A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma

Neurofibromatoses are a group of genetic disorders that cause tumours to form on the nerve tissue. These tumours can progress to more proliferative lesions and can also eventually become malignant, giving rise to a Malignant Peripheral Nerve Sheath Tumour (MPNST). The authors describe a rare case in...

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Main Authors: Apoorva Pande, Samarth Shukla, Sourya Acharya, Pravin Gadkari, Milind Pande
Format: Article
Language:English
Published: JCDR Research and Publications Private Limited 2025-02-01
Series:Journal of Clinical and Diagnostic Research
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Online Access:https://jcdr.net/articles/PDF/20571/70068_CE[Ra1]_F(SHU)_Ref_Pat(SL)_PF1(KB_SL_OM)_redo_PFA(IS)_PN(IS).pdf
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author Apoorva Pande
Samarth Shukla
Sourya Acharya
Pravin Gadkari
Milind Pande
author_facet Apoorva Pande
Samarth Shukla
Sourya Acharya
Pravin Gadkari
Milind Pande
author_sort Apoorva Pande
collection DOAJ
description Neurofibromatoses are a group of genetic disorders that cause tumours to form on the nerve tissue. These tumours can progress to more proliferative lesions and can also eventually become malignant, giving rise to a Malignant Peripheral Nerve Sheath Tumour (MPNST). The authors describe a rare case involving a 27-year-old female who presented with swelling on the left forearm in the surgery Outpatient Department (OPD). The swelling measured 6×5 cm and was noted on the left upper forearm. The overlying skin appeared normal, with no evident pulsations. Notably, a scar mark indicative of a previous surgery for a similar swelling was observed at the same site. The patient reported that the previous swelling was operated 2 years ago. Magnetic Resonance Imaging (MRI) findings indicated fusiform swelling in the mid-forearm, possibly originating from the ulnar nerve with significant involvement of the adjacent structures. This case underscores the complexity and diagnostic challenges associated with such swellings, necessitating thorough examination and ongoing monitoring for timely intervention. This case highlights the importance of thorough clinical evaluation, histopathological examination, and molecular analysis in accurately characterising such tumours, guiding clinical management decisions, and ensuring optimal patient outcomes. The diagnostic evaluation and analysis of such swellings contribute invaluable information regarding their proliferation rate and propensity for malignant progression. This comprehensive understanding aids clinicians in tailoring management approaches that prioritise minimal invasiveness while effectively addressing the potential for malignancy, thus optimising patient care.
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institution Kabale University
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publishDate 2025-02-01
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spelling doaj-art-f2aadca87ee54c43b7d88842c6433c842025-02-03T12:23:34ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2025-02-011902010310.7860/JCDR/2025/70068.20571A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the EnigmaApoorva Pande0Samarth Shukla1Sourya Acharya2Pravin Gadkari3Milind Pande4Junior Resident, Department of Pathology, Datta Meghe Institue of Higher Education and Research, Wardha, Maharashtra, India.Professor, Department of Pathology, Datta Meghe Institue of Higher Education and Research, Wardha, Maharashtra, India.Professor, Department of Pathology, Datta Meghe Institue of Higher Education and Research, Wardha, Maharashtra, India.Professor, Department of Pathology, Datta Meghe Institue of Higher Education and Research, Wardha, Maharashtra, India.Professor, Department of Pathology, Datta Meghe Institue of Higher Education and Research, Wardha, Maharashtra, India.Neurofibromatoses are a group of genetic disorders that cause tumours to form on the nerve tissue. These tumours can progress to more proliferative lesions and can also eventually become malignant, giving rise to a Malignant Peripheral Nerve Sheath Tumour (MPNST). The authors describe a rare case involving a 27-year-old female who presented with swelling on the left forearm in the surgery Outpatient Department (OPD). The swelling measured 6×5 cm and was noted on the left upper forearm. The overlying skin appeared normal, with no evident pulsations. Notably, a scar mark indicative of a previous surgery for a similar swelling was observed at the same site. The patient reported that the previous swelling was operated 2 years ago. Magnetic Resonance Imaging (MRI) findings indicated fusiform swelling in the mid-forearm, possibly originating from the ulnar nerve with significant involvement of the adjacent structures. This case underscores the complexity and diagnostic challenges associated with such swellings, necessitating thorough examination and ongoing monitoring for timely intervention. This case highlights the importance of thorough clinical evaluation, histopathological examination, and molecular analysis in accurately characterising such tumours, guiding clinical management decisions, and ensuring optimal patient outcomes. The diagnostic evaluation and analysis of such swellings contribute invaluable information regarding their proliferation rate and propensity for malignant progression. This comprehensive understanding aids clinicians in tailoring management approaches that prioritise minimal invasiveness while effectively addressing the potential for malignancy, thus optimising patient care.https://jcdr.net/articles/PDF/20571/70068_CE[Ra1]_F(SHU)_Ref_Pat(SL)_PF1(KB_SL_OM)_redo_PFA(IS)_PN(IS).pdfforearmmalignant peripheral nerve sheath tumourneurofibromatosisschwannomaswelling
spellingShingle Apoorva Pande
Samarth Shukla
Sourya Acharya
Pravin Gadkari
Milind Pande
A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma
Journal of Clinical and Diagnostic Research
forearm
malignant peripheral nerve sheath tumour
neurofibromatosis
schwannoma
swelling
title A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma
title_full A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma
title_fullStr A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma
title_full_unstemmed A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma
title_short A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma
title_sort case of atypical neurofibromatous neoplasm of uncertain biologic potential unravelling the enigma
topic forearm
malignant peripheral nerve sheath tumour
neurofibromatosis
schwannoma
swelling
url https://jcdr.net/articles/PDF/20571/70068_CE[Ra1]_F(SHU)_Ref_Pat(SL)_PF1(KB_SL_OM)_redo_PFA(IS)_PN(IS).pdf
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