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

Correa Llano, Maria G.*; Mora, Jaume MD*; Torner, Ferran MD; Inarejos, Emilio; Cruz, Ofelia MD*

Journal of Pediatric Hematology/Oncology: April 03, 2019 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001457
Clinical and Laboratory Observations: PDF Only

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.

*Division of Pediatric Oncology

Departments of Orthopedic Surgery

Radiology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain

The authors declare no conflict of interest.

Reprints: Maria G. Correa Llano, Department of Hematology and Oncology, Division of Pediatric Oncology, Hospital Sant Joan de Déu, Passeig St Joan de Déu, Esplugues de Llobregat, 2, Barcelona 08950, Spain (e-mail:

Received July 21, 2018

Accepted January 26, 2019

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