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Case Report

Published: Jun 08, 2025 | DOI: 10.24911/ejmcr.9-2075

Li Fraumeni Syndrome presenting atypically as Immune thrombocytopenia and early aging phenotype - A case report

Authors: Manthan Kathrotiya , Ambika Gupta , Jayani Patel , Vijaykumar Shirure , Dhara Shah , Reena Trivedi , Sandip Kheni , Neha Motwani , Grishma Sukhwal , Chaitrangi Paranjape , Velu Nair ,

Article Info

Authors

Manthan Kathrotiya

Department of Clinical Hematology and Cellular Therapy, Apollo Cancer Centre, Apollo Hospital International Limited, Gandhinagar, India

Ambika Gupta

Department of Medical Genetics, Apollo Hospital International Limited, Gandhinagar, India

Jayani Patel

Department of Clinical Hematology and Cellular Therapy, Apollo Cancer Centre, Apollo Hospital International Limited, Gandhinagar, India

Vijaykumar Shirure

Department of Clinical Hematology and Cellular Therapy, Apollo Cancer Centre, Apollo Hospital International Limited, Gandhinagar, India

Dhara Shah

Department of Clinical Hematology and Cellular Therapy, Apollo Cancer Centre, Apollo Hospital International Limited, Gandhinagar, India

Reena Trivedi

Department of Medical Genetics, Apollo Hospital International Limited, Gandhinagar, India

Sandip Kheni

Department of Clinical Hematology and Cellular Therapy, Apollo Cancer Centre, Apollo Hospital International Limited, Gandhinagar, India

Neha Motwani

Department of Clinical Hematology and Cellular Therapy, Apollo Cancer Centre, Apollo Hospital International Limited, Gandhinagar, India.

Grishma Sukhwal

Department of Clinical Hematology and Cellular Therapy, Apollo Cancer Centre, Apollo Hospital International Limited, Gandhinagar, India.

Chaitrangi Paranjape

Department of Clinical Hematology and Cellular Therapy, Apollo Cancer Centre, Apollo Hospital International Limited, Gandhinagar, India

Velu Nair

Department of Clinical Hematology and Cellular Therapy, Apollo Cancer Centre, Apollo Hospital International Limited, Gandhinagar, India

Publication History

Received: April 12, 2025

Accepted: April 30, 2025

Published: June 08, 2025

Abstract

Background: Germline mutations in the TP53 gene are primarily associated with Li-Fraumeni syndrome (LFS), a hereditary cancer predisposition disorder. While the predominant manifestations are various malignancies, there is limited information regarding non-malignant clinical features, particularly affecting the skin and musculoskeletal systems, in TP53 mutation carriers. We report a rare case of LFS presenting with immune thrombocytopenia and changes of early aging and discuss the possible underlying pathophysiological mechanisms for these.

Case presentation: A 16-year-old female presented with complaints of spontaneous ecchymotic patches over both upper limbs, lower limbs, and chest along with menorrhagia. Comprehensive evaluation with bone marrow examination confirmed diagnosis of immune thrombocytopenia (ITP) which was treated with steroids, intravenous immunoglobulin (IVIG), and thrombopoietin receptor agonists (TPO-RAs), and the patient responded completely with normalization of platelet count. Given the positive family history of thrombocytopenia in the sister and early malignancy in the maternal family, a whole exome sequencing was done which showed a heterozygous pathogenic variant in the TP53 gene confirming a background of LFS.

Conclusion: A case of Li-Fraumeni syndrome with a positive family history presenting as primary ITP successfully managed with ITP-like treatment is a rare immunological complication and has not been reported in the literature to date.

Keywords: Case report, Li Fraumeni syndrome, TP53 mutation, Immune thrombocytopenia, familial cancer syndrome

Pubmed Style

Manthan Kathrotiya, Ambika Gupta, Jayani Patel, Vijaykumar Shirure, Dhara Shah, Reena Trivedi, Sandip Kheni, Neha Motwani, Grishma Sukhwal, Chaitrangi Paranjape, Velu Nair. Li Fraumeni Syndrome presenting atypically as Immune thrombocytopenia and early aging phenotype - A case report. EJMCR. 2025; 08 (June 2025): -. doi:10.24911/ejmcr.9-2075

Web Style

Manthan Kathrotiya, Ambika Gupta, Jayani Patel, Vijaykumar Shirure, Dhara Shah, Reena Trivedi, Sandip Kheni, Neha Motwani, Grishma Sukhwal, Chaitrangi Paranjape, Velu Nair. Li Fraumeni Syndrome presenting atypically as Immune thrombocytopenia and early aging phenotype - A case report. https://ejmcr.com/articles/2075 [Access: June 08, 2025]. doi:10.24911/ejmcr.9-2075

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Harvard Style

Manthan Kathrotiya, Ambika Gupta, Jayani Patel, Vijaykumar Shirure, Dhara Shah, Reena Trivedi, Sandip Kheni, Neha Motwani, Grishma Sukhwal, Chaitrangi Paranjape, Velu Nair (2025) Li Fraumeni Syndrome presenting atypically as Immune thrombocytopenia and early aging phenotype - A case report. EJMCR, 08 (June 2025): -. doi:10.24911/ejmcr.9-2075

Chicago Style

Manthan Kathrotiya, Ambika Gupta, Jayani Patel, Vijaykumar Shirure, Dhara Shah, Reena Trivedi, Sandip Kheni, Neha Motwani, Grishma Sukhwal, Chaitrangi Paranjape, Velu Nair. "Li Fraumeni Syndrome presenting atypically as Immune thrombocytopenia and early aging phenotype - A case report." 08 (2025), -. doi:10.24911/ejmcr.9-2075

MLA (The Modern Language Association) Style

Manthan Kathrotiya, Ambika Gupta, Jayani Patel, Vijaykumar Shirure, Dhara Shah, Reena Trivedi, Sandip Kheni, Neha Motwani, Grishma Sukhwal, Chaitrangi Paranjape, Velu Nair. "Li Fraumeni Syndrome presenting atypically as Immune thrombocytopenia and early aging phenotype - A case report." 08.June 2025 (2025), -. Print. doi:10.24911/ejmcr.9-2075

APA (American Psychological Association) Style

Manthan Kathrotiya, Ambika Gupta, Jayani Patel, Vijaykumar Shirure, Dhara Shah, Reena Trivedi, Sandip Kheni, Neha Motwani, Grishma Sukhwal, Chaitrangi Paranjape, Velu Nair (2025) Li Fraumeni Syndrome presenting atypically as Immune thrombocytopenia and early aging phenotype - A case report. , 08 (June 2025), -. doi:10.24911/ejmcr.9-2075