Evaluation of epidermal growth factor receptor mutations based on mutation specific immunohistochemistry in non-small cell lung cancer: A preliminary study.

Background & objectives: Studies have shown that immunohistochemical (IHC) staining using epidermal growth factor receptor (EGFR) mutation specific antibodies, is an easy and cost-effective, screening method compared with molecular techniques. The purpose of present study was to assess the percentage positivity of IHC using EGFR mutation specific antibodies in lung biopsy samples from patients with primary lung adenocarcinoma (ADC). Methods: Two hundred and six biopsies of primary lung ADC were subjected to EGFR mutation specific antibodies against del E746-A750 and L858R. Detection of EGFR mutation done by high resolution melting analysis (HRM) was used as gold standard. A concordance was established between molecular and IHC results. Frequency of IHC positivity was assessed. Results: Of the 206 patients, 129 were male and 77 were female patients, with a mean age of 54.1 yr. Fifty five (26.6%) patients (36 men; 19 women) showed positivity for IHC of del E746-A750 (33) and L858R (22). HRM results were available in 14 patients which showed EGFR mutations in correspondence with del E746-750 or L858R in 64.2 per cent cases. Positive cases on HRM were further confirmed by DNA sequencing and fragment analysis. Three patients showed exon20 variation. Two cases were negative for mutation. The genotype of del E746-750 mutation was more common than L858R. A concordance was established between molecular mutation and IHC in 85.7 per cent cases. Interpretation & conclusions: In this preliminary study from India mutation specific IHC was used for assessment of mutation status of EGFR. Although the number tested was small, a good concordance was observed between molecular EGFR mutation and IHC expression. IHC methodology is a potentially useful tool to guide clinicians for personalized treatment in lung ADC, especially where facilities for molecular analysis are not readily available and for use in small biopsies where material is scant for molecular tests.

Leiomyosarcoma of inferior vena cava: A case series of four cases.

Vascular leiomyosarcomas are rare tumors, arising most frequently from inferior vena cava (IVC). They are mostly seen in sixth decade, with a female predominance. Their diagnosis is often challenging, as patients may present with non-specific complaints such as dyspnea, malaise, weight loss, abdominal pain, or back pain, preceding the diagnosis by several years. Leiomyosarcoma of the IVC most frequently occurs in the middle segment. The final diagnosis can be made by an ultrasound or computed tomography guided biopsy. Because of limited experience with this disease, optimal management of IVC leiomyosarcoma is unknown. Curative surgical resection remains the current treatment of choice for primary leiomyosarcoma of IVC. Neoadjuvant therapy may be given to downsize the tumor and increase resectability rates. Nonetheless, when complete resection is not possible, debulking combined with radiation therapy still provides good palliation. We, hereby, report four cases of this rare entity with emphasis on management.

Port site tuberculosis: A case report and review of literature.

Sumrnury: A rare case of port site tubercular infection is reported. A young male patient presented, one month after laparoscopic inguinal hernia repair with discharging sinuses at the port sites. Biopsy of the sinus tract showed features of tuberculosis. Excision of sinus tract was done and the patient was started on anti-tubercular therapy, sinuses healed. Probably, the source of tubercular infection was laparoscopic instruments. Proper sterilization of laparoscopic instruments is necessary.

Anaplastic transformation of metastatic papillary thyroid carcinoma at shoulder mimicking soft tissue sarcoma.

A 52-year-old woman presented with fracture upper end of the left humerus after trivial trauma and aspiration cytology from the lytic lesion in the upper humerus seen on X-ray revealed a metastatic papillary carcinoma from the thyroid. Total thyroidectomy confirmed the papillary carcinoma thyroid. Post-operatively, she was given radioactive iodine (I-131) ablation therapy for 8 years and was asymptomatic during this period; however, for the last 1 year, she has been complaining of swelling in the shoulder, which did not respond to palliative radiotherapy and rapidly increased in size. Disarticulation of the shoulder joint was performed, which showed anaplastic carcinoma on histopathological examination. Anaplastic transformation of papillary carcinoma at the metastatic sites is well documented in the literature and is rare. However, the same has not been reported at the shoulder and from India before. Although soft tissue sarcomas are most common at this site, however, the possibility of anaplastic transformation should be kept in the differential diagnosis of rapidly enlarging painful mass in a known case of metastatic thyroid carcinoma to prevent misdiagnosis.

Thoraco-abdominal mature teratoma in a left diaphragmatic hernia.

This case describes a contiguous mediastinal and retroperitoneal mature teratoma in a congenital diaphragmatic defect, a combination that is hitherto unreported in literature. It substantiates embryological chronology of events during the cephalad migration of the primordial germ cells through the developing diaphragm, prior to its closure.

Mixed gonadal dysgenesis with normal karyotype : A rare case report.

Mixed gonadal dysgenesis (MGD) presents as a unilateral testis, usually intraabdominal, a streak gonad on contralateral side, and persistent mullerian structures. 45X/45XY karyotype is most frequent in such cases with predominance of 45X cells in both peripheral lymphocytes and gonads. We present a rare case of a left undescended testis, normally descended right testis, with penoscrotal hypospadias, who had a normal karyotype and whose histopathological findings were endometrial tissue and fallopian tube in left testicular biopsy. Gonadal dysgenesis should always be kept a possibility in patient with undescended testis and proximal hypospadias. If karyotype reveals a 46XY gonadal dysgenesis, these patients need all the more careful follow-up to screen for gonadoblastoma in remaining normal testis. Subjecting the patients to prophylactic orchidectomy with hormone replacement can be an additional option in such patients.

Diagnosis of Pneumocystis pneumonia by bronchoalveolar lavage cytology: experience at a tertiary care centre in India.

BACKGROUND: Diagnosis of Pneumocystis pneumonia requires morphological demostration of P. carinii (now re-named as P. jiroveci). Although bronchoalveolar lavage (BAL) fluid cytology constitutes a formidable tool for detecting this infection, few studies on the utility of BAL cytology in diagnosing PCP are available from India. The present study reports the clinical spectrum, cytomorphological features and the utility of BAL cytology in diagnosing Pneumocystis infection from a tertiary care centre in India. METHODS: Retrospective study of 13 patients with PCP, diagnosed on examination of BAL fluid. RESULTS: The mean age of the patients was 41.2 years. One patient had human immunodeficiency virus (HIV) infection, while the other 10 were renal transplant receipients on immunosuppressive therapy. The immune status of two patients was unknown. Fever, cough and shortness of breath were the main presenting symptoms. Radiological diagnosis of Pneumocystis pneumonia was offered in only one case. Foamy alveolar casts were present in all cases. Silver methanamine stain enhanced the rounded, helmet or cleft forms of sporozoites. Inflammatory infiltrate was mainly polymorphonuclear. CONCLUSIONS: BAL cytology, thus, constitutes a useful diagnostic modality for morphological documentation and reliable diagnosis of Pneumocystis pneumonia in an immunocompromised host. Pneumocystis pneumonia appears to be a common opportunistic infection in renal transplant receipients in India.

Role of fine needle aspiration cytology in the diagnosis of goiter.

Enlargement of the thyroid gland is a common occurrence in most parts of the world especially in the iodine-deficient goiter belt areas. Vast majority of these lesions are benign but they invariably lead to a series of investigations among which FNAC plays a pivotal role. Although many studies have reported diagnostic accuracy of FNAC in detecting neoplasms, there have been few studies where the role of FNAC in the diagnosis of goiter along with their diagnostic pitfalls has been evaluated. The present study was undertaken to assess the accuracy of FNAC in diagnosis of goiter and to highlight its limitations and diagnostic pitfalls. 771 cases over a five-year period were retrieved from the files of Cytopathology Laboratory, Department of Pathology at the All India Institute of Medical Sciences, New Delhi. They included 733 cases where the cytological diagnosis was goiter or suggestive of goiter along with 38 cases in which the histological diagnosis was goiter while the cytological diagnosis was cystic change or neoplasm. FNAC with minimum of two passes were performed in each case and May Grünwald Giemsa and Papanicolaou stains were done. Histology was available in 192 cases. The cytological and histological concordance was determined and the FNAC smears and histological sections in cases showing discordance were reviewed. There was cytological and histological concordance 130/168 (77.38%) cases. In 34 cases (20.23%) no diagnosis could be offered because of cystic change. A false positive cytologic diagnosis of neoplasm was made in 4 cases. Presence of hurthle cell metaplasia, hyperplastic nodules and papillary hyperplasias were responsible for the false positive diagnoses. In 24 cases neoplasms were initially missed on FNAC of which 10 cases could be detected on review while 5 cases were considered unsatisfactory. Sampling errors were mainly responsible for these false negative diagnoses. FNAC is thus an accurate and reliable diagnostic tool for management of goiters provided strict adherence to adequacy criteria are maintained.

Sclerosing stromal tumour of ovary--a clinicopathological and immunohistochemical study of five cases.

We describe the clinicopathological and immunohistochemical findings in five cases of sclerosing stromal tumours of ovary and compare our findings with other reported cases of this uncommon tumour and with fibromas and thecomas which they may mimic.

Adenomyoepithelioma of the breast: a potential diagnostic pitfall on fine needle aspiration cytology.

Adenomyoepithelioma is a rare myoepithelial cell-rich tumour of the breast. We report a case of adenomyoepithelioma in a 60-year-old female, where it evoked the suspicion of a carcinoma on fine needle aspiration cytology (FNAC) smears and also review the literature on FNAC diagnosis of this rare tumour.

Sertoli Leydig cell tumor with heterologous gastrointestinal epithelium: a case report.

Sertoli Leydig cell tumour (SLCT) of the ovary with the presence of heterologous elements is very unusual. A case of SLCT with virilizing symptoms and androgenic endocrinological profile is presented. The tumor showed presence of heterologous element in the form of mucinous epithelium of the gastrointestinal type.