Follicular dendritic cell sarcoma of the thigh: a clinicopathological report and management approach.

Follicular dendritic cells are antigen-presenting immune accessory cells of mesenchymal origin. Follicular dendritic cell sarcomas (FDCS) typically occur in nodal and extranodal sites. However, presentation in the extremity has rarely been reported. A woman in her 60s had a painless, slow-growing right posterior thigh swelling, which had been present for 9 months. Imaging revealed a subcutaneous lesion in the posterior aspect of the right mid-thigh. Fine-needle aspiration cytology from the lesion was suggestive of a malignant spindle cell neoplasm, and she underwent its wide local excision. Immunohistochemistry showed expression of epithelial membrane antigen and CD35, but an absence of cytokeratin, desmin, CD23 and S100. The Ki-67 index was low and a diagnosis of FDCS was made. The lack of clinical guidelines was a challenge in the treatment of this rare case. A multidisciplinary board discussion played a critical role in the planning of the patient's adjuvant treatment.

Recurrence of renal cell carcinoma after three decades in an octogenarian: Small molecules adding life to years.

Renal cell carcinoma (RCC) is the most common primary renal neoplasm. About a half of our patients relapse after primary treatment. We present here a case of RCC with solitary metastasis to the pleura which occurred 32 years after nephrectomy. Our patient is an 86-year-old male who presented to us with a cough of 2 months and a history of having undergone a right nephrectomy 32 years back. Imaging of the chest showed left pleural effusion with a left pleural nodule. Computed tomography-guided fine-needle aspiration cytology from the pleural nodule was suggestive of malignancy with a clear cell morphology, suggestive of clear cell RCC. The patient was started on sunitinib 25 mg once daily. After the 1st month, the patient's performance status improved markedly, with no cough and improved appetite. He had developed Grade II hand-foot syndrome, which was managed conservatively, and the dose was deescalated to 25 mg once daily - 5 days on and 2 days off. An X-ray of the chest taken 6 weeks after the start of therapy showed complete resolution of the pleural fluid and regression of the pleural nodule. The patient is alive and well 5 years into therapy. The case highlights the unusual propensity for very late metastasis in RCC. Metastasis after 30 years is extremely rare. Another highlight of the case is the good tolerability of the dose-modified schedule of sunitinib. Wise patient selection and dose modification can certainly add "life to the years" in our very elderly patients.

Role of CAIX Expression in Conventional Renal Cell Carcinomas as a Diagnostic Marker and its Prognostic Importance.

Significant advances in understanding of the biology of renal cell carcinoma (RCC) have been achieved recently, which led to novel targeted therapies, revolutionising the management of patients with advanced disease. To date, there are no molecular markers which can reliably predict RCC outcome. We investigated whether a novel kidney cancer marker, carbonic anhydrase IX (CAIX), is associated with progression and survival. A retrospective study was done on patients diagnosed with renal cell carcinoma over a period of 5 years. Immunohistochemical analysis using a CAIX monoclonal antibody was performed on paraffin-embedded blocks from patients treated with nephrectomy for clear cell RCC. Patients were segregated into two categories based on CA IX expression as CA IX ≤ 85% and CA IX > 85%. A comparison was made based on the survival (from date of diagnosis) with CA IX expression. Correlation of CA IX expression and TNM staging, nuclear grading, tumour volume and age was statistically studied using Student's t test. The association between survival and CA IX was done using Mann-Whitney test. The association of CA IX with rest of the prognostic variables were analysed using Fisher's exact test. In our study, CA IX expression > 85% had longer survival compared with those with lower expression ≤ 85%. A significant statistical association was seen with CAIX and lymphovascular emboli, major vessel, perinephric fat, renal sinus fat involvement and distant metastasis. CAIX reflects significant changes in tumour biology that predicts clinical outcome and identify high-risk patients for adjuvant immunotherapy and CAIX targeted therapies.

Grossing and reporting of a soft tissue tumor specimen in surgical pathology: Rationale, current evidence, and recommendations.

Soft tissue tumors, including sarcomas are complex and diagnostically challenging tumors. This is as a result of their heterogeneity and overlapping clinicopathological, immunohistochemical and also molecular features, the latter to some extent. More than 80 types of sarcoma have been described. Current management, which is best offered at centers with active multidisciplinary care, is based on balancing oncologic and functional outcomes in such cases. This has transcended into the types of specimens received for grossing these rather uncommon tumors. Over the years, diagnostic specimens have reduced in their sizes from, open biopsies to core needle biopsies. These specimens need to be adequately and judiciously triaged for ancillary techniques, such as molecular testing. Conservative surgeries have led to resected specimens for marginal assessment. Lately, post neoadjuvant (chemotherapy or radiation therapy)-treated resection specimens of soft tissue sarcomas are being submitted for surgical pathology reporting. This article focuses on the grossing of soft tissue tumors, including sarcomas, in terms of types of specimens, grossing techniques including rationale, tissue triage, reporting, and recommendations from the surgical pathologists actively engaged in reporting musculoskeletal tumors, based on current evidence.

Microscopic study of chronic charcot arthropathy foot bones contributes to understanding pathogenesis - A preliminary report.

INTRODUCTION: Charcot arthropathy (CA) is non-infective, chronic destructive condition affecting the pes architecture of long standing diabetic patients with neuropathy. Even though several theories have emerged to disclose its pathogenesis, inflammatory cytokine induced osteoclastogenesis stands as the chief culprit. Studies on micro-architecture of foot bones of acute stage CA patients, describes mainly destructive phase of bone remodelling. Increased osteoclast cell activity is reported in all studies communicated. No study has to the best of our knowledge detailed the microscopic structure of chronic stage CA foot bones. AIM: To study the microscopic structure of foot bones in patients with chronic CA. MATERIALS AND METHODS: Foot bones were collected from the feet of chronic CA patients (six in number) who underwent corrective foot surgery in the Department of Podiatric Surgery of a tertiary care hospital. Control samples were collected from the feet of age matched non-diabetic controls (2 in number). The samples were fixed in formalin, decalcified in 10% nitric acid, processed, sectioned and stained with haematoxylin and eosin. Histopathology and histomorphometry analysis were performed by two different pathologists. RESULTS: Trabeculae of chronic CA foot bones exhibited mainly a lamellar architecture, with reduced number of osteocytes and plenty of empty lacunae. Trabecular connectivity was lost and trabeculae showed considerable thinning. Trabecular osteoids lined by active osteoblast cells was a remarkable observation. Bone area was also considerably reduced in chronic CA foot bones. CONCLUSION: Chronic stage CA foot bones presented features of both healing and fragile bone. The compromised bone quality may be due to thin and fragmented trabecular structure and reduced cellularity.

Diagnostic Efficacy of Ultrasound-Guided Fine Needle Aspiration Combined with the Bethesda System of Reporting.

BACKGROUND: Image-guided fine needle aspiration cytology (FNAC) is emerging as an important diagnostic tool in the evaluation of thyroid swellings. AIM: This study aims to assess the efficacy of ultrasound (US)-guided FNAC combined with "The Bethesda system' of reporting as a primary screening test for all thyroid lesions. SETTINGS AND DESIGN: A prospective cohort study was made and all the US-guided FNACs done were followed up to find out the histopathological diagnoses wherever surgery was done. MATERIALS AND METHODS: In all, 1050 patients who underwent US-guided FNAC were studied during a period of 1 year. Age, sex, cytological features, and histological diagnoses were analyzed. Statistical analyses of all the findings were done to derive conclusions. RESULTS: Of the 1050 patients, only 10.5% underwent surgery. Higher than expected rate (as per the Bethesda system) of malignancy was noted with the so-called grey zone lesions. The test results revealed a high level of sensitivity, specificity, and diagnostic accuracy. CONCLUSION: The study showed that The Bethesda System of Reporting Thyroid Cytology provides effective communication between clinician and pathologists thereby enabling clear management strategies. We also concluded that US-guided FNACs offer better results compared with palpation-guided FNACs.

Primary chondrosarcoma of the heart.

Primary cardiac chondrosarcoma is extremely rare with very few cases reported in the literature. Most cardiac chondrosarcomas described in the literature are secondary. We report herein a case of 22-year-old man who presented with easy fatigability, which the general practitioner diagnosed as mitral stenosis clinically. Echocardiography showed left atrial mass, possibly myxoma. The histopathology of the excised mass revealed mesenchymal chondrosarcoma, confirmed by immunohistochemistry. Clinical and radiological studies did not reveal any other neoplasm.

Gastric Angiomyolipoma Masquerading as Gastric Malignancy.

Gastric angiomyolipoma (AML) is extremely rare, with only 3 cases reported in English literature, all of which presented with upper gastrointestinal bleed, either in the form of hematemesis or melena. A 42-year-old man presented with upper gastrointestinal bleed, the source of which was found to be a large mass in the stomach, which was shown histologically to be gastric AML. This is the fourth but largest tumor (9 × 6 × 5 cm) to be reported to date.

Plexiform Neurofibroma of Clitoris.

The most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopathology confirmed the diagnosis. Though rare, plexiform neurofibroma of clitoris should always be considered as a differential diagnosis in children with clitoromegaly before embarking on detailed investigations.

Radiological and Histopathological Outcome of Giant Cell Tumor of Femur with Denosumab Treatment: A Case Report.

Giant Cell Tumour of Bone (GCTB) is a benign but locally aggressive osteolytic skeletal neoplasm of young adults consisting of giant cells expressing RANK (Receptor Activator of Nuclear Factor-κB) and mesenchymal spindle-like stromal cells expressing RANKL (RANK ligand). The interaction of these cells leads to bone resorption. Recently, the RANKL inhibitor, denosumab, has demonstrated activity against giant-cell tumours. The current article reports a case of a Giant cell tumour of left distal femur with pathological fracture. A 34-year-old male patient presented with history of on and off dull aching pain in the left knee for 4 months followed by a history of trivial fall. He sustained a closed injury in the left knee, following which he was unable to bear weight and developed pain and swelling in left knee. Conventional radiographs and Computerized tomography (CT) was done which showed the presence of a left distal femoral osteolytic lesion and a histological analysis of a biopsy specimen confirmed the diagnosis of GCTB. The patient was treated with neoadjuvant denosumab therapy which resulted in successful downstaging of the tumour followed by extended curettage of the lesion with high speed burr and argon laser cautery. The post-curettage microscopic examination revealed the absence of osteoclast-type giant cells.

Fine needle aspiration cytology of hepatoblastoma: a study of 20 cases.

Hepatoblastoma (HBL) is the most common primary malignant hepatic tumor in children. The aim of the present study is to describe cytological findings of HBL, to subclassify it, and to discuss differential diagnoses. Twenty cases were taken from records of Cytopathology department, Gujarat Cancer and Research Institute, Ahmedabad. The aspiration smears were stained with Papanicolaou stain andlor Giemsa stain. Cytological and architectural criteria were applied to aspiration smears. Fifteen cases (75%) of HBL were diagnosed in the patients below the age of two years. The commonest presentation was found to be lump in abdomen. On the basis of cytoarchitectural features, HBL was classified in two groups undifferentiated and differentiated. Morphologically, the tumor cells were commonly arranged in acinar pattern, papillary pattern, or in sheets. FNA cytology alone had some limitations in the diagnosis of HBL. Hence, cytoarchitecture in combination with clinicalfeatures, imaging techniques and serum a-fetoprotein levels were helpful for specific diagnosis of HBL and to rule out various others differential diagnosis of small round cell tumor. The cytological differential diagnosis between differentiated HBL and Hepatocellular carcinoma (HCC) was found to be very difficult.

Colonic polyposis syndromes--an experience from a tertiary centre in South India.

BACKGROUND: Several polyposis syndromes of the gastrointestinal tract have been recognized which carry increased risk for cancer and have a genetic predisposition. There is a paucity of literature regarding the occurrence and the burden of colonic polyposis syndromes in the Indian subcontinent. This study attempts to highlight this hitherto unaddressed burden and the associated increased risk for inherited colonic cancer in this geographical location. METHODS: A retrospective study of various colonic polyposis syndromes encountered at a tertiary centre in South India over a period of 8 years (2005 to 2012) was performed. The diagnosis in each case was made histologically with clinicopathological correlation. RESULTS: Fifty cases were identified as belonging to a colonic polyposis syndrome, during the study period. There were 27 males and 23 females with a median age of 36.5 years (range 19 months to 78 years). The commonest syndrome was familial adenomatous polyposis (n = 27; 54 %) followed by Peutz-Jeghers syndrome (n = 11), attenuated familial adenomatous polyposis (n = 7), juvenile polyposis syndrome (n = 3), hyperplasic polyposis syndrome (n = 1) and Cronkhite-Canada syndrome (n = 1). Colonic malignancy was documented at first presentation in 22 patients (44 %). CONCLUSIONS: Our study highlights the various colonic polyposis syndromes encountered in a tertiary care institution in Southern India.

Molecular classification and prognostication of 300 node-negative breast cancer cases: A tertiary care experience.

BACKGROUND: The proportion of node-negative breast cancer patients has been increasing with improvement of diagnostic modalities and early detection. However, there is a 20-30% recurrence in node-negative breast cancers. Determining who should receive adjuvant therapy is challenging, as the majority are cured by surgery alone. Hence, it requires further stratification using additional prognostic and predictive factors. SUBJECTS AND METHODS: Ours is a single institution retrospective study, on 300 node-negative breast cancer cases, who underwent primary surgery over a period of 7 years (2005-2011). We excluded all cases who took NACT. Prognostic factors of age, size, lymphovascular emboli, estrogen receptor (ER), progesterone receptor (PR), HER2neu Ki-67, grade and molecular classification were analyzed with respect to those with and without early events (recurrence, metastases or second malignancy, death) using-Pearson Chi-square method and logistic regression method for statistical analysis. RESULTS: Majority belonged to the age group of 50-70 years. On univariate analysis, size >5 cm (P = 0.03) and ER negativity had significant association (P = 0.05) for early failures; PR negativity and lymphovascular emboli (LVE) had borderline significance (P = 0.07). Multivariate analysis showed size >5 cm to be significant (P = 0.04) and LVE positivity showed borderline significant association (P = 0.07) with early failures. About 62% belonged to luminal category followed by basal-like (25%) in molecular classification. CONCLUSIONS: ER negativity, PR negativity, LVE/lymphovascular invasion positivity and size >5 cm (T3 and T4) are associated with poor prognosis in node-negative breast cancers.

Diagnosis of carcinomas of extrathyroidal origin with fine needle aspiration cytology of the thyroid: An experience from a tertiary care center in South India.

Intrathyroidal metastasis and direct extension of extrathyroidal malignancies can present with palpable thyroid nodules or may be detected as suspicious nodules in a thyroid scan. They can lead to diagnostic difficulty in fine needle aspiration cytology (FNAC) of the thyroid, especially in the absence of any previous history of such malignancies. Here we report an interesting case of intrathyroidal metastasis, which was initially suspected as a primary carcinoma of the thyroid; along with a short summary of a series of 11 cases of carcinomas of extrathyroidal origin, diagnosed in the FNACs of thyroid over the past three years in our institute. Knowledge of the potential diagnostic pitfalls in thyroid FNAC, a proper clinical evaluation, and judicious use of the ancillary techniques will help to attain a proper diagnosis.

Autochthonous blastomycosis of the adrenal: first case report from Asia.

Systemic endemic mycoses, such as blastomycosis, are rare in Asia and have been reported as health risks among travelers who visit or reside in an endemic area. Adrenal involvement is rarely seen in blastomycosis and has never been reported from Asia. We report the first case of blastomycosis with bilateral involvement of the adrenals in a diabetic patient residing in the state of Arunachal Pradesh, India.

Carcinosarcoma of the uterus-a single institution retrospective analysis of the management and outcome and a brief review of literature.

Uterine carcinosarcomas are highly aggressive tumors of the uterus associated with a poor prognosis. Though initially classified as sarcomas, now these tumors are classified as carcinomas. The management approach of carcinosarcomas has also changed from those used for high grade sarcomas to that used for managing high grade endometrial carcinomas. The purpose of our study was to analyze the management and outcome of patients with uterine carcinosarcomas treated at our institution and also to attempt a brief review regarding the management of uterine carcinosarcomas. We did a retrospective analysis of all patients with a diagnosis of carcinosarcoma of the uterus treated at our Institution from January 2005 till December 2010. All Patients with a pathological diagnosis of carcinosacrcoma or malignant mixed mullerian tumours of the uterus were included. Data was obtained from the hospital electronic medical records and the hospital cancer registry. Data was analyzed using SPSS v.17. During this 6 year period we had 20 patients with carcinosarcoma of the uterus. 75 % of the patients belonged to Stage I and II. 95 % of the patients underwent Hysterectomy with Bilateral salpingo oophorectomy and 60 % had lymphadenectomy also along with hysterectomy.8 patients had disease recurrence . In patients who had gross extrauterine disease at the time of surgery , the survival was only 9 months whereas in patients who had complete staging with disease confined to the uterus , the survival was 36 months. Carcinosarcomas, accounts for more than 15 % of the uterine cancer associated deaths. Surgery remains the cornerstone of management for these tumors and surgery with pelvic and para aortic lymphadenectomy and peritoneal and omental biopsies is required for the correct staging of the disease and may also provide a survival advantage. Radiation therapy has been shown to provide only better local control without any survival advantage. Further studies are needed to assess whether chemotherapy offers a definite survival benefit in uterine carcinosarcomas.

Sirenomelia: case reports and current concepts of pathogenesis.

We present 2 cases of sirenomelia and highlight the recent theories about its pathogenesis. Both cases had a large aberrant abdominal umbilical artery (AAUA) arising from the aorta, suggesting vascular steal as the pathophysiology. However, the bilateral upper limb defects noted in 1 case, the reported 10% association of holoprosencephaly and anencephaly, and the reports of sirenomelia with normal umbilical arteries point to the alternative caudal dysgenesis (CD) theory. This proposes that an insult at the early blastogenic stage interferes with the formation of the notochord, resulting in abnormal development of caudal structures, an AAUA, and occasional neural tube defects. We have also analyzed the implications of the similarities between sirenomelia/CD and the VATER association; the increased risk of CD but not sirenomelia in infants of diabetic mothers; the fact that sirenomelia, holoprosencephaly, and the VATER association are all more common in monozygotic twins; the experimental production of sirenomelia in mice; and the possible genetic implications of the co-occurrence of sirenomelia and CD.

Oncogenic osteomalacia from nasal cavity giant cell tumor.

BACKGROUND: Oncogenic osteomalacia is a rare paraneoplastic syndrome characterized by osteomalacia, which occurs as a result of excess renal phosphate excretion caused by fibroblast growth factor-23 secreted by mesenchymal tumors. This entity is rare in head and neck cancers. We report a rare case of oncogenic osteomalacia in a patient with an anterior skull base giant cell tumor. METHODS AND RESULTS: A 34-year-old woman presented with a 5-year history of progressive weakness in both lower limbs and the trunk. Hypophosphatemia and hypocalcemia had been noted by a local physician, but her symptoms persisted despite receiving calcium and vitamin D supplements. A recent onset of epistaxis and nasal blockage led to referral to the head and neck services. Nasal endoscopy revealed a left nasal cavity mass. Further evaluation with imaging studies revealed a mass in the nasal cavity with intracranial extension. Biopsy of the lesion suggested a neurogenic tumor. A putative diagnosis of anterior skull base neurogenic tumor with paraneoplastic hypophosphatemia was made. After the biochemical parameters were corrected, the patient underwent craniofacial resection. The final histopathologic study suggested the lesion as a "giant cell tumor." During the postoperative period the patient's biochemical and clinical symptoms improved dramatically, allowing her to regain normal mobility. CONCLUSIONS: Clinicians and pathologists must be aware of the clinical symptoms, laboratory abnormalities, and pathologic features of oncogenic osteomalacia, which may be caused by tumors in the head and neck and thus make an exhaustive effort to diagnose the same.

Neuroendocrine tumor of vulva: a case report and review of literature.

Neuroendocrine tumor (Merkel cell carcinoma-MCC) of the vulva is a very rare entity with less than 15 cases reported in the English literature. It is known for its aggressive behaviour and propensity for early dissemination. The actual cell of origin and etiology of this disease is controversial. In absence of any definite guidelines for management (due to its rarity), extrapolation of data from extra-vulvar MCC seems logical. We present a case of vulvar neuroendocrine tumor who presented at a locally advanced stage.