Multiple pulmonary spindle cell hemangiomas with IDH1 mutation in Maffucci syndrome
Maffucci syndrome is characterized by multiple enchondromas and vascular lesions including spindle cell hemangiomas that typically arise in cutaneous or soft tissue of the extremities. The pathogenesis involves sporadic mutations in IDH1/2 genes that occur early during embryogenesis leading to mosai...
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| Published in: | Human Pathology Reports Vol. 42; p. 300796 |
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| Main Authors: | , , , , |
| Format: | Journal Article |
| Language: | English |
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01.11.2025
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| Abstract | Maffucci syndrome is characterized by multiple enchondromas and vascular lesions including spindle cell hemangiomas that typically arise in cutaneous or soft tissue of the extremities. The pathogenesis involves sporadic mutations in IDH1/2 genes that occur early during embryogenesis leading to mosaicism in affected tissues. The prognosis is variable in Maffucci syndrome, and patients have an increased risk of developing malignancies. We present a rare case of multiple spindle cell hemangiomas of the lung in a 41-year-old woman with Maffucci syndrome. She was found to have numerous lung nodules that were slowly progressive on surveillance CT imaging. The radiologic differential diagnosis included diffuse neuroendocrine cell hyperplasia (DIPNECH) with multiple carcinoid tumors and pulmonary metastases. A diagnosis of spindle cell hemangiomas was made following surgical lung wedge biopsy, and PCR detected an IDH1 mutation in codon 132. Annual surveillance whole body and brain MRI showed no new or enlarging lesions one year after her lung biopsy. In conclusion, spindle cell hemangiomas are a rare cause of pulmonary nodules and may arise in the setting of Maffucci syndrome. The lungs are a common site of metastasis from malignancies associated with Maffucci syndrome, but other entities should be kept in the differential diagnosis and may require biopsy for definitive diagnosis. |
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| AbstractList | Maffucci syndrome is characterized by multiple enchondromas and vascular lesions including spindle cell hemangiomas that typically arise in cutaneous or soft tissue of the extremities. The pathogenesis involves sporadic mutations in IDH1/2 genes that occur early during embryogenesis leading to mosaicism in affected tissues. The prognosis is variable in Maffucci syndrome, and patients have an increased risk of developing malignancies. We present a rare case of multiple spindle cell hemangiomas of the lung in a 41-year-old woman with Maffucci syndrome. She was found to have numerous lung nodules that were slowly progressive on surveillance CT imaging. The radiologic differential diagnosis included diffuse neuroendocrine cell hyperplasia (DIPNECH) with multiple carcinoid tumors and pulmonary metastases. A diagnosis of spindle cell hemangiomas was made following surgical lung wedge biopsy, and PCR detected an IDH1 mutation in codon 132. Annual surveillance whole body and brain MRI showed no new or enlarging lesions one year after her lung biopsy. In conclusion, spindle cell hemangiomas are a rare cause of pulmonary nodules and may arise in the setting of Maffucci syndrome. The lungs are a common site of metastasis from malignancies associated with Maffucci syndrome, but other entities should be kept in the differential diagnosis and may require biopsy for definitive diagnosis. AbstractMaffucci syndrome is characterized by multiple enchondromas and vascular lesions including spindle cell hemangiomas that typically arise in cutaneous or soft tissue of the extremities. The pathogenesis involves sporadic mutations in IDH1/2 genes that occur early during embryogenesis leading to mosaicism in affected tissues. The prognosis is variable in Maffucci syndrome, and patients have an increased risk of developing malignancies. We present a rare case of multiple spindle cell hemangiomas of the lung in a 41-year-old woman with Maffucci syndrome. She was found to have numerous lung nodules that were slowly progressive on surveillance CT imaging. The radiologic differential diagnosis included diffuse neuroendocrine cell hyperplasia (DIPNECH) with multiple carcinoid tumors and pulmonary metastases. A diagnosis of spindle cell hemangiomas was made following surgical lung wedge biopsy, and PCR detected an IDH1 mutation in codon 132. Annual surveillance whole body and brain MRI showed no new or enlarging lesions one year after her lung biopsy. In conclusion, spindle cell hemangiomas are a rare cause of pulmonary nodules and may arise in the setting of Maffucci syndrome. The lungs are a common site of metastasis from malignancies associated with Maffucci syndrome, but other entities should be kept in the differential diagnosis and may require biopsy for definitive diagnosis. |
| ArticleNumber | 300796 |
| Author | Carroll, Melissa B. Fels Elliott, Daffolyn Rachael Nataraj, Kavya Powers, Benjamin C. Madan, Rashna |
| Author_xml | – sequence: 1 givenname: Daffolyn Rachael surname: Fels Elliott fullname: Fels Elliott, Daffolyn Rachael email: dfelselliott@kumc.edu organization: Department of Pathology and Laboratory Medicine, The University of Kansas Health System, Kansas City, United States – sequence: 2 givenname: Kavya surname: Nataraj fullname: Nataraj, Kavya organization: School of Medicine, Kansas University Medical Center, Kansas City, United States – sequence: 3 givenname: Melissa B. surname: Carroll fullname: Carroll, Melissa B. organization: Department of Radiology, The University of Kansas Health System, Kansas City, United States – sequence: 4 givenname: Rashna surname: Madan fullname: Madan, Rashna organization: Department of Pathology and Laboratory Medicine, The University of Kansas Health System, Kansas City, United States – sequence: 5 givenname: Benjamin C. surname: Powers fullname: Powers, Benjamin C. organization: Division of Medical Oncology, Department of Internal Medicine, The University of Kansas Health System, Kansas City, United States |
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| Cites_doi | 10.1038/ng.1004 10.1002/rcr2.1057 10.1186/s13104-016-1913-x 10.1002/ajmg.a.61530 10.1016/j.ajpath.2013.01.012 10.1016/j.anndiagpath.2010.03.001 10.1634/theoncologist.2011-0200 10.1016/j.bone.2024.117221 10.1186/s13019-019-0906-y 10.1038/ng.994 |
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| Keywords | IDH1 mutation Spindle cell hemangioma Enchondroma Maffucci syndrome Lung |
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| Snippet | Maffucci syndrome is characterized by multiple enchondromas and vascular lesions including spindle cell hemangiomas that typically arise in cutaneous or soft... AbstractMaffucci syndrome is characterized by multiple enchondromas and vascular lesions including spindle cell hemangiomas that typically arise in cutaneous... |
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| SubjectTerms | Enchondroma IDH1 mutation Lung Maffucci syndrome Pathology Spindle cell hemangioma |
| Title | Multiple pulmonary spindle cell hemangiomas with IDH1 mutation in Maffucci syndrome |
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