SPECIAL FEATURE

SECTION EDITOR: ENID GILBERT-BARNESS, MD Pathological Case of the Month

Timothy A. Sentongo, MD; Richard I. Markowitz, MD; Pierre Russo, MD; Daniel vonAllmen, MD; David A. Piccoli, MD

26-MONTH-OLD GIRL was evaluated for than the 5th percentile at the time of consultation. The stunted growth (weight, height, and head 3-day diet record obtained at consultation revealed an circumference less than the 5th percen- average caloric intake of 121 kcal/kg per day (protein, tile for age) and a 2-month history of al- 12%; carbohydrate, 57%; fat, 31%). Loose stools alter- tered bowel patterns with perianal pain. nating with constipation characterized the altered bowel TheA decelerating growth pattern was first noted be- pattern. There was no history of mucus in stools, me- tween the ages of 6 and 12 months, when her weight and lena, or hematochezia. The perianal pain was most promi- length for age-growth percentiles fell from the 25th and nent when she sat in her car seat and immediately prior 50th, to 5th and 25th, respectively. They later fell to less to bowel movements. She was born after a full-term preg- nancy and had normal gross motor milestones, fine mo- From the Division of Gastroenterology, Hepatology, and Nutrition, tor skills, and language development. Apart from small Children’s Memorial Medical Center, Northwestern University, stature and minimal subcutaneous fat tissue, the rest of Chicago, Ill (Dr Sentongo); and the Departments of Radiology her physical examination results were within normal (Dr Markowitz), (Dr Russo), and Surgery (Dr von ranges. There was no anal fissure or other external peri- Allmen), and the Division of Gastroenterology and Nutrition anal lesion. Laboratory tests included a normal hemo- (Dr Piccoli), Children’s Hospital of Philadelphia, University of gram, hepatic panel, sweat chloride, serum vitamin E level, Pennsylvania, Philadelphia. and antigliadin/antiendomysial antibodies negative for celiac . Upper gastrointestinal endoscopy showed normal small-bowel mucosa and histology. The digital rectal examination performed prior to flexible sigmoi- doscopy (normal) revealed a firm presacral mass that was B further delineated by axial computed tomography (Figure 1). The serum ␣-fetoprotein level subse- quently obtained was 1980 ng/mL (normal range, 0.6- 11.1 ng). Histologic sections from the tumor mass re- sected at laparotomy are seen in Figure 2.

Figure 1.

A B

Figure 2.

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©2002 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/02/2021 Denouement and Discussion Type IV Sacrococcygeal With Yolk Sac (Endodermal Sinus) Tumor Presenting With Failure to Thrive and Perianal Pain

Figure 1. Axial computed tomographic scan through the (with ␣-fetoprotein. Yolk sac tumor is the most common malig- contrast enhancement) shows a large, multilobulated, heterogenously enhancing mass filling the lower pelvis and displacing bowel to the left nant in prepubertal children and may be (arrow) and indenting the posterior bladder (B) wall. histologically differentiated from embryonal on the basis of virtual nonexistence of the latter in young chil- Figure 2. A, The characteristic Schiller-Duval bodies seen in yolk sac tumors, consisting of a central fibrovascular core surrounded by a rim of dren. Yolk sac tumor is commonly, but not always, asso- primitive (hematoxylin-eosin, original magnification ϫ200). ciated with elevated serum ␣-fetoprotein levels. B, , using an anti–␣-fetoprotein antibody reveals Preoperative diagnosis may be accomplished by one positive dark staining in many epithelial cells (immunoperoxidase with or more imaging modality techniques. Prenatal ultra- hematoxylin counterstain, original magnification ϫ200). sound can identify the tumor when it is sufficiently large. Postnatal computed tomography and/or magnetic acrococcygeal account for 40% of all germ resonance imaging can show the mass and its location. cell tumors and up to 78% of extragonadal germ 1 Identification of fluid, tissue fat, and calcium densities S cell tumors. The incidence of germ cell tumors in within the mass is characteristic of teratoma, but it is not children in the United States is 2.4 cases per 1 million chil- determinate for malignant potential. dren, with a biphasic age distribution. The first peak oc- Treatment is complete surgical resection, including ex- curs at 2 years of age and a second peak at 15 to 20 years 2 cision of the . In the absence of , the cure of age. There are 3 distinct clinical presentations of germ rate is 95%.1,2 Presence of malignancy necessitates addition cell tumors: (1) tumors of the adolescent testis and ovary; of chemotherapy with platinum-containing regimens, and (2) extragonadal germ cell tumors of older children; and thisisassociatedwithaninferiorprognosis.Levelsof␣-fetoprotein (3) tumors of and young children. The origin of ex- may be used to monitor for recurrence and metastases. It is tragonadal germ cell tumors is presumed to be either ab- necessary to differentiate high serum ␣-fetoprotein levels errantly migrated germ cells, or alternatively, totipoten- fromthenormalinfancy-relatedelevation,5 spuriousincrease tial embryonic cells. The most common locations for secondary to chemotherapy-induced tumor lysis,6 hepatic extragonadal germ cell tumors are sacrococcygeal, medi- disorders, cholestasis secondary to anesthesia, and medica- astinal (including the pericardium, heart, and lung), in- tions such as phenytoin or methotrexate.1 tracranial, and retroperitoneal, respectively. Impaired growth and malnutrition are not uniquely The clinical presentation of sacrococcygeal tumors is related to malignancy. Nonetheless, disturbances related classified into 4 types. Type 1 tumors (47%) are predomi- to tumor cell turnover and by-products may contribute to nantly externalized, with limited extension into the pelvic altered nutrient metabolism and energy imbalance in vul- region; type 2 (34%) have similar external components and nerable hosts.7,8 Other than malignancy, there was no other intrapelvic extension; type 3 (9%) have a minimal exter- satisfactory clinical explanation for the poor growth pat- nal component, with significant pelvic and intra-abdominal tern observed in the subject of this report. The perianal pain extension; and type 4 (10%) tumors are internalized pre- 3 and altered bowel patterns were presumed to be second- sacraltumorswithnoexternalevidenceofdisease. Thesingle ary to pressure effects from the tumor. most important histologic distinction to be made with sa- crococcygeal germ cell tumors is whether or not they also Accepted for publication July 3, 2000. contain yolk sac tumor or embryonal carcinoma, which are Corresponding author: Timothy A. Sentongo, Division the malignant components. The incidence of malignancy ofGastroenterology,Hepatology,andNutrition,Children’sMe- is highest in type 4 tumors.4 Benign sacrococcygeal lesions morial Medical Center, 2300 Children’s Plaza, No. 65, Chi- are commonly seen in newborns, whereas malignant tumors cago, IL 60614-3392 (e-mail: TSentongo@childrensmemorial most commonly present in children older than 1 year of age. .org). The histologic features of yolk sac (endodermal sinus) REFERENCES tumors are characterized by several patterns with varying cytology, making histological identification sometimes dif- 1. Castleberry RP, Cushing B, Perlman E, Hawkins EP. Germ cell tumors. In: Pizzo ficult. The majority of yolk sac tumors show more than 1 PA, Poplack DG, eds. Principles and Practice of Pediatric . 3rd ed. Phila- delphia, Pa. Lippincott-Raven Publishers; 1977. histological type, though none are believed to have specific 2. Perlman E. Germ cell tumors. In: Stocker JT, Askin FB, eds. Pathology of Solid prognostic significance. Generally, however, yolk sac tu- Tumors in Children. London, England: Chapman & Hall; 1998. morsarecharacterizedbyprimitivetubularor“microscopic” 3. Altman RP, Randolph JG, Lilly JF. Sacrococcygeal teratoma: American Academy of Pediatrics Surgical section survey - 1973. J Pediatr Surg. 1974;9:389-398. structures lined by somewhat flattened primitive cuboidal 4. Schropp KP, Lobe TE, Rao B, et al. Sacrococcygeal teratoma. J Pediatr Surg. epithelial cells. One of the most common histological vari- 1992;27:1075-1079. 5. Wu JT, Sudar K. Serum AFP levels in normal infants. Pediatr Res. 1981;15:50. antsisthe“papillarytype,”inwhichthecharacteristicSchiller- 6. Vogelzang NJ, Lange PH, Goldman A, et al. Acute changes of alpha-fetoprotein Dural bodies are seen, as in the present case. Periodic acid– and human chorionic gonadotrophin during induction chemotherapy of germ cell Schiff (PAS)–positive hyaline droplets can be frequently rec- tumors. Res. 1982;42:4855-4861. 7. Picton SV. Aspects of altered metabolism in children with cancer. Int J Cancer ognized in the cytoplasm of many of these cells. Immuno- Suppl. 1998;11:62-64. histochemically, these tumors characteristically stain for 8. Van Eys J. Nutrition and cancer. Annu Rev Nutr. 1985;5:435-461.

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