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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.
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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.
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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
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Mucoepidermoid carcinoma (MEC) is most common malignancy of minor salivary glands in adults. Pulmonary MEC is extremely uncommon comprising of only 0.1%–0.2% of the primary lung malignancies and <1% of primary bronchial tumors. It is even rarer in children and literature limited to few case reports only. Here we present a case report of a 9-year-old boy diagnosed with primary MEC of trachea along with review of the literature. A 9-year-old male child presented with complaint of dry cough for two years which was later associated with shortness of breath after one year. Bronchoscopic examination revealed a growth arising from right lateral wall of carina occluding 50% of the lumen and detailed histopathological examination revealed it to be a MEC of the trachea. Patient underwent local excision of the tumor with primary anastomosis. In view of positive margins adjuvant radiotherapy of 60 Gy in 30 fractions were given to the tumor bed. Patient tolerated the treatment well and is disease free at 6 months follow-up. Experience with MEC of the trachea in children is limited and optimal treatment protocols have not been defined, with current treatment mainly extrapolated from MEC of the salivary glands.
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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.
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Background@#This study evaluated the outcomes of patients with refractory/relapsed Hodgkin lymphoma (RRHL) treated with a bendamustine-based regimen in combination with ifosfamide, etoposide, and vinorelbine (VIBE). @*Methods@#Consecutive RRHL patients who were treated with the VIBE regimen were identified and studied for clinicopathologic characteristics, response to VIBE regimen, event-free survival (EFS), and feasibility of an autologous stem-cell transplant (autoSCT). @*Results@#In total, 24 patients received the VIBE regimen, and a median of 3 cycles were administered. In this cohort, 80% of the patients had received ≥2 prior lines of therapy. The overall and complete response rates with VIBE were 79% and 42%, respectively. After a median follow-up (following VIBE regimen) of 14 months (range, 3‒76), the 3-year EFS and OS were 46% and 74%, respectively. Of the eligible patients, 92% underwent successful AutoSCT. The mean CD34+ cell count in the autograft was 5.5×106/kg (SD 2.07). Neutropenia was the commonest hematologic toxicity and it was observed in 42% of the patients. However, only 9% of the patients developed grade III/IV febrile neutropenia. Chemotherapy-induced nausea and vomiting were the second most common grade III/IV toxicities in our cohort of patients. @*Conclusion@#In this retrospective analysis, the combination regimen, VIBE, has shown good efficacy in heavily pre-treated patients with RRHL without compromising stem cell collection. These encouraging results provide a rationale for further development of this regimen.
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Background@#This study evaluated the outcomes of patients with refractory/relapsed Hodgkin lymphoma (RRHL) treated with a bendamustine-based regimen in combination with ifosfamide, etoposide, and vinorelbine (VIBE). @*Methods@#Consecutive RRHL patients who were treated with the VIBE regimen were identified and studied for clinicopathologic characteristics, response to VIBE regimen, event-free survival (EFS), and feasibility of an autologous stem-cell transplant (autoSCT). @*Results@#In total, 24 patients received the VIBE regimen, and a median of 3 cycles were administered. In this cohort, 80% of the patients had received ≥2 prior lines of therapy. The overall and complete response rates with VIBE were 79% and 42%, respectively. After a median follow-up (following VIBE regimen) of 14 months (range, 3‒76), the 3-year EFS and OS were 46% and 74%, respectively. Of the eligible patients, 92% underwent successful AutoSCT. The mean CD34+ cell count in the autograft was 5.5×106/kg (SD 2.07). Neutropenia was the commonest hematologic toxicity and it was observed in 42% of the patients. However, only 9% of the patients developed grade III/IV febrile neutropenia. Chemotherapy-induced nausea and vomiting were the second most common grade III/IV toxicities in our cohort of patients. @*Conclusion@#In this retrospective analysis, the combination regimen, VIBE, has shown good efficacy in heavily pre-treated patients with RRHL without compromising stem cell collection. These encouraging results provide a rationale for further development of this regimen.
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Background@#Data on the prevalence of programmed death-ligand 1 (PD-L1) expression and tumor-infiltrating lymphocytes (TILs) in non–small cell lung cancer (NSCLC) and their clinical significance in Indian patients are limited. @*Methods@#Newly diagnosed NSCLC cases (adenocarcinoma or squamous cell carcinoma [SqCC] histology) were included in the present study. The TILs were evaluated based on morphology on hematoxylin and eosin–stained slides. PD-L1 expression in tumors was assessed using immunohistochemistry with rabbit monoclonal antibody (SP263) on the Ventana automated immunostainer. Tumors with PD-L1 expression > 50% on tumor cells were considered PD-L1–positive. Tumors in which TILs occupy > 25% of stroma were considered to have high TILs. The association of PD-L1 expression and TILs with various clinical parameters including overall survival (OS) was investigated. @*Results@#The present study included 128 cases of NSCLC (67 adenocarcinoma, 61 SqCC). PD-L1 positivity was observed in 17.2% of the patients with NSCLC. Baseline characteristics of PD-L1–positive subjects were similar to PD-L1–negative subjects except for a higher prevalence of liver metastasis (18.2% vs. 2.8%; p = .018) and a higher probability of diagnosis from extrapulmonary biopsies. High TILs were observed in 26.6% of the subjects. However, PD-L1 expression and high TIL did not affect OS. @*Conclusions@#PD-L1 positivity and high TILs were observed in 20% and 25% of the patients with NSCLC, respectively, however, neither were predictors of survival in SqCC.
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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.
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Humans , Male , Female , Paraquat/poisoning , Lung Injury/pathology , Lung/pathology , AutopsyABSTRACT
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.
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Humans , Male , Aged , Peritoneal Neoplasms , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/pathology , Ascites , Autopsy , Genes, myc , Cell BiologyABSTRACT
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.
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Humans , Female , Pregnancy , Adult , Aortopulmonary Septal Defect , Heart Defects, Congenital , Hypertension, Pulmonary , Autopsy , Fatal Outcome , Heart FailureABSTRACT
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.
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Humans , Male , Adult , Lymphoma, Large-Cell, Anaplastic , Femoral Fractures/complications , Anaplastic Lymphoma Kinase , Prostheses and ImplantsABSTRACT
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.
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Pulmonary blastoma (PB) is a rare thoracic malignancy and preoperative diagnosis is challenging. A young man presented with dyspnea and chest pain for 3–4 months and chest-computed tomography (CT) revealed large mass in the left lung upper lobe and pleural effusion. Repeated CT-guided fine-needle aspiration cytology from the lesion and pleural fluid aspiration was negative for malignancy. F-18-fluorodeoxyglucose positron emission tomography-computed tomography (FDG PET-CT) revealed heterogeneous tracer avidity in left lung mass with areas of necrosis. Real-time PET-CT-guided biopsy from metabolically active component of the lesion revealed biphasic PB on histopathology.
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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.
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Humans , Female , Child, Preschool , Bone Neoplasms/pathology , Fibroma, Desmoplastic/pathology , MandibleABSTRACT
We present a case of papillary thyroid cancer (post-thyroidectomy status) on regular treatment with suppressive Levothyroxine therapy. On follow-up at 6 months after radioactive iodine ablation for remnant thyroid tissue, her thyroglobulin, and anti-thyroglobulin levels were 0.06 ng/ml and 670 IU/ml, respectively. Low-dose whole-body I-131 scan was negative. To look for the cause of isolated increased anti-thyroglobulin level, a whole-body ¹â¸F-FDG PET/CT was done which revealed multiple FDG-avid lytic skeletal lesions suggestive of metastases. For confirmation of diagnosis, ¹â¸F-FDG PET/CT-guided metabolic biopsy was done, which revealed Langerhans' cell histiocytosis on histopathological examination.
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We present a case of papillary thyroid cancer (post-thyroidectomy status) on regular treatment with suppressive Levothyroxine therapy. On follow-up at 6 months after radioactive iodine ablation for remnant thyroid tissue, her thyroglobulin, and anti-thyroglobulin levels were 0.06 ng/ml and 670 IU/ml, respectively. Low-dose whole-body I-131 scan was negative. To look for the cause of isolated increased anti-thyroglobulin level, a whole-body ¹⁸F-FDG PET/CT was done which revealed multiple FDG-avid lytic skeletal lesions suggestive of metastases. For confirmation of diagnosis, ¹⁸F-FDG PET/CT-guided metabolic biopsy was done, which revealed Langerhans' cell histiocytosis on histopathological examination.
Subject(s)
Biopsy , Diagnosis , Follow-Up Studies , Histiocytosis , Iodine , Neoplasm Metastasis , Positron Emission Tomography Computed Tomography , Thyroglobulin , Thyroid Gland , Thyroid Neoplasms , ThyroxineABSTRACT
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.