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Case Reports
. 2020 Apr;42(3):e185-e187.
doi: 10.1097/MPH.0000000000001457.

Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor

Maria G Correa Llano  1 , Jaume Mora  1 , Ferran Torner  2 , Emilio Inarejos  3 , Ofelia Cruz  1
Affiliations
Case Reports

Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor

Maria G Correa Llano et al. J Pediatr Hematol Oncol. 2020 Apr.

Abstract

Osteopoikilosis (OPK) is a rare, benign, asymptomatic bone disease causing dense bone lesions, which could be interpreted as bone metastasis. The symmetric distribution, lack of bone destruction, and location differentiate OPK from metastatic disease. It is essential to be aware of this benign condition to prevent diagnostic errors. We present the case of a 10-year-old female patient with the concurrent diagnosis of secreting mixed germ cell tumor with Yolk Salk Tumor compound and OPK. Physical examination disclosed an abdominal mass, and blood tests showed increased alfa-fetoprotein and human chorionic gonadotropin levels. Computed tomography revealed a pelvic tumor associated with multiple radiodense lesions distributed throughout the bone skeleton. Lesions were inactive on scintigraphy and FDG-PET. Pathology of the bone showed normal bone tissue and ruled out metastasis. The patient achieved complete remission after chemotherapy and surgery and remains in continued complete remission 28 months from diagnosis. The genetic analysis confirmed the LEMD3 germline mutation confirming OPK.

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References

    1. Negi RS, Manchanda KL, Sanga S, et al. Osteopoikilosis—spotted bone disease. Med J Armed Forces India. 2013;69:196–198.
    1. Mahbouba J, Mondher G, Amira M, et al. Osteopoikilosis: a rare cause of bone pain. Caspian J Intern Med. 2015;6:177–179.
    1. Gutierrez D, Cooper KD, Mitchell AL, et al. Novel somatic mutation in LEMD3 splice site results in Buschke-Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis. Pediatr Dermatol. 2015;32:e219–e220.
    1. Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004;36:1213–1218.
    1. Zhang Y, Castori M, Ferranti G, et al. Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. Clin Genet. 2009;75:556–561.

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