Extensive Giant Tuberous and Tendon Xanthomas in a 48-year-old Gentleman: A Case Report.

INTRODUCTION: Xanthomas are defined as benign lesions characterized by an accumulation of lipid-laden macrophages that develop in the cutis and subcutaneous tissue. Xanthomas are classified as eruptive, tuberous, tendinous, or planar depending on their location and clinical appearance. Co-existence of both tuberous and tendinous forms in an atypical large-sized pattern is a rarity and presented herewith. CASE PRESENTATION: A 48-year-old male patient presented with multiple large masses in his elbows, knees, Achilles tendons, feet, and hands. The largest swellings measured 12 cm × 10 cm in dimensions. The blood workup of the patient showed an elevated level of low-density lipoprotein cholesterol and was subsequently diagnosed with Type IIa familial hypercholesterolemia and multiple large co-existing tuberous and tendinous xanthomas which is a rare clinical presentation. Local surgical excision was performed to remove the symptomatic massive xanthomas from the elbows, knees, and feet. Histological analysis of the surgical specimens confirmed the clinical diagnosis of xanthomas. CONCLUSION: Tuberous and tendinous xanthomas can co-exist in the same patient, including atypical large-sized forms. Usually, patients with xanthomas have some underlying metabolic lipid derangement and a cardiology workup to detect future cardiac risk is warranted. Intervention at an early stage can prevent the formation of disfiguring xanthomas in patients with underlying lipid disorder. The case also highlights a multi-disciplinary approach to such rare clinical presentations.

Imprint Cytology for Intra-operative Assessment of Surgical Margins for Skeletal Tumours in COVID-19 Pandemic.

In the current COVID-19 pandemic, tremendous pressure is been exerted on the existing health infrastructure of many developing nations. Limb salvage surgeries in bone and soft tissue sarcomas cannot be delayed beyond a certain time-period and constitute an orthopaedic emergency in certain situations. Evaluation of intra-operative surgical margins forms an important step especially in cases with planned close margins or intercalary resections. Techniques such as imprint cytology can be preferred over frozen sections for evaluation of the surgical margins especially in COVID-19 positive patients. The advantages it offers such as completion of the procedure within the operation room complex, no generation of aerosols, and almost equal sensitivity and specificity when compared with frozen section method do warrant a modification of current surgical practice in the current health crisis especially in resource-constrained nations. Awareness and better communication regarding the same from the pathologist to the surgical team will go a long way in conserving resources and avoid unnecessary exposure to potentially infected aerosols.

Precursor T-lymphoblastic lymphoma: Speedy diagnosis in FNA and effusion cytology by morphology, immunochemistry, and flow cytometry.

BACKGROUND: Precursor T-lymphoblastic lymphoma (T-LBL) is a rare lymphoma presenting clinically in children and adolescents with a rapidly enlarging mediastinal mass, dyspnea, and cervical lymphadenopathy requiring quick diagnosis. The objective of the current study was to report on the spectrum of cytomorphology and flow cytometric immunophenotyping (FCI). METHODS: The clinical profile, cytomorphological features, FCI, and cell block immunocytochemistry (CB-ICC) of all cases of T-LBL diagnosed from 2011 through 2013 were reviewed. RESULTS: Fifteen cases of precursor T-LBL (10 fine-needle aspiration samples and 5 pleural/pericardial fluid samples) were evaluated. Smears demonstrated dispersed lymphoblasts, with a high nuclear:cytoplasmic ratio and scanty basophilic cytoplasm. Nuclei demonstrated notches, clefts, and indentations. The chromatin was condensed in small and intermediate-sized blasts and dispersed in larger blasts. Nucleoli were present only in the larger blasts. Hand mirror-shaped cells and mitoses were variable. With regard to immunophenotyping, flow cytometry demonstrated positivity for CD2 (15 of 15 cases), surface CD3 (14 of 15 cases), cytoplasmic CD3 (15 of 15 cases), terminal deoxynucleotidyl transferase (TdT) (8 of 15 cases), CD5 (13 of 15 cases), CD10 (7 of 15 cases), and human leukocyte antigen-D related (HLA-DR) (1 of 15 cases). Dual CD4/CD8 positivity was observed in all cases forming a tight cluster, which is consistent with the cortical T-LBL subtype. CB-ICC demonstrated a uniform CD3-positive/TdT-positive/CD20-negative phenotype. In 7 cases in which TdT was negative by flow cytometry, CB-ICC was positive. CONCLUSIONS: Combining cytomorphology and FCI enables the accurate and rapid diagnosis of T-LBL on fine-needle aspiration and effusion cytology specimens, thereby obviating the need for a biopsy.

Role of intraoperative pathology consultation in skeletal tumors and tumor-like lesions.

Early and accurate detection of bone tumors and their staging are important since some of them are highly malignant. Intraoperative pathological consultation in bone tumors and tumor-like conditions is quite complex; however, it allows improvement in prognosis and limb salvage. Present study was conducted on 52 patients who underwent surgical procedure after clinical and radiological diagnosis of bone tumors/tumor-like conditions. Fresh unfixed tissue was quickly inspected grossly, followed by preparation of imprint smears and frozen section which were evaluated by two pathologists separately and compared subsequently with reports of paraffin-embedded sections. Clinical reasons for intraoperative consultation were to make diagnosis in 65.4% of cases and to determine resection margin status in 21.1% while in 13.5% of cases, it was for both indications. Diagnostic yield of imprint smears was 87.8% (13 malignant, 22 benign, and 1 tumor-like) and of frozen section was 90.2% (16 malignant, 19 benign, and 2 nonneoplastic) while paraffin sections could diagnose specific tumors in 95.1% (18 malignant, 18 benign, and 3 nonneoplastic). Although frozen section had better sensitivity (88.2%), it had less specificity (94.7%) as compared to imprint smears (76.5% and 100%, resp.). Imprint cytology and frozen section together provide a quick, safe, and reliable intraoperative provisional tissue diagnosis in skeletal tumors and tumor-like conditions.

Optic nerve glioma: A great mimicker.

BACKGROUND: Arachnoid proliferation, although rare, is known to occur in association with optic gliomas. However, chondroid and chordoid metaplasia has not been reported previously. CASE DESCRIPTION: A 27-year-old male presented with progressive, painless loss of vision in right eye, associated with vomiting and headache for one and a half months. Computed tomography (CT) scan revealed a contrast enhancing mass arising from planum sphenoidale. Perioperative findings showed the tumor adherent to the right optic nerve and attached to basal dura and falx. A clinical impression of an intradural, optic nerve sheath meningioma was made. Histopathological examination revealed a glial tumor with adjacent areas displaying marked fibroblastic and arachnoid cell proliferation with chondroid as well as chordoid differentiation along with myxoid change and dense collagenisation. Reticulin stain, immunochemistry with glial fibrillary acid protein (GFAP), epithelial membrane antigen (EMA), and S-100 helped to arrive at the final diagnosis of optic glioma displaying exuberant arachnoid proliferation with cartilaginous metaplasia. CONCLUSION: We report a case of optic nerve glioma displaying extensive arachnoid proliferation, chordoid, and cartilaginous metaplasia, which mimicked chondrosarcoma or chordoid meningioma, posing a diagnostic dilemma. A clinical feedback, simple reticulin stain, and GFAP staining is of immense value in such cases to arrive at the correct diagnosis.

Schwannoma of the parotid gland: Diagnosis by fine-needle aspiration cytology.

In this brief report, we have described a rare case of schwannoma of the parotid gland in a young female who presented to us with a 3 cm diameter parotid swelling. The fine-needle aspiration cytology showed small fascicles, clusters and discrete spindle-shaped cells with long wavy nuclei. The cytological diagnosis of schwannoma of the parotid gland was offered and later confirmed by excision and histopathology.