Successful treatment of spindle cell hemangiomas in a patient with Maffucci syndrome and review of literatures

Lekwuttikarn, Ramrada; Teng, Joyce

doi:10.1111/dth.12919

Cited by 13 publications

(8 citation statements)

References 15 publications

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“…SCH is a benign vascular lesion which generally locates in the subcutis at the distal extremities and presents as solitary and multifocal masses. It also can be associated with several clinical syndromes, among which Maffucci syndrome is the most common [8,9]. In several uncommon cases, SCHs have been found in lips, nasal passage, temporal muscle, and even in lungs and spleen [2,[10][11][12][13].…”

Section: Discussionmentioning

confidence: 99%

Successful outcome after intralesional curettage for spindle cell hemangioma of fibula: a case report

Ru-fa¹,

Han²,

Zhou³

2021

Preprint

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BackgroundSpindle cell hemangioma (SCH), a non-neoplastic reactive vascular lesion, rarely locates in bones. We herein report a successful case of intralesional curettage for an infant with SCH of fibula.Case presentationA 11-month-old male patient was admitted to our center with a painless mass in right proximal calf. Preoperative digital radiograph demonstrated a massive vascular lesion with an irregular bone destruction of proximal fibula. The lesion was removed via the intralesional curettage approach and pathologically diagnosed as SCH. After the surgery, the patient gained bone structure recovery of right proximal fibula. Two years after the surgery, he experienced no local recurrence.ConclusionFor the management of SCH of fibula with partial bone destruction, we suggest early-stage intralesional curettage as its safety and effectiveness.

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Section: Discussionmentioning

confidence: 99%

Successful outcome after intralesional curettage for spindle cell hemangioma of fibula: a case report

Ru-fa¹,

Han²,

Zhou³

2021

Preprint

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show abstract

“…SCH is a benign vascular lesion which generally locates in the subcutis at the distal extremities and presents as solitary and multifocal masses. It also can be associated with several clinical syndromes, among which Maffucci syndrome is the most common (8,9). In several uncommon cases, SCHs have been found in lips, nasal passage, temporal muscle, and even in lungs and spleen (2,(10)(11)(12)(13).…”

Section: Discussionmentioning

confidence: 99%

Successful Outcome After Intralesional Curettage for Spindle Cell Hemangioma of Fibula in an Infant: A Case Report

2021

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Spindle cell hemangioma (SCH), a non-neoplastic reactive vascular lesion, rarely locates in bones. We herein report a successful case of intralesional curettage for an infant with SCH of fibula. An 11-month-old boy was admitted to our center with a painless mass in the right proximal calf. Preoperative digital radiograph demonstrated a massive vascular lesion with an irregular bone destruction of proximal fibula. The lesion was removed via the intralesional curettage approach and pathologically diagnosed as SCH. The patient gained bone structure recovery of right proximal fibula. Two years after the surgery, he experienced no local recurrence. For the management of SCH of fibula with partial bone destruction, we suggest early-stage intralesional curettage as its safety and effectiveness.

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“…Traditional treatment of Maffucci syndrome has primarily been surgical, with intervention for functional impairment or progression to malignancy. Recently, sirolimus has been piloted in two published reports for treatment of vascular lesions—one without success, but the second was reported successful in combination with surgery ( Gupta et al 2019 ; Lekwuttikarn et al 2019 ).…”

Section: Discussionmentioning

confidence: 99%

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome

Brown

Stutterd

et al. 2021

Cold Spring Harb Mol Case Stud

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Maffucci Syndrome is a rare, highly variable somatic mosaic condition and well-known cancer related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported patients. Features include benign enchondroma and spindle cell hemangioma, with a recognized increased risk of various malignancies. Fewer than 200 cases have been reported, therefore accurate estimates of malignancy risk are difficult to quantify and recommended surveillance guidelines are not available. The same gain-of-function IDH1 and IDH2 variants are also implicated in a variety of other benign and malignant tumors. An adult male presented with several soft palpable lesions on the right upper limb. Imaging and histopathology raised the possibility of Maffucci syndrome. DNA was extracted from peripheral blood lymphocytes and tissue surgically resected from a spindle-cell hemangioma. Sanger sequencing and Droplet-digital PCR analysis of the IDH1 gene was performed. We identified a somatic mosaic c.394C>T (p.R132C) variant in exon 5 of IDH1, in DNA derived from hemangioma tissue at ~ 17% mutant allele frequency. This variant was absent in DNA derived from blood. This variant has been identified in the affected tissue of most reported patients with Maffucci syndrome Although the patient has a potentially targetable variant, and there is a recognized risk of malignant transformation in this condition, a decision was made not to intervene with an IDH1 inhibitor. The reasons and prospects for therapy in this condition are discussed.

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Successful treatment of spindle cell hemangiomas in a patient with Maffucci syndrome and review of literatures

Cited by 13 publications

References 15 publications

Successful outcome after intralesional curettage for spindle cell hemangioma of fibula: a case report

Successful outcome after intralesional curettage for spindle cell hemangioma of fibula: a case report

Successful Outcome After Intralesional Curettage for Spindle Cell Hemangioma of Fibula in an Infant: A Case Report

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome

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