The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.

BACKGROUND: Noonan syndrome (NS) due to the RRAS2 gene, the pathogenic variant is an extremely rare RASopathies. Our objective was to identify the potential site of RRAS2, combined with the literature review, to find the correlation between clinical phenotype and genotype. De novo missense mutations affect different aspects of the RRAS2 function, leading to hyperactivation of the RAS-MAPK signaling cascade. METHODS: Conventional G-banding was used to analyze the chromosome karyotype of the patient. Copy number variation sequencing (CNV-seq) was used to detect the chromosomal gene microstructure of the patient and her parents. The exomes of the patient and her parents were sequenced using trio-based whole exome sequencing (trio-WES) technology. The candidate variant was verified by Sanger sequencing. The pathogenicity of the variant was predicted with a variety of bioinformatics tools. RESULTS: Chromosome analysis of the proband revealed 46, XX, and no abnormality was found by CNV-seq. After sequencing and bioinformatics filtering, the variant of RRAS2(c.67G>T; p. Gly23Cys) was found in the proband, while the mutation was absent in her parents. To the best of our knowledge, our patient was with the typical Noonan syndrome, such as short stature, facial dysmorphism, and developmental delay. Furthermore, our study is the first case of NS with embryonal rhabdomyosarcoma (ERMS) caused by the RRAS2 gene mutation reported in China. CONCLUSIONS: Our investigations suggested that the heterozygous missense of RRAS2 may be a potential causal variant in a rare cause of Noonan syndrome, expanding our understanding of the causally relevant mutations for this disorder.

A Case of Intratemporal Rhabdomyosarcoma in a Child Presenting with VIIth, IXth, and Xth Cranial Nerve Paralysis.

OBJECTIVE: Rhabdomyosarcoma is the most common soft tissue tumor in children, with average age of onset being 5 years, and approximately 70% cases diagnosed below 10 years of age. It accounts for 37% of primary head and neck malignancies in children. Chemotherapy with surgery, and radiation is selected as the primary treatment. We report a rare case of rhabdomyosarcoma in the temporal bone presenting with glossopharyngeal and vagus nerve paralysis as well as facial palsy. CASE REPORT: The patient was a 6-year-old boy, and his initial symptom was dizziness followed by facial palsy and hoarseness. Although a severe type of otitis media was suspected in the first clinic, CT and MRI showed a temporal bone tumor with parameningeal extension. Biopsy with cortical mastoidectomy revealed an embryonal-type rhabdomyosarcoma. Pretreatment re-excision was abandoned because of parameningeal involvement. The tumor disappeared after a series of chemotherapy, however, meningeal dissemination occurred, and he eventually died even after an additional administration of anti-cancer agents and intensive modulated radiation therapy. CONCLUSION: In the case of facial palsy concomitant with other cranial nerve paralysis, care must be taken into neoplastic origin. Early image diagnosis may offer a chance of complete resection in addition to chemoradiotherapy.

An unusual case of pediatric embryonal rhabdomyosarcoma with subsequent diagnosis of neurofibromatosis type 1.

A 10-month-old girl presented with a 4-month history of a rapidly growing lesion on the lower lip. Initial assessment and Doppler ultrasound supported a diagnosis of pyogenic granuloma. However, emergent biopsy revealed an embryonal rhabdomyosarcoma, a highly malignant tumor commonly associated with cancer-susceptible syndromes including neurofibromatosis type 1 (NF1). Despite having no apparent clinical features of NF1 at initial presentation, she was later found to have multiple café-au-lait spots and a subsequent diagnosis of NF1 was made.

[Rhabdomyosarcoma of the common bile duct mimicking choledochal cyst: a rare cause of obstructive jaundice].

Extrahepatic biliary tract tumors are rare and among them rhabdomyosarcoma is most common. Rhabdomyosarcoma is a soft tissue malignant musculoskeletal tumor and is a very rare malignancy of the common bile duct in children. It usually presents as obstructive jaundice and/or pruritus. If there is no local invasion to the adjacent tissues, the radiological appearance of the tumor lesion is like a choledochal cyst. So the diagnosis is usually made at surgery or by preoperative biopsy. It is important to diagnose early and differentiate it from choledochal cyst and start treatment as early as possible for long time survival of the patient. This case report presented a case of a 10-year-old boy with recurrent onset of obstructive jaundice and fever preoperatively who was diagnosed as choledochal cyst and postoperatively as embryonal rhabdomyosarcoma of the common bile duct. After surgical resection and postoperative chemotherapy, the child had a good prognosis. So it is crucial to know that this rare tumor can mimic congenital choledochal cyst and it should be considered in the differential diagnosis of obstructive jaundice in children.

Somatic DICER1 Mutations in a Pubertal Girl with Cervical Embryonal Rhabdomyosarcoma and Papillary Thyroid Adenoma.

BACKGROUND: DICER1 syndrome is an inherited tumor predisposition syndrome. A germline mutation in DICER1 increases the risk for a spectrum of rare tumors. We describe a case of somatic DICER1 mutation in a pubertal girl, who is affected by different tumors of the DICER1 syndrome, including embryonal rhabdomyosarcoma (ERMS) of the cervix and thyroid adenoma. CASE: A 16-year-old girl with history of papillary thyroid adenoma presented with abnormal vaginal bleeding and an exophytic cervical mass on examination. Histopathologic examination confirmed cervical ERMS. By using Sanger sequencing of the tumor, we identified 1 DICER1 mutation (c.3937delG). SUMMARY AND CONCLUSION: This report suggests that a patient with these 2 unrelated tumors (ERMS and papillary thyroid adenoma) should be promptly tested for DICER1 gene mutations.

One-Step Lower Leg Reconstruction with Vascularized Functional Vastus Lateralis Muscle Flap in the Treatment of Embryonal Rhabdomyosarcoma for a Six-Month-Old Boy: A Case Report.

Rhabdomyosarcoma (RMS) is a common soft tissue sarcoma in childhood, however, it is very rare in the neonatal period (0.4-2% of cases). This case depicts a boy, who presented with RMS at two weeks of age, but officially diagnosed at the age of three months. MRI and scintigraphy determined a soft tissue tumor in the soleus muscle, while biopsy confirmed embryonal RMS with high mitotic activity (Ki67 (monoclonal antibodies) ~80%). CWS (Cooperative Weichteilsarkom Studiengruppe)-2012 with I2VA (ifosfamide, vincristine, actinomycin) chemotherapy regimen was administered per protocol. Surgical treatment was performed at age of six months and 18 days. The operation consisted of radical tumor resection and total triceps surae with partial fibula resection. Immediate reconstruction of triceps muscle was accomplished using a vascularized functional musculocutaneous vastus lateralis flap. Functional outcome was measured using the Lower Extremity Functional Scale (LEFS) and the Foot and Ankle Outcome Score (FAOS) with the results of 92.5% and 99% respectively.

Laparoscopic Bladder-Sparing Approach in Patients with Prostatic Rhabdomyosarcoma: A Case Series of Two Pediatric Patients.

Traditionally, the standard treatment of bladder-prostate rhabdomyosarcoma (BP-RMS) is being implemented to be total cystoprostatectomy and urinary diversion. However, current multimodal treatment approaches emphasize the importance of bladder-sparing surgery. In this case series, it was aimed to indicate the results of the laparoscopic bladder-sparing approach of two pediatric patients with BP RMS. They have admitted to the emergency department due to acute urinary retention (AUR). The tumors located in the prostate causing AUR were detected by Magnetic resonance imaging (MRI) and the pathological diagnosis was confirmed by biopsy. The patients were managed in a prosperous manner by implementing laparoscopic surgery with the cause of detection of a significant decrease in the size as well as the enhancement pattern of the tumors following neoadjuvant chemotherapy. No urinary incontinence, tumor recurrence or metastasis was observed at 36 and 28 months follow-up in case 1 and case 2, respectively. Laparoscopic bladder-sparing approaches may have an advantage in patients with BP RMS to decrease morbidity and mortality related to radical surgery. To our knowledge, these are the first cases of laparoscopic bladder-sparing approach in the treatment of pediatric prostate-derived embryonal RMS (PDERMS).

Embryonal rhabdomyosarcoma of urinary bladder in an adult patient: an unusual manifestation.

An adult man presented with off and on painless haematuria, which was diagnosed as bladder mass on contrast-enhanced CT. He underwent transurethral resection of bladder tumour with complete resection. A diagnosis of embryonal rhabdomyosarcoma was made following histopathology and immunohistochemistry report. The patient was planned for radical cystectomy but was found to have large recurrent infiltrating bladder mass with liver and bone metastasis. Hence, the plan for radical cystectomy was deferred and the patient was counselled regarding chemotherapy (vincristine, cisplatin and doxorubicin regime). The patient tolerated the first cycle of chemotherapy, but his condition deteriorated prior to the second cycle and the patient expired.

Prosthetic rehabilitation for a patient treated for embryonal rhabdomyosarcoma.

A female patient, now aged 17 years, was diagnosed with rhabdomyosarcoma (RMS) in the right pterygopalatine fossa when she was 3 years old. The RMS was successfully treated by excision, but the subsequent radiation and polychemotherapy resulted in the complete anesthesia of the distribution area of the right trigeminal nerve and loss of vision in the right eye. The patient also experienced pain in the mandibular joints and masticatory muscles. Panoramic radiographs displayed a multiple agenesia of the permanent teeth and underdeveloped apices. Treatment involved the fabrication of a complete maxillary denture. A removable device was fabricated to evaluate her response to an occlusal vertical dimension increase of 6 mm and provide a stable intercuspal position. After wearing the prosthesis for 6 months, the patient reported that she was completely free of symptoms.

Pulmonary anthracosis mimicking lung metastases in pediatric rhabdomyosarcoma.

Although childhood rhabdomyosarcoma typically metastasizes to lungs, various processes may mimic metastatic etiology. Described herein is the case of an 8½-year-old boy with orbital embryonal rhabdomyosarcoma (RME) in whom three small foci were detected within both lungs on computed tomography. The lesion number and size, however, did not fulfil the Cooperative Weichteilsarkom Study Group 2006 protocol criteria for lung metastasis. Chemotherapy for localized RME produced primary tumor regression and vanishing of the left lung lesion. Two lesions in the right lung remained unchanged. On thoracoscopy multiple minute nodules disseminated in both lungs were detected. Histopathology excluded RME spread but indicated anthracosis in the lung parenchyma and intrapulmonary lymph nodes. Heavy smoking by parents and previous home furnace combustion appeared to be predisposing factors. Uncommon non-malignant intrapulmonary diseases, including anthracosis, should be considered when staging pediatric cancer.

[Rectal prolapse revealing a tumor: The role of abdominal ultrasound]. / Prolapsus rectal révélant une tumeur : intérêt de l'échographie abdominale, à propos de 3 cas.

Rectal prolapse is rare in children and usually benign. However, there are various diseases that can be associated with it, such as cystic fibrosis or other causes of increased abdominal pressure. Here, we review the various underlying conditions that pediatricians or pediatric gastroenterologists should consider in the case of rectal prolapse. We report on three cases of children with a rectal prolapse and intra-abdominal tumors. Current recommendations and practice do not include a systematic check via abdominal imaging in cases of rectal prolapse. However, in some situations, imaging is indicated to detect a possible expansive process. Thus, in the presence of recurrent prolapse or of associated urinary or neurological signs, imaging is justified so as to allow for an early diagnosis and treatment of these neoplasms. Given its lack of radiation exposure and good sensitivity in children, ultrasound imaging is the first choice.

Cervical lymphadenopathy secondary to rhabdomyosarcoma presenting as Horner syndrome in an infant.

A 4-week-old boy with left ptosis, anisocoria, and a mass on his left hand was diagnosed with Horner syndrome. The diagnosis precipitated a work-up for a possible malignant etiology. Magnetic resonance imaging demonstrated enlarged left cervical and axillary lymph nodes. A biopsy of the hand lesion confirmed embryonal rhabdomyosarcoma, but a biopsy of the axillary lymph node was negative. Mechanical pressure by noncancerous enlarged lymph nodes is hypothesized to cause the Horner syndrome.