Pancreatic hamartoma in a premature Trisomy 18 female.

Pancreatic hamartomas are extremely rare tumors in adults and even more so in children. They are lesions characterized by acinar, islet and ductal components found in varying proportions and in a disorganized pattern. We report a case of a premature female with trisomy 18 diagnosed by amniocentesis. The newborn was delivered by cesarean section at thirty-three weeks of gestation and expired within one hour of birth. Postmortem examination exhibited numerous features associated with Trisomy 18 including lanugo on the torso and arms, micrognathia, microstomia, left low-set ear with small flat pinna, closed ear canal, clenched fists with overlapping fingers, rocker-bottom feet, narrow pelvis, large right diaphragmatic hernia and left pulmonary hypoplasia. Microscopic examination of the pancreas revealed an area, 1.2 cm in greatest dimension, with branching ducts and cysts lined by cuboidal epithelium intermingled within primitive mesenchymal proliferation and exocrine glands. The cysts measured up to 0.2 cm and were surrounded by a collarette of proliferating spindle cells as highlighted by Masson's trichrome stain. A diagnosis of pancreatic hamartoma was rendered. A total of thirty-four cases of pancreatic hamartomas have been reported in the literature including twenty-seven in adults, five in children and two in newborns. Our case may be the third pancreatic hamartoma reported in association with Trisomy 18. We recommend that careful examination of the pancreas be performed in individuals with Trisomy 18 to further characterize this lesion as one of the possible abnormal findings associated with this syndrome.

Pancreatic hamartoma in a premature Trisomy 18 female

Pancreatic hamartomas are extremely rare tumors in adults and even more so in children. They are lesions characterized by acinar, islet and ductal components found in varying proportions and in a disorganized pattern. We report a case of a premature female with trisomy 18 diagnosed by amniocentesis. The newborn was delivered by cesarean section at thirty-three weeks of gestation and expired within one hour of birth. Postmortem examination exhibited numerous features associated with Trisomy 18 including lanugo on the torso and arms, micrognathia, microstomia, left low-set ear with small flat pinna, closed ear canal, clenched fists with overlapping fingers, rocker-bottom feet, narrow pelvis, large right diaphragmatic hernia and left pulmonary hypoplasia. Microscopic examination of the pancreas revealed an area, 1.2 cm in greatest dimension, with branching ducts and cysts lined by cuboidal epithelium intermingled within primitive mesenchymal proliferation and exocrine glands. The cysts measured up to 0.2 cm and were surrounded by a collarette of proliferating spindle cells as highlighted by Masson's trichrome stain. A diagnosis of pancreatic hamartoma was rendered. A total of thirty-four cases of pancreatic hamartomas have been reported in the literature including twenty-seven in adults, five in children and two in newborns. Our case may be the third pancreatic hamartoma reported in association with Trisomy 18. We recommend that careful examination of the pancreas be performed in individuals with Trisomy 18 to further characterize this lesion as one of the possible abnormal findings associated with this syndrome.

Strongyloides Colitis as a Harmful Mimicker of Inflammatory Bowel Disease.

Autoinfection caused by Strongyloides stercoralis frequently becomes a life-long disease unless it is effectively treated. There is overlapping histomorphology between Strongyloides colitis and inflammatory bowel disease; a low index of suspicion can lead to misdiagnosis and fatal consequences. We present a case of Strongyloides colitis mimicking the clinical and pathologic features of inflammatory bowel disease. A 64-year-old female presented to the emergency department with a four-day history of abdominal pain, diarrhea, and hematochezia. Colonoscopy revealed diffuse inflammation suggestive of inflammatory bowel disease, which led to initiation of 5-aminosalicylic acid and intravenous methylprednisolone. Biopsies of the colon revealed increased lymphoplasmacytic infiltrate of the lamina propria with eosinophilic microabscesses and presence of larvae, consistent with Strongyloides stercoralis. Immunosuppressive medication was halted. The patient ultimately died a few days later. This case emphasizes the importance of identifying the overlapping clinical and pathologic features of Strongyloides colitis and inflammatory bowel disease. A high index of suspicion and recognition of particular histological findings, including eosinophilic microabscesses, aid in the correct diagnosis. Definitive diagnosis is crucial as each disease carries distinct therapeutic implications and outcome.

Neonatal kaposiform hemangioendothelioma of the spleen associated with Kasabach-Merritt phenomenon.

Kaposiform hemangioendothelioma is a rare locally aggressive vascular tumor that usually manifests during early childhood. Typically the lesion presents with skin, soft tissue and bone involvement and is characterized histologically by ill-defined nodularity and the presence of spindle cells with resemblance to Kaposi's sarcoma. We report a rare neonatal case of a splenic kaposiform hemangioendothelioma associated with Kasabach-Merritt phenomenon that was diagnosed with radiographic imaging. Because of the rapid onset of thrombocytopenia and anemia, the patient required urgent splenectomy with subsequent resolution of the blood dyscrasias.

Metastatic prostatic adenocarcinoma diagnosed in a bronchoalveolar lavage specimen: An unusual presentation of a common tumor.

Metastatic prostatic adenocarcinoma presenting as a primary lung disease is rare. We present a 52-year-old male with a 3-month history of cough, shortness of breath, and weight loss with clinical and radiological findings suggestive of a primary lung disease: Bilateral interstitial and alveolar opacities with blunting of the costophrenic angles, multiple diffuse foci of consolidations and nodules, predominantly subpleural and located in the lower lobes, and diffuse interlobular septal thickening and peribronchial thickening. The patient underwent bronchoscopy and bronchoalveolar lavage (BAL) was obtained. Cytospin smears were diagnostic for a low-grade adenocarcinoma. Clinically, the patient had elevated serum prostate-specific antigen (PSA) levels greater than 5,000 ng/mL. Because of this, immunocytochemistry for PSA was performed which was positive, confirming the diagnosis of metastatic prostatic adenocarcinoma. This unusual case of metastatic adenocarcinoma of the prostate first diagnosed by BAL highlights the significance of available clinical information and the use of immunocytochemistry for proper diagnosis.

Intraductal papillary neoplasm of the bile ducts: A case report and literature review.

Intraductal papillary neoplasm of the bile duct (IPNB) is a rare bile duct neoplasm mostly found in far eastern nations where hepatolithiasis and clonorchiasis infections are endemic. In western countries, it is very rare and the etiology is unknown. In this article, we report the first IPNB patient we encountered in our clinic and a literature review. The patient is a 38-year-old female with a history of choledocholithiasis who presented with obstructive jaundice. She was found to have a papillary mass at the junction of the right hepatic duct and common hepatic duct with six masses in the liver parenchyma. The immunophenotypic and histologic features of the tumor are consistent with IPNB, gastric subtype. The patient had a partial hepatectomy and has been receiving palliative chemotherapy. In a search of PubMed database, we collected 354 IPNB patients reported in 22 articles. In these patients, 52.8% were from Japan and 27.7% were from western countries including the United States (11.0%). The age of the patients ranged from 35 to 80 years old with an average of 64.6. Male/female ratio was 1.5. Macroscopically, 57.5% of the tumors were in the left lobe and 29.5% were in the right lobe. The average size of the tumor were 4.2 cm at the time of diagnosis. Histologically, pancreato-biliary subtype accounted for 41.8%, intestinal 28.0%, gastric 13.5% and oncocytic 16%. An invasive component is most often present in the pancreato-biliary and gastric subtypes. Despite recent advanced technologies, diagnosis of IPNB is still challenging, especially in western countries due to its rarity. Defined clinico-pathologic features are in demand for the accurate diagnosis and proper treatment.

Two Rare Cases of Hepatocellular Carcinoma after Kasai Procedure for Biliary Atresia: A Recommendation for Close Follow-Up.

The instigation of the Kasai procedure in infants who are born with biliary atresia has led to increased survival in this population for over half a century. The many complications that arise as a result of biliary atresia led to an early death for most patients. However, the Kasai procedure is not without its own impediments. Among them is the development of hepatocellular carcinoma. We present two cases of hepatocellular carcinoma, after Kasai procedure, from two different age groups, as a recommendation that these patients should be even more closely monitored. Furthermore, if they are in need of transplant, we recommend that the explanted livers be carefully examined, as the tumor may not have been diagnosed preoperatively.

Unexpected Malignant Diagnosis in Colonic Biopsies: Malignant Transformation of Ovarian Mature Teratomas-Two Case Reports and Review of the Literature.

Colorectal adenocarcinoma is the second cause of cancer-related deaths in the United States. The occurrence of squamous cell carcinoma in the colorectum is extremely unusual. Malignant transformation from mature cystic teratoma of the ovary is a rare event. The most common transformation is squamous cell carcinoma, followed by adenocarcinoma. It occurs more often in elderly patients, who usually present with advance disease. We report two unusual cases of postmenopausal women diagnosed with squamous cell carcinoma in colon biopsies. After surgical resections, the carcinoma was proven to be the result of malignant transformation of ovarian mature cystic teratomas. Since squamous cell carcinoma of the colorectum is extremely rare, the presence of squamous cell carcinoma in a colonic biopsy in a female patient should alert the clinicians to other possible primary sites, as seen in these cases.

Low biopsy volume in ureteroscopy does not affect tumor biopsy grading in upper tract urothelial carcinoma.

OBJECTIVES: Urothelial carcinomas (UC) from the upper urinary tract represent 7%-10% of all kidney malignancies. With current ureteroscopic (URS) techniques, small tissue samples are usually the only available histopathologic material for evaluation, representing a diagnostic challenge. Precision in diagnosis is essential for treatment decision making. There has been much debate as to whether tumor grade and stage found on biopsy agree with final pathology. The purpose of this study is to evaluate whether URS biopsy volume affects tumor grading and staging agreement between biopsy and nephroureterectomy (NU) specimens. MATERIALS AND METHODS: We reviewed 137 URS biopsies in 81 patients with suspected upper urinary tract UC performed from April 2002 to April 2011. Of those, 54 patients had both the URS biopsy and NU performed at our institution and were available for review. Biopsy dimensions were recorded to calculate estimated ellipsoid volume, and 2 urological pathologists independently evaluated histologic grade (ISUP/WHO 2004), (based on pleomorphism and mitosis) and depth of invasion. Statistical analysis was performed to evaluate URS biopsy and NU specimen grade and stage concordance. In addition, univariable and multivariable analyses was performed to assess the effect of biopsy volume on agreement. RESULTS: Of the 54 patients studied, low grade and high grade UC biopsy were found in 8 (15%) and 46 (85%), URS biopsies, respectively. Regarding biopsy stage, 51 (94%), 1 (2%), and 2 (4%) were stage Ta, T1, T2, respectively. Grade concordance was 92.6%, (95% CI: 82.4%-98.0%). Stage concordance was 43% (95% CI: 28.7%-55.9%). Multivariable analysis showed biopsy volume did not affect tumor assessment of grade (P = 0.81) or stage (P = 0.44). CONCLUSIONS: Histologic grade assigned on the URS biopsy sample accurately predicts histologic grade in the resected specimen (92.6%), even when the biopsy volume is small. Grading in URS biopsies provides sufficient information for clinical decision making that is independent of sample volume.

Rare presentation of BK encephalitis in a child: imaging and pathological findings.

Clinically apparent BK virus infections mostly involve the genitourinary system of immunocompromised patients, particularly those who have undergone renal or bone marrow transplantations. Central nervous system involvement is extremely rare. In this report, we describe the pathologic and MR findings of BK encephalitis in a child. Initial involvement of the brainstem and the cervicomedullary junction was noted that later rapidly progressed to involve other regions of the supratentorial brain parenchyma including the basal ganglia and the thalami as well as the cerebellum.

A child with BK virus infection: inadequacy of current therapeutic strategies.

In this report, we describe the development of BKVN in the native kidneys of a child with a cardiac transplant. Elevated BK viral DNA load by PCR necessitated a prolonged course of treatment with escalating doses of cidofovir. Despite a reduction in plasma BK viral load, the infection evolved into an invasive CNS disease, resulting in rhomboencephalitis. This case highlights the need for awareness of the possibility of developing multiorgan complications from BKV infection. The current treatment options for BKV tissue invasive disease are inadequate and need to be improved.

Comparative immunohistochemical study of multicystic dysplastic kidneys with and without obstruction.

Etiology of multicystic dysplastic kidney (MCDK) remains unknown. Not all cases are associated with obstruction. We compared by immunohistochemistry 17 cases of MCDK (10 cases with and seven without obstruction) to 17 controls and 20 fetal kidneys. TGF-ß was negative in obstructive MCDKs and positive in nonobstructive MCDK. IGF2 was overexpressed in obstructive and underexpressed in nonobstructive MCDKs. PAX2, BCL-2, and ß-catenin were expressed equally in obstructive and nonobstructive dysplasia. TGF-ß and IGF2 work by different mechanisms in obstructive and nonobstructive MCDKs, but there are no differences among PAX 2, BCL-2, and ß-catenin in obstructive versus nonobstructive dysplasia.

Renal glomus tumor in an adolescent: a conservative approach.

The most common renal neoplasms in the second decade of life are renal cell carcinomas and Wilms' tumors. Glomus tumors arising in the kidney are rare. We report an adolescent with a benign renal glomus tumor excised by wedge resection. Nephron-sparing surgery is the therapy of choice for children with benign renal tumors. Glomus tumor should be considered in the differential diagnosis of a renal mass in a young patient.