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Osteosarcoma is the most common malignant bone tumor in adolescents and young adults. Most osteosarcomas are sporadic but the risk of osteosarcoma is also increased by germline variants in TP53, RB1 and RECQL4 genes. ATRX germline variations are responsible for the rare genetic disorder X-linked alpha-thalassemia mental retardation (ATR-X) syndrome characterized by severe developmental delay and alpha-thalassemia but no obvious increased risk of cancer. Here we report two children with ATR-X syndrome who developed osteosarcoma. Notably, one of the children developed two osteosarcomas separated by 10 years. Those two cases raise the possibility that ATRX germline variant could be associated with an increased risk of osteosarcoma.

Prednisone (PDN) in juvenile dermatomyositis (JDM), alone or in association with other immunosuppressive drugs, namely methotrexate (MTX) and cyclosporine (CSA), represents the first-line treatment option for new onset JDM patients. No clear evidence based guidelines are actually available to standardize the tapering and discontinuation of glucocorticoids (GC) in JDM. Aim of our study was to provide an evidence-based proposal for GC tapering/discontinuation in new onset juvenile dermatomyositis (JDM), and to identify predictors of clinical remission and GC discontinuation. New onset JDM children were randomized to receive either PDN alone or in combination with methotrexate (MTX) or cyclosporine (CSA). In order to derive steroid tapering indications, PRINTO/ACR/EULAR JDM core set measures (CSM) and their median absolute and relative percent changes over time were compared in 3 groups. Group 1 included those in clinical remission who discontinued PDN, with no major therapeutic changes (MTC) (reference group) and was compared with those who did not achieve clinical remission, without or with MTC (Group 2 and 3, respectively). A logistic regression model identified predictors of clinical remission with PDN discontinuation. Based on the median change in the CSM of 30/139 children in Group 1, after 3 pulses of methyl-prednisolone, GC could be tapered from 2 to 1 mg/kg/day in the first two months from onset if any of the CSM decreased by 50–94%, and from 1 to 0.2 mg/kg/day in the following 4 months if any CSM further decreased by 8–68%, followed by discontinuation in the ensuing 18 months. The achievement of PRINTO JDM 50–70-90 response after 2 months of treatment (ORs range 4.5–6.9), an age at onset > 9 years (OR 4.6) and the combination therapy PDN + MTX (OR 3.6) increase the probability of achieving clinical remission (p

Adipocytic tumors are rare in children and are mostly benign. Less than 25 cases of pediatric well-differentiated liposarcoma (WDLPS), atypical lipomatous tumors (ALT), and dedifferentiated liposarcoma (DDLPS) have been reported. Among them, only three cases were genetically analyzed. We describe the genetic features of a rapidly growing adipose tumor that occurred in the thigh of a 7-year-old girl. Histologically, it was composed of mature adipocytic cells with a few atypia. Molecular analysis showed high-level amplification of the 12q13-21 region including MDM2 among 64 amplified genes. MDM2 amplification is a diagnostic hallmark of ALT/WDLPS/DDLPS. In adult cases, it is typically located in ring or giant marker chromosomes. In the present case, extra-copies of MDM2 were located on double minute chromosomes (dmin). This raised the hypothesis of dmin being precursors of adult's rings and giant markers and may provide indications for a better understanding of the mechanisms of adipose tumor oncogenesis.

Background Efficacy and role of cytoreductive surgery (CRS) and hyperthermic peritoneal perfusion with chemotherapy (HIPEC) remain poorly documented in pediatric tumors. Methods This retrospective national study analyzed all pediatric patients with peritoneal tumor spread treated by CRS and HIPEC as part of a multimodal therapy in France from 2001 to 2015. Results Twenty-two patients (nine males and 13 females) were selected. The median age at diagnosis was 14.8 years (4.2-17.6). Seven had peritoneal mesotheliomas; seven, desmoplastic small round cells tumors (DSRCT); and eight, other histologic types. A complete macroscopic resection (CC-0, where CC is completeness of cytoreduction) was achieved in 16 (73%) cases. Incomplete resections were classified as CC-1 in four (18%) cases and CC-2 in two (9%) cases. Fourteen (64%) patients had complications within 30 days from HIPEC, requiring an urgent laparotomy in eight (36%) cases. Thirteen (59%) patients received adjuvant chemotherapy and four (18%) received total abdominal radiotherapy after surgery. Sixteen (72%) patients had relapse after a median time of 9.6 months (1.4-86.4) and nine (41%) eventually died after a median time of 5.3 months (0.1-36.1) from relapse. Six (27%) patients (four mesotheliomas, one pseudopapillary pancreatic tumor, and one DSRCT) were alive and in complete remission after a median follow-up of 25.0 months (5.3-78.2). The mean overall survival (OS) and disease-free survival (DFS) were 57.5 months (95% CI [38.59-76.32]) and 30.9 months (95% CI [14.96-46.77]). Patients with a peritoneal mesothelioma had a significantly better OS (p = 0.015) and DFS (p = 0.028) than other histologic type. Conclusions In this national series, outcomes of HIPEC are encouraging for the treatment of peritoneal mesothelioma in children.

International audience; A 5-year-old girl with failure to thrive and multiorgan disease was referred to our center for chronic hypoxemia. On evaluation, we noted tachypnea (respiratory rate 35/min), supraclavicular retractions, median diurnal oxygen saturation as measured by pulse oximetry (Sp O 2) = 91.7% at rest, percentage of time below Sp O 2 90% at 26% during sleep, and clubbing. A computed tomography scan showed diffuse interstitial lung disease (Figure 1). Spirometry was normal (TLC, 83% of predicted; FEV 1 , 83% of predicted; FEV 1 /FVC, 98%; and forced expiratory flow, midexpiratory phase, 142% of predicted), but it was not possible to measure DL CO .

Congenital dyserythropoietic anemia type I (CDA I) is a rare disorder of erythropoiesis. The objective of this study was to describe the clinical and laboratory manifestations, the diagnosis procedure, the therapeutic approaches and outcome in CDA I. The 12 patients included belong to the retrospective French Multicenter Study. Clinical and biologic data were compiled. Biologic tests included light and, in some cases, electron microscopy, ektacytometry, and red cell membrane protein electrophoresis. Neonatal manifestations (anemia, early jaundice, and/or splenomegaly) and bone abnormalities were present in 11 of the 12 and 6 of the 12 patients, respectively. CDA I was initially misdiagnosed in four children. By the time of diagnosis, anemia with reticulocytosis lower than expected in a hemolytic anemia was present in all patients. Bone marrow electron microscopy examination revealed characteristic findings in all nine children. Red cell membrane protein 4.1 was reduced in all five children. At least one transfusion was required in 11 of the 12 children. Interferon alpha2 corrected anemia in the three children who received monthly transfusions. CDA I is commonly misdiagnosed in children. It should be sought in patients with unexplained chronic anemia, especially when associated with neonatal manifestations, jaundice, splenomegaly, subnormal or low reticulocytosis, and congenital bone malformations.

Nephrogenic adenofibroma is a benign renal tumor in children and young adults described by Hennigar and Beckwith in 1992. Seven cases have been described, and we report the first case in an 11-month-old child, in good health, revealed by a macroscopic hematuria. Nephrogenic adenofibroma is an unusual tumor, which was difficult to distinguish from nephroblastoma and mesoblastic nephroma. Beckwith makes a distinction between this principal differential diagnosis in child renal tumors based upon morphologic and immunohistochemical patterns. In our observation, the diagnosis remained difficult and needed several reviews of our case. Beckwith proposed the final diagnosis: nephrogenic adenofibroma with stromal predominance. The prognosis is excellent and no treatment is indicated. A FISH analysis of the tumor cells found a trisomy 11. Trisomy 11 has been reported in mesoblastic nephroma as the most frequent chromosomal abnormality. This finding in tumor cells provides an argument for excluding the diagnosis of nephroblastoma but can not clarify the difference between nephrogenic adenofibroma and mesoblastic nephroma.

Apert syndrome is an autosomal dominant disorder that results from gain-of-function mutations in the FGFR2 gene. FGFR2 also has been shown to be amplified in stomach and breast cancers. We report the case of a 13-year-old female with Apert syndrome who developed an ovarian dysgerminoma. The FGFR2 exon 7 sequencing showed the classical Apert syndrome c.758C > G transversion (p.Pro253Arg). The genomic analyses of the tumor cells showed low level gains and losses of several chromosomes. This is the second report of the association of Apert syndrome with cancer. Our observation raises the hypothesis of a role for FGFR2 mutations in tumorigenesis.

Juvenile ossifying fibroma is a rare benign tumour of childhood. It is hardly distinguishable from others fibro-osseous lesions because of their overlapping microscopic features. Juvenile variant of ossifying fibroma may be mistaken for malignancy, particularly osteosarcoma. Radiology is central to their diagnosis because of the very limited nature of the tumour. Microscopically, the lack of cytologic atypia or abnormal mitosis, and the presence of bone maturation or cementum deposits are consistent with an ossifying fibroma. This entity should be kept in mind regarding any bone lesion jaws in children.

Papillary meningioma (MP) is a rare and aggressive variant of meningioma, occurring preferentially in young subjects. Histopathological features of papillary meningiomas are characterized by papillary or perivascular pseudorosette patterns. We report the case of a right frontal MP in a 16-year-old boy. Differential diagnosis included other primitive or secondary intracranial papillary neoplasms. MP diagnosis should not be missed due to its aggressive behavior with brain invasion, local recurrence and metastases.

The authors report a case of primary bronchogenic squamous cell carcinoma (SCC) revealed by recurrent pneumonia in an 11-year-old boy. Four years after complete surgical resection followed by external radiotherapy, the patient is currently relapse- and metastasis-free. To our knowledge, this is only the sixth pediatric case of primary bronchogenic SCC reported to date. © 1995 Wiley-Liss, Inc.