Impact of macroscopic on-site evaluation on the diagnostic outcomes of endoscopic ultrasound-guided fine-needle aspiration.

BACKGROUND: Endoscopic ultrasound (EUS)-guided tissue acquisition is the preferred modality for diagnosing pancreatic lesions and mediastinal and abdominal lymph nodes. Rapid on-site cytologic evaluation improves the diagnostic outcome of EUS-guided fine-needle aspiration (FNA) but is unavailable at many centers. Alternatively, macroscopic on-site evaluation (MOSE) may improve the diagnostic outcome of EUS-FNA, but data are limited. Hence, the present study was conducted to assess the efficacy of MOSE in improving adequacy and accuracy. METHODS: We retrospectively analyzed data of consecutive patients with pancreatic or lymph nodal lesions undergoing EUS-guided FNA at a tertiary care center from December 2020 to December 2022. The study's primary outcomes were adequacy and diagnostic accuracy of the EUS-guided tissue acquisition, with secondary analysis of predictors of adequacy and accuracy. RESULTS: Data from 124 patients (44.4% male, median age: 54 years) who underwent EUS-FNA were included in the present analysis. The presence of macroscopic visible core (MVC) on MOSE was reported in 93/124 (75%) cases. An adequate sample for histopathological or cytological examination was obtained in 110/124 (88.7%) cases, while the diagnostic accuracy was 85.5%. On multivariate analysis, the absence of MVC on MOSE was found to be the independent negative predictor of both adequacy (OR 0.092, 95% CI: 0.024-0.349) and accuracy (OR 0.175, 95% CI: 0.057-0.536). CONCLUSION: The presence of MVC on MOSE can be an indicator of specimen adequacy and can improve the diagnostic yield of EUS-FNA.

Fine-Needle Aspiration Cytology in Preoperative Diagnosis of Bone Lesions: A Three-Year Study in a Tertiary Care Hospital.

AIM: The aim is to study the utility of fine-needle aspiration cytology (FNAC) in preoperative diagnosis of bone lesions in correlation with radiological and histopathological findings and to determine the spectrum and morphological features of various bone lesions on FNAC. MATERIALS AND METHODS: A total of 275 cases of bone lesions were studied by FNAC over a period of 3 years. 196 procedures were performed by pathologists, and 107 procedures were guided. Cytology findings were correlated with that of histology on cellblocks or on subsequent surgical biopsies. Immunohistochemistry (IHC) was done wherever necessary. RESULTS: Of the 275 cases, 49 lesions were inflammatory/infectious (granulomatous inflammation-19, nonspecific osteomyelitis-26, and fungal etiology-4), 16 were tumors of undefined neoplastic nature (aneurysmal bone cysts-12, and Langerhans cell histiocytosis-4), 99 lesions were benign (osteoblastoma-6, enchondroma-3, chondroblastoma-14, chondromyxoid fibroma-2, and Giant cell tumor-74), and 111 lesions were malignant (Osteosarcoma-36, chondrosarcoma-7, Ewing's sarcoma-28, lymphomas-4, plasma cell neoplasm-6, adamantinoma of long bone-1, and metastasis-29). Male to female ratio was 2:1, and the age range was between 4 and 84 years. Correlation with histology/cellblock was available in 149 tumors. Metastasis and round cell tumors such as Ewing's sarcoma and lymphoma were differentiated by IHC. The accuracy rate in cytological diagnosis of all bone lesions was 87.9% and for neoplasms was 93%. The discordance in the rest of the cases was due to inadequate cell material, and there were no false positives. CONCLUSION: We conclude that FNAC is a simple and accurate preoperative diagnostic technique for assessment of bone tumors.

A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4.

The T-box4 (TBX4) gene (OMIM *601719) belongs to the T-box family of transcription regulators that share a conserved homology domain and are expressed at specific sites during various stages of embryonic development. Tbx4 has been found to be a crucial transcriptional regulator in embryonic hindlimb development in animal models. Monoallelic variants in the TBX4 gene are reported to be associated with skeletal defects of the pelvis and lower limbs. We report here a fetus with a novel multiple malformation syndrome associated with sacrococcygeal agenesis, bilateral lower limb aplasia, hypoplastic left heart, bilateral lung hypoplasia, hydroureteronephrosis, and nonimmune fetal hydrops, found to have a homozygous nonsense variant in the TBX4 gene. We propose that biallelic variants in the TBX4 gene are associated with a severe syndromic phenotype of sacrococcygeal agenesis and lower limb reduction defects.

Utility of cytology in the diagnosis of parasitic infestation: A retrospective study.

BACKGROUND: Parasitic infestation is one of the serious health problems in developing countries. Parasitic infestation is usually asymptomatic and does not cause disease as it may eventually lead to the death of both organism and host. MATERIALS AND METHODS: This was a retrospective study done over a period of 5 years from 2013 to 2018. The study included 26 cases of parasitic infestations diagnosed on fine-needle aspiration cytology (FNAC) as well as fluid cytology. RESULTS: Hydatidosis, cysticercosis, and filariasis were the parasitic infestations observed in this study, of which hydatidosis was the most common infestation. The predominant age group was 20-85 years old, with a mean age of presentation being 55 years. There was male predominance with a male-female of 9:1. CONCLUSION: FNAC and fluid cytology are rapid diagnostic tools that aid in the early diagnosis of parasitic infestations. In parasitic infestations presenting as visceral cystic lesions, thorough examination with proper clinical correlation aid in early management. In cases with coexistent malignancy, cytology plays a major role in the diagnosis of silent carriers of infection.

Metachronous malignancies in head and neck region: report of two cases.

The development of a second primary cancer after treatment of the first with radiotherapy or chemotherapy is well documented. Multiple metachronous primary cancers are known to occur in an individual, but it is often seen with hematological malignancies of childhood. The prevalence of multiple primary malignancies (MPM) is between 0.73% and 11.7%. The most frequent malignant associations are ovary-colon, ovary-breast, and breast-breast. The possibility of developing a second metachronous cancer 5 years after undergoing treatment of the initial head and neck cancer is approximately 22%. Here, we report two cases of multiple metachronous malignancies in head and neck region. A 46-year-old woman presented with thyroid and salivary gland neoplasms metachronously and another 21-year-old woman with Hodgkin' s Lymphoma, mucoepidermoid carcinoma of salivary Gland, and follicular variant of papillary carcinoma of thyroid.