Erythrokeratoderma variabilis (EKV) - First Nepalese case documenting GJB3 mutation.

Erythrokeratoderma Variabilis (EKV) is a rare genodermatosis, characterized by variable erythematous and hyperkeratotic skin lesions. It is most often transmitted in autosomal dominant manner (AD). Casual mutations were found in the GJB3 and GJB4 genes encoding connexins 31 and 30.3, respectively. We report a 7-year-old girl with multiple dusky red and brown skin lesions on face, buttock, both arms and legs. This diagnosis was made on the basis of clinical and histological findings and further genetic analysis detected a G > C transition at position 125 of the coding sequence, which replaces arginine with a proline at residue 42 of the protein (R42P). Here, we report a first case of Nepalese patient with EKV resulting from the GJB3 mutation.

Fine needle aspiration cytology of Kikuchi-Fujimoto disease.

BACKGROUND: Kikuchi-Fujimoto disease is an acute onset febrile illness of unknown etiology, predominantly affecting young women with predilection for cervical lymphadenopathy. METHODS: The study included 13 cases of Kikuchi-Fujimoto disease with both fine needle aspiration cytology and excisional biopsy of lymph node available and data & slides were retrieved from the department of Pathology, Tribhuvan University Teaching Hospital and Om Hospital & Research Centre Pvt. Ltd., Kathmandu, Nepal from August 2009 to July 2013. RESULTS: The mean age of the patients was 27.6 years with a range of 17 to 38 years. Twelve of 13 patients had cervical lymphadenopathy. Cytomorphological features included cellularity, karyorrhectic debris, crescentichistiocytes, necrosis and cellular polymorphism. Histologically, Lymph nodes showed partially effaced architecture by paracortical pale foci with karyorrhectic debris. These foci were composed of phagocytic & non-phagocytic histiocytes, plasmacytoid monocytes, immunoblasts and lymphocytes. CONCLUSIONS: Kikuchi-Fujimoto disease, in most cases, can be diagnosed cytologically on the basis of identification of karyorrhectic debris and crescentic macrophages with reactive background.

Fine needle aspiration cytology of neck masses in a hospital.

BACKGROUND: Fine needle aspiration cytology is a valuable technique in the work-up of masses arising within neck and represents a screening, inexpensive, and rapid technique to sample masses found in neck. METHODS: This study included 117 cases of neck masses, subjected to fine needle aspiration cytology at the department of Pathology of a hospital in Nepal from January 2013 to December 2013. RESULTS: The study included 117 patients with neck masses with median age of 37 years. The majority of the patients were in the age group of 20-29 yrs with female predominance. The most frequent cause of neck swelling is lymphadenopathy 65 (55.6%), followed by thyroid swelling 36 (30.7%), soft tissue lesion 12 (10.3%) and salivary gland lesions 4 (3.4%). The most common lesion in these patients was non-neoplastic, followed by malignant neoplasm. Tuberculosis is the most common cause of neck lymphadenopathy and colloid goiter is the commonest cause of thyroid swelling. In soft tissue, abscess is the most frequent one. Pleomorphic adenoma is more common than other salivary gland lesions. CONCLUSIONS: Lymphadenopathy is commonest cause of neck mass, followed by thyroid gland & soft tissue swellings. Tuberculosis is the most common diagnosis of neck masses, followed by colloid goiter. Fine needle aspiration cytology is pretty accurate technique to diagnose neck masses and it is helpful to avoid unnecessary surgeries and in general clinical management and it is recommended as a first line of investigation in the diagnosis of neck masses.

Comment on "status of pathology professionals".

In 2012 Jan issue, Journal of Nepal Health Research Council published an article "Status of Pathology Professionals" by Mishra SK affiliated to Concern for Public Health and Development (C-PHD), Kathmandu, Tiwari BR affiliated to Department of Clinical Microbiology, People's Dental College, Tribhuwan University and Yadav BK from Department of Clinical Biochemistry, Institute of Medicine, Kathmandu, TribhuwanUniversity, Nepal.As a result, comments were sent to JNHRC, and are published below.

Role of USG guided FNAC in diagnosis of abdominal and thoracic lesions.

A prospective study was carried out during 2010 - 2012 in which a total of 194 patients underwent USG guided FNAC from lesions in deep seated thoracic and abdominal organs. These included liver, lungs, intra-abdominal lymphnodes, gall bladder, ovary and adnexa, pancreas, stomach, omentum, other mass of unknown origin in peritoneal cavity, mediastinum, kidney, colon, small intestine, pleura, appendix and adrenal gland. Of these, FNAC was diagnostic in 168 (86.7%) cases, in 15 (7.7%) cases it was not conclusive. In next 6 (3.1%) it was suspicious of malignancy and the smears were acellular and /or contained blood only in 5 (2.6%) cases. Of all diagnosed cases, 153 (78.9%) cases were malignant, 28 (14.4%) were non-noplastic which included inflammatory, infective and granulomatous lesions and 13 (6.7 %) were benign neoplastic lesions. In liver, metastatic adenocarcinoma was the most common FNAC diagnosis, in lungs non-small cell carcinoma. The aim of this study was to evaluate the overall role of USG guided FNAC in diagnosis of abdominal and thoracic lesions.

Deep-seated thoracic and abdominal lesions: usefulness of ultrasound guided fine needle aspiration cytology, a 3 year experience.

Three hundred twenty patients were subjected to ultrasound guided fine needle aspiration cytology (FNAC) over a 3 year period (April 2006 - March 2009). These included liver (125 cases), lung (81 cases), abdominal and mediastinal lymph nodes (29 cases), ovary (14 cases), omentum (12 cases), pancreas (10 cases), kidney (10 cases), mediastinum (8 cases), gall bladder (8 cases) etc. The aim of this study was to evaluate the overall utility of ultrasonographic guided FNAC in the diagnosis of abdominal and thoracic lesions. In 264 cases (82.5%), FNAC was diagnostic with commonest diagnosis being malignant neoplasm (70.0%). 14 cases (4.4%) were suspicious of malignancy and remaining 42 (13.1%) cases either didn't reveal diagnostic material or they were inconclusive. In liver, Metastatic adenocarcinoma is the commonest tumor, while in lung; the commonest lesion is non-small cell carcinoma. Benign neoplasm (3.1%) and non neoplastic lesion (9.4%) were also diagnosed by FNAC. Rare sites like oesophagus and duodenum were also aspirated. Complication rate was too low (0.9%) in this study. USG guided FNAC, in conjunction with clinico-radiological parameters are accurate and safe in diagnosing deep-seated mass lesions in the thorax and abdomen.

Retinoblastoma in a 37 years old man in Nepal: a case report.

Retinoblastoma is extremely rare in adults. We report a case of Retinoblastoma diagnosed by histopathology in an enucleated specimen of a 37 year old patient who presented with pain and diminished visual acuity with intraocular mass and serous detachment. CT head and orbit showed uniform hyperdense mass in nasal quadrant of left globe projecting into adjacent vitreous cavity. Chest X Ray and USG abdomen was unremarkable. Initially provisional diagnosis of amelanotic melanoma was made. In view of nil visual prognoses enucleation was done. Sections from the enucleated eyeball showed diffuse proliferation of tumour cells. These tumour cells were small sized with scanty cytoplasm, and oval and hyper chromatic nuclei. A diagnosis of poorly differentiated Retinoblastoma was made with TNM (AJCC) stage as T1NXMX. This paper highlights the delayed presentation of retinoblastoma in adult. Although retinoblastoma is rare in adult, we suggest keeping retinoblastoma in differential diagnosis of intraocular mass until proven histopathology report is available.

Testicular fine needle aspiration cytology in azoospermic males.

One hundred one azoospermic males were subjected to fine needle aspiration cytology (FNAC) of the testis and 11 of them underwent testicular biopsy as well. In 99 cases, the aspiration was adequate for classifying into different categories, which are as follows: Sertoli cell only syndrome (46), normal spermatogenesis (27), hypospermatogenesis (10), tubular/peritubular sclerosis (10) and maturation arrest (6). The percentage population of Sertoli cells and spermatogenetic cells and cell indices including spermatic index, Sertoli cell index and sperm-Sertoli cell index were calculated. In normal spermatogenesis, fine needle aspiration (FNA) smears showed upto 40.0% Sertoli cells and spermatozoa were the predominant spermatogenetic cell type. In Sertoli cell only syndrome, there were sheets of Sertoli cells that constituted 88.0-100.0%. Progressively increasing values of the Sertoli cell index and progressively decreasing values of the sperm-Sertoli index were seen in normal spermatogenesis, maturation arrest, hypospermatogenesis, tubular/peritubular sclerosis and Sertoli cell only syndrome. In this study, complete agreement between testicular FNAC and histology was noted. Pecentage cell counts and cell indices in testicular FNA and 100.0% cyto - histo correlation make the FNAC preferable to biopsy in assessing azoospermic males.

Cytological diagnosis of bancroftian filariasis in lesions clinically anticipated as neoplastic.

Filariasis is a common disabling parasitic disease in this region and cytological diagnosis is often not required. Cytology has important role in diagnosis of sub-clinical filariasis. Most cases of cytologically diagnosed filariasis are clinically unanticipated. Microfilaria, ova and fragments of adult worm of Wuchereria bancrofti, in exfoliative as well as aspiration cytology have been reported and are useful in cytological detection of bancroftian filariasis. Microfilaria is frequently detected in association with neoplasm, although the role in tumorogenesis is controversial. The objective of the study was to investigate importance of cytology in diagnosis of filariasis in lesions clinically anticipated to be of neoplastic and to review the cytomorphology of bancroftian filaria and its association with neoplasm. This is a retrospective study carried out in cytology department of Tribhuvan University Teaching Hospital. 14 cases of cytological specimen out of 4291 (0.3%) showed microfilaria; 12 cases were from FNAC from different sites and 2 cases were from pleural fluid. 2 cases showed ova in addition to microfilaria and one of them in addition showed fragment of adult worm. Microfilaria in 4 cases of FNAC and one case ofpleural fluid were associated with malignant cells.

Bone marrow examination in cases of pancytopenia.

This study was carried to identify the causes of pancytopenia and to find out the bone marrow morphology in cases of pancytopenia. It was a cross sectional study conducted over a period of two years in the Department of Pathology, Tribhuvan University Teaching Hospital. Bone marrow aspiration smears of patients fulfilling the criteria of pancytopenia were examined. The data obtained were analyzed using measures of central tendency. One hundred and forty eight cases underwent bone marrow aspiration and it constituted 15.74% of total cases. Mean age was 30 years (range, 1-79 years). 42 cases were children (28.37%). Male: female ratio was 1.5:1. The commonest cause was hypoplastic bone marrow seen in 43 cases (29%) followed by megaloblastic anemia in 35 cases (23.64%), and hematological malignancy in 32 cases (21.62%). Erythroid hyperplasia was seen in 29 cases (19.6%) and normal bone marrow was seen in 5 cases (3.38%). There was one case each of Niemann-Pick disease and metastatic neuroblastoma in children and chronic pure red cell aplasia and leishmaniasis in adults. Acute leukemia was the commonest hematological malignancy. In children, commonest finding was hypoplastic bone marrow (38.1%) while in adults megaloblastic anemia (30.18%) was commonest finding followed by hypoplastic anemia (25.47%). In present study bone marrow examination was able to establish diagnosis in 77% of cases. Hypoplastic marrow was the commonest diagnosis, followed by megaloblastic anemia, and hematological malignancies.

Diagnosis of subcutaneous cysticercosis in fine needle aspirates: a study of 10 cases.

The objective of this study is to document the value of Fine Needle Aspiration Cytology (FNAC) in the diagnosis of subcutaneous cysticercosis. Aspirates smears of 10 cases of subcutaneous swellings were studied over a period of 1 year between January 2004 and January 2005. The subcutaneous swellings were presented at different sites like cheek, neck, forearm, arm, chest wall and abdominal wall. In none of these cases was cysticercosis considered as diagnostic possibility. The characteristic cytomorphological features of parasitic tegument, parenchymatous portion, presence of epithelioid cells, giant cells and inflammatory cells in cytological smears help diagnose the cases of subcutaneous cysticercosis. Biopsy confirmation was possible in 5 cases, of which, two cases showed parenchymatous portion of the parasite. FNAC provides safe and rapid tool for diagnosis of subcutaneous cysticercosis. In endemic areas, cysticercosis should be considered one of the differential diagnosis of the subcutaneous swellings.

Histopathological analysis of hysterectomy specimens.

This was a retrospective study carried out on all hysterectomy specimens sent to Department of Pathology of Tribhuvan University Teaching Hospital, Kathmandu, Nepal from 1st September 2005 to 28th February 2006, to study the histopathological findings of these specimens. All informations used in the study were obtained from the records of Department of Pathology of the hospital. Out of 221 hysterectomy specimens received during the study period, 139 (62.9%) were total abdominal and 82 (37.1%) were vaginal hysterectomy specimens. Mean age of the patient was 53.4 years for vaginal hysterectomy group where as it was 37.6 years for total abdominal hysterectomy with unilateral salpingo-oophorectomy and 46.3 years for total abdominal hysterectomy with bilateral salpingo-oophorectomy group. Uterine prolapse was commonest indication of hysterectomy overall (37.1%) and accounted for 98.8% of vaginal hysterectomies. Other common indications of hysterectomy were uterine fibroid (24.9%), ovarian tumor (14.9%) and dysfunctional uterine bleeding (7.7%). Leimyoma was the most common pathology found in uterine corpus (27.1%). Chronic cervicitis in cervix, functional cysts in ovaries and paratubal cysts in fallopian tubes were most common histological findings. Ovarian neoplasms accounted for 18.3% of ovarian pathology. 38% specimens were unremarkable histopathologically. In Tribhuvan University Teaching Hospital, abdominal hysterectomies are more common than vaginal hysterectomies. Most vaginal hysterectomies are done for uterine prolapse and patients are older than those undergoing abdominal hysterectomies. Most abdominal hysterectomies are performed for uterine leiomyomas. Hysterectomy specimens may be unremarkable histopathologically, most of which are vaginal hysterectomies done for uterine prolapse.

Malignant teratoid medulloepithelioma in eye.

Malignant teratoid medulloepithelioma is an extremely rare tumor occurring in children younger than 5 years of age, arising from ciliary body epithelium or iris but few arise from optic nerve and retina. This report concerns a 5 years old boy who presented with pain, redness and protrusion of right eye. Histopathologically, the tumor was composed of epithelial and sarcomatoid component. The pseudostratified primitive appearing epithelial cells were arranged mainly in diffuse pattern, nests cords and tubules. At places, pseudo rosette and true rosette were seen. Mitoses were frequent consisting of 7-10/ HPF. The sarcomatoid component consisting of spindle shaped cells arranged in interlacing bundle were also seen. Mitoses counted 5-7/HPF. Massive areas of necrosis and hemorrhage along with calcification, focal area of mature cartilage were present. Vascular and optic nerve invasions were seen. This case of malignant teratoid medulloepithelioma is the second case diagnosed in TU Teaching Hospital within the period of 10 years and reported because of its rarity. The differentiations from other tumors of the orbit such as small cell tumor were discussed.