node biopsy-guided neck dissection between January 2017 and 2018 at our institute. The procedure included radiotracer injection, imaging (lymphoscintigraphy, single photon emission computed tomography-computed tomography), and gamma probe application. Sentinel node detection on imaging and gamma probe were compared. Results Out of 20 patients, 13 (65%) had carcinoma of the tongue, 6 (30%) had buccal mucosa carcinoma, and 1 (5%) had retromolar trigone carcinoma. Themean age of the patients was 52.3 years. A total of 13 (65%) patients were male, and 7 (35%) were female. The sentinel node identification rates with imaging and gamma probe were of 70% and 100% respectively. In tongue and retromolar trigone primaries, the most common first-echelon nodes in both modalities were levels IIA and IB respectively. For buccal mucosa primaries, first-echelon nodes were detected only with the gamma probe, which was level IB. On imaging, second-echelon nodes were detected only for tongue primaries, and had equivalent incidence of levels II, III, and IV. On the gamma probe, level IIA, followed by III, and IV for the tongue, and level IIA were the most common second-echelon nodes for the buccal mucosa. Third-echelon nodes were detected only with the gamma probe for tongue carcinoma at level IV. Conclusion The combined use of imaging and gamma probe provides the best results, with high identification rate and predictability of echelon levels.

Desmoplastic fibroma of the mandible: a rare gnathic bone tumor with a review of the literature

Desmoplastic fibroma (DF) is a rare bone tumor, which is known to involve mostly the gnathic bones. In this setting, the clinical presentation is usually represented by a bulging tumor of the face. Radiologically, the tumor is usually characterized by an expansile lytic bone lesion. The histopathology of the tumor shows a poorly circumscribed hypocellular lesion rich in collagen fibers with interspersed spindle cells having bland nuclear chromatin. Despite the lack of mitoses and nuclear pleomorphism, DF has an aggressive nature, presenting as a destructive growth causing entrapment of neuro-vascular bundles, sinusitis, or trismus. Some cases of DF show mutations in the adenomatous polyposis coli pathway shown by nuclear localization of the ß-catenin protein. Few reports showed an association with tuberous sclerosis, though most of these cases were sporadic. We discuss a rare case of desmoplastic fibroma involving the mandible, and a review of the literature of the DF cases involving the gnathic bones.

Utility of adenosine deaminase (ADA), PCR & thoracoscopy in differentiating tuberculous & non-tuberculous pleural effusion complicating chronic kidney disease.

Background & objectives: Pleural effusion is a common occurrence in patients with late-stage chronic kidney disease (CKD). In developing countries, many effusions remain undiagnosed after pleural fluid analysis (PFA) and patients are empirically treated with antitubercular therapy. The aim of this study was to evaluate the role of adenosine deaminase (ADA), nucleic acid amplification tests (NAAT) and medical thoracoscopy in distinguishing tubercular and non-tubercular aetiologies in exudative pleural effusions complicating CKD. Methods: Consecutive stage 4 and 5 CKD patients with pleural effusions underwent PFA including ADA and PCR [65 kDa gene; multiplex (IS6110, protein antigen b, MPB64)]. Patients with exudative pleural effusion undiagnosed after PFA underwent medical thoracoscopy. Results: All 107 patients underwent thoracocentesis with 45 and 62 patients diagnosed as transudative and exudative pleural effusions, respectively. Twenty six of the 62 patients underwent medical thoracoscopy. Tuberculous pleurisy was diagnosed in six while uraemic pleuritis was diagnosed in 20 subjects. The sensitivity and specificity of pleural fluid ADA, 65 kDa gene PCR, and multiplex PCR were 66.7 and 90 per cent, 100 and 50 per cent, and 100 and 100 per cent, respectively. Thoracoscopy was associated with five complications in three patients. Interpretation & conclusions: Uraemia remains the most common cause of pleural effusion in CKD even in high TB prevalence country. Multiplex PCR and thoracoscopy are useful investigations in the diagnostic work-up of pleural effusions complicating CKD while the sensitivity and/or specificity of ADA and 65 kDa gene PCR is poor.

Experience with treatment of pulmonary alveolar proteinosis from a tertiary care centre in north India.

Background. Pulmonary alveolar proteinosis (PAP) is a disorder characterised by accumulation of lipids and proteins in the alveoli, with the resultant symptoms ranging from indolent subclinical disease to progressive respiratory failure. Methods. We retrospectively studied five patients with PAP managed at our center between January 2007 and April 2010, with whole lung lavage (WLL) and/or subcutaneous granulocyte macrophage-colony stimulating factor (GM-CSF) therapy. Patients undergoing WLL under general anaesthesia were supplemented with three months of GM-CSF therapy. Pre- and post-lavage symptom assessment was performed with a 10-point, symptom-based visual analogue scale. Results. Their mean age was 37.6±7.0 years; there were four males. Diagnosis of PAP [idiopathic (n=3); secondary to Nocardia (n=1)] was established by surgical lung biopsy in four patients who presented with respiratory failure. Three patients with idiopathic PAP (n=3) were treated with a combination of GM-CSF and WLL; one patient with secondary PAP was treated with antibiotics alone. In another patient transbronchial lung biopsy was used to diagnose PAP and GM-CSF alone was administered. All patients were followed up for a median period of two years (range 0.5-3 years). Significant improvement was achieved in all the patients with therapeutic WLL and/or GM-CSF. Conclusions. Whole lung lavage appeared to be an effective and safe therapy in patients with PAP. Efficacy of simultaneous administration of GM-CSF and WLL in the treatment of PAP merits further study.

Blind transbronchial needle aspiration without an on-site cytopathologist: Experience of 473 procedures.

Background. Transbronchial needle aspiration (TBNA) is an established procedure for sampling the mediastinal lymph nodes. Data reported from India are limited on this routine procedure. We describe our experience of the efficacy, diagnostic accuracy and safety of TBNA. Method. We retrospectively reviewed all TBNAs done at our centre between 2006 and 2009. Under local anaesthesia, accessible lymph node stations were sampled thrice without fluoroscopy and without an on-site cytopathologist. Data are presented in a descriptive manner. Results. A total of 4513 diagnostic bronchoscopies were done, of which 473 (10.5%) underwent TBNA. There were 297 men (63%) and 176 women (37%) with a mean (SD) age of 46.2 (13.98) years. The most common clinical diagnoses were sarcoidosis (50.5%), lung cancer (26.8%), tuberculosis (8.7%) and others (14%). The overall efficacy of TBNA in sampling a mediastinal/hilar lymph node was 72%. The accuracy of TBNA in achieving a pathological diagnosis was 40.4%, whereas the diagnostic yield of a successful procedure was 56.8% (lymph nodes were successfully sampled in 193 of 340 procedures). The most common diagnoses on cytology were sarcoidosis and lung cancer. In patients with a clinical diagnosis of lung cancer, the diagnostic accuracy of TBNA was 46.5% (59 of 127), whereas in patients with sarcoidosis it was 38.1% (91 of 239). TBNA provided an additional diagnostic yield in 5.6% (12 of 215) of patients with sarcoidosis who also underwent transbronchial lung biopsy. There were no periprocedural complications. Conclusion. Blind TBNA is a safe and effective procedure that can be routinely done in the bronchoscopy suite.

Inflammatory pseudotumor of the omentum.

Inflammatory pseudotumor is an unusual quasineoplastic lesion, of uncertain natural history and etiopathogenesis, which consists of inflammatory cells and myofibroblastic spindle cells; and is usually found in children and young adults. Clinical manifestations and radiological feature of this rare entity, can be indistinguishable from a malignant sarcomatous or lymphoproliferative disorders. Here, a case of surgically proven inflammatory pseudotumor of the omentum in a child and its review of literature is presented. Conservative surgery is curative in most cases of inflammatory pseudotumors. Awareness of this lesion is essential for clinicians, radiologists and pathologists, as pre-operative recognition may spare the child from unnecessary radical surgery or harmful chemoradiotherapy.

Mucinous adenocarcinoma of the renal pelvis presenting as pyonephrosis: a case report.

Tumours of the renal pelvis are rare. We present a case of primary mucinous adenocarcinoma of the renal pelvis masquerading as pyonephrosis clinically and diagnosed on histopathologic examination. Patient presented with pyonephrosis of the left kidney due to a large staghorn calculus and was treated with tube nephrostomy followed by nephrectomy.