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Introduction Male breast cancer is uncommon and managed on the guidelines of female breast cancer due to tumor rarity. We sought to identify the incidence, clinicopathological features, and survival of all male breast cancer patients managed in our hospital. Methods A retrospective cross-sectional study was conducted at Aga Khan University Hospital (AKUH), Karachi, Pakistan, from January 1986 to December 2018. Demographic data, treatment records, and follow-up data of all male breast cancer patients who were treated at AKUH was reviewed. Results Thirty-eight out of 42 patients who presented over a period of 32 years were included. The mean age was 63 years. The most common tumor type and subtype were invasive ductal carcinoma (89.5%) and luminal A (73.7%), respectively. The majority (36.8%) of the patients presented at stage III. Among 30 (78.9%) patients who underwent surgery, mastectomy was performed in 30 (78.9%), upfront axillary clearance in 24 (63.2%), axillary sampling in five (15.1%) cases, and sentinel lymph node biopsy in one (2.6%) case. Neoadjuvant chemotherapy was given to 10 (26.3%) patients, and adjuvant chemotherapy to eight (21.1%) patients. Adjuvant hormonal treatment was administered to 22 (57.9%) patients, and 13 (34%) patients received adjuvant radiation to the chest wall. The five-year overall survival was 38.2% and the median survival was 36 months. The five-year disease-free survival (DFS) was found to be 33.7%. Conclusion Breast cancer in males presents at an advanced stage with poor survival. Multicenter studies are required to accurately identify incidence, prognostic factors, and outcomes in order to have a better understanding of its management.

Background Neo-adjuvant chemotherapy (NAC) is frequently administered in breast carcinoma patients. The clinical response to NAC guides further treatment. The pathological response is not only an independent prognostic factor, but it also guides further treatment and prognosis. Objectives The aim of our study was to find the degree of concordance between clinical and pathological response assessments after NAC in Invasive lobular Carcinoma (ILC) cases by using World Health Organization (WHO) criteria and different pathological systems, respectively. We also tried to identify any useful parameter of clinical assessment that could better correlate with pathologic assessment and provide a better estimation of residual tumor. Methods This retrospective study was conducted on 26 ILC tumors diagnosed in 24 patients who were treated with NAC followed by surgical resection between January 2009 and December 2020. Medical records and microscopy glass slides were reviewed for clinical and pathological response assessments, respectively. Results The pre-treatment tumor area ranged from 1.8-255 cm2 and the mean±SD was 52.2±66.8 cm2. After NAC, complete clinical response was observed in four (15.3%) cases. The clinically assessed mean tumor area significantly reduced from 52.2±66.8 cm2 to 17.2±22.6 cm2 (p-value

Primary central nervous system lymphoma (PCNSL) is a rare type of non-Hodgkin's lymphoma. It is defined as lymphoma of the central nervous system without any systemic disease elsewhere at the time of diagnosis. Based on the phenotypical features, it is divided into two categories, B-cell and T-cell, with the latter being less common. Viruses, such as human immunodeficiency virus (HIV) and human T-lymphotropic virus type 1 (HTLV-1), are linked to the T-cell variant; however, there is a lack of evidence suggesting associating hepatitis B and D virus coinfection with it. We report a case of a 34-year-old male who presented with T-cell PCNSL and was later diagnosed with a hepatitis B and D virus coinfection.

Malignant eccrine spiradenoma (MES) is an exceedingly rare skin adnexal tumor that arises from pre-existing benign eccrine spiradenoma (BES). MES tumors show a wide spectrum of morphological features, posing a diagnostic challenge to the pathologist. Sarcomatous (heterologous) elements are seen in a few of these tumors, further complicating the morphological picture. We herein describe a case of a 66-year-old male who presented with a recently enlarging, ulcerated, nodular skin lesion over the right leg that had been present for the last 25 years. The patient underwent wide local excision of the tumor. Microscopic examination revealed a neoplastic lesion comprising benign and malignant components. The carcinomatous component showed features of infiltrating adenocarcinoma, not otherwise specified, whereas the sarcomatous component showed predominant osteosarcomatous and focal chondrosarcomatous differentiation. The benign component showed morphological and immunohistochemical features of BES. No adjuvant treatment was administered. The patient was alive and disease-free for 14 months, after which he was lost to follow-up. Careful identification and knowledge related to histological diversity are keys to the correct diagnosis of this rare tumor. MESs are potentially aggressive tumors, and therefore, close long-term follow-up should be maintained.

Background Papillary lesions of the breast constitute a heterogeneous group ranging from non-malignant papillomas to papillary carcinoma. While surgical excision is recommended for atypical papilloma or papillary DCIS/ carcinoma on core biopsy, controversy persists in the management of benign papillomas which are diagnosed with core needle biopsy (CNB) since there are variable reported rates for tumor upgrade. The purpose of this study was to determine the outcome of papillary lesions of the breast diagnosed at image-guided CNB, after surgical excision or follow-up, and to identify potential predictors of high-risk lesions/malignancy on imaging. Materials and methods We retrospectively identified 52 non-malignant papillary lesions on core biopsy between January 2012 and June 2018. The outcome of surgical excision, as well as clinical and imaging features of these lesions, were assessed. The final histologic upgrade was recorded, and variables were compared between benign and atypical lesions on core biopsy as well as between upgraded and non-upgraded lesions after surgical excision. Results Thirty-six lesions out of 52 lesions were benign papillomas on core biopsy, while 16 were papillary lesions with ADH/DCIS. All of these lesions except four benign papillomas were excised. Of the 32 benign papillomas excised, 7 were upgraded to papilloma with ADH/DCIS and one to DCIS with the focus of invasion. Among the 16 atypical lesions excised, one was upgraded to papillary DCIS with a final upgrade rate of 17.3%. There was no statistically significant clinical or imaging feature among those that were upgraded on excision from those that were not upgraded. Conclusion Non-malignant papillary lesions have a significant upgrade rate. There are no reliable clinical or imaging features that can pre-surgically predict upgrade. Therefore, surgical excision of all papillary lesions is recommended for definitive diagnosis.

Gonadoblastoma is a rare ovarian neoplasm which belongs to “germ cell-sex cord-stromal tumor” category. This tumor is frequently associated with invasive germ cell malignancy. It commonly arises in dysgenetic gonads of young individuals who are phenotypically females but possess 46XY karyotype. It has been rarely reported in females with normal phenotype and genotype. We herein describe a case of 10-year-old female who presented with abdominal pain, abdominal distention and fever. CT scan of the abdomen and pelvis revealed bilateral ovarian masses, ascites and pelvic and para-aortic lymphadenopathy. Serum lactate dehydrogenase levels were also elevated. She underwent left salpingo-oophorectomy, right ovarian biopsy, omentectomy and para-aortic lymphadenopathy. Microscopically, tumor showed in situ and invasive components. In situ component was arranged in nests and lobules formed by immature sertoli cells forming acini and encircling large polygonal primitive germ cells. Immature sertoli cells were positive for immunohitochemical (IHC) stains cytokeratin AE1/AE3, inhibin and calretinin, while germ cells were positive for SALL4, Oct 3/4, placental alkaline phosphatase (PLAP) and CD117. Invasive component was arranged in sheets of large-sized, polygonal-shaped primitive germ cells which were also positive for SALL4, Oct 3/4, PLAP and CD117 IHC stains. Hence, the diagnosis of “gonadoblastoma with dysgerminoma” was made. The tumor was limited to both ovaries. Cytogenetic analysis of peripheral blood revealed normal female 46XX karyotype. The patient received two cycles of adjuvant chemotherapy and was then lost to follow-up. We conclude that gonadoblastoma, although rare, should be considered as a differential diagnosis in ovarian tumors of young females. Invasive germ cell component should always be carefully searched for as it guides about treatment and predicts prognosis.

Nipple adenoma (NA) is a rare benign breast neoplasm that seldom co-exists with breast carcinoma (BC). Majority of these BC are separate from NA, and their origin from NA is an extremely rare event. We herein describe a case of 65-year-old female who had a painless lump for 15 years which increased in size and ulcerated for last six months. Microscopic examination of the wedge biopsy of nipple showed features of NA at superficial aspect and invasive carcinoma from it at the deeper aspect. The patient underwent mastectomy and axillary clearance, which revealed a 4-cm invasive breast carcinoma, no special type with axillary lymph node involvement. The patient received adjuvant chemotherapy, radiotherapy and adjuvant hormonal therapy. The patient is alive and disease-free after 36 months. NA should be carefully evaluated for co-existent BC because it completely changes the treatment plan and prognosis.

Pseudoangiomatous stromal hyperplasia (PASH) is a benign mesenchymal proliferative lesion of the breast, often an incidental finding on breast biopsy specimens and rarely presents as a palpable lump. The case being reported is interesting as a lactating female presented with gross left breast enlargement due to a huge firm mass with skin thickening and palpable left axillary lymph nodes. A provisional diagnosis of left breast malignancy was made and the patient extensively worked up with ultrasound, CT scan, bone scan and core biopsy. The histopathology, however, revealed PASH of the breast. There was no invasive or in situ malignancy. The patient was successfully managed conservatively.

Papillary urothelial carcinoma (PUC) is the most common malignant tumor of the urinary bladder. Urothelial tumors are notorious for frequent recurrences and follow a chronic relapsing course in most of the patients. In Pakistan, the incidence of PUC is showing a rising trend. Various immunohistochemical (IHC) markers including androgens have been studied as prognostic and predictive markers in PUC with conflicting results. Androgen is a steroid-based sex hormone and plays an important role in different body organs such as urinary bladder, prostate, muscles, and brain. We aimed to investigate the role of the IHC expression of androgen receptor (AR) as a predictor of recurrence in papillary urothelial carcinoma patients. Eighty-four patients were included in the study. Tissues from the biopsy specimens of these cases were stained with antibodies against AR; 17% of the cases demonstrated a positive AR IHC expression. The expression was slightly more common in low-grade carcinoma. The AR expression was not significantly associated with clinicopathological features. Recurrence was observed in 49% of the cases, and it was significantly more common in AR-negative cases (p-value: 0.025). Eighteen out of 19 patients who died of disease were AR- negative, but no statistical significance was observed. We conclude that the IHC expression of AR can be used as a predictive marker for PUC as it correlates with the recurrence rate.

Objective The status of axillary lymph nodes is one of the most important prognostic factors in patients with breast cancer. A precise noninvasive evaluation of axillary lymph node status preoperatively, although challenging, is vital for optimization of the treatment plan for patients. The objective of our study was to assess the utility of ultrasound and mammography in detecting the absence of axillary lymph nodal metastasis in patients of breast cancer, taking histopathology as gold standard. Methods A cross-sectional study was conducted in the Department of Radiology, Aga Khan University Hospital, Karachi. All female patients between 20 and 95 years of age with a known diagnosis of breast cancer with mammographic and ultrasound imaging done at our institute were included. Patients with abnormal lymph nodes on mammography or on ultrasound, patients already operated for breast cancer, patients who already underwent axillary lymph node dissection and those whose histopathology reports were not available or who did not undergo surgery were excluded. Results A total of 262 women with breast carcinoma who had both ultrasound and mammography done and also had surgery performed at our institution were included. At final surgical pathology, a total of 45 of the 262 patients (17.2%) with breast carcinoma had one or more positive lymph nodes. Out of the total 262 patients, 217 patients were found to be true negatives as they had absent axillary nodal metastasis on imaging as well as on histopathology. In all, 45 out of 262 patients were found to be false negatives as they had absent axillary nodal metastasis on imaging; however, they were found to be positive for metastasis on histopathology. The negative predictive value was 82.8%. Patient age was considered as a factor that may influence the outcome of results; the patients were stratified into age ranges seven groups with the age range of 10 years, ranging from 26 to 95 years. Chi-square test showed a p-value of 0.148, which showed no significant difference in the effect of age on diagnosing the absence of metastasis by ultrasound and mammography. Conclusion Our study shows that ultrasound and mammography even when used in combination cannot safely exclude axillary metastasis and thus cannot eliminate the need for sentinel node biopsy.

Background Soft-tissue sarcomas comprise a diverse group of sarcomas with characteristic histologic features. However, histology alone is not adequate for a definitive diagnosis for many tumors. In such cases, immunohistochemistry (IHC) plays a key role in determining the line of differentiation and exact characterization. Transducer-like enhancer of split 1 (TLE1) has been recently described as a novel marker for synovial sarcoma (SS). Its high sensitivity and specificity make it a potential marker that distinguishes SS from histologic mimics such as malignant peripheral nerve sheath tumor (MPNST), Ewing's sarcoma (ES), and fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP). The objective of our study was to assess the frequency of TLE1 immunohistochemical expression on SS cases of various subtypes. Methods This cross-sectional study was conducted at the Department of Histopathology, Aga Khan University, Karachi, Pakistan from February 3, 2018 to February 10, 2019. Tissue samples of 89 SS cases were selected for this study. Tumor sections were stained with hematoxylin and eosin (H&E), cytokeratin AEI/AE3 (CKAE1/AE3), epithelial membrane antigen (EMA), and TLE1 immunohistochemical stain. TLE1 expression was assessed based on the Remmele scoring system. Results Tissue samples of 89 SS cases were processed for the study. Mean (±) standard deviation (SD) of age was 25 (±7.36) years. Male:female ratio was 1.1:1. Of the 89 SS cases, 42 (47.2%) were monophasic, six (6.7%) were biphasic, and 41 (46.1%) were poorly differentiated. All the 89 cases showed positivity for TLE1 immunostain: 86 (96.6%) cases showed strong positivity, one (1.1%) case showed moderate expression, and two (2.2%) showed weak positivity. Conclusion This study shows that TLE1 is a highly sensitive immunostain for SS irrespective of the histologic type. However, it may show weak-to-moderate staining in poorly differentiated types. No statistically significant association was seen with respect to age group, gender, or type of SS.

Introduction Post-treatment Quality of Life (QOL) is considered an important outcome in cancer patients. A number of questionnaire tools have been designed for its assessment. University of Washington Quality of Life (UW QOL) questionnaire version four is a reliable tool for assessment of post-treatment QOL in oral squamous cell carcinoma (OSCC) patients. Our aim was to identify the post-treatment problems faced by OSCC patients and to assess the impact of clinical factors affecting post-treatment QOL by using UW QOL (version four) questionnaire. Methods The study was conducted on 59 patients with OSCC who were treated with curative intent at Patel Hospital, Karachi from August 2015 to September 2015. Patients were asked to fill the UW QOL questionnaire (version four) on their follow-up visit. Results Overall mean composite QOL score was 66.59 ± 16.98. Chewing and saliva (dryness of mouth) had the lowest scores (38.98 ± 37.2 and 56.78 ± 41.4, respectively) among all domains while pain and anxiety had the highest scores (80.93 ± 20.4 and 79.66 ± 29.8, respectively). Patients having tumors of the tongue, late stage (III and IV) tumors, and restricted mouth opening had significantly lower mean composite QOL scores. Patients with tongue tumors revealed significantly lower scores for pain, swallowing, mood, and anxiety. Patients with late-stage tumors showed significantly lower scores for chewing, swallowing, taste, saliva, appearance, anxiety, and recreation. Patients with restricted mouth opening had significantly lower scores for pain, speech, appearance, recreation, and anxiety domains. Conclusion Different clinical features have different impacts on QOL in terms of problems faced by the patients. Features having a significant effect should be identified, and measures focused on most relevant problems should be employed in order to improve the post-treatment QOL.

Primary spinal cord glioblastoma multiforme involving the conus medullaris is an uncommon entity with poor outcomes. An aggressive multimodality treatment approach has been used, but prognosis remains same. There are no guidelines for the treatment of patients with spinal glioblastoma multiforme (GBM). We highlight the case of a child diagnosed with conal GBM. He was treated with definitive surgery followed by adjuvant concurrent chemoradiation. After completion of treatment, he showed a temporary symptomatic improvement, but later on his condition deteriorated. We elaborate the stepwise treatment approach employed in this patient.

We present a rare case of histologically proven neurofibromatosis of the liver, hepatic hilum, retroperitoneum, and mesentery. An adult male who had been diagnosed with neurofibromatosis (NF) type 1 underwent a computed tomography (CT) scan for abdominal pain and vomiting. The CT scan showed a large low-attenuating lesion in the region of porta hepatis which was infiltrating along portal tracts into the liver, encasing the major vessels, and extending into the retroperitoneum and mesentery. Based on the radiological findings, a differential diagnosis of plexiform neurofibroma was given, although sarcomatous transformation could not have been entirely excluded from imaging alone. The tumor was subsequently biopsied, and the histopathological analysis confirmed the diagnosis of neurofibroma. This case highlights the importance and diagnostic dilemmas in the presence of this tumor at atypical locations in this disease spectrum.