Papillary cystic acinic cell carcinoma: report of a rare lesion with unusual presentation

Introduction: Acinic cell carcinoma is an uncommon low grade tumour of the salivary glands that constitutes 2.5 to 4% of parotid gland tumours. Acinic cell carcinoma -Papillary cystic variant (ACC-PCV) is histologically composed of tumor with papillary and cystic growth patterns, with varying proportions of one or more cell types. It has been conferred significance because it has a poorer prognosis and is reported to be universally fatal in ten years. Case Report: We present a case of ACC-PCV in a sixteen year old male with unusual unicystic gross appearance, benign cytological picture and characteristic histopathological features .Cystic areas with papillary projection of surrounding cells showing characteristic tombstone or hobnail arrangements were seen. Discussion: The histogenesis and myriad architectural and cellular variations of ACC-PCV have been discussed along with its variegated cytomorphology which may lead to pitfalls in cytodiagnosis. The tumor may pose difficulty in histodiagnosis due to its resemblance to papillary carcinoma of the thyroi

Meningeal osteochondroma simulating meningioma with metaplastic change: a rare golf-ball-like lesion of non-meningothelial mesenchymal origin

Non-meningothelial mesenchymal tumors of the central nervous system (CNS), including those originating from the meninges, histologically correspond to tumors of soft tissue or bone. These individual entities arising from the meninges are rare, and probably have their origin in the multipotent primitive mesenchymal stem cells of the dura. Though it is a common bone tumor, the meningeal origin of osteochondroma has only very rarely been reported. We describe a case of a 35-year-old female with a well-demarcated, golf-ball-like osteochondroma of meningeal origin which was enucleated en bloc on craniotomy. Such a lesion can resemble a meningioma that exhibits metaplastic (osseous) change on imaging. However, provided that there is clinico-radiological awareness of such tumors, magnetic resonance imaging (MRI) can guide the way to this rare differential diagnosis, as it reflects the pathologic appearance of osteochondroma and allows the thickness of the cartilage cap to be estimated in order to check for rare malignant change. Complete excision along with the cartilage cap usually offers a favorable prognosis without recurrence

Role of endoscopic ultrasound-guided fine-needle aspiration in adrenal lesions: analysis of 32 patients

Objective: Endoscopic ultrasound-guided fine-needle aspiration cytology (EUS-FNAC) is a precise and safe technique that provides both radiological and pathological diagnosis with a better diagnostic yield and minimal adverse events. EUS-FNAC led to the remarkable increase in the detection rate of incidentaloma found during radiologic staging or follow-up in various malignancy or unrelated conditions. Aims: We did this preliminary study with an aim to evaluate the role of EUS-FNA in diagnosing and classifying adrenal lesions, clinical impact, and compare the outcome with the previously published literature. Materials and Methods: We included 32 consecutive cases (both retrospective and prospective) of EUS-guided adrenal aspirate performed over a period of 3.3 years. The indications for the aspirate in decreasing order were metastasis (most common carcinoma gall bladder) > primary adrenal mass > disseminated tuberculosis > pyrexia of unknown origin. On EUS, 28 cases revealed space occupying lesion or mass (two cases bilateral) and four cases revealed diffuse enlargement (two cases bilateral) with a mean size of 21 mm. Results: The cytology reports were benign adrenal aspirate (43.8%), metastatic adenocarcinoma (15.6%), histoplasmosis (9.4%), tuberculosis (9.4%), round cell tumor (6.2%), adrenocortical carcinoma (3.1%), and descriptive (3.1%). Three cases (9.4%) yielded inadequate sample. The TNM staging was altered in 22.23% of the cases by result of adrenal aspirate. Conclusions: EUS-FNA of the adrenal gland is a safe, quick, and sensitive and real-time diagnostic technique, which requires an integrated approach of clinician, endoscopist, and cytopathologist for high precision in diagnosis. Although the role of EUS-FNA for right adrenal is not much described, we found adequate sample yield in all the four patients that underwent the procedure

Massive Skull Metastasis From Follicular Thyroid Carcinoma − How Ignorance Can Harm Your Health

We report a 70 years old female, who presented with huge swellings over the left forehead, left clavicular region, anterior neck, occipital region and the right side of the scalp. The first swelling appeared 8 years back. She had deranged thyroid function tests and highly raised serum thyroglobulin levels. Her T3 level was 300.75 ng/dl (normal range: 40–181 ng/dl); T4 level was 6.7 µg/dl (normal range: 5–10.7 µg/dl) and thyroid stimulating hormone (TSH) level was 0.09 µIU/ml (normal range: 0.5–8.9 µIU/ml). Her serum thyroglobulin level was 30,000 ng/ml (normal range: 0.73–84 ng/ml). We have reported this case due to the unusual presentation of the patient with massive metastatic lesions from a primary thyroid cancer with highly raised serum thyroglobulin levels. Metastatic tumors to the skull are most often from breast, lung and prostate malignancies. In thyroid cancer, Nagamine et al. reported skull metastasis in only 2.5% of the cases. Along with radioactive iodine therapy, curative resection of solitary bone metastasis, wherever possible, is associated with improved survival, especially in younger patients of metastatic thyroid cancer. Only the light of knowledge and health education can dispel the darkness of ignorance. This rare case report highlights the importance of educating the masses, especially the people living in villages, so that it does not take 8 years, as in our case, to present oneself to a tertiary health care facility

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

To determine the molecular etiology of disease in 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease.Clinical information and neuroimaging were reviewed. Genome sequencing was performed on affected individuals and biological parents.All affected individuals presented with muscle weakness and difficulty walking. In one family, both children had neonatal respiratory distress while the other family had 2 children with episodic deteriorations. In each family, muscle biopsy demonstrated ragged red fibers. MRI was suggestive of a mitochondrial leukoencephalopathy, with extensive deep cerebral white matter T2 hyperintense signal and selective involvement of the middle blade of the corpus callosum. Through genome sequencing, homozygous missense variants were identified in the affected individuals of each family. The variants detected (p.Arg14Leu and p.Thr151Lys) are absent from population databases and predicted to be damaging by in silico prediction tools. Following the genetic diagnosis, nerve conduction studies were performed and demonstrated a decremental response to repetitive nerve stimulation, confirming the diagnosis of myasthenia. Treatment with pyridostigmine was started in one family with favorable response. encodes a widely expressed protein that controls the flux of glucose into the hexosamine-biosynthesis pathway that produces precursors for glycosylation of proteins. variants and defects in other enzymes of this pathway have previously been associated with congenital myasthenia. These findings identify leukoencephalopathy as a previously unrecognized phenotype in -related disease and suggest that mitochondrial dysfunction could contribute to this disorder

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of ?-dystroglycan

The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders. A new pathomechanism has recently been identified in a group of these disorders in which known or putative glycosyltransferases are defective. Common to all these conditions is the hypoglycosylation of {alpha}-dystroglycan. Fukuyama CMD, muscle–eye–brain disease and Walker–Warburg syndrome, each associated with eye abnormalities and neuronal migration defects, result from mutations in fukutin, POMGnT1 and POMT1, respectively, while mutations in the fukutin-related protein (FKRP) gene cause congenital muscular dystrophy 1C, typically lacking brain involvement. Another putative glycosyltransferase, Large, is mutated in the myodystrophy mouse. The human homologue of this gene is therefore a strong candidate for involvement in novel forms of muscular dystrophy. We studied 36 patients with muscular dystrophy and either mental retardation, structural brain changes or abnormal {alpha}-dystroglycan immunolabelling, unlinked to any reported CMD loci. Linkage analysis in seven informative families excluded involvement of LARGE but sequencing of this gene in the remaining 29 families identified one patient with a G1525A (Glu509Lys) missense mutation and a 1 bp insertion, 1999insT. This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI. Her skeletal muscle biopsy showed reduced immunolabelling of {alpha}-dystroglycan. Immunoblotting with an antibody to a glycosylated epitope demonstrated a reduced molecular weight form of {alpha}-dystroglycan that retained some laminin binding activity. This is the first description of mutations in the human LARGE gene and we propose to name this new disorder MDC1D