Adenocarcinoma of the Rectum in a 13-year-old Girl With Turner Syndrome Sriram Krishnamurthy, MD,* Nilay Nirupam, MD,* Anju Seth, MD,* Anil K. Agarwal, MCh,w Praveen Kumar, MD,* and Satinder Aneja, MD* Summary: We describe a 13-year-old girl with short stature and delayed puberty who presented with hematochezia and recurrent abdominal pain for 1 year, and progressive weight loss for 6 months. Per rectal examination was suggestive of a rectal mass. Histopathologic evaluation of the proctoscopy-guided biopsy specimen showed rectal adenocarcinoma. Computerized tomo- graphy of the abdomen showed hepatic metastases, which was confirmed by fine-needle aspiration cytology of the liver. She also had perirectal, aortocaval, para-aotic, mesenteric, and gastrohepa- tic ligament lymph node enlargement. GTG-banded chromosomal analysis showed a karyotype of 45, X, confirming Turner syndrome. A brief review of the neoplasms described in literature in association with Turner syndrome, and the possible pathogenetic mechanisms are discussed. Key Words: Turner syndrome, adenocarcinoma rectum, hepatic metastases (J Pediatr Hematol Oncol 2011;33:320–322) T urner syndrome has been anecdotally reported in association with a variety of neoplasias. Although gonadal neoplasms are well known in Turner syndrome, extragonadal neoplasias are rarely described. 1–11 Most of these patients are middle-aged adults in the fourth or fifth decade of life. Very few cases exist in the pediatric literature. 12–14 We report a 13-year-old girl with Turner syndrome who presented with adenocarcinoma of the rectum. This association has not been reported earlier in the literature. The aim of this report is to create awareness among pediatricians regarding the much underreported association of extragonadal neoplasms with Turner syn- drome. CASE REPORT A 13-year-old girl presented with bleeding from the rectum with pain in the abdomen, weakness, and lethargy for 1 year and progressive weight loss for 6 months. The bleeding through the rectum was bright red in color, painless, and seen mostly after stool passage. She had also been complaining of recurrent diffuse, dull, aching pain all over the abdomen for the last 1 year. The patient had lost 3 kg weight during the last 6 months. On probing, a history of poor growth was obtained. Her relatives were concerned about the lack of secondary sexual characteristics in the patient. There was no history of jaundice, edema, or bleeding from any other site. There was no family history of colon cancers or hereditary nonpolyposis colon cancer-associated tumors. On examination, the patient was lean, thin, and pale. Anthropometrical evaluation showed proportionate short stature; height 118cm (<3rd centile), weight 28kg. Sexual maturity rating was stage 1. There was no dysmorphism. The liver was palpable, 7 cm below the costal margin in the mid-clavicular line with a span of 15 cm. It was nontender and smooth with sharp margins. On per rectal examination, a polypoid mass was felt in the rectum, 5 cm from the anal verge, involving 90% of the circumference of the rectum. The mass was mobile; the superior margin could be reached; however, the mucosa was ulcerated in the center. At admission, hemoglobin was 8.0 g/dL; total leukocyte count was 11  10 9 /L; differential leukocyte count was as follows: polymorphs 60%, lymphocytes 37%, monocytes 2%, and eosino- phils 2%; and platelet count was 298 10 9 /L. The peripheral smear showed predominantly normocytic normochromic anemia with few microcytes. Chest roentgenogram was normal. Proctoscopy-guided biopsy of the rectal mass was suggestive of adenocarcinoma of the rectum (Fig. 1). Contrast-enhanced compu- terized tomography of the abdomen showed concentric homoge- neously enhancing rectal wall thickening measuring approximately 9 mm. Inferiorly, it was seen predominantly along the right lateral wall of the rectum with perirectal fat stranding and perirectal lymph node enlargement. The contrast-enhanced computerized tomography also showed hepatomegaly (liver span 14.5 cm) with multiple, ill- defined, nonenhancing, hypodense lesions in both lobes of the liver, and multiple celiac axis, aortocaval, para-aotic, mesenteric, and gastrohepatic ligament lymph node enlargement (Figs. 2A–C). Mild free fluid was seen in the peritoneal cavity. There were no renal anomalies. These findings were suggestive of rectal neoplasm with hepatic metastases. Ultrasound-guided fine-needle aspiration cyto- logy of the liver showed clusters of benign hepatocytes along with few clusters of atypical cells with high nuclear:cytoplasmic ratio, FIGURE 1. Histopathologic examination of the proctoscopic specimen (magnification:  40) showing rectal adenocarcinoma. Copyright r 2011 by Lippincott Williams & Wilkins Received for publication January 22, 2010; accepted April 10, 2010. From the *Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children’s Hospital; and wDepart- ment of Gastrointestinal Surgery, GB Pant Hospital, New Delhi, India. Reprints: Sriram Krishnamurthy, MD, Department of Pediatrics, Lady Hardinge Medical College, New Delhi 110001, India (e-mail: drsriramk@yahoo.com). CLINICAL AND LABORATORY OBSERVATIONS 320 | www.jpho-online.com J Pediatr Hematol Oncol  Volume 33, Number 4, May 2011