A tale of recurrent secretory carcinoma of submandibular gland in an adolescent male: A rare presentation of a rare tumor.

Mammary analogue secretory carcinoma (MASC) is a rare salivary gland tumor which shares its histologic, immunohistochemical, and genetic features with the secretory carcinoma (SC) of breast. In this case report, we describe a case of MASC in a young adolescent male with swelling in the right angle of mandible which is a relatively rare site to present along with its correlation of cytological, histological, and immunohistochemical features. A 16-year-old male came with the complaint of swelling in the right angle of mandible since 2 years. Contrast-enhanced computed tomography (CECT) neck revealed differential diagnosis of nerve sheath tumor, pleomorphic adenoma, and adenoid cystic neoplasm was kept, and subsequently fine-needle aspiration cytology (FNAC) was done. FNAC was done in which differential diagnosis of myoepithelial neoplasm, acinic cell carcinoma, and SC was given. Surgical excision was done followed by histopathological examination. Immunohistochemistry panel was also applied, and final diagnosis of SC was rendered. SC has distinct cytological, histological, and immunohistochemical features which should be recognized by the pathologists for the appropriate management of the patient.

Hyaline cartilage at the portal plate and gallbladder in biliary atresia.

Biliary atresia (BA) is a fibro-obliterative cholestatic disease of infancy. The presence of cartilage in the resected tissue is an uncommon finding. We documented the presence of both mature and immature hyaline cartilage in the portal plate and the wall of the gallbladder in a 2-month-old girl infant with BA who had undergone Kasai portoenterostomy. The presence of cartilage could be part of a heterotopia or an uncommon connective tissue metaplasia. The presence of immature cartilage with the merging of the perichondrium with the soft tissue highlights a metaplastic etiology in the index case.

Clinical, histopathological, and immunohistochemical spectrum of hepatolithiasis: a tertiary care center-based study from north India.

Hepatolithiasis (HL), an uncommon disease among Indians, occurs due to a complex interplay of various structural and functional factors. We retrospectively evaluated the clinical and histopathological spectrum of HL (N = 19) with immunohistochemical evaluation for biliary apomucins and canalicular transporter proteins, both crucial for lithogenesis. Nineteen surgically resected cases were included. Histopathology was systematically evaluated. Immunohistochemistry for apomucins (MUC1, MUC2, MUC4, MUC5AC, and MUC6) and canalicular transporter proteins (BSEP and MDR3) was applied to all cases. The median age was 51 years with female preponderance (F:M = 1.4:1). The stone was cholesterol-rich in 71.4% and pigmented in 28.6% (n = 14). Histopathology showed variable large bile-duct thickening due to fibrosis and inflammation with peribiliary gland hyperplasia. Structural causes (Caroli disease, choledochal cyst, and post-surgical complication) were noted in 15.8% of cases (secondary HL). Expression of gel-forming apomucin MUC1, MUC2, and MUC5AC was seen in either bile duct epithelia or peribiliary glands in 84.2%, 10.5%, and 84.2% cases respectively. Loss of canalicular expression of MDR3 was noted in 42.1% of cases while BSEP was retained in all. Primary HL in the north Indian population can be associated with the loss of MDR3 expression (with retained BSEP) and/ or a shift in the phenotype of biliary apomucins to gel-forming apomucins. The former factor alters the bile acid/ phospholipid ratio while the latter parameter promulgates crystallization. In conjunction, these factors are responsible for the dominantly cholesterol-rich stones in the index population.

Hyaline cartilage at the portal plate and gallbladder in biliary atresia

ABSTRACT Biliary atresia (BA) is a fibro-obliterative cholestatic disease of infancy. The presence of cartilage in the resected tissue is an uncommon finding. We documented the presence of both mature and immature hyaline cartilage in the portal plate and the wall of the gallbladder in a 2-month-old girl infant with BA who had undergone Kasai portoenterostomy. The presence of cartilage could be part of a heterotopia or an uncommon connective tissue metaplasia. The presence of immature cartilage with the merging of the perichondrium with the soft tissue highlights a metaplastic etiology in the index case.

Fine needle aspiration cytology of the primitive myxoid mesenchymal tumor of infancy.

Primitive myxoid mesenchymal tumor of infancy (PMMTI) is a recently described entity, previously included under the umbrella of undifferentiated sarcomas. These tumors are notorious for recurrence, chemoresistance and may even metastasize. We describe here, for the first time, the cytomorphology of PMMTI. Further, we discuss the morphological differentials and relevant immunocytochemical markers to reach a correct diagnosis. Knowledge about the distinctive cytomorphological features with characteristic immunocytochemistry is the key to the challenging diagnosis of PMMTI. Establishing the diagnosis on cytology is not difficult in cases of recurrence when such a history is forthcoming. These tumors are a rarity, and awareness of cytomorphology and employment of ancillary techniques is diagnostic, guiding the appropriate therapeutic management.

Liquid-based cytology and immunocytochemistry in the evaluation of a vault lesion in a postmenopausal woman.

Cytological features of small cell neuroendocrine carcinoma of the cervix in a liquid-based preparation from a vault lesion.

Multicoloured flow cytometry to detect metastatic carcinoma in lymph node by epithelial cell adhesion molecule.

BACKGROUND: The metastatic carcinoma in the lymph node may be missed in routine fine needle aspiration cytology (FNAC). There are limited studies on the role of epithelial cell adhesion molecule (EpCAM) in detecting metastatic carcinoma in the FNAC of lymph nodes by flow cytometry (FCM). AIMS: To evaluate the role of EpCAM in flow cytometry detecting metastatic carcinoma in the fine needle aspiration cytology (FNAC) of the lymph node. MATERIALS AND METHODS: In this prospective study, successive 42 cases of lymph nodes were subjected to FNAC followed by flow cytometry to detect the EpCAM positive cell population. The sample was used for cytology and FCM (CD45, CD14, and EpCAM antibodies tagged with fluorochromes). The percentage of EpCAM positive cell population in each case was calculated and compared in the metastatic carcinomas and reactive lymphoid hyperplasia (RLH) cases. RESULT: There were 29 cases of metastatic carcinoma and 13 non-neoplastic cases (12 RLH and one granulomatous inflammation). The average percentages of EpCAM in metastatic carcinoma and reactive lymphoid cells were 11.37 and 1.24, respectively. The independent sample t-test showed a significant difference (0.001) in the percentage of EpCAM in the two groups. The cut of value of 3% EpCAM in FCM showed 97% sensitivity and 92% specificity to detect metastatic carcinoma in FNAC of the lymph node. CONCLUSION: The percentage of EpCAM in FCM may be helpful in detecting metastatic carcinoma in the lymph node. The FCM is a rapid and quantitative test with high sensitivity and specificity.

Diagnosis of hairy cell leukaemia by fine needle aspiration cytology of lymph node.

BACKGROUND: Hairy cell leukaemia (HCL) is a rare lymphoproliferative disorder of B cell origin, and uncommonly it affects the lymph node. Fine needle aspiration cytology (FNAC) of lymph node of HCL has rarely been described. CASE DESCRIPTION AND DIAGNOSIS: A 41-year-old man presented with pallor, fever, tachycardia, generalized lymphadenopathy, and massive splenomegaly. The FNAC of the cervical lymph node was done. The smears showed many atypical lymphocytes with a plasmacytoid appearance. There were many large cells with round to reniform shaped nuclei having with hair-like cytoplasmic processes. Flow cytometry (FCM) revealed a clonal B cell population with light chain restriction and positive CD20, CD79b, CD22, CD11c, CD25, CD103, CD123, and CD200 markers. CONCLUSION: The characteristic cytological features such as atypical lymphoid cells, large cells with hairy projections along with FCM findings, are helpful in the diagnosis of HCL.

Missing Hb Q-India Peak in a Triple-Heterozygous Patient with Hb D-Punjab/Hb Q-India/ß-Thalassemia Trait.

Interpretation of variant hemoglobins (Hbs) can pose challenges. We describe a puzzling case with multiple variant Hb peaks that was solved by family studies. A 32-year-old female with anemia and jaundice underwent cation exchange high performance liquid chromatography (HPLC), which revealed near-absence of Hb A along with variant peaks in the D- and C-windows (78.9 and 13.3%, respectively) and normal range of Hb F. As the HPLC did not fit any known pattern, family screening was performed. Her mother was heterozygous for Hb D-Punjab (HBB: c.364G>C) and Hb Q-India (HBA1: c.193G>C) with the hybrid αQ-India/ßD-Punjab eluting in the C-window on HPLC. Her sister had ß-thalassemia (ß-thal) trait, while her brother was heterozygous for Hb Q-India. In view of the family study results, the index case was interpreted as a double heterozygote for Hb D-Punjab and ß-thal with coinherited Hb Q-India. The Hb Q-India peak [retention time (RT) 4.7 min.] was absent on her HPLC as there were no normal ß-globin chains available to bind with the αQ-India chains. To the best of our knowledge, such an HPLC pattern with a missing Q-India peak, despite having inherited the αQ-India variant, has not been previously reported. This case illustrates the importance of family screening as an inexpensive and rapid method to resolve difficult and unusual HPLC patterns.

Fine-needle aspiration cytology of extra-salivary adenoid cystic carcinoma.

INTRODUCTION: Adenoid cystic carcinoma (ACC) is a ubiquitous tumour which can occur in several sites of the human body. Commonly, it affects the salivary glands but also can rarely occur in various extra-salivary locations. AIM: To study the clinical and cytological features of extra-salivary ACC on fine needle aspiration cytology. METHODS: In this paper, we included 27 patients with extra-salivary ACC on fine needle aspiration cytology over a period of 5.5 years. The complete cytomorphological spectrum of extra-salivary ACC was studied. RESULTS: The mean age of the patients was 50.2 years, with age ranging between 14 and 80 years. Male to female ratio was 1:1.7 with 17 females and 10 males. The most frequent primary site was the orbit, and the most frequent sites of metastasis were liver and lung. CONCLUSION: Cytopathologists should be alert about the full range of location as well as the cytological spectrum of extra-salivary ACC for greater precision in diagnosis and prompt treatment.