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.

Intraosseous Schwannoma of fibula: A case report.

Schwannoma, also called neurilemomma is a benign neoplasm. It originates from Schwann cells which are involved in myelination of peripheral nerves and commonly occur in the soft tissues of the head and neck. Intraosseous schwannoma is rare and accounts for only 0.2% of overall primary bone tumours. Merely 200 cases have been reported in the literature. Intraosseous schwannoma of long bones is even rarer, amounting for only 20 cases reported. We present a case of intraosseous Schwannoma in the distal shaft of the fibula, in an 18-year-old female patient who presented with pain in the right leg for 2 years. MRI showed a lytic lesion, with a differential diagnosis of aneurysmal bone cyst. The tumour was excised and on histopathological examination, a diagnosis of intraosseous schwannoma was made.

Tibial Plasmablastic Lymphoma in a HIV-Negative Child: A Novel Extraoral Localisation.

Plasmablastic lymphoma is an aggressive, high-grade non-Hodgkin lymphoma predominantly seen in HIV-infected individuals. Alongside a strong correlation with HIV, PBL can manifest in immunocompromised HIV-negative patients. A rare case of PBL in an immunocompetent and otherwise healthy child presented to Indus Hospital & Health Network (IHHN), Karachi, Pakistan. The patient had complaints of swelling and pain in the right leg and was referred from a city in Interior Sindh. Histopathological analysis revealed sheets and aggregates of neoplasm replacing bone marrow interspersed with sclerotic bony fragments. Large, monomorphic, multinucleated neoplastic cells containing abundant cytoplasm and scattered pleomorphic cells were also noted, leading to the diagnosis of tibial plasmablastic lymphoma. A FAB/LMB96 group C chemotherapy regimen for aggressive and high-risk cancer was administered with a marked improvement in clinical symptoms.

High risk histopathological factors in retinoblastoma in upfront enucleated eyes: An experience from a tertiary care centre of Pakistan.

Background & Objectives: The assessment of histopathological risk factors (HRFs) in retinoblastoma in upfront enucleated eyes is important in deciding treatment protocols. Limited data is available from the developing countries as very few studies were conducted on retinoblastoma. The study aims to report this data from Pakistan. Methods: This cross-sectional study included treatment naïve retinoblastoma patients who underwent upfront enucleation between 2017 to 2021. Various tumor characteristics i.e. laterality, size, histologic grade, anaplasia grade, growth pattern, extent and length of optic nerve invasion, pathologic staging, tumor involvement of ocular structures were assessed. High-risk factors such as involvement of anterior chamber, choroidal, scleral, extrascleral, and optic nerve were also noted. Results: A total number of 54 patients were enrolled, out of which 53.7% were females while remaining were males. Median age at presentation was 24 months. Unilateral tumor was seen in 92.6% cases. Most frequent histologic grade was G2 (64.7%) and moderate anaplasia was observed in 59.2% cases. Vitreous involvement was seen in (86.5%). Pathologic staging of most of the tumors was pT1 (39.2%). Assessment of high-risk factors revealed that optic nerve involvement (35.1%) was the most common finding with retrolaminar tumor invasion seen in 75% cases. Choroidal invasion (≤3mm) was seen in 55.6% of patients. Limited involvement of anterior chamber (3.8%), sclera (7.4%), and extrascleral (3.8%) tissue was also observed. Conclusion: The presence of high risk histopathological factors in enucleated eyes diagnosed with retinoblastoma are known to have a profound impact on the risk stratification as well as decision of future treatment plan.

Chemotherapy induced histopathological changes in retinoblastoma, assessment of high risk predictive factors & its correlation with comorbid conditions.

Background & Objectives: Retinoblastoma is a malignant intraocular tumor and its treatment requires a multidisciplinary approach. Chemotherapy is an important modality in treatment of retinoblastoma. The purpose of this study was to assess the histopathological changes in retinoblastomas treated with chemotherapy along with correlation of comorbid conditions with high risk histopathological factors (HRF). Methods: All post-chemotherapy enucleated eye specimens received in the pathology department between 2017 to 2021 were included in the study. Slides were retrieved and reviewed for chemotherapeutic effects, tumor regression, and for assessment of HRF. Patient demographic data, information regarding chemotherapy and co-morbid conditions were retrieved through the hospital database. Chi-square was used to analyze the relation between comorbid conditions and HRF. Results: Chemotherapeutic effects were seen in all eyes with varying degrees of responses. Necrosis, calcification, and gliosis were the most common findings. The majority of eyes showed tumor occupying less than 50% of the eye whereas complete regression was noted in one eye only. Retinal detachment, glaucoma, and buphthalmos were the most common comorbid conditions at the time of diagnosis. Patients with glaucoma were more likely to have ciliary body invasion. Kaplan Meier analysis showed that patients with more than two HRF had decreased survival rates in comparison to those with one or no HRF. Conclusion: Histopathological evaluation of chemotherapy-treated eyes shows varying degrees of response to chemotherapy. Post enucleation histopathological evaluation of the globe plays an important role in assessing disease activity and guiding further treatment to prevent metastasis.

Myoepithelial Carcinoma arising in a background of pleomorphic adenoma.

Carcinoma ex pleomorphic adenoma is a neoplasm of the salivary gland that causes 3.6% of salivary gland tumours and 12% of salivary gland malignancies. It is a myoepithelial or epithelial neoplasm that arises from pleomorphic adenoma, whether primary or recurrent. Historically carcinoma ex pleomorphic adenoma is considered a high-grade malignancy. Salivary duct carcinoma and high-grade adenocarcinoma are the histologic types that most commonly arise in the background of Pleomorphic adenoma. However, 15% of tumours arising in Pleomorphic adenoma are considered low grade and have sluggish growth. Low-grade carcinoma ex pleomorphic adenoma can be difficult to differentiate from cellular pleomorphic adenoma. The case of a 56-year-old female patient who had neck swelling is being presented. The biopsy showed spindle cell component with mild atypia, invasion into surrounding tissue, and increased mitotic activity on the basis of which a diagnosis of Low-grade carcinoma ex pleomorphic adenoma developing in a background of pleomorphic adenoma was made. The morphological and immunohistochemical features confirmed the carcinoma component to be myoepithelial.

Expression of Epidermal Growth Factor Receptor in Colorectal Adenocarcinoma and its Correlation with Clinicopathological Factors.

OBJECTIVE: To identify the expression of epidermal growth factor receptor (EGFR) in colorectal cancer (CRC) and its relationship with clinicopathologic factors. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Laboratory and Blood Bank, King Abdul Aziz Specialist Hospital, Taif, Saudia Arabia, from January 2008 to June 2011. METHODOLOGY: Diagnosed cases of colorectal carcinoma reports and slides were reviewed and cilnicopathological features were recorded. EGFR immunohistochemical staining was performed. All slides were assessed by light microscopy and scored after assessing the percentage of cells staining (grade) and intensity of the staining. Colectomy specimens of colorectal carcinomas with complete clinical information and good fixation were included. Biopsies specimens diagnosed as colorectal adenocarcinomas were excluded. The studied characteristics included age, gender, clinical presentation, tumor site, tumor size, degree of histological differentiation (well, moderate, poor), vascular and perineural invasion. Statistical analysis was done by SPSS version14 and Chi-square test was used for comparing the histological factors with EGFR expression. RESULTS: Thirty-five colectomy specimens showed mean age of 61.5 ±12.36 years and male to female ratio 1:2 (35% and 65%, respectively). Expression of EGFR was detected in 74% of the studied specimens. There was strong expression in most of cases. EGFR expression was found in mostly grade II (85%) and stage T3 tumors (69%). CONCLUSION: Patients presented mostly with late stages of CRC and EGFR was expressed on tumor cells in the majority.

Invasive micropapillary carcinoma of breast: an under-recognized entity. a series of eight cases.

Invasive micropapillary carcinoma (IMPC) of breast is a morphologically distinct and relatively uncommon variant of invasive ductal carcinoma. It is characterized by small clusters of tumor cells with surrounding clear stromal spaces; a tendency for vascular permeation and therefore, an aggressive clinical course. This morphologic pattern can be easily missed especially in a small biopsy specimen because pathologists may disregard the clear spaces as artifactual. With a tendency of presenting at a higher stage, this morphological pattern needs to be mentioned in the histopathology report whenever it is encountered, either in its pure form or admixed with conventional ductal carcinoma. We describe eight cases of IMPC of breast along with their variable clinical presentations.

Oligodendroglioma arising in the glial component of ovarian teratomas: a series of six cases and review of literature.

AIMS: To report the exceedingly rare occurrence of oligodendroglioma in the glial component of ovarian teratomas. METHODS: Six cases of oligodendrogliomas arising in the glial component of ovarian teratomas were studied and the literature was reviewed. Immunohistochemistry was performed by the Flex technique. RESULTS: The ages of the patients ranged from 12 to 28 years (mean 21 years). Four tumours were located in the right and one in the left ovary. The size of the ovarian cysts ranged from 7 cm to 29 cm (mean 19.6 cm). Four cases arose in immature and two cases in mature teratomas. In all cases, oligodendroglioma was WHO grade II. On immunohistochemistry, glial fibrillary acidic protein stain was positive in all cases. The Mib 1 (Ki 67) proliferative index was low and the tumour cells were negative for synaptophysin. Follow-up was available in five patients and ranged from 1 to 42 months. Two patients died of disease after 1 and 36 months of diagnosis, respectively. In both these cases oligodendroglioma arose in an immature teratoma. The remaining three patients are alive with a follow-up of 4-42 months. CONCLUSIONS: Oligodendroglioma arising in the glial component of ovarian teratomas is exceedingly rare. Ovarian teratomas should be extensively sampled and carefully evaluated to rule out the possibility of a glial tumour. This is the single and largest series of oligodendrogliomas arising in ovarian teratomas. The prognosis is good for oligodendrogliomas arising in mature teratomas compared with those arising in immature teratomas, although long-term follow-up is needed to determine the exact behaviour.

Diagnostic accuracy of fine needle aspiration cytology in parotid lesions.

Objective. Histopathology of parotid gland tumors is extremely varied and complex due to heterogeneous cellular composition. Preoperative diagnostic tools include fine needle aspiration cytology, the role of which remains controversial. The aim of this paper is to evaluate the usefulness and accuracy of fine needle aspiration cytology (FNAC) in the diagnosis of parotid gland tumors. Methods. We retrospectively reviewed charts of 129 patients who underwent parotidectomy for parotid lesions at Aga Khan University Hospital from 2002 to 2010. We compared the results of preoperative FNAC with final histopathological diagnosis. Results. Concordance with histological results was observed in 86%, specificity was 98%, sensitivity was 84%, and diagnostic accuracy was 94%. Conclusion. Our results demonstrate that preoperative cytology in parotid lesions is fairly accurate and useful in diagnosing benign from malignant and in planning appropriate approach for treatment.

Malignant peripheral nerve sheath tumour of maxilla.

Malignant peripheral nerve sheath tumour (MPNST) is a very rare entity in head and neck with high rate of recurrences and local invasiveness. This tumour is usually found in lower extremities and only 10-12% occur in head and neck region. The diagnosis is considered as the most elusive and difficult among soft tissue sarcomas because of its non specific presentation, both clinically as well as pathologically. This difficulty has now been overcome by immunohistochemistry. We report here a case of MPNST in a 50 years old male with a localized right maxillary growth.

CNS neoplasms in Pakistan, a pathological perspective.

The Section of Histopathology, Aga Khan University is the largest center for histopathology in Pakistan and is the major reporting and referral center for CNS neoplasms in the country. Over the years, a significant increase has been noted in the number of CNS neoplasms reported annually. This increase most likely represents increased number of neurosurgical procedures being performed. A major problem that we face as histopathologists is absence of clinical history or radiological films in a large number of cases.

Atypical focal nodular hyperplasia of the liver.

BACKGROUND: Focal nodular hyperplasia, a benign hepatic tumor, is usually asymptomatic. However, rarely the entity can cause symptoms, mandating intervention. METHOD: We present a case of focal nodular hyperplasia of the liver, which caused a considerable diagnostic dilemma due to its atypical presentation. RESULTS: A 29-year-old woman presented with a 15-year history of a progressively increasing mass in the right upper quadrant which was associated with pain and emesis. Examination showed a firm, mobile mass palpable below the right subcostal margin. A computed tomography scan of the abdomen showed an exophytic mass arising from hepatic segments III and IVb. Trucut biopsy of the hepatic mass was equivocal. Angiography showed a vascular tumor that was supplied by a tortuous branch of the proper hepatic artery. Surgical intervention for removal of the mass was undertaken. Intra-operatively, two large discrete tumors were found and completely resected. Histopathological examination showed features consistent with focal nodular hyperplasia. CONCLUSION: This description of an unusual case of focal nodular hyperplasia of the liver highlights the point that the diagnosis of otherwise benign hepatic tumors may be difficult despite extensive work-up in some cases.

Nipple adenoma of breast: a masquerader of malignancy.

ABSTRACT Nipple adenoma is a benign condition simulating malignancy such as breast carcinoma and/or Paget's disease clinically. In this study 19 cases diagnosed as nipple adenoma over a period of 14 years are described. The diagnosis was confirmed by histology alone. All patients were females with age ranging from 23 to 63 years. Most of the cases presented clinically with in duration and ulceration accompanied by pain and itching. The diagnosis was clinically suspected in only 3 cases. This highlights the importance of histological diagnosis in all suspicious breast lesions. In one case, the clinical and histological diagnosis was incorrect leading to mastectomy. Complete local excision with clear margins is curative.

Prostatic carcinoma: a Pakistani perspective.

As in many countries of the world, prostatic adenocarcinoma is extremely common in Pakistan. In a study carried out in our section, it was the third commonest malignancy in males, comprising almost 7% of all malignant neoplasms. Furthermore, another investigation revealed it to be the commonest malignant neoplasm in males in the seventh and eight decades, comprising 15% and 25% of respectively of all malignant neoplasms in these age groups. Recent data extracted from radical prostatectomy specimens in our department have revealed that the majority of carcinomas are advanced (like most other cancers in our country) when they are first diagnosed or treated. The majority of cases in which radical prostatectomy was performed showed not only advanced stage (pT3a or pT3b) but also exhibited extra-prostatic extension and positive surgical margins. For a cancer which is so common in our population, the diagnostic and therapeutic modalities available are extremely limited.

Rapidly progressive cryptogenic organising pneumonia presenting as a lung mass.

A very rare case of a rapidly progressive variant of cryptogenic organising pneumonia (COP) presenting as a focal mass-like lesion with compression of the large airways leading to respiratory failure is described. A 60-year-old lady presented to the Aga Khan University Hospital Emergency Department in hypoxaemic respiratory failure with a 6-day history of dyspnoea, productive cough and fever. Chest x ray showed a right upper lobe mass-like lesion compressing the large airways and right pleural effusion. She deteriorated in the Emergency Department and was intubated due to worsening hypoxaemic respiratory failure. The pleural fluid and bronchoscopic specimens were negative on microbiological and cytological examination. CT-guided right lung biopsy revealed chronic non-specific inflammation without granuloma and malignancy. COP was diagnosed on video-assisted thoracoscopic (VATS) lung biopsy. She was successfully treated with high dose steroids and discharged in a stable condition; her 3-month follow-up chest x rays showed complete resolution of the lung lesion with some residual fibrosis.

Two cases of primary laryngeal amyloidosis.

The larynx is a rare site of involvement of amyloidosis. We report two cases of laryngeal amyloidosis. Both patients were middle aged females with history of persistent hoarseness. Fibreoptic laryngoscopy used for diagnosis in both and debulking of the tumour was performed. Histopathological examination confirmed the diagnosis of amyloidosis. Appropriate follow up is an important part of the long-term management of the disease.

Small B cell Non-Hodgkins Lymphoma in Pakistan.

OBJECTIVE: To study the pattern of small B cell lymphomas in Pakistan. METHODS: This descriptive study was carried out at the Aga Khan University Hospital pathology department including 1721 cases of Non-Hodgkins Lymphoma (NHL) diagnosed during a period of five years (1998-2002) and classified according to REAL/WHO classification. The antibodies used included Leukocyte Common Antigen (LCA), Pan B (CD20, CD79a), Pan T (UCHL-1), Bcl 2, Mib 1(Ki 67) and Cyclin D1 (Dako, Denmark). RESULTS: Out of the 1721 NHL cases, only 140 (8.1%) could be categorized as small B-cell NHL. The study group comprised small lymphocytic lymphoma/chronic lymphocytic leukemia (58 cases; 41.4%) followed by follicular lymphoma (46 cases; 32.9%), mantle cell lymphoma (15 cases; 10.7%), extra nodal marginal zone B cell lymphoma of MALT type (15 cases; 10.7%), lymphoplasmacytic lymphoma (5 cases; 3.6%) and splenic marginal zone B-cell lymphoma (1 case; 0.7%). No case of nodal marginal zone lymphoma was diagnosed. The age ranged from 18 to 98 years with a mean and median of 54.64 and 58.50 years respectively. Small B-cell NHL was more common in males; with male to female ratio of 2.1. Majority of the small B-cell NHL were nodal at presentation with a nodal to extranodal ratio of 3.4. CONCLUSION: It is concluded that the frequency of these small B-cell NHL is very low in our population in contrast to the western literature. Further studies based on epidemiologic and etiological factors are required to look into this marked difference of occurrence of these indolent lymphomas.

Ovarian primary neuroendocrine carcinoma of non-small cell type: report of an extremely rare neoplasm.

Paraffin block sections of a uterus and ovarian mass from a 31 year old female were sent for second opinion to the Pathology Laboratory of Aga Khan University. Histologic examination and immunohistochemical features gave a diagnosis of primary neuroendocrine carcinoma of non-small cell type admixed with benign mucinous cystadenoma. This is a rare tumour with only eight being reported in literature.