SELF-ASSESSMENT MODULE REFERENCE SPR 2018 Oncologic Imaging Course – Rare Tumors of Childhood November 10, 2018 • 1:20 – 3:10 p.m.
Imaging of Melanoma Sue Kaste, DO
1. Which of the following statements is true regarding pediatric malignant melanoma?
A. The main predictor of outcome is the stage of disease at the time of diagnosis B. Melanoma is a disease seen only in Caucasians C. Spitzoid melanomas who lack the TERT promotor mutation have a poorer prognosis D. The majority of congenital melanocytic nevi undergo malignant degeneration to melanoma
Correct Answer: A. The main predictor of outcome is the stage of disease at the time of diagnosis
Rationale: Disease stage at the time of diagnosis is the main predictor of outcome. The lower the stage, the better the outcome. Option B is not correct. Melanoma is more common in Caucasians but can develop in any race. It is 5-times more common in Caucasians than Hispanics and 20-times more common in Caucasians than African Americans. Option C. is not correct. Spitzoid melanomas who lack the TERT promotor mutation have a much better prognosis than do those with the TERT promotor mutation. The latter mutation is associated with aggressive behavior and a higher tendency for metastasis and death from disease. Option D. is not correct. Only about 5-10% of congenital melanocytic nevi become melanoma.
References:
1. Halalsheh H, Kaste SC, Navid F, Bahrami A, Shulkin BL, Rao B, Kunkel M, Artz N, Pappo A. The role of routine imaging in pediatric cutaneous melanoma.Pediatr Blood Cancer. 2018 Aug 19:e27412. doi: 10.1002/pbc.27412. [Epub ahead of print] PMID:30124237 2. Lee S, Barnhill RL, Dummer R, Dalton J, Wu J, Pappo A, Bahrami A. TERT Promoter Mutations Are Predictive of Aggressive Clinical Behavior in Patients with Spitzoid Melanocytic Neoplasms. Sci Rep. 2015 Jun 10;5:11200. doi: 10.1038/srep11200.PMID:26061100 3. Bahrami A, Barnhill RL. Pathology and genomics of pediatric melanoma: A critical reexamination and new insights. Pediatr Blood Cancer. 2018 Feb;65(2). doi: 10.1002/pbc.26792. Epub 2017 Sep 12. PMID:28895292 4. Stefanaki C, Chardalias L, Soura E, Katsarou A, Stratigos A. Paediatric melanoma. J Eur Acad Dermatol Venereol. 2017 Oct;31(10):1604-1615. doi: 10.1111/jdv.14299. Epub 2017 May 22.PMID:28449284
Pleuropulmonary Blastoma and DICER1 Syndrome R. Paul Guillerman, MD
2. Which of the following raises the likelihood that a lung cyst in a child represents a cystic congenital lung malformation rather than a cystic pleuropulmonary blastoma (PPB)?
A. Cyst multifocality B. Spontaneous pneumothorax C. Presence on mid-2nd-trimester prenatal ultrasound D. Family history of lung cysts
Correct Answer: C. Presence on mid-2nd-trimester prenatal ultrasound
Rationale: Since cystic PPBs and cystic congenital lung malformations are very similar in appearance on imaging but the decision regarding surgical management of these lesions may differ, particularly in an asymptomatic child, it is important to recognize features that favor one versus the other. Congenital cystic lung malformations are often manifest on mid-2nd-trimester prenatal ultrasound exams, while cystic PPBs are typically first identified postnatally or on third trimester prenatal ultrasound exams. Cyst multifocality, spontaneous pneumothorax, or a family history of lung cysts or other DICER1 syndrome- related conditions increases the likelihood that a lung cyst in a child represents a cystic PPB rather than a cystic congenital lung malformation.
References:
1. Priest JR, Williams GM, Hill DA, Dehner LP, Jaffé A. Pulmonary cysts in early childhood and the risk of malignancy. Pediatr Pulmonol. 2009;44:14-30 2. Oliveira C, Himidan S, Pastor AC, Nasr A, Manson D, Taylor G, et al. Discriminating preoperative features of pleuropulmonary blastomas (PPB) from congenital cystic adenomatoid malformations (CCAM): a retrospective, age-matched study. Eur J Pediatr Surg. 2011;21:2-7 3. Feinberg A, Hall NJ, Williams GM, Schultz KA, Miniati D, Hill DA, et al. Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features? J Pediatr Surg. 2016;51:33-37 4. Waelti SL, Garel L, Dal Soglio D, Rypens F, Messerli M, Dubois J. Neonatal congenital lung tumors - the importance of mid-second-trimester ultrasound as a diagnostic clue. Pediatr Radiol 2017;47:1766-1775
Desmoplastic Small Round Cell Tumor: What the Radiologist Needs to Know Anita P. Price, MD, FACR
3. Desmoplastic small round cell tumor is associated with which of the following gene fusions:
A. EWS - ATF1 B. EWS - WT1 C. TFE3 - ASPL
D. SSX1 – SYT
Correct Answer: B. EWS - WT1
Rationale: Fusion of the Ewing sarcoma gene (EWS) with Wilms Tumor1 suppressor gene (WT1), resulting from a characteristic translocation (11;22) (p13;q12) translocation. Options A, C and D are incorrect. Clear cell sarcoma is associated with EWS-ATF1 gene fusion. Alveolar soft part sarcoma is associated with TFE3- ASPL gene fusion. Synovial sarcoma is associated with SSX1 – SYT.
References: 1. Gerald WL, Rosai J (1989) Case 2. Desmoplastic small cell tumor with divergent differentiation. Pediatr Pathol 9:177–183 2. Ladanyi, M. & Gerald, W. Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor. Cancer Res 54, 2837-2840 (1994). 3. Gerald WL, Ladanyi M, de Alava E et al (1998) Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): desmoplastic small round-cell tumor and its variants. J Clin Oncol 16: 3028–3036 4. Gerald, W.L., Rosai, J. & Ladanyi, M. Characterization of the genomic breakpoint and chimeric transcripts in the EWS-WT1 gene fusion of desmoplastic small round cell tumor. Proc Natl Acad Sci U S A 92, 1028-1032 (1995) 5. Abruzzo, L.V., Pollock, R.E. , Lee, S., Czerniak, B., Lazar, A. Molecular Diagnosis of Sarcomas Chromosomal Translocations in Sarcomas. Arch Pathol Lab Med. Volume 130:1199–1207, August 2006.
4. Axial and coronal CT images of a 7 yo male with no previous medical history. Which of the following is the least likely diagnosis?
A. Burkitt Lymphoma B. DSRCT C. Nephroblastomosis D. Angiomyolipoma
Correct Answer: D. Angiomyolipoma
Rationale: Angiomyolipoma is an uncommon benign renal neoplasm in children containing mature adipose tissue, smooth muscle, and abnormal blood vessels. Varying amounts of fat are present. 80% patients with Tuberous Sclerosis have angiomyolipoma. 90% of angiomyolipomas which are not associated with Tuberous Sclerosis present as solitary unilateral lesions. The lesions in this child are bilateral and do not contain fat. The child has no significant prior medical history to suggest tuberous sclerosis. A. Burkitt lymphoma may involve the kidney as multifocal hypodense renal lesions. B. DSRCT can involve the kidney as hypodense lesions. A delayed right nephrogram raises the question of a pelvis mass causing distal ureteral obstruction. Axial image through the pelvis of same patient demonstrates large heterogenous retrovesical pelvic mass with punctate calcification. Patient has pathologically confirmed DSRCT. C. Nephroblastomatosis can present as hypodense peripheral cortical lesions.
References:
1. Edward Y. Lee. CT imaging of mass-like renal lesions in children. Pediatric Radiology, 2007, Volume 37, Number 9, Page 896. 2. Wang LL1, Perlman EJ, Vujanic GM, Zuppan C, Brundler MA, Cheung CR, Calicchio ML, Dubois S, Cendron M, Murata-Collins JL, Wenger GD, Strzelecki D, Barr FG, Collins T, Perez-Atayde AR, Kozakewich H.. Desmoplastic small round cell tumor of the kidney in childhood. Am J Surg Pathol. 2007 Apr;31(4):576-84 3. Vandan Caur Arora, Anita P. Price, Stephen Fleming, Michael J. Sohn, Heather Magnan, Michael P. LaQuaglia, Sara Abramson. Characteristic imaging features of desmoplastic small round cell tumour. Pediatric Radiology, 2013, Volume 43, Number 1, Page 93
Ovarian Tumors of Childhood Shailee V. Lala, MD
5. The most common ovarian tumor in children is:
A. Sclerosing stromal tumor B. Mature cystic teratoma C. Dysgerminoma D. Serous cystadenoma
Correct Answer: B. Mature cystic teratoma
References:
Brown MF, Hebra A, McGeehin K, Ross AJ III. Ovarian masses in children: a review of 91 cases of malignant and benign masses. J Pediatr Surg 1993; 28:930–933. Epelman M., Chikwava K. R., Chauvin N., Servaes S. Imaging of pediatric ovarian neoplasms. Pediatric Radiology. 2011;41(9):1085–1099.
6. What percentage of ovarian dysgerminomas are bilateral?
A. 0-5% B. 10-15% C. 45-50% D. 70-75%
Correct Answer: B. 10-15%
References:
Epelman M1, Chikwava KR,et al.Imaging of pediatric ovarian neoplasms.Pediatr Radiol. 2011 Sep;41(9):1085-99