Pilomatrix Carcinoma In A 4-Year-Old Child With An Unusual Presentation.

Pilomatrix carcinoma is a rare, locally aggressive variant of pilomatrixoma with a high rate of recurrence and risk of distant metastasis. We report an unusual presentation of a pilomatrix carcinoma in a 4-year-old male child who presented with recurrent lesions on his left cheek. At the age of 1 month of life, he presented with a soft tissue swelling on his left cheek. The lesion showed a circumscribed proliferation of basaloid cells with central areas of eosinophilic ghost shadow cells and intermediate cells. Basaloid nests showed round to oval, hyperchromatic nuclei with open nuclear chromatin, prominent nucleoli and frequent mitoses but no marked nuclear pleomorphism or infiltration was identified. The lesion recurred twice at the same site. Both recurrences showed similar morphology as the primary tumour however there were extensive areas of stromal necrosis, infiltrating edges, frequent mitoses with atypical forms, and lymphovascular invasion. There was no marked nuclear pleomorphism. Morphological features favoured a diagnosis of pilomatrix carcinoma. The child is still on follow-up and no recurrence has been identified to date. Pilomatric carcinoma is rarely reported in infants. Due to its rarity, aggressive histological features may be missed.

Extramedullary hematopoiesis in an inguinal lymph node: an unusual presentation of primary myelofibrosis.

BACKGROUND: Extramedullary hematopoiesis (EMH) is a proliferation of hematopoietic tissue outside of the bone marrow medullary space. It is a pathophysiologic response, more often associated with either a benign reactive hematological disease or a myeloproliferative neoplasm (MPN). Identification of EMH in adults is always pathologic. It is highly unlikely for a myeloproliferative neoplasm to present with inguinal lymphadenopathy. An unusual and complex case can be precisely diagnosed via a multidisciplinary approach involving experts from various modalities of laboratory. In this regard, the present case highlights the importance of an integrated approach in establishing the diagnosis. CASE PRESENTATION: We report a case of a 61-year-old male patient of primary myelofibrosis who presented with extramedullary hematopoiesis in an inguinal lymph node. The patient initially presented with generalized symptoms including anemia, fatigue, abdominal pain, and weight loss. On examination, massive splenomegaly. Chest X-ray revealed consolidation which was secondary to right-sided pleural effusion. Therefore, he was suspected to have a lung carcinoma. However, lymph node biopsy revealed extensive fibrosis, consequently effacing the nodal architecture. An abnormal blood picture raised the possibility of bone marrow infiltration. Extensive panel of markers is tested on lymph node and bone trephine. Cytogenetic studies with G-banding analysis and fluorescence in situ hybridization (FISH) played a significant role in deriving clinical decision. Translocations identified in conventional cytogenetic workup led to the diagnosis of primary myelofibrosis. The case is being reported due to unusual presentation of PMF. CONCLUSION: In conclusion, it is a distinctive case of myeloproliferative disorder initially presented with extramedullary hematopoiesis and through multidisciplinary workup successfully diagnosed as primary myelofibrosis. Awareness of unique clinical presentations and integrated approach towards diagnosis is the key to such challenging cases.

Cytological features of a complete hydatidiform mole in a cervicovaginal smear: A case report.

Exfoliated trophoblastic cells can be seen in a cervicovaginal smear in cases of normal pregnancy or gestational trophoblastic disease (GTD) and can mimic high-grade squamous intraepithelial lesion (HSIL) or malignancy. Although they appear highly anaplastic, cytological features such as high nuclear to cytoplasmic ratio, irregular nuclear contours and scanty basophilic cytoplasm admixed with cytologically benign squamoid and endocervical cells can aid in differentiating them from malignant cells. We present a case of a 37-year-old woman with abnormal uterine bleeding for 3-months. There was no history of recent pregnancy or previous GTD. Her cervicovaginal smear showed a hypercellular smear exhibiting cytologically benign superficial and intermediate squamous cells along with clusters of benign endocervical cells with interspersed mononucleate cells. These mononucleate cells were large, with a hyperchromatic, pleomorphic nuclei, and scant basophilic cytoplasm. Cytological features were suggestive of trophoblastic cells and workup for pregnancy and GTD was advised. Her laboratory investigations showed markedly raised levels of ß human chorionic gonadotropins (ß-HCG) and ultrasound showed a uterine mass with snowstorm appearance. A uterine evacuation was performed after which histopathological examination showed microscopic features consistent with a complete hydatidiform mole. The rare presence of trophoblastic cells in a cervicovaginal smear can easily be confused with malignant cells and can be misleading to the pathologist. Trophoblastic cells should always be kept in mind when evaluating a cytology smear of a young patient irrespective of gestational status.

Gastroenteropancreatic neuroendocrine tumours: Clinicopathological evaluation at Shifa International Hospital, Islamabad.

OBJECTIVE: Clinicopathological features of gastroenteropancreatic neuroendocrine tumours (GEP-NETs) have rarely been studied in Pakistani population. We investigated clinical characteristics of these tumours according to updated World Health Organization (WHO) 2010 classification. METHODS: The data of Shifa International Hospital, Islamabad was retrospectively analysed for pathologically confirmed GEP-NETs from January 2013 to March 2018. RESULTS: One hundred and eighteen patients (mean age, 52.2± 16.4 years; Of these 65(55.1%) were males. Majority, 98(83.1%) of the patients were symptomatic including 6(5.1%) with functional tumours. Pancreas was the most frequent primary site noted in 33(28%) patients. The most common histologic type was well differentiated neuroendocrine tumour (WDNET) in 96(81.4%) patients followed by neuroendocrine carcinoma (NEC) in 11(16.1%) patients. Almost half the cases or 54(45.8%) of WDNET were grade 1, 32 (27.1%) were grade 2, and 10 (8.5%) were grade 3. Distant metastasis at the time of diagnosis was found in 18(15.3%) cases with 14,(77.7%) in liver as the most common metastatic site. Synaptophysin positivity was seen in 60 (96.8%) cases of grade 1, 32(27.2%) of grade 2 WDNET, 8(100%) cases of grade 3 WDNET and 12(92.3%) of NEC and chromogranin was positive in 49(94.2%) of grade 1 and grade 2 WDNET, 5 (83.3%) cases of grade 3 WDNET and 5 (45.4%) cases of NEC. CONCLUSIONS: GEP-NETs showed a wide clinicopathological spectrum. Pancreas is the most common site of involvement by the GEP-NET, however, grade 3 WDNET had a predilection for colon. Small cell carcinoma was commonly observed in the oesophagus.

Association of postexercise heart rate recovery with body composition in healthy male adults: Findings from Pakistan.

BACKGROUND: This study investigated the effect of body mass index (BMI) and body fat ratio with postexercise heart rate recovery (HRR) after 2 minutes of rest. METHODS: Sixty-four healthy males aged between 25 and 55 years participated in the study. BMI, body fat ratio, waist circumference, and physical activity were recorded. Peak heart rate after exercise and HRR after 2 min of rest were obtained. RESULTS: Mean age of participants was 35.53 ± 6.57. Mean BMI and HRR were 25.06 ± 4.62 and 26.07 ± 7.43, respectively. BMI and body fat ratio had significant negative correlation with HRR with r values of -.833 and -.877, respectively (p < .001*). Linear regression showed BMI and body fat ratio with significant coefficient of -0.426 (p = .04*) and -0.627 (p < .001*) with HRR, respectively. Participants with BMI Ë‚ 25 had higher HRR in comparison to participants with BMI ≥ 25 (p < .001*). Participants with body fat ratio of ˂25 had significantly higher HRR of 35.9 ± 3.98 in comparison to participants with body fat ratio ≥ 25 (p = <.001*). CONCLUSION: Body mass index and body fat ratio are strong predictors of HRR in Pakistani healthy male adults, suggesting a strong link between metabolic risk factors and impaired autonomic nervous system.

Diagnostic accuracy of fine needle aspiration biopsy in pediatric small round cell tumors.

OBJECTIVE: Fine needle aspiration biospy (FNAB) is a simple, cost effective procedure, which can be carried out in the out-patient department. The objective of our study was to determine the diagnostic accuracy of fine needle aspiration biopsy in small round cell tumors of childhood, keeping histopathology as the gold standard. RESULTS: Out of these 50 cases, 35 (70%) were small round cell tumors and 15 (30%) cases of other childhood malignancies and certain reactive conditions. In our study, the most common malignant small round cell tumor (SRCT) on histopathology was Wilms tumor (10 cases) followed by non Hodgkin lymphoma (9 cases). FNAB results were correlated with the histological findings and the diagnostic accuracy of SRCT came out to be 98%. The sensitivity and specificity of FNAB in diagnosing SRCT was 97% and 100% respectively. FNAB was found to be a very useful technique in the initial evaluation of any palpable lesion of childhood. Although the small round cell tumors appear cytologically similar, in the hands of experienced cytopathologists, the subtle morphological features can help towards the final diagnosis. In addition, clinical and radiological findings are invaluable assets, which help to reach the final diagnosis.

Diagnostic accuracy of touch imprint cytology for head and neck malignancies: a useful intra-operative tool in resource limited countries.

BACKGROUND: Intraoperative consultation is an important tool for the evaluation of the upper aerodigestive tract (UAT) malignancies. Although frozen section analysis is a preferred method of intra-operative consultation, however in resource limited countries like Pakistan, this facility is not available in most institutes; therefore, we aimed to evaluate the diagnostic accuracy of touch imprint cytology for UAT malignancies using histopathology of the same tissue as gold standard. METHODS: The study involved 70 cases of UAT lesions operated during the study period. Intraoperatively, after obtaining the fresh biopsy specimen and prior to placing them in fixative, each specimen was imprinted on 4-6 glass slides, fixed immediately in 95% alcohol and stained with Hematoxylin and Eosin stain. After completion of the cytological procedure, the surgical biopsy specimen was processed. The slides of both touch Imprint cytology and histopathology were examined by two consultant histopathologists. RESULTS: The result of touch imprint cytology showed that touch imprint cytology was diagnostic in 68 cases (97.1%), 55 (78.6%) being malignant, 2 cases (2.9%) were suspicious for malignancy, 11 cases (15.7%) were negative for malignancy while 2 cases (2.9%) were false negative. Amongst the 70 cases, 55 cases (78.6%) were malignant showing squamous cell carcinoma in 49 cases (70%), adenoid cystic carcinoma in 2 cases (2.9%), non-Hodgkin lymphoma 2 cases (2.9%), Mucoepidermoid carcinoma 1 case (1.4%), spindle cell sarcoma in 1 case (1.4%). Two cases (2.9%) were suspicious of malignancy showing atypical squamoid cells on touch imprint cytology, while 13 cases (18.6%) were negative for malignancy, which also included 2 false negative cases. The overall diagnostic accuracy of touch imprint cytology came out to be 96.7% with a sensitivity and specificity of 96 and 100%, respectively while PPV and NPV of touch imprint cytology was found to be 100 and 84%, respectively. CONCLUSION: Our experience in this study has demonstrated that touch imprint cytology provides reliable specific diagnoses and can be used as an adjunct to histopathology, particularly in developing countries, where the facility of frozen section is often not available, since a rapid preliminary diagnosis may help in the surgical management planning.