First-Time Diagnosis After an Emergency Presentation in Children With Cancer.

AIM: To determine the prevalence rate of cancer diagnoses by an emergency route, the related risk factors and whether the emergency diagnosis was associated with poorer outcome. METHODS: Retrospective observational study with identification of patients diagnosed at the Pediatric Oncology Unit of "Sapienza" University between 2008 and 2018. The percentage of patients who received a first-time diagnosis after an emergency presentation was determined. Two-year survival and clinical factors, such as sex, age and histology, associated to emergency presentation were evaluated. RESULTS: Of 207 patients (109 girls and 98 boys; median age, 120 months), with a first-time diagnosis of solid tumor, 5.8% were diagnosed during an emergency admission after a median latency time of 2.5 days. Cases with an emergency diagnosis were younger compared with those who were diagnosed electively (median age, 30 months vs 120 months, P < 0.005). Higher prevalence rate of emergency presentation was detected in patients with lymphoma compared with those with no lymphoma disease (28.6% vs 4.1%; P < 0.0001). All patients were managed to overcome their emergency presentation, 33.3% of these died later. No statistically significant difference for 2-year overall survival was found between patients with an emergency diagnosis and those with elective diagnosis (66.7% vs 81.0%; odds ratio, 2.1; confidence interval, 0.6-7.5; P = 0.22). CONCLUSIONS: A minor but not negligible number of pediatric patients come to a first-time diagnosis of cancer as result of a life-threatening event; risk factors were younger age and lymphoma disease. The emergency event can be successfully treated, and it was not related to a poorer survival.

Abdominal Recurrence after Robotic Nephron-Sparing Surgery for Wilms Tumor in an Adult Patient.

A 31-year-old man was referred to an adult urologist for a renal polar mass that measured 7.2 cm in maximum diameter. Robotic assisted complete tumor excision for suspicious renal cell carcinoma was carried out, preserving the rest of the left kidney. Histopathology showed a Wilms tumor (WT) with positive margins. No postoperative therapy was made, and the patient shortly presented an abdominal recurrence. The patient was referred to our pediatric oncology unit; he received preoperative chemotherapy, followed by surgery (completion nephrectomy and removal of neoplastic deposits in the omentum and parietal peritoneum), postoperative chemotherapy, and abdomen radiotherapy. He is well at the 5-year follow-up. Peritoneal dissemination after laparoscopic nephron-sparing surgery (NSS) in a child with a 10-cm WT was previously reported. We suggest open NSS for large WT may be safer than laparoscopic or robotic NSS because carbon dioxide pneumoperitoneum and traumatic handling of tumor may predispose to tumor cell migration. An abdominal WT relapse in adults can be salvaged by multimodal therapy recommended by current pediatric WT guidelines.

Evaluation of Nephron-Sparing Surgery as Potential Risk Factor for Relapse in Unilateral Wilms Tumor.

BACKGROUND: The aim of the study was to assess the prognostic significance of nephron-sparing surgery (NSS) without tumor size limits as a risk factor for relapse in children with unilateral Wilms Tumor (WT). METHODS: A 28-y retrospective single-center review was performed. Prognostic relevance of age, gender, stage, histology, nephrectomy (N), and NSS was analyzed. RESULTS: Sixty-nine cases (42 females and 27 males) with WT, off-therapy from 21 to 325 mo after chemotherapy mainly based on the International Society of Pediatric Oncology trials, were treated at our institution. Five cases were excluded (three children with synchronous bilateral WT and two adults with unilateral WT). Of 64 children with unilateral WT, 51 underwent N and 13 NSS without tumor size limits. Indeed, two-thirds of children who underwent NSS presented with a tumor diameter >4 cm. Overall, nine patients (14%) had a relapse (male-to-female ratio = 1:8). Initial surgery was N in eight cases and NSS in another one. Relapse rates in N and NSS groups were 15.7% and 7.7% (P = nonsignificant), respectively; the relapse rates in N and NSS groups were 8.6% and 7.7% (P = nonsignificant) for stages I-II unilateral WT cohort, respectively. On univariate analysis, factors correlated with probability of relapse were unfavorable histology (P < 0.002) and stage III disease (P < 0.01). CONCLUSIONS: In unilateral WT, NSS, whenever feasible, does not seem to increase the risk of recurrence. A multicenter prospective trial is required to carefully evaluate this risk.

Deep Sequencing the microRNA profile in rhabdomyosarcoma reveals down-regulation of miR-378 family members.

BACKGROUND: Rhabdomyosarcoma (RMS) is a highly malignant tumour accounting for nearly half of soft tissue sarcomas in children. MicroRNAs (miRNAs) represent a class of short, non-coding, regulatory RNAs which play a critical role in different cellular processes. Altered miRNA levels have been reported in human cancers, including RMS. METHODS: Using deep sequencing technology, a total of 685 miRNAs were investigated in a group of alveolar RMSs (ARMSs), embryonal RMSs (ERMSs) as well as in normal skeletal muscle (NSM). Q-PCR, MTT, cytofluorimetry, migration assay, western blot and immunofluorescence experiments were carried out to determine the role of miR-378a-3p in cancer cell growth, apoptosis, migration and differentiation. Bioinformatics pipelines were used for miRNA target prediction and clustering analysis. RESULTS: Ninety-seven miRNAs were significantly deregulated in ARMS and ERMS when compared to NSM. MiR-378 family members were dramatically decreased in RMS tumour tissue and cell lines. Interestingly, members of the miR-378 family presented as a possible target the insulin-like growth factor receptor 1 (IGF1R), a key signalling molecule in RMS. MiR-378a-3p over-expression in an RMS-derived cell line suppressed IGF1R expression and affected phosphorylated-Akt protein levels. Ectopic expression of miR-378a-3p caused significant changes in apoptosis, cell migration, cytoskeleton organization as well as a modulation of the muscular markers MyoD1, MyoR, desmin and MyHC. In addition, DNA demethylation by 5-aza-2'-deoxycytidine (5-aza-dC) was able to up-regulate miR-378a-3p levels with a concomitant induction of apoptosis, decrease in cell viability and cell cycle arrest in G2-phase. Cells treated with 5-aza-dC clearly changed their morphology and expressed moderate levels of MyHC. CONCLUSIONS: MiR-378a-3p may function as a tumour suppressor in RMS and the restoration of its expression would be of therapeutic benefit in RMS. Furthermore, the role of epigenetic modifications in RMS deserves further investigations.

Burkitt's Lymphoma Presented as Advanced Ovarian Cancer without Evidence of Lymphadenopathy: CT and MRI Findings.

Burkitt's lymphoma is a rare non-Hodgkin's lymphoma which can occasionally involve the ovary and may cause confusion for the clinician since its presentation might mimic other much more frequent tumors. We present a case of a 23-year-old woman with sporadic Burkitt's lymphoma presented as advanced ovarian cancer with bilateral ovarian masses, peritoneal carcinomatosis, ascites, and marked elevation of CA-125. Liver involvement and atypical bone lesions, such as the cranial vault and the iliac wing, were also detected without evidence of lymphadenopathy. We describe the MRI and CT findings of simultaneous ovarian and bone lesions, which have never been reported in literature in a patient with Burkitt's lymphoma, before and after one cycle of chemotherapy. In evaluating any ovarian neoplasm in a young woman, Burkitt's lymphoma should be considered as a possibility, particularly if associated with bone lesions. MRI is the most useful tool to characterize the ovarian lesions and suggest the diagnosis before the histopathological results.