Androgen insensitivity syndrome: Can cytology help?

Androgen insensitivity syndrome (AIS) is described as a patient's clinical (phenotypical) presentation as a female with male karyotyping. Classically, patients are normal looking females with complaints of primary amenorrhea. The gonads may be found as extra-genital swellings; rarely, the testes may undergo malignant transformation. Thus, gonadectomy is indicated in these patients on attaining puberty. A rare and interesting case of clinically unsuspected AIS in a young female who presented with primary amenorrhea and inguinal swelling is reported. The initial diagnosis was suggested on fine needle aspiration cytology (FNAC) from the inguinal swelling that showed the presence of Sertoli cells. Further family history revealed two similar siblings; karyotyping and histopathology confirmed the diagnosis of AIS in the patient. This case highlights the importance of FNAC in early diagnosis and a multidisciplinary approach to confirm the diagnosis and help in appropriate management.

Axillary nodal metastasis of operated gallbladder carcinoma: remote site of aggression-a case report.

BACKGROUND: Gallbladder cancer is a very aggressive type of biliary tract cancer. The only curative treatment is complete surgical excision of the tumour. However, even after surgery, there is still a risk of recurrence of the cancer. CASE PRESENTATION: A 63-year-old gentleman presented with the complaint of a non-healing ulcer at upper abdomen for the last 1 month. He had undergone a laparoscopic cholecystectomy at a private centre 4 months ago. Investigations confirmed the diagnosis of epigastric port site metastasis from a primary from gall bladder adenocarcinoma. After undergoing completion radical cholecystectomy with wide local excision of the epigastric ulcer, he received 6 cycles of concurrent chemoradiotherapy. Eighteen months later, he presented to us with bilateral axillary swellings. Investigations confirmed isolated bilateral axillary metastasis and the patient underwent a bilateral axillary lymphadenectomy (Level 3). However, PET scan after 6 months showed widespread metastasis and the patient succumbed to the illness 1 month later. CONCLUSION: Axillary metastasis probably occurs due to the presence of microscopic systemic metastasis at the time of development of port site metastasis. An R0 resection of the malignancy is the only viable option for effective therapy. The present case highlights the rare involvement of isolated bilateral axillary lymph nodes as a distant metastatic site with no evidence of disease in the locoregional site. However, the prognosis after metastasis remains dismal despite multiple treatment modalities.

Perturbation of monocyte subsets in iron-deficient children - a shift to a pro-inflammatory state?

BACKGROUND: Iron deficiency anemia (IDA) is the most prevalent micronutrient deficiency in preschool children in developing countries including India. IDA is associated with immune perturbation, which is reflected in greater frequency of infections in these children. Recent research has shown three distinct monocyte subsets with distinct functions linked to infectious, inflammatory, and autoimmune diseases. These subsets have not been studied in children with IDA. OBJECTIVE: The aim of the study was to assess the percentage of monocyte population and the three subset populations in children with IDA and to compare the data with age-matched healthy controls. METHODS: Venous blood samples (5 mL) from 40 IDA children and 20 controls were collected after taking informed consent. Monocyte subpopulations were compared across the two groups. The outcome variables were calculated using Students Independent t-test or Mann-Whitney U test. P value of <0.05 was taken as significant. RESULTS: No significant difference was found in the absolute numbers as well as percentages of total monocytes between the control and case (study) group. Children in the IDA group showed a significant (p = 0.03) decrease in the nonclassical subset population when compared to the control group. CONCLUSION: This is the first study done on monocyte subsets in iron-deficient children. Decrease in nonclassical monocytes observed may be associated with a pro-inflammatory state and increased risk of inflammatory and auto immune diseases. Follow-up studies are needed to confirm these findings.

The expression of p16 and galectin-3 in cervical intraepithelial neoplasia (CIN) and squamous cell carcinoma (SCC) uterine cervix.

Cervical cancer is the most prevalent cancer among women in India. The main cause of cervical cancer is persistent human papilloma viral (HPV) infection. HPV inactivates the pRb tumour suppressor protein; thus p16 expression, which is controlled by a negative feedback mechanism, is relatively increased. Galectin-3 is directly and indirectly connected to cancer cell activity and contributes to oncogenesis, angiogenesis, cancer progression and metastasis. Thus, the aim of this study was to study the expression of p16 and galectin-3 in Cervical Intraepithelial Neoplasia (CIN) and Squamous Cell Carcinoma (SCC) and to correlate p16 and galectin-3 expression. On hundred and eighteen newly-diagnosed untreated cases of CIN and SCC of uterine cervix were included in the study. Expression of p16 and galectin 3 was more pronounced in invasive SCC and High-grade Intraepithelial Lesion (HSIL), as compared to Low-grade Intraepithelial Lesion (LSIL).Thus, it may be used in clinical setting to monitor cervical lesions and to predict their progression.Impact statementWhat is already known on this subject? p16 overexpression is a surrogate biomarker of HPV infection and useful in evaluating HPV-associated squamous and glandular neoplasia of the lower gynaecologic tract. Increased galectin-3 expression is seen in SCC cervical, with less consistent results in CIN.What do the results of this study add? The results of our study adds to the growing literature that p16 and galectin-3 expression have direct statistically significant correlation with a degree of dysplasia and SCC cervix. Expression of p16 and galectin-3 was more pronounced in invasive SCC and high-grade intraepithelial lesion (HSIL), as compared to low-grade intraepithelial lesion (LSIL).What are the implications of these findings for clinical practice and/or further research? This correction of p16 and galectin-3 expression with degree of dysplasia and SCC cervix can be used for screening and early detection of cervical lesions and thus aid their early treatment and increased survival.

Congenital Pulmonary Airway Malformation - A Histomorphological Spectrum of 15 Cases: A 5-Year Study from a Tertiary Care Center.

OBJECTIVE: Congenital pulmonary airway malformation (CPAM) is a rare developmental lung disease. The aim of this study is to analyze the histomorphological spectrum of CPAM in a series of 15 cases. MATERIALS AND METHODS: A retrospective descriptive study of 15 cases of CPAM was carried out from 2013 to 2018 in our hospital, and cases were classified based on the Stocker's classification. RESULTS: The age ranged from 4 days to 9 years (66.6% were infants). The left lung was most commonly involved (66.6%). The most common lobe was the left upper lobe (60%), followed by right lower lobe (20%). Grossly, cysts measured 0.2-5 cm, filled with mainly serous fluid with few having hemorrhagic and brownish mucoid secretions. On microscopy, single to multiple noncommunicating cysts of size 0.2-5 cm were seen, lined by ciliated columnar epithelium (60%), pseudostratified ciliated columnar epithelium (26.7%), mucin-secreting columnar epithelium (6.7%), and flattened epithelium (6.7%). Few cases showed smooth muscle (20%) and cartilage (13.3%) in the cyst wall. Chronic inflammation (73.3%) with dense histiocytic infiltrate (13.3%) was also seen. Emphysematous changes were also observed (13.3%). Cytomegalovirus inclusions (6.7%), zygomycete fungus (6.7%), and red hepatization (6.7%) were observed. The most common type was type II (60%), followed by type I (33.3%) and type IV (6.7%). CONCLUSION: Type II was the most common variant in this study. A careful observation should be done to look for fungal hyphae or viral inclusions.

Aggressive Osteoblastoma Involving the Navicular Bone of Foot: A Rare Tumor in a Unique Location.

Aggressive osteoblastoma (AO) is a rare variant of osteoblastoma characterized histologically by epithelioid osteoblasts and clinically by local recurrences if not excised completely. Aggressive osteoblastoma has been described in various unusual sites; however, based on our search of the literature, involvement of the tarsal navicular has not been previously described. Herein, we report what we believe to be the first case of aggressive osteoblastoma involving the tarsal navicular in a 35-year-old woman. The tumor showed osteoid surrounded by epithelioid cells along with numerous osteoclastic giant cells. Absence of necrosis, mitosis, and infiltration into the surrounding native bone helped rule out the possibility of low-grade osteosarcoma.

Direct immunofluorescence (DIF) versus immunohistochemical (IHC) staining of complements and immunoglobulins (Ig) in pemphigus group.

INTRODUCTION: Pemphigus is a group of bullous disorders of the skin characterized by the formation of autoantibodies present in the intercellular junction of the epidermis. Diagnosis is made by clinical, histopathological examination, and DIF. As DIF needs frozen sections, fluorescent tagged antibodies, UV light microscope for examination, and trained personnel, its non-availability makes a definitive diagnosis challenging. AIMS AND OBJECTIVES: To evaluate the utility of IHC staining of complements and Ig in cases of Pemphigus. MATERIALS AND METHODS: Twenty-six diagnosed cases of Pemphigus were stained by Peroxidase immunohistochemical method using monoclonal antibody to IgG, IgA, IgM, IgG4, C3, C4 d with DAB as chromogen. Pemphigus cases include twenty of pemphigus vulgaris (PV), four cases of pemphigus foliaceous (PF), and two of pemphigus vegetans (Pveg). Positivity was defined as the deposition of Ig and complements as distinct, continuous brown staining of keratinocytes at intercellular junctions. RESULT: On IHC total of 20 PV 17 showed positivity (85%) for IgG, 11 (55%) C4d, 19 (95%) C3d, and 16 (80%) IgG4 deposits at the intercellular junction of the epidermis. All cases of PF showed a deposit of IgG, with three (75%) cases for IgG4, C3d, and C4d. Both cases of Pveg showed positivity for IgG and C4d while one case was negative for IgG4 and C3d. The overall IgG, C3, IgG4, and C4d expression for pemphigus was seen in 88%, 88%, 76.9%, and 61.5% of cases. The relation between these markers, combination of IgG and C3, was best related to each other ( P value = 0.80). The sensitivities for IgG, IgG4, and C3 were 77.8%%, 73%, and 73% resp. CONCLUSION: We conclude that IHC is a useful tool in the diagnosis of PV with the highest sensitivity of IgG and C3d. The combination of IgG and C3d could replace the DIF in almost all of our cases, so IHC on FFPE sections be used as an alternative method to DIF.

Sebaceous carcinoma with apocrine differentiation arising in a known case of basal cell carcinoma: A rare entity.

Sebaceous carcinoma is a ra malignant tumor of adnexal origin arising from sebaceous glands. It is most commonly seen arising from the eyelids and head and neck. It is predominantly seen in females with an average age of around 65 years. Apocrine differentiation in sebaceous carcinomas is rare but has been reported in the literature. Here, we present a case of sebaceous carcinoma with apocrine differentiation in a 62-year- old female who was a diagnosed case of basal cell carinoma.

Pancreatic heterotropia in gallbladder with adenocarcinoma: A rare incidental finding.

ABSTRACT: Heterotopic pancreas is defined as the presence of aberrant pancreatic tissue present outside the pancreas without connection to its neural, vascular, and anatomic location. The commonly seen locations are stomach, duodenum, jejunum, Meckel commonly seen locatio, and ampulla of Vater. The gallbladder is an extremely rare site for pancreatic heterotropia. Its association with adenocarcinoma has not been described yet. A case of 50-year-old male with pancreatic heterotropia along with carcinoma gallbladder is being presented here.

Immature Teratoma of Ethmoid Sinus Masquerading as Antrochoanal Polyp: A Rare Case Report with Literature Review.

Teratomas are rare neoplasms that arise from totipotent stem cells. Teratomas of the head and neck are extremely rare, constituting about 10% of all cases and usually present in the neonatal period. Extensive literature search has shown that there are only two cases reportedof teratoma of the ethmoid sinus; one as a mature teratoma in a neonate and another was histologically immature teratoma in an adult male (Mwang'ombe et al. in East Afr Med J 79(2):106-107, 2002; Aggarwal et al. in J Postgrad Med 59(2):138-141, 2013). We hereby report the second case of immature teratoma of ethmoid sinus origin in an adult male.

Epithelial myoepithelial carcinoma: A case report.

ABSTRACT: Epithelial myoepithelial carcinoma is a rare tumor with the parotid gland being the most common primary site of origin. The tumor may also very rarely originate in minor salivary glands of the soft palate. Due to the rarity of its occurrence and histogenesis, clear-cut therapeutic guidelines are not defined. The present report describes the case of a 56-year-old female patient who was diagnosed to have epithelial myoepithelial carcinoma (EMC) of the minor salivary gland of the soft palate, Stage T2 N0 M0 (Stage group II). The patient was treated with radical radiotherapy followed by adjuvant chemotherapy and is alive with no evidence of disease after 12 months following the end of treatment.

Multicystic renal dysplasia, a histomorphological spectrum: Seven years experience from a tertiary care hospital.

OBJECTIVES: Multicystic dysplastic kidney (MCDK) is defined as the presence of multiple noncommunicating cysts of various sizes, detected sonographically, without evidence of functioning renal parenchyma on dimercaptosuccinic acid renal scan. It has an incidence of 1:4000 live births. They are more commonly diagnosed in boys, usually on the left side, but may also be bilateral. There is the presence of primitive ducts surrounded by fibromuscular connective tissue. These are because of the disturbed connection of the ureteric bud with renal blastema and abnormal division at the stage of metanephros, resulting in an abnormal metanephros differentiation. MATERIALS AND METHODS: Thirty cases of MCDK were included to study their histomorphology along with their clinical features. Cases were retrieved from the last seven years (2015-2021) from the Department of Pathology, Maulana Azad Medical College. RESULT: Age ranged from 10 days to 18 years. The cases were between 1 years and 5 years of age. Six out of 30 cases (20%) were infants with three of them being neonates. Twenty-one cases were males. All the cases had unilateral kidney involvement with the left kidney being involved in 20 out of 30 cases. Twenty-eight cases underwent nephrectomy in view of small contracted nonfunctional kidneys with one of them being horseshoe shaped. Five cases had associated hydronephrosis (two ipsilateral and three bilateral). One case had Hirshprung's disease, four had anorectal malformation, two had posterior urethral valves with vesicourethral reflux, one had duplex moiety, and one had undescended testes. On histopathological examination, all of them showed the presence of immature disorganized tubules surrounded by a collarette of immature mesenchymal stroma. One of the cases showed osteoid formation and four had areas of immature cartilage. Normal kidney parenchyma was seen at the periphery in four cases. CONCLUSION: This series has been presented to highlight the various histomorphological features of MCDK. MCDK can be managed conservatively in most of cases due to autoinvolution and, hence, needs to be differentiated from other close differentials like polycystic kidney disease, cystic nephroma, and cystic partially differentiated nephroblastoma in order to avoid unnecessary surgical intervention.

Infantile Fibrosarcoma of the Tongue Base.

Infantile fibrosarcoma is an uncommon soft tissue tumour in infants and children mostly located in the extremities. Its occurrence in the head and neck, particularly in the oral cavity is extremely rare. Here, we report a case of infantile fibrosarcoma of the tongue base in a 9-year-old boy and discuss the complexities in arriving at diagnosis and its management. The patient underwent wide local excision of the tumour. Histopathology was essential in confirming the diagnosis. As per search in English literature, this is the first case of infantile fibrosarcoma of the tongue base to be reported till date. Treatment of choice is wide local excision with or without chemotherapy.

Histopathological response to denosumab in giant cell tumours of bone - A review of 11 cases.

Background: Giant cell tumor (GCT) of the bone is a locally aggressive primary bone tumor, that can rarely metastasize. Arising mostly in epiphysis of the long bones in young adults, the tumor is composed of mononuclear cells that are admixed with osteoclastic giant cells(OLGCs), which express RANK ligand and RANK respectively. Denosumab a monoclonal antibody against RANK ligand has been shown to reduce the tumor by causing bone lysis by inhibiting RANKL. Histological changes in 11 patients of GCT who were treated with denosumab are presented here. Materials and Methods: Clinical records and slides of 11 patients of GCT who had been administered neoadjuvant denosumab were included in the study. Evaluation of pre and post therapy GCT specimens was performed by two pathologists (RK and VM). There were 4 males and 7 females. Their mean age was 30 years. All the patients received 120 mg denosumab subcutaneously every week with additional 120 mg on days 8 and 15 of therapy. The histological slides were reviewed and following points noted: 1) degree of ossification,2) fibrosis,3) loss of osteoclastic giant cells,4) proliferation of mononuclear cells,5) atypia,6) Permeation of osteoid by malignant cells. Results: Out of 11 cases, 2 cases did not show any significant histological improvement. 7 cases showed reduction in giant cells, increased fibrosis, enhanced mononuclear cell proliferation and ossification consistent with a pathological response. Atypia and osteoid permeation were noted in 2 cases which showed transformation to osteosarcoma. Conclusion: Denosumab treated giant cell tumor show dramatic histological changes. The post therapy lesions may bear no resemblance to pretherapy lesion. There may be complete resolution or may be confused with benign or malignant lesions Rarely they may show sarcomatous transformation. It is imperative that the pathologist is aware of these changes to prevent diagnostic pitfalls as it poses therapeutic and prognostic implications.

Osteosarcoma of the jaw: Primary versus secondary - A report of two cases.

ABSTRACT: Osteosarcoma (OS) is the most common primary malignancy of bone excluding hematological malignancies. Most common sites of tumor are long bones of extremities. OS of the jaw are extremely rare with mandible being more commonly after than maxilla. Hereby, we present two cases of OS of jaw with one patient being male and other female.

Primary neuroendocrine tumors of ovary: A clinicopathological spectrum in a tertiary care hospital with review of literature.

AIM: Primary neuroendocrine tumors in the ovary are rare. These tumors arise from the neuroendocrine cell system of ovarian stroma and surface epithelium, and may also arise from teratoma. We present four primary ovarian neuroendocrine tumors and discuss clinical, histomorphological, and immunohistochemical findings. METHODS: Four primary ovarian neuroendocrine tumors were identified from our 4-year departmental archives. H and E slides and immunostains were reviewed. Clinical history, imaging studies, and follow-up data were obtained from medical records. RESULTS: Patients' age ranged from 37 to 45 years. All the patients presented with abdominal discomfort, abnormal uterine bleeding, and unilateral or bilateral ovarian masses. Two of the cases were primary ovarian carcinoid tumors, one being the pure primary ovarian carcinoid tumor (PPOCT), and the other being associated with mature cystic teratoma, while the other two cases were neuroendocrine carcinoma. All the cases showed expression of neuroendocrine markers, namely, synaptophysin, chromogranin, and NSE. CONCLUSIONS: Primary neuroendocrine tumors in the ovary are rare and consist of a group of heterogeneous tumors that express similar immunohistochemical markers.