Second Osteosarcoma in a 16-Year-old Woman Diagnosed With Rothmund-Thomson Syndrome.

Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to osteosarcoma (OS) when it is caused by concrete mutations in the RECQL4 gene. Most OSs arise sporadically, but it can also be the first manifestation of a cancer predisposition syndrome as Rothmund Thompson. The early onset, multifocality and metachronism, and a family history of the disease, may suggest a tumor predisposition syndrome. We present the case of a patient with a polymalformative syndrome, who, at 6 years of age, was diagnosed with OS in the right femur. This led to the diagnosis of a RTS type 2. She was cured and surveillance showed no sign of disease. Ten years later, the patient developed a second OS in the contralateral femur. Fortunately, she is in complete remission again after treatment. We describe our patient treatment and recommend a possible screening-surveillance for RTS type II patients.

Self-Healing Extranodal Cutaneous Rosai-Dorfman in a Child.

Sinus histiocytosis with massive lymphadenopathy, or Rosai-Dorfman disease (RDD), is commonly characterized by painless cervical lymphadenopathy. Exclusively cutaneous Rosai-Dorfman disease is rare. In the absence of massive lymphadenopathy, the nonspecific skin lesions may complicate the diagnosis. To our knowledge, the case reported herein is the youngest case of extranodal cutaneous RDD.

Results of a survey on the treatment of adolescents and young adult (AYA) sarcoma patients in Spain at present time.

INTRODUCTION: We aimed to analyse health care services for adolescents and young adults (AYA) with sarcomas in Spain. METHODS: A survey was sent to all Spanish cancer centres, including questions about demographic, facilities, and treatment strategies for AYAs with sarcomas in the last 2 years. RESULTS: Thirty-five units participated in the survey, 17 paediatric and 15 adult units. There were three specialized AYA units. First line regimen varied depending on whether the treating unit was paediatric or not, for osteosarcomas, rhabdomyosarcomas, and non-rhabdomyosarcomas. By contrast, 91.4% of Ewing sarcomas were treated according to EE2012. In the relapse setting, differences between units were higher in all tumours. Additionally, 48% of the units reported not having trials for this population. CONCLUSION: There are major differences in the treatment of AYAs with sarcomas between adult and paediatric units. Enormous efforts are needed to homogenize treatments and increase the access to innovation.

Cystosarcoma phyllodes of the breast: a case report in a 12-year-old girl.

Breast tumors in adolescents are very rare and mostly benign. Fibroadenomas are the most frequent, but within the extensive differential diagnosis, the phyllodes tumor must be mentioned, which accounts for about 1% of breast tumors and the diagnosis of which is very rare in patients younger than 20 years. There are no specific symptoms or radiological images to distinguish phyllodes tumor from fibroadenoma; therefore, histological examination is mandatory for diagnosis. Histology also allows the classification of phyllodes tumor into benign, borderline, or malignant types for appropriate surgical treatment: freemargin excision in benign tumors and mastectomy in the other two types. Fortunately, the majority of these tumors are benign, and treatment maximizes breast conservation with free infiltration margins surgery, given that this fact is the most important factor to prevent local recurrence. In this article, we describe a rare case of borderline cystosarcoma phyllodes in a 12-year-old girl.