SMARCB1 deficient sinonasal carcinoma: An emerging entity with a diagnostic challenge.

SMARCB1 deficient sinonasal carcinomas are rare neoplasms, classified under sinonasal undifferentiated carcinomas by the fourth edition of the World Health Organization (WHO) classification of head and neck tumors. It is characterized immunohistochemically by loss of SMARCB1(INI1) expression. We are reporting the case of a 63-year-old man who was evaluated for nasal stuffiness of 3 months duration in another hospital where a radiological evaluation showed a polypoidal soft tissue lesion in the right maxillary sinus extending to the right nasal cavity and spheno-ethmoidal sinus. He underwent excision biopsy which was reported as non- keratinizing nasopharyngeal carcinoma. He was referred to our center with residual disease in spheno-ethmoidal recess for which radiotherapy was given. After completion of radiotherapy, the primary site had no residual disease, but while on follow-up he developed left sided neck nodes within 4 months of completion of treatment. Excision of the lesion was done and histopathological and immunohistochemical analysis revealed it to be metastasis from SMARCB1 deficient sinonasal carcinoma and not nasopharyngeal carcinoma as diagnosed from the other center. This case is being reported to highlight the diagnostic challenge associated with this rare entity.

Intrathyroidal thymic carcinoma not so indolent a neoplasm?

ABSTRACT: Intrathyroidal thymic carcinoma (ITC) is a very rare malignant epithelial tumor of the thyroid gland with thymic epithelial differentiation. Here, we are reporting the case of an eighty-year-old man who at presentation had extrathyroidal spread to the larynx and metastasis to regional lymph nodes. Though the tumor had a relatively low-grade morphology, there were areas of high mitotic activity with areas of necrosis. The classically described ivory-white gross appearance of the tumor, histomorphology of thick bands dividing the tumor into lobules, squamous cell differentiation, tight whorls of cells resembling Hassall's corpuscle, and areas showing dense lymphocytic infiltration, together with an immunoprofile of CD5, Ckit, Tumor protein 63 (p63), and B-cell lymphoma 2 gene (bcl2) positivity, helped in diagnosing this rare entity. Though classically ITC is said to have a good prognosis, cases with spread to adjacent organs and lymph node metastasis may not have an indolent course.

Stage migration and treatment outcome in carcinoma tongue - A comparison of seventh and eighth AJCC pathological staging systems.

Background: The eighth edition of the American Joint Committee on Cancer (AJCC) for oral cancer has incorporated additional pathological features like depth of invasion (DOI) and extranodal extension (ENE) into T and N staging. The incorporation of these two factors will impact the staging and, hence, the treatment decisions. The aim of the study was to clinically validate the new staging system in predicting the outcome in patients treated for carcinoma oral tongue. The study also examined the correlation of pathological risk factors with survival. Methods: We studied 70 patients with squamous cell carcinoma of the oral tongue who underwent primary surgical treatment at a tertiary care center in the year 2012. All these patients were restaged pathologically according to the new AJCC eighth staging system. The 5-year overall survival (OS) and disease-free survival (DFS) were calculated using the Kaplan-Meier method. Akaike information criterion and concordance index were calculated between both staging systems to identify a better predictive model. Log-rank test and univariate Cox regression analysis were conducted to find out the significance of different pathological factors on outcome. Results: Incorporation of DOI and ENE resulted in 47.2% and 12.8% stage migration, respectively. DOI less than 5 mm was associated with a 5-year OS and DFS of 100% and 92.9%, respectively, compared to 88.7% and 85.1%, respectively, when the DOI was more than 5 mm. Presence of lymph node involvement, ENE, and perineural invasion (PNI) were associated with inferior survival. The eighth edition had lower Akaike information criterion and improved concordance index values compared with the seventh edition. Conclusion: The eighth edition of AJCC allows better risk stratification. Restaging of cases based on the eighth edition AJCC staging manual resulted in significant upstaging with difference in survival.

Differentiated thyroid carcinoma in children: A retrospective analysis of 125 pediatric cases from a single institution in India.

BACKGROUND: Thyroid carcinoma (TC) is extremely rare in children. We assessed the clinicopathological features, outcomes, recurrence pattern, and associated risk factors of differentiated thyroid carcinoma (DTC). METHODS: Children aged ≤14 years, pathologically diagnosed as DTC at a tertiary cancer institute between January 1998 and December 2015 were retrospectively analyzed. Survival outcomes were estimated using the Kaplan-Meier method. RESULTS: During 18 years, 125 children with DTC were treated with a male:female ratio of 1:2.3. The median age was 12 years (2-14 years). Anterior neck swelling was the commonest presentation (72.8%). Histopathology revealed papillary thyroid carcinoma (PTC) in 123 children (98.4%). Extrathyroidal extension was seen in 32 children (25.6%). Sixty-eight children (54.4%) had nodal metastases and seven had distant metastasis. Relapse developed in 12 children. All were salvaged with subsequent surgery and radioiodine therapy. Eight children had persistent disease and one had a second malignant neoplasm. The median follow-up period was 9 years 1 month (1-20 years). Five-year recurrence-free survival (RFS) was 94.8% and 5-year overall survival was 100%. Larger tumors (p-value = .001), extrathyroidal extension (p-value = .001), and nodal metastasis (p-value = .022) were significant predictors for RFS in univariate analysis. CONCLUSIONS: Pediatric DTC showed aggressive behavior characterized by a high rate of extrathyroidal extension and nodal and pulmonary metastasis. Persistent disease should be distinguished from recurrent disease as DTCs with metastatic disease remain stable for long time and usually respond well to radioiodine therapy. Our study reaffirmed favorable prognosis despite aggressive presentation and even after relapse.

Granular cell ameloblastoma - A rare entity with recurrence after 48 years.

A 64-year-old female with complaints of swelling right preauricular region was referred to our tertiary cancer center with fine-needle aspiration cytology (FNAC) report of mucoepidermoid carcinoma and radiological differential of malignant salivary gland neoplasm and sarcoma. On examination, there was a mass over her right parotid region Clinical diagnosis was malignant salivary gland neoplasm. Slide review of FNAC was inconclusive. Biopsy was done. Histopathology showed neoplasm comprising of nests of cells with abundant granular eosinophilic cytoplasm with focal area showing peripherally arranged columnar cells with palisading. On enquiry, the patient gave a history of surgery of right mandible 48 years back. Correlating histopathology and clinical history, a diagnosis of granular cell ameloblastoma was rendered. Radiological evaluation showed a solid-cystic lesion in the right masticator space. Right mandible showed only part of head of mandible consistent with previous surgery. Radical surgery was done. Final report confirmed the biopsy diagnosis.

Grossing and reporting of squamous cell carcinoma of oral cavity-An evidence-based approach.

The grossing of radical surgery specimens of the head and neck region is extremely challenging due to the complicated anatomy with the inclusion of various tissues such as mucosa, soft-tissue, bone, skin, etc., in the specimen. Also, essential/core data provided in the histopathology report significantly influence further treatment decisions taken. The eighth edition of the cancer staging manual of the American Joint Committee on Cancer has brought about major changes in reporting of squamous cell carcinoma of the oral cavity. Though pathologists in oncology centers who routinely handle such specimens are aware of these updates and the impact of their report on patient management, this may not be true for other peripheral centers that may be handling these specimens. Lack of awareness can lead to a compromised report which will adversely affect patient management. This article attempts to discuss the salient features to be noted in grossing and reporting of squamous cell carcinoma of the oral cavity and the rationale behind this.

Completion Thyroidectomy in Differentiated Thyroid Malignancy-A Prospective Analysis.

Completion thyroidectomy, being a surgically challenging procedure, choice of doing such procedure in differentiated thyroid cancer (DTC), remains unclear due to the complications involved following the procedure. So this study is intended to look into risk factors that will prompt completion thyroidectomy and surgery-related complications. A prospective analysis was done in 48 patients diagnosed with DTC during the year 2017. Completion thyroidectomy with or without neck dissection was performed as per institutional protocol. Clinico-radiological features were compared with histopathology in completion thyroidectomy specimen. The incidence of malignancy in completion thyroidectomy specimen and complications during the procedure were noted. Risk factors associated with malignancy were statistically analyzed. The incidence of malignancy in completion thyroidectomy specimen was 56.25%. Papillary carcinoma thyroid (PCT) had a statistically significant risk compared to follicular carcinoma thyroid (p = 0.042). Also, capsular invasion in primary specimen had a significant impact (p = 0.021) with odds of 7.20 times increase in incidence of malignancy and patients with age more than 55 years had a significantly increased risk of malignancy (p = 0.05). There was no statistically significant increase in complications following procedure, with respect to duration between surgeries or type of surgeries performed. Incidence of malignancy in completion thyroidectomy specimen was high. Completion thyroidectomy can be safely performed under experienced hands with an acceptable level of complications. It should be considered in places where patients are non-compliant and in those with PCT, tumor with capsular invasion and elderly patients.

Role of Rapid On-site Evaluation in CT-guided Fine Needle Aspiration Cytology of Lung Nodules.

OBJECTIVE: To prospectively investigate the value of rapid on-site evaluation (ROSE) in transthoracic fine needle aspiration cytology (FNAC) of patients with pulmonary nodules. Computed tomography (CT)-guided FNA is commonly employed for the diagnosis of lung lesions and the most common reason for not being able to provide a diagnosis in FNA is inadequacy of samples. MATERIALS AND METHODS: This was a prospective study conducted in the departments of pathology and radiology of our cancer centre. This study had approval from the institutional review board and ethical committee of our institute. Fifty consecutive cases undergoing CT-guided transthoracic FNAC in our centre were included in the study. The smear submitted for ROSE was stained using toluidine blue stain. The specimen adequacy and diagnosis in ROSE was compared with that of the final cytology report, and the concordance regarding adequacy and diagnosis were noted. RESULTS: Smears were adequate in 34 cases (68%) and inadequate in 16 cases (32%) Out of the 16 inadequate cases, 5 (31%) were converted to adequate due to the application of ROSE, thus increasing the adequate number of cases to 39 (78%). A diagnosis of malignancy was made in all 39 adequate cases. Sensitivity of ROSE in determining adequacy was 92% and specificity was 100%. The most common malignancy was adenocarcinoma in 26 cases. Pnemothorax occurred in 2 cases. No significant complications occurred in other cases. CONCLUSION: CT-guided FNA with ROSE is a safe and useful tool in the diagnostic work-up of lung cancer patients. A multidisciplinary approach along with onsite evaluation of adequacy will increase the diagnostic utility of cytology in lung lesions.

Cytomorphologic Spectrum of Hurthle Cell Lesions of Thyroid: A Study of 54 Cases.

INTRODUCTION: Lesions of the thyroid gland composed of Hurthle cells constitute a wide spectrum of pathological entities ranging from benign hyperplastic nodules with Hurthle cell metaplasia at one end to malignancies like Hurthle cell carcinomas. The cytological distinction of these entities is not only diagnostically challenging but are also critical since they influence treatment decisions. AIM: To critically analyze the cytomorphology of cases of Hurthle cell lesions in FNACs and to characterize cytological features shown to be statistically signific ant in predicting Hurthle cell neoplasm (HCN). METHODS: During the period from January 2014 to August 2015, 1667 cases of thyroid FNAs were done at our centre, of which 54cases,showed a predominance of hurthle cells, i.e. more than or equal to 50% hurthle cells (≥=50%).These cases were included in the study and were critically reviewed for 9 cytomorphologic features which included cellularity, architecture, and percentage of Hurthle cells, background colloid, chronic inflammation, nucleoli, intranuclear cytoplasmic inclusions (INCI), nuclear grooves and transgressing blood vessels (TBV). The results were evaluated by using univariate and stepwise logistic regression (SLR) analysis; statistical significance was achieved at P-value < 0.05. RESULTS: Out of the 9 parameters studied, the cytological features shown to be statistically significant in predicting HCN and distinguishing them from benign hurthle cell lesions(BHCLs) were increased cellularity, non-macro follicular architecture, >90% Hurthle cells, absence of background colloid and absence of chronic inflammation.

Cytomorphologic spectrum of lymphocytic thyroiditis and correlation between cytological grading and biochemical parameters.

INTRODUCTION: Chronic lymphocytic thyroiditis [Hashimoto thyroiditis (HT)] is a common thyroid lesion diagnosed on fine-needle aspiration cytology (FNAC). Apart from FNAC, various other parameters, such as clinical features, ultrasonographic findings, antithyroid antibody levels, hormone profiles, and radionuclide thyroid scan, are also taken into consideration in making a diagnosis of HT. AIMS: To grade lymphocytic thyroiditis based on the cytomorphology and to correlate the cytological grades with the levels of antithyroid peroxidase antibody (ATPO), antithyroglobulin antibody (ATG), and thyroid stimulating hormone (TSH). MATERIALS AND METHODS: During a period of one and half years, 1,667 cases underwent FNAC of thyroid at our tertiary care center. Of these, 128 cases had cytological evidence of lymphocytic thyroiditis. Out of these, in 60 cases the levels of ATPO, ATG, and TSH were known. The cytological grades of lymphocytic thyroiditis in these cases were correlated with these parameters. RESULTS: Out of the 60 cases, 55 were females. Age ranged from 5 years to 70 years, with majority of patients in third decade. Diffuse enlargement of thyroid was the commonest presentation. However, 14 cases presented with nodular disease. Majority of the patients had grade 1 thyroiditis (27 cases), followed by grade 2 thyroiditis (22 cases). Cytomorphology was diagnostic of thyroiditis in all 60 cases. ATPO was elevated in 57 cases and ATG was elevated in 40 cases. Elevated level of TSH was seen in only 18 cases. In 39 cases, TSH value was normal. There was no correlation between the cytological grades of thyroiditis and the levels of antithyroid antibodies and TSH. CONCLUSION: Lymphocytic infiltration of thyroid follicles is pathognomonic of lymphocytic thyroiditis. Positivity for antithyroid antibodies is strongly associated with HT but no correlation was observed between the grades of thyroiditis and the levels of ATPO, ATG, and TSH.

Renal metastasis from papillary carcinoma thyroid detected by whole body iodine scan: A case report and review of the literature.

Papillary carcinoma is the most common thyroid malignancy. Usual sites of metastasis include lungs and bone, but renal metastasis is very rare. Here we present a case of a follicular variant of papillary carcinoma with renal and lung metastasis at presentation.

Role of frozen section in the intra-operative margin assessment during breast conserving surgery.

BACKGROUND: Breast conserving surgery (BCS) is increasingly done for early breast cancers in many countries since it has been demonstrated by randomized trials that survival rates after BCS followed by adjuvant therapy are equivalent to those obtained after mastectomy. Frozen section analyses (FSA) is a technique used for intra-operative assessment of margin status in BCS. The aim of this study was to assess the concordance of margin status assessment by FSA and permanent sections and to assess correlation with local recurrence. MATERIALS AND METHODS: A total of 162 patients underwent BCS for in situ or invasive carcinoma with FSA of margins during the year 2008 at our center. The inclusion criteria in this study were patients with intact tumor at the time of surgery. After application of the inclusion criteria, 60 patients could be included in this study. RESULTS: After frozen section, 20 patients had an initial negative margin. 40 subjects underwent additional excisions at the time of initial surgery because of close or positive margins. Of these 40 patients, in 32 patients a negative margin could be achieved with re-excisions. Pathological analyses of frozen section showed concordance to permanent sections in all cases. At a median follow-up of 40 months, there were no local recurrences. CONCLUSION: Intra-operative FSA allows resection of suspicious margins at the time of primary conservative surgery and results in low rates of local recurrence and second surgeries. There is good concordance between results of FSA and the final paraffin section in assessing margin status.

Utility of fine needle aspiration cytology in evaluation of lymphadenopathy - An audit from a Cancer Centre in South India.

BACKGROUND: Cytological evaluation and diagnosis of lymphadenopathy plays an important role in distinction between reactive hyperplasia and malignancy.Being a tertiary cancer care centre, lymph node enlargement clinically suspected to be due to malignancy constitute the commonest indication for fine needle aspiration cytology (FNAC) at our centre. The aim of this study was to determine the utility of FNAC in evaluating enlarged lymph nodes and to categorizethe causes of lymphadenopathy diagnosed byFNAC at our centre. MATERIAL AND METHODS: Data was collected from the records of department of Pathology over a period of three months from January to March 2014. The data was analyzed and various parameters studied. RESULTS: There were 2000 aspirates over a period of three months of which 270 (13.5%) were from lymph nodes. Of these, 130 cases (48.2%) have metastatic deposits.We also came across 16 cases (5.9%) of lymphoma, 5 cases (1.9%) of granulomatous lymphadenitis, 2 cases (0.7%) of suppurative lesion and 99 cases (36.7%) of reactive hyperplasia during this period. In 3 cases (1.1%), the lesion turned out to be of salivary gland origin. Aspirates were suboptimal for diagnosis in 15 cases (5.5%). Aspirates were more in males (181) as compared to females (89). The most common site of aspiration was the cervical lymph node(64.5%),followed by supraclavicular=81(30%), inguinal=33(12.22%), axillary=19(7.04%) sub mental=1(0.37%) and others=7(2.59%). Apart from metastatic carcinomas other metastatic malignancies we came across were malignant melanoma, neuroblastoma, germ cell tumor and synovial sarcoma. CONCLUSION: FNAC of lymph nodes helps in rapid diagnosis of lymphadenopathy.Categorizingthe cause of lymph node enlargement as metastatic malignancy,lymphoma, reactive change, inflammatory cause,suppuration etc. can be done by FNAC.In patients with known histologically proven malignancy in whom a subsequent enlargement of lymph node occurs,a cytological diagnosis of metastasis helps in avoiding unwanted surgery for confirming metastasis.In patients without a previous diagnosis of malignancy, FNAC not only confirm metastatic deposit but in most conditions give a clue regarding site of primary. The use of immunocytochemistry and cell block preparations have increased the scope of FNAC.

Clinical and hematological profile of acute megakaryoblastic leukemia: a 2 year study.

Acute megakaryoblastic leukemia is a rare subtype of acute myeloid leukemia with a characteristic morphologic and immunophenotypic profile. It has to be distinguished from other subtypes of acute myeloid leukemia as well as acute myeloid leukemia with t (1; 22) (p13;q13) and acute megakaryoblastic leukemia in Down Syndrome because of its poor prognosis. We studied ten cases diagnosed over a period of 2 years (from July 2011 to June 2013). All the ten cases were in the pediatric age group ranging from 4 months to 2 years. On morphology, pointers to the diagnosis were clustering of blasts, presence of cytoplasmic blebs and platelet budding. An additional interesting morphological feature observed in our study was nuclear blebs which were seen in nine cases. Diagnosis was confirmed in all cases by positive immunostaining for CD61. Two of the cases had an extremely rare clinical presentation as granulocytic sarcoma. Although rare, acute megakaryoblastic leukemia should be kept in mind especially in leukemia in infants.

Primary Mixed Cellularity Classical Hodgkin lymphoma of the Lumbar spine - An unusual presentation.

UNLABELLED: Primary spinal epidural lymphoma (PSEL) is a subset of lymphoma. For the diagnosis of PSEL there should be no other recognizable sites of lymphoma other than the spine at the time of diagnosis. The incidence of this subset of lymphomas is very low. Hodgkin lymphoma (HL) usually presents with painless enlargement of peripheral lymph nodes and only a small percentage arises from extra nodal regions.Very few patients with HL develops spinal cord compression due to an epidural tumor at some time during the course of their disease. But patients with HL presenting with isolated primary involvement of the epidural spinal region is very rare with very few reports available in the literature. CASE: A 19-year-old male presented to the local hospital with history of low back pain for almost one year. An initial biopsy was non-contributory and was reported as showing inflammatory change. The patient was empirically started on antituberculosis medication but his condition worsened and within weeks he developed paraplegia. MRI of the spine showed a large paraspinal mass with compression of L1 vertebral body. Urgent surgical decompression was done and final histopathology showed a mixed cellularity classical Hodgkin lymphoma (MCCHL). Systemic work-up did not show evidence of nodal disease. Following surgery, he received chemotherapy. CONCLUSION: We report this case because of the unusual presentation of HL as a primary spinal mass. We would also like to highlight that apart from common causes, a differential diagnosis of HL should also be entertained while dealing with spinal masses. Otherwise diagnosis can be missed leading to delay in treatment and complications.

Primary Melanoma of Infra Temporal Fossa: A Case Report.

This is the second case report in English literature of a primary non-cutaneous non mucosal melanoma (NCNM) originating from Infratemporal fossa (ITF). A 21 year woman who was previously treated for craniopharyngioma 14 years back with surgery and radiation, presented with left ITF swelling which after excision was histologically confirmed to be NCNM. She has been disease free till date. Therapeutic difficulties and diagnostic dilemmas in such a case are discussed. We propose the term of non cutaneous non mucosal melanoma (NCNM) for this rare entity.

Role of imprint cytology in intra operative diagnosis of thyroid lesions.

UNLABELLED: Intra-operative imprint cytology is an important diagnostic modality in the diagnosis of thyroid lesions. A correct intra-operative diagnosis helps eliminate the need for second surgery. AIM: To study diagnostic accuracy of imprint cytology and to compare the imprint cytology results with that of the corresponding paraffin section diagnosis in thyroidectomy cases. MATERIALS AND METHODS: This is a prospective study of 84 patients who have undergone thyroidectomies over a period of one year at the Department of Surgery, Thiruvananthapuram, Kerala, India. The intraoperative imprint cytology smears were stained by Papanicolaou method. The imprint cytology interpretation was later compared with the paraffin section diagnosis. RESULTS: Of the 84 patients using haematoxylin and eosin stained histopathology sections as the gold standard, the diagnostic sensitivity of imprint cytology was 75% and specificity was 100%. Positive predictive value was 100%. Negative predictive value was 98.74%. CONCLUSIONS: Imprint cytology has high sensitivity and specificity in diagnosing lesions of the thyroid. The problems faced were in diagnosing follicular carcinomas and differentiating low grade lymphoma from lymphocytic thyroiditis. Imprint cytology is a simple, reliable diagnostic technique. It has high sensitivity and specificity in intra-operative diagnosis of lesions of thyroid. In spite of the advent of newer diagnostic modalities like frozen sections, imprint cytology still holds its unique position in the current perspective.