Search

Introduction Cytogenetic abnormalities are integral to the risk stratification of acute lymphoblastic leukemia (ALL). Objectives The present study aimed to highlight a rare, yet nonrandom cytogenetic abnormality notably dicentric (9;12), which was observed in ALL patients who presented to our institute. The study analyzed the frequency, clinicohematological features, and treatment response of these patients. Materials and Methods A single-group observational study was conducted from April 2014 to April 2020. Cytogenetic analysis was done on bone marrow aspirate samples of the patients referred to the cytogenetics laboratory with clinical diagnosis of acute leukemia. Cytogenetic, clinical, and hematological data were collected from respective departmental records, case files, and patients. Results Dic(9;12) was identified in 1.2% of ALL (19 out of 1,544 patients). They showed striking preponderance in teen and young adult males with characteristic precursor B cell immunophenotype. Majority of these patients displayed favorable risk profiles such as low total count, mild lymphadenopathy and splenomegaly, mild-to-moderate elevation of lactate dehydrogenase, and good response to first induction chemotherapy. Rare coexistence of dic(9;12) with well-established cytogenetic markers such as t(9;22) and t(1;19) was observed. Conclusion Dic(9;12) is one of the most specific cytogenetic markers of precursor B cell (pre-B) ALL. It defines a subgroup with favorable clinical and biological profile. We suggest inclusion of dic(9;12) in cytogenetic risk stratification of precursor B cell ALL. Long-term follow-up studies are recommended to establish the prognostic significance of this cytogenetic subgroup, which may benefit from less intensive chemotherapy.

Background: Cancer is one of the leading causes of death in the pediatric age group following infections. Among the diagnostic modalities, fine needle aspiration cytology (FNAC) is increasingly recognized as it permits rapid diagnosis with low cost and complication. In this study, we emphasize the diagnostic value of FNAC and describe the cytomorphological spectrum of tumors diagnosed on FNAC in pediatric patients with or without the aid of ancillary tests. Materials and Methods: This retrospective study included a total of 614 patients under the age of 15 years for whom fine needle aspiration (FNA) was done during a period of 3 years with or without guidance. The cytology smears were reviewed, and the morphological spectrum was analyzed with the ancillary studies. Results: Aspirates from children constituted around 3.5% of the total FNAC performed in our Institute. Of the 614 cases, 336 were male, and 278 were female with age under 15 years. Neoplastic cases constituted around 72%, which included benign (2%) and malignant (98%) tumors. The spectrum include hematolymphoid neoplasms in 39.3%, small round cell tumors (SRCT) in 24.9%, Wilms tumor in 9.2%, germ cell tumors in 4.8%, spindle cell neoplasms in 4.8%, hepatoblastoma in 3.2%, and osteosarcoma in 3% of the cases. The metastatic lesions constituted 8.1% of the cases diagnosed by FNA. Conclusion: FNA proves to be a reliable and efficien modality in diagnosing pediatric neoplasms in the hands of a skilled cytopathologist.

Introduction Neuroblastoma (NB), Wilms tumor (WT), hepatoblastoma (HBL), germ cell tumors (GCT), rhabdomyosarcoma (RMS), and so forth are the commonly identified solid tumors in infants. Invasive diagnostic techniques are more challenging in infants than older children. fine needle aspiration cytology (FNAC) is a safe, minimally invasive and outpatient procedure which is time and cost-effective for solid tumor diagnosis. This study aims to evaluate the role of FNAC in the diagnosis of various infantile solid tumors. Methods In this retrospective study, 61 cases of FNA of infant solid tumors were retrieved from the cytology archives over a period of 5 years from January 2013 to December 2017. Cytomorphology was studied and immunohistochemistry on cell block was performed wherever feasible. Histopathological correlation was done in 19 cases. Results Of the 61 cases studied, 60 cases were included in the study of which 35 were male and 25 were female. Infantile solid tumors constituted 7.3% of all pediatric solid tumors reported in cytopathology division of our Institute. The most common final diagnosis was NB (15, 25%) followed by HBL (13, 21.6%), WT (10, 16.6%), RMS (nine, 15%) and GCT (nine, 15%). The commonest site was abdominal-pelvic (42, 70%). A definitive independent diagnosis could be made on FNA in 48 cases (80%). Follow-up was done for 1.5 to 4 years (mean 26 months). The highest and lowest mortality was noted in NB (64.3%) and WT (12.5%) respectively. Conclusion This study concludes that FNAC can be adopted as a diagnostic modality in infant solid tumors.

Cytogenetic or immunohistochemical studies are often required to differentiate Ewing′s sarcoma (ES) from other small round cell tumors. Herein we report a case of 13-year-old boy who presented with a large presacral lesion. Hemogram and biochemical parameters were normal except lactate dehydrogenase showing value of 96.40/IU/L, magnetic resonance imaging of the spine showed a large mass in presacral lesion (8 cm × 7 cm × 9 cm), with destruction of the sacrum (S2 S3 and S4) with interspinal extension. Bone scan showed multiple pelvic bone lesions, radiograph of chest, ultrasound of abdomen, pelvis and electrocardiogram were within normal limits. Bone marrow was not involved. Cells from the fine needle aspirate were cultured for short term using RPMI medium and karyotype obtained showed a t(12;22)(p12;q12) instead of the classic t(11;22). Diagnosis of ES was also confirmed by studies using immunohistochemistry for MIC2 which was positive, synaptophysin was inconclusive and leukocyte common antigen, desmin negative. This case provides evidence of the importance of chromosome 22, in the etiology of the disease.