Fibro-Osseus Pseudotumor of the Digit: A Case Report and Review of Literature.

Introduction: Bony subungual growths arising on the digital tip are uncommon. Among these, subungual exostosis is a common cause. Case Presentation: We describe a 35-year-old-male patient with a rare occurrence of a fibro-osseus pseudotumor of the digit. It presents with reactive intramembranous ossification, with no continuity with the distal phalanx, helping differentiate it from a subungual exostosis. The patient presented with an asymptomatic subungual growth, lifting up the nail plate distally causing onycholysis. The characteristic clinical, radiological, and histopathological features of the case are described, which helped confirm the diagnosis. Conclusion: Cases with fibro-osseus pseudotumor of the digit reported in literature are reviewed comprehensively. The factors helping differentiate this from the other bony tumors affecting the distal phalanx, including subungual exostosis, myositis ossificans, and osteosarcoma are also highlighted.

Cancer Stem Cell Markers - CD133 and CD44 - in Paediatric Solid Tumours: A Study of Immunophenotypic Expression and Correlation with Clinicopathological Parameters.

Paediatric solid tumours account for about 30% of all the paediatric malignancies. They differ from adult tumours in various aspects like incidence, etiopathogenesis, biology, response rate and outcome. Immunohistochemical markers such as CD133, CD44, CD24, CD90, CD34, CD117, CD20 and ALDH 1 (aldehyde dehydrogenase-1) have been proposed to detect cancer stem cells in tumours. CD133 is a marker of tumour initiating cells in many human cancers and therefore, it may be possible to develop future therapies by targeting cancer stem cells via this marker. CD44 is a transmembrane glycoprotein also known as homing cell adhesion molecule. It is a multifunctional cell-adhesion molecule and plays an important role in cell-cell interaction, lymphocyte homing, tumour progression and metastasis. In the present study, we assessed the expression of CD133 and CD44 in paediatric solid tumours and correlated their expression with clinico-pathological parameters in paediatric solid tumours. This study was a cross-sectional observational study conducted in the department of pathology at a tertiary care centre. All the histologically diagnosed paediatric solid tumours for a period of one year and four months were retrieved from the archives. The cases were reviewed and included in the study after obtaining informed consent. Immunohistochemistry using the monoclonal antibodies for CD133 and CD44 was performed in the representative tissue sections of all the cases. Immuno-scores were assessed, and the results were compared using Pearson's chi-square test. The present study included 50 cases of paediatric solid tumours. The majority (34%) of the patients were in the age group of less than 5 years, with male preponderance (M:F = 2.3:1). The tumours included were Wilms tumour, yolk sac tumour, rhabdomyosarcoma, lymphoma, neuroblastoma, hepatoblastoma, gastrointestinal stromal tumour (GIST), medulloblastomas, pilocytic astrocytomas, ependymomas and glioblastoma. On immunohistochemical analysis, high expression of CD133 and CD44 was found. A significant association between the expression of CD133 and various tumour groups was observed (p = 0.004). However, CD44 showed variable expression in different tumour groups. Both CD133 and CD44 identified cancer stem cell in paediatric solid tumours. A further validation is warranted to investigate their potential role in therapy and prognosis.

A study of epithelial-mesenchymal transition immunohistochemical markers in primary oral squamous cell carcinoma.

OBJECTIVE: To analyze markers of epithelial-mesenchymal transition (EMT) in oral squamous cell carcinoma (SCC) using E-cadherin, epithelial membrane antigen (EMA), vimentin, and smooth muscle actin (SMA), and their association with tumor metastasis and grade. STUDY DESIGN: This was a retrospective study, which included 45 diagnosed cases of primary oral SCC with known lymph node status, taken from the archives of the Department of Pathology along with their clinical profile. Histomorphologic evaluation and immunohistochemical (IHC) analysis for E-cadherin, EMA, vimentin, and SMA were performed. IHC expression of these markers was compared with tumor differentiation as well as lymph node metastasis. RESULTS: We observed that reduced E-cadherin expression and positive expression of SMA were significantly higher in tumors having lymph node metastasis and loss of tumor differentiation, respectively. Reduced EMA expression was associated with the presence of lymph node metastasis but not with the histologic differentiation. Vimentin positivity did not show any correlation with lymph node metastasis or histologic differentiation. CONCLUSIONS: This study emphasizes the importance of EMT in the pathogenesis of oral SCC. The use of biomarkers like E-cadherin, EMA, and SMA might be a valuable tool for predicting patient outcomes and therapy.

ALK+ Anaplastic large cell lymphoma with extensive cardiac involvement: A rare case report and review of the literature.

Cardiac lymphoma is a rare entity. In this setting, the secondary involvement of the heart is far more frequent than the primary cardiac lymphoma. Herein, we present an autopsy case of a disseminated anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma with a dominant mediastinal involvement. Extensive cardiac infiltration with the near replacement of the myocardial wall by the neoplastic cells was observed. A total of nine isolated case reports of anaplastic large cell lymphoma with cardiac involvement were found in the English-language literature, and a widespread cardiac and thymic infiltration by the systemic ALK-positive anaplastic large cell lymphoma has not been documented. An incidental regenerative nodule was also identified in the liver. The patient died of pulmonary thromboembolism and cardiac arrest.

Adenocarcinoma of the colon and urinary bladder: A fortuitous or an embryological phenomenon?

Primary adenocarcinoma of the urinary bladder is a rare malignancy with a frequency of less than 2% of all urothelial malignancies. Colonic adenocarcinoma has a much higher prevalence and its infiltration/metastasis in the urinary bladder is a pertinent differential of primary adenocarcinoma of the urinary bladder. However, the distinction of infiltration by colonic adenocarcinoma from synchronous adenocarcinoma in the bladder and colon is not always easy. Here, we report a 42-year-old male, who initially presented with bladder symptoms and subsequently found to have growth in both bladder and colon. A diagnosis of adenocarcinoma was made from the biopsies from both bladder and colon. Further attempts to differentiate synchronous occurrence or secondary involvement from an adjacent organ was made by radiology, and by an immunohistochemistry panel. The loss of MLH1 and PMS2 coupled with histomorphology and radiology helped in the diagnosis of primary colonic adenocarcinoma infiltrating the urinary bladder.

Leiomyosarcoma in a cervical myelomeningocele: a rare complication in a neglected case.

BACKGROUND AND IMPORTANCE: Asymptomatic myelomeningoceles are usually more of cosmetic deformities and left without evaluation and untreated, amongst low socio-economic strata. Such midline swellings, if left neglected may become the seat for malignancies, usually of squamous cell origin. CLINICAL PRESENTATION: The authors report a case of an 18-year-old male patient who developed leiomyosarcoma within chronically neglected cervical myelomeningocele. CONCLUSION: A non-healing ulcer of any aetiology is a bed for carcinogenesis. Neglected myelomeningoceles, for any reason, may convert a benign entity to a malignant pathology. To our best knowledge, this is the first case of a leiomyosarcoma arising de novo from myelomeningocele.

ALK+ Anaplastic large cell lymphoma with extensive cardiac involvement: A rare case report and review of the literature

Cardiac lymphoma is a rare entity. In this setting, the secondary involvement of the heart is far more frequent than the primary cardiac lymphoma. Herein, we present an autopsy case of a disseminated anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma with a dominant mediastinal involvement. Extensive cardiac infiltration with the near replacement of the myocardial wall by the neoplastic cells was observed. A total of nine isolated case reports of anaplastic large cell lymphoma with cardiac involvement were found in the English-language literature, and a widespread cardiac and thymic infiltration by the systemic ALK-positive anaplastic large cell lymphoma has not been documented. An incidental regenerative nodule was also identified in the liver. The patient died of pulmonary thromboembolism and cardiac arrest.

Upper Urinary Tract Adenocarcinoma Arising in Tubular Adenoma-A Rare Entity: Report of 2 Cases and Review of Literature.

Tubular adenoma of the urinary tract is a recently recognized entity, and there is a paucity of clinicopathological information. We describe 2 rare cases of adenocarcinoma of upper urinary tract arising in the background of tubular adenoma with high-grade dysplasia. The first case was an extremely uncommon combination of multifocal tubular adenomas involving ureter and renal pelvis and adenocarcinoma of kidney in a patient with renal calculi. The second case was of adenocarcinoma of kidney arising from tubular adenoma of renal pelvis in the right moiety of horseshoe kidney. There was no microsatellite instability. These findings indicate, probably, an adenoma-carcinoma pathway is also followed in the urinary tract similar to the gastrointestinal tract. To the best of our knowledge, no such observations are reported in the English literature previously.

18F-FDG PET/CT detects Metastatic Renal Cell Carcinoma Masquerading as Primary Breast Malignancy.

We present the case of a 36-year-old woman who underwent 18F-FDG PET/CT with suspicion of a primary breast malignancy. However, PET/CT detected an occult renal cell carcinoma with metastases to the thyroid, breast, lungs and lymph nodes. Thyroid and breast metastases are atypical metastatic sites of renal cell carcinoma. Breast metastases from extra mammary tissue are extremely rare, more so from renal cell carcinoma. Histopathologic confirmation of the breast lesions is imperative to avoid unnecessary mastectomy and imaging can help in raising the suspicion of metastatic involvement versus primary breast malignancy.

A quintessential syndrome with a rare marvelling aetiology: Rosai-Dorfman disease presenting as Conus-Cauda syndrome.

A 19-year-old woman presented with a history of severe lower backache and asymmetric proximal lower limb weakness during the past 3 months. In addition, she also suffered from lower motor neuron-type bladder and bowel symptoms. On examination, paraparesis was noted. Further, sensory examination suggested patchy asymmetric sensory loss in both lower limbs with saddle anaesthesia and areflexia. A clinical diagnosis of Conus-Cauda syndrome was made and contrast-enhanced MRI of the lumbar and sacral spine was done, which confirmed the presence of a mass lesion within the spinal canal involving the cauda equina extending up to the sacral level. She underwent partial resection of the lesion following which the neurological deficits and lower backache resolved. Histopathological evaluation and immunohistochemical analyses uncovered Rosai-Dorfman disease. There was no evidence of disease elsewhere in the body. Since the patient improved significantly following surgery and exhibited no further neurological worsening, she remains under close follow-up.

Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child.

Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed in ATP6VOA2 gene. Clinical spectrum of ARCLII is highly heterogeneous and molecular analysis should be done to confirm the diagnosis.

Leiomyosarcoma of inferior vena cava with intracardiac extension presenting as Budd-Chiari syndrome: Report of a rare case.

Primary leiomyosarcoma of vascular origin is a rare malignant smooth muscle tumor. This report describes a case of primary leiomyosarcoma of the inferior vena cava (IVC) in a 52-year-old male who presented with complaints of abdominal pain, chest pain, and bilateral lower limb swelling for 4 months. Imaging of the chest and abdomen revealed a mass in the IVC extending into right atrium, heterogeneous enhancement of liver, hepatosplenomegaly, and ascites. Histopathological examination showed a malignant spindle cell tumor with cells arranged in fascicular and hemangiopericytomatous pattern. Immunohistochemistry for smooth muscle actin and desmin confirmed smooth muscle origin of the tumor. Recognition of this tumor in this rare location and Budd-Chiari syndrome-like presentation is imperative for proper management of the patient.