Pediatric case reports: assessing recommendations from journals' instructions to authors.

BACKGROUND: Case reports (CRs) can be valuable contributions to medical knowledge and education. Objective assessments of publication potential and content recommendations for pediatric CRs are lacking. METHODS: The "Instructions to Authors" provided by pediatric journals were assessed to determine journal characteristics, manuscript restrictions, and advice to writers. Pediatric journals referenced in the National Center for Biotechnology Information databases were identified by using the search term "pediatric." Further inclusion criteria were: active journals; currently indexed in the PubMed, Ovid, and/or Medline databases; and English as the primary language. RESULTS: Sixty-nine (52%) of 132 pediatric journals surveyed published CRs per their author instructions. The median 2011 impact factor for accepting journals was 1.28 (range: 0.47-5.44) compared with 2.40 (range: 0.59-5.50) for journals that did not publish CRs (P < .001). Twelve (67%) of 18 pediatric surgical specialty journals, 16 (55%) of 29 general pediatric journals, and 38 (51%) of 74 nonsurgical pediatric subspecialty journals published CRs. Sixteen journals had a separate Images section. Twenty-five (36%) of 69 journals provided no recommendations. Of the 44 journals that did provide recommendations, new insights/observations (64%) was the most common content recommendation, followed by clinical relevance (41%), novelty/rarity (39%), and instructive/educational value (32%). CONCLUSIONS: Approximately one-half of pediatric journals surveyed published CRs per their author instructions. Journals with lower impact factors were more likely to publish CRs. Many journals had specific formatting criteria. New insights and observations regarding relatively known pathology was the content criteria most often recommended.

Analysis of immunoglobulin heavy chain rearrangement in a child with recurrent Burkitt lymphoma to determine clonality.

BACKGROUND: Burkitt lymphoma (BL) is an aggressive, rapidly proliferating neoplasm of B-cell origin. A late recurrence should be investigated to differentiate whether it is a true relapse or a de novo lymphoma as this has therapeutic implications. OBSERVATIONS: We report an HIV-negative white male individual, who at the age of 14 presented with recurrent BL in the abdomen occurring 6 years after successful treatment. Analysis of VDJ rearrangement showed marked dissimilarity in clonal peaks between the 2 tumors, suggesting that each tumor was associated with separate origins. The second tumor was treated as a de novo BL, and the patient remained in complete remission 2 years from recurrence without any evidence of the disease. CONCLUSION: We present a case with 2 distinct BLs verified by the VDJ rearrangement analysis in a non-HIV infected individual. Our case supports the finding that a genetically discrete BL can be treated as if it were a new tumor, thereby reducing chemotherapeutic burden and treatment-related morbidity associated with the regimens for relapsed or refractory disease. Analysis of VDJ rearrangement seems to be a reliable assessment of tumor clonality.

Pediatric ovarian dysgerminoma presenting with hypercalcemia and chronic constipation: a case report.

Malignancy-associated hypercalcemia is a common finding among adult malignancies. However, the incidence of malignancy-induced hypercalcemia associated with germ cell tumor among pediatric patients is very rare. We describe a 9-year-old girl with an ovarian dysgerminoma presenting with chronic constipation and hypercalcemia. We review some of the causes of malignancy-associated hypercalcemia described in literature and treatment strategies. We also recommend considering oncological processes in the presence of hypercalcemia.

Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma--a report from the International Pleuropulmonary Blastoma Registry.

BACKGROUND AND AIMS: Ciliary body medulloepithelioma (CBME) is a rare embryonal ocular tumour of children under age 10 years. Pleuropulmonary blastoma (PPB) is a rare embryonal lung tumour in young children and the sentinel disease of the PPB Family Tumour and Dysplasia Syndrome, a distinctive predisposition leading to unusual dysontogenetic-dysplastic and neoplastic conditions in PPB patients and their relatives. Germline mutations of DICER1 gene, a key regulator of gene silencing, underlie this syndrome. CBME occurs with PPB. The authors' aim was to identify CBME cases associated with PPB. METHODS: The authors evaluated International PPB Registry and literature PPB cases for CBME, including review of pathologic specimens. RESULTS: Four CBME were observed among 550-600 PPB cases; three in patients and one in a parent. One CBME was clinically diagnosed; three were confirmed pathologically (one benign teratoid CBME; one benign non-teratoid CBME; one case, details not available). CONCLUSIONS: These observations suggest that CBME is a manifestation of the tumour predisposition associated with PPB. Paediatric oncologists and ophthalmologists should be aware that CBME can occur in PPB patients or their relatives and that CBME may indicate a hereditable tumour predisposition for a child or family.

Hemophagocytic lymphohistiocytosis presenting with nonimmune hydrops fetalis.

Hydrops fetalis is a condition of diverse etiologies. An association between hemophagocytic lymphohistiocytosis (HLH) and hydrops fetalis has not been reported in the English literature. We describe an intrauterine case of HLH in an infant who presented with hydrops fetalis at 32 weeks gestation. We suggest that HLH should be considered in the differential diagnosis of nonimmune hydrops fetalis, especially in the presence of cytopenias.

Patterns of failure in relation to radiotherapy fields in supratentorial primitive neuroectodermal tumor.

PURPOSE: Supratentorial primitive neuroectodermal tumor (PNET) accounts for 2-3% of all pediatric brain tumors. We retrospectively reviewed all supratentorial PNET cases treated with radiotherapy (RT) at our institutions. METHODS AND MATERIALS: A total of 25 patients (17 males and 8 females, median age 9 years) were treated with RT between 1980 and 2001. The primary site location was the pineal region in 7 (28%), temporal lobe in 5 (20%), thalamus in 5 (20%), frontal lobe in 4 (16%), parietal lobe in 2 (8%), and suprasellar region in 2 (8%). Five patients (20%) had neuraxis dissemination (M+ disease) at initial diagnosis. The RT treatment volumes were craniospinal (CS) in 17 (68%), whole brain (WB) followed by a boost in 2 (8%), and primary site (PS) alone in 6 (24%). The median dose to the primary site was 54 Gy (range, 31-55.8 Gy). The median dose to patients receiving WB and spinal fields was 36 Gy (range, 23.4-39.6 Gy). Sixteen patients (64%) received chemotherapy; the most common type was the "8 in 1" chemotherapy regimen in 9 children. The median follow-up of surviving patients was 70 months (range, 34-251 months). RESULTS: The 5-year and 10-year progression-free survival rate was 36% and 27%, respectively, and the median time to progression was 22 months. The 5-year and 10-year progression-free survival rate was 47.1% and 47.1% for those receiving CSRT and 12.5% and 0% for those receiving WBRT or PSRT, respectively. The 5-year and 10-year progression-free survival rate for those with M0 disease was 40.0% and 30.0%, respectively; for those with M+ disease, the corresponding figures were 20.0% and 0%. On multivariate analysis, only M status (p = 0.01) and RT volume (p = 0.02) were statistically significant according to the Cox proportional hazards model. The primary site control rate at 5 and 10 years was 62%. Failure at nontreated neuraxis sites was a common cause of progression in patients receiving WBRT or PSRT, as seen in 6 (75%) of 8 cases. Of the 17 patients undergoing CSRT, 8 had no recurrence. Eight of the nine CSRT relapses had a leptomeningeal component. Four (80%) of 5 M+ children and 4 (33%) of 12 M0 children who underwent CSRT developed recurrence in the neuraxis (p = 0.1, Fisher's exact test). CONCLUSION: The craniospinal axis is the standard volume that needs to be treated in supratentorial PNET. Leptomeningeal dissemination was the main obstacle for cure even in patients receiving CSRT, regardless of M status.