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1.
Pediatr Blood Cancer ; 69(3): e29466, 2022 03.
Article in English | MEDLINE | ID: mdl-34913555

ABSTRACT

Extrapulmonary DICER1-associated sarcomas (DS) can harbor morphological features overlapping with pleuropulmonary blastoma. We report three children with intracranial and genital tract sarcomas, suspected to have DS based on a heterogeneous yet defining combination of spindle-cell sarcomatous and blastemal morphology, with rhabdomyomatous differentiation. Foci of immature cartilage at diagnosis (n = 2/3) and increased neuroepithelial differentiation at recurrence (n = 1) were noted. Morphological suspicion prompted somatic testing at reference centers, confirming likely biallelic, loss-of-function, and "hotspot" missense DICER1 variants in all three tumors. This can serve as a model for this diagnosis in resource-limited settings and has implications for germline testing, surveillance, and tumor management.


Subject(s)
Pulmonary Blastoma , Sarcoma , Soft Tissue Neoplasms , Child , DEAD-box RNA Helicases/genetics , Developing Countries , Germ-Line Mutation , Humans , Pulmonary Blastoma/diagnosis , Pulmonary Blastoma/genetics , Pulmonary Blastoma/pathology , Ribonuclease III/genetics , Sarcoma/diagnosis , Sarcoma/genetics , Sarcoma/pathology
2.
J Lab Physicians ; 15(4): 562-566, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37780885

ABSTRACT

Introduction Lung cancer is currently the most common cause of cancer-related mortality, with 11.4% of cancers and 18% of cancer-related deaths worldwide whereas Indian figures are 6.9 and 9.3%, respectively. Hence, the need for early diagnosis. Bronchial biopsy has the highest sensitivity among all the samples that can be obtained by bronchoscopic techniques in case of endobronchial lesions. Imprint cytology has emerged as an important cytological method. Toluidine blue has been studied for its use as rapid onsite stain for cytological evaluation on various samples of cytology in different anatomic sites. This has helped in quick and less expensive, preliminary reporting. Objectives This article aims to assess the efficacy of onsite toluidine blue stain on imprint smears of bronchoscopic biopsies to diagnose malignancy in suspected cases of lung carcinoma. Study Type Prospective study on accuracy of a diagnostic test. Materials and Methods A total of 100 cases of bronchoscopy were included in the study. The patients were clinico-radiologically suspected to have brochogenic carcinoma and all of them were subjected to biopsy. Imprint smears were prepared from the bronchoscopy biopsy specimens. Smears were stained onsite with toluidine blue stain, and histopathology sections were stained with hematoxylin and eosin, also confirmed by immunohistochemistry. Results Sensitivity and specificity of onsite toluidine blue stain for malignancy reporting were 97.9 and 80%, respectively, when compared to histopathology as standard. Conclusion Toluidine blue can be used as an onsite staining method on imprint smears of bronchoscopic biopsy for preliminary detection of lung malignancy.

3.
J Endourol Case Rep ; 6(4): 405-408, 2020.
Article in English | MEDLINE | ID: mdl-33457686

ABSTRACT

Background: Inflammatory pseudotumor of the kidney is a rare disease of unknown etiology. There are no specific clinical or radiologic findings. The lesion can mimic renal cell carcinoma or transitional cell carcinoma depending on the site of involvement. These tumors, if diagnosed correctly, may respond to medical management. We present a case in which an inflammatory pseudotumor of the renal pelvis was misdiagnosed as a transitional cell carcinoma and unwarranted surgical intervention was performed. Case Presentation: A 39-year-old man presented with left flank pain and gross hematuria. On MRI, there was a hypointense 2.4 × 1.8 cm lesion involving the left renal pelvis. The urine cytology and biopsy of the lesion were inconclusive. On follow-up cans the lesion increased in size and patient had repeated hematuria. The lesion was clinically presumed to be a transitional cell carcinoma of the left renal pelvis. A laparoscopic left side nephroureterectomy along with bladder cuff excision and para-aortic lymphadenectomy was performed. The histology report revealed the lesion to be inflammatory pseudotumor of the renal pelvis. Conclusion: Inflammatory pseudotumor should always be considered in differential diagnosis of pelvic tumors, especially when image findings and biopsies are inconclusive.

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