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jhc.2026.10.1.6

Journal of Histopathology and Cytopathology

Official Journal of Bangladesh Academy of Pathology

Vol 10, No 1, January 2026

Genetic Profile of Spinal Muscular Atrophy: A Case Series from Bangladesh

*Nahid MS,1 Hoque MM2

Abstract
Background: Spinal muscular atrophy is an autosomal recessive neuromuscular disorder caused primarily by homozygous deletions of the survival motor neuron 1 (SMN1) gene. Disease severity is influenced by the number of SMN2 gene copies and other modifiers such as neuronal apoptosis inhibitory protein (NAIP). Molecular confirmation is essential for diagnosis, family counseling, and therapeutic planning.
Objective: To describe the molecular findings of clinically suspected spinal muscular atrophy patients referred for genetic testing in Bangladesh.
Methods: Eight patients were evaluated in the Department of Pathology, National Institute of Laboratory Medicine and Referral Center, Dhaka-1207, between September 2024 and January 2025. Multiplex ligation-dependent probe amplification (MLPA) was performed to assess deletions or duplications in SMN1, SMN2, and NAIP. Variants were classified according to international standards.
Results: Five of the eight patients demonstrated homozygous deletions of SMN1 exons 7 and/or 8, confirming the diagnosis of spinal muscular atrophy. Most of these patients carried three copies of SMN2, which is associated with relatively milder phenotypes. All of them also showed heterozygous deletions of NAIP, which may contribute to disease severity. One patient exhibited multiple heterozygous duplications involving SMN1 and SMN2; this was classified as a variant of uncertain clinical significance. Another child had a normal copy number profile despite clinical suspicion. In one additional child, homozygous deletions of SMN2 exons 7 and 8 were found along with multiple heterozygous deletions across SMN1; this was interpreted as carrier status with uncertain clinical impact.
Conclusion: This case series confirms the predominance of SMN1 exon 7 and 8 deletions in Bangladeshi spinal muscular atrophy patients, with SMN2 copy number and NAIP status acting as important modifiers. Genetic testing using MLPA is a valuable diagnostic tool in the local context. Broader access to molecular diagnostics and counseling services is essential.

[Journal of Histopathology and Cytopathology, 2026 Jan; 10 (1):49-52]
DOI: https://www.doi.org/10.69950/jhc.2026.10.1.6

Keywords: Spinal muscular atrophy, SMN1, SMN2, MLPA, NAIP

  1. *Dr. Md. Shahrior Nahid, Resident Medical Officer, National Institute of Laboratory Medicine and Referral Center, Dhaka-1207. shahrior.nahid@gmail.com
  2. Dr. Mohammad Mahabubul Hoque, Assistant Professor (Pathology), National Institute of Laboratory Medicine and Referral Center, Dhaka-1207

 

*For Correspondence
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jhc.2026.10.1.7

Journal of Histopathology and Cytopathology

Official Journal of Bangladesh Academy of Pathology

Vol 10, No 1, January 2026

Expression of p53 in Urothelial Carcinoma of the Urinary Bladder: Correlation with Tumor Grade and Muscle Invasion
Azim T,1 Jinnah MS,2 Aktar M,3 Ahmed M,4 *Badhan RE5

Abstract
Background: The p53 gene, a well-known tumor suppressor gene located on chromosome 17p13.1, plays a pivotal role in regulating cell cycle arrest and apoptosis. Mutations or overexpression of p53 have been linked to tumor progression in urothelial carcinoma.
Aim: To evaluate p53 expression in urothelial carcinoma of the urinary bladder and determine its relationship with histopathological grade and muscle invasion.
Methods: This cross-sectional study was conducted at Dhaka Medical College between March 2020 and February 2022. Forty histopathologically diagnosed urothelial carcinoma cases from TURBT or cystectomy specimens were included. p53 expression was assessed by immunohistochemistry and correlated with tumor grade and the presence of muscle invasion.
Results: The mean age was 60.85 ± 11.18 years (range 40–85), with a male-to-female ratio of 3.4:1. p53 was positive in 65% of all cases and in 92.3% of high-grade tumors, while most low-grade tumors were negative. Among high-grade, muscle-invasive cases, p53 positivity was observed in 93.3% of cases. The correlation between p53 overexpression and both tumor grade and muscle invasion was statistically significant (p<0.05).
Conclusion: p53 expression is significantly associated with aggressive urothelial carcinoma phenotypes, supporting its utility as a prognostic biomarker in clinical decision-making.
[Journal of Histopathology and Cytopathology, 2026 Jan; 10 (1):53-62]
DOI: https://www.doi.org/10.69950/jhc.2026.10.1.7

Keywords: p53, tumor suppressor gene, bladder cancer, urothelial carcinoma, cell cycle regulation, immunohistochemistry, muscle-invasive

  1. Dr. Tasmia Azim, Assistant Professor, Department of Pathology, Holy Family Red Crescent Medical College, Dhaka. tasmia.azim@gmail.com  
  2. Professor Dr. Mohammed Shahed Ali Jinnah. Ex-director, National Institute of Laboratory Medicine and Referral Centre (NILMRC), Dhaka. jinnah63@gmail.com
  3. Dr. Marufa Aktar, Assistant Professor, Department of Pathology, Sher E Bangla Medical College, Barishal. marufaepu@gmail.com
  4. Dr. Nasim Ahmed, Junior Consultant,Department of Anesthesia, Analgesia, Palliative and Intensive Care Medicine, Dhaka Medical College and Hospital. : dr.ahmednasim@gmail.com
  5. *Dr. Raisa Enayet Badhan, Medical Officer, Department of Microbiology, National Institute of Burn and Plastic Surgery, Dhaka. raisabadhan@gmail.com

*For Correspondence

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jhc.2026.10.1.8

Journal of Histopathology and Cytopathology

Official Journal of Bangladesh Academy of Pathology

Vol 10, No 1, January 2026

Histopathologic Findings of Breast Lesions and It’s Association with Corresponding Radiologic Findings.

*Datta T,1 Asaduzzaman,2 Ray TK,3 Hoque MM4

Abstract
Background: Invasive breast carcinoma is one of the most common carcinoma in women. Breast Imaging-Reporting and Data System (BI-RADS) classification besides histopathology has become an important tool for evaluation of malignant breast diseases. The purpose of this study is to assess the similarity between radiological and histopathological findings and illustrate the predictive value in the BI-RADS category.
Methods: This is a retrospective study, done at National Institute of Burn and Plastic Surgery, Dhaka from January 2023 to December 2023, included those patients who had radiological examination with BI-RADS categories 3, 4 and 5 followed by histopathological examination to confirm the diagnosis based on breast core biopsy and excision specimen within 1 year. The clinico-radiologic features were correlated with the histopathologic results using the chi- square test. The scoring system was designed based on the significant predictive features of malignancy, and its diagnostic performance was compared with that of the Breast Imaging-Reporting and Data System (BI-RADS) category.
Result: Among 111 cases, by histopathological diagnosis, malignancy was found in 54 cases (48.6%) and benign was found in 57 cases (51.4%). BI-RADS scoring category 3,4 and 5 cases were 51(45.9%), 26(23.4%) and 34(30.6%) respectively. P-value from Chi-square test shows strong association of malignancy with age ≥50, post-menopause and higher BI-RADS categories like 4 and 5. Overall, the breast lesions evaluated by BI-RADS classification have a sensitivity of 94.48%, specificity of 43.14%, a PPV of 63.9% and a NPV of 88%.
Conclusion: A strong association was found between BI-RADS score 4,5 and histopathologically diagnosed malignant lesion.

[Journal of Histopathology and Cytopathology, 2026 Jan; 10 (1):63-70]
DOI: https://www.doi.org/10.69950/jhc.2026.10.1.8

Keywords: Breast Lesion, BI-RADS, Histopathology, Association.

  1. *Dr. Tanusree Datta, MBBS, MD (Pathology), Assistant Professor, Pathology Department, National Institute of Burn and Plastic Surgery, Dhaka. tanusreebsmmu89@gmail.com.
  2. Dr. Asaduzzaman, MBBS, MD (Pathology), Associate Professor, Pathology Department, National Institute of Burn and Plastic Surgery, Dhaka.
  3. Dr. Major Tapan Kumar Ray, MBBS, FCPS Trainee Officer, Combined Military Hospital, Dhaka.
  4. Dr. Mohammad Mahabubul Hoque, MBBS, MD (Pathology), M. Med, Associate Professor, Pathology Department, National Institute of Laboratory Medicine and Referral Centre, Dhaka.

*For correspondence
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