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

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.

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

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.

Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report

Spindle cell hemangioma is a benign vascular tumor typically occurring in the dermis or subcutis of distal extremities as red–brown lesions that can grow in both size and number over time. They can be very painful and potentially disabling. A family history of cancer or previous history may be relevant and must be taken into consideration. Juxtaglomerular cell tumor (reninoma) is an extremely rare cause of secondary hypertension diagnosed mostly among adolescents and young adults. Excessive renin secretion results in secondary hyperaldosteronism. Subsequent hypokalemia and metabolic alkalosis, together with high blood pressure, are clues for clinical diagnosis. Histological examination of the excised tumor leads to a definitive diagnosis. Reninoma is found in subcapsular localization, in most cases as a solitary mass, in imaging studies of kidneys. Exceptionally, it can be located in another part of a kidney. Both spindle cell hemangioma and reninoma are extremely rare tumors in children and adolescents. Herein, the authors present a case report of a patient with hereditary BRCA1 interacting protein C-terminal helicase 1 (BRIP1) mutation, spindle cell hemangioma, and secondary hypertension caused by atypically localized reninoma.