Juvenile papillomatosis of the breast in a male infant with Noonan syndrome, café au lait spots, and family history of breast carcinoma

Juvenile papillomatosis (JP) of the breast is a rare condition, usually affecting women under 30 years of age. Although this is considered a benign lesion, follow-up is recommended for the patient and family since there is an association with a family history of breast carcinoma and increased risk of development of breast carcinoma. We report an infant with JP, Noonan syndrome (NS), café au lait spots, and family history of breast carcinoma. Seven previously reported cases of JP in males exist, two occurring in infants. The association between JP and NS has not been previously reported.     

Myofibroblastoma of breast in a male infant

Breast masses are very rare in infants and premature telarche due to excessive endogen or exogenous estrogens is the most common presentation during infancy. Myofibroblastoma is a stromal tumor of the breast, occurring especially in elder males. This breast mass has a close relationship between androgen receptors and has not been reported in infants previously. A 10-month old male baby with a left breast mass, which is diagnosed as myofibroblastoma, is discussed to evaluate the clinical features and treatment modalities of breast myofibroblastomas in children.     

Invasive ductal carcinoma of the breast in a 14-year-old girl

Breast cancer is rare in children and adolescents. In particular, there are very few cases of invasive ductal carcinoma in childhood. We report a case of invasive ductal carcinoma of the breast in a 14-year-old girl presenting as a palpable mass. While the tumor demonstrated a relatively benign appearance on ultrasound, magnetic resonance imaging revealed typical malignant features. Several polymorphisms of single nucleotide variation were observed on gene analysis. The patient underwent breast conserving surgery and received subsequent concurrent chemo-radiation therapy. An awareness that ductal carcinoma of the breast rarely occurs in children is important to detect early stage breast cancer.     

幼年性息肉和幼年性息肉病回顾性病理分析

目的 了解我国幼年性息肉病（JPS）不典型增生改变的存在，比较单发结、直肠幼年性息肉（JP）和JPS的不同病理特点。方法 32例单发结、直肠JP标本和5例JPS（共35枚息肉）标本经常规切片，HE染色后进行病理检查，观察不典型增生改变情况并进行分级。结果 32枚单发结、直肠JP未见不典型增生改变。5例JPS的35枚息肉中4例24枚息肉（68.6%)局部有不典型增生改变，其中轻度16枚，中工7枚，重度1枚。结论 JPS和单发结、直肠JP病理改变不完全相同。前才由于息肉是多发的，个别息肉局部可出现不典型增生改变，因而多认为是癌前病变，后者多为良性病变。     

Internal jugular phlebectasia: usefulness of color Doppler ultrasonography in the diagnosis

Jugular phlebectasia (JP) is an entity that has been increasingly recognized in recent years. It is a rare entity. This paper reports three new cases presenting with swelling on the right side of the neck, and reviews all cases of internal JP published in English literature up to 2001. This article also discusses the usefulness of color Doppler ultrasonography for the diagnosis of internal jugular venous ectasia.     

Sonography of pediatric male breast masses: gynecomastia and beyond

Background: Palpable breast masses are rare in the pediatric male population. Prior reports have described the ultrasound findings of the normal pediatric breast, masses seen primarily in female pediatric patients, and masses seen in adult males. Objective: To describe and illustrate the sonographic findings in gynecomastia and other causes of breast masses in a group of pediatric males. Materials and methods: We reviewed the ultrasound database of a large tertiary-care childrens hospital for male pediatric patients presenting with breast masses from 1994 to 2000. The findings were correlated with additional imaging and pathology results. Results: Twenty-five pediatric patients ranging in age from 1 month to 18 years were referred for breast ultrasound. Eighteen patients (72%) had gynecomastia. Two patients each (8%) had galactocele(s) or had postoperative hematoma. One patient had ductal ectasia, which resolved. One patient had periductal hemangioma. One patient with neurofibromatosis and a solid mass was lost to follow-up. Conclusion: Palpable breast masses are rare in the male pediatric patient and sonography is the primary imaging modality. The overwhelming majority of these cases are adolescent boys presenting with gynecomastia. Other diagnoses such as galactocele(s), hemangiomas, and ductal ectasia should be considered when young male patients present with a palpable mass. Malignant breast lesions are rare and are likely to be metastatic or primary tumors of nonbreast tissue origin.     

Isolated extramedullary relapse of acute lymphoblastic leukemia in the breast of an adolescent girl: radiologic findings and discussion

We report a case of isolated extramedullary leukemia relapse in the breast of an adolescent girl. A 13-year-old girl with acute lymphoblastic leukemia in remission, post-chemotherapy and unrelated cord blood transplant, presented with a breast lump. US and mammography demonstrated a large hypervascular heterogeneous mass. Examination of tissue provided by US-guided core biopsy confirmed focal leukemic relapse. US is a commonly used diagnostic tool in children and adolescents with a breast mass, for both characterization and guided biopsy.     

Wilms' tumor metastatic to the mediastinum

We report two children with mediastinal metastasis of Wilms' tumor. One case presented with a right hilar mass and the other with a posterior mediastinal mass. In each instance, no additional radiologic evidence of metastasis was found. Metastasis of Wilms' tumor to the mediastinum is uncommon, usually occurring with radiologic evidence of either additional metastases or direct cephalad growth of the primary tumor.Presented at the Members Miscellany, 23rd Annual Meeting, The Society for Pediatric Radiology, 18–20 April 1980, Salt Lake City, Utah, USA     

De novo phyllodes tumor in an adolescent female after liver transplantation

Cheng F, Qin J‐J, Yu M‐N, Zhang F, Li X‐C, Sun B‐C, Kong L‐B, Wang X‐H. De novo phyllodes tumor in an adolescent female after liver transplantation.
Pediatr Transplantation 2011: 15:E12–E14. © 2009 John Wiley & Sons A/S. Abstract: Phyllodes tumor of the breast is a rare disease constituting 0.3–0.9% of all breast neoplasms. Occurring mainly in females aged 35 to 55 yr, the disease is especially rare among adolescent females. There is no published literature about de novo phyllodes tumor after liver transplantation. Here we describe a case of de novo phyllodes tumors in an adolescent female after liver transplantation from a living donor for Wilson disease.     

EBV‐positive low‐grade marginal zone lymphoma in the breast with massive amyloid deposition arising in a heart transplant patient: A report of an unusual case

According to the 2008 World Health Organization classification, low‐grade lymphomas arising in transplant recipients are not considered as specific types of PTLD. Most such cases are not associated with EBV infections, although rare reports of post‐transplant marginal zone lymphoma have been described. We describe the case of an 18‐yr‐old female with history of heart transplant who developed a breast mass, but was otherwise completely asymptomatic. Surgical excision of the mass and histopathologic examination showed a low‐grade B‐cell lymphoma most consistent with marginal zone lymphoma with massive amyloid deposition; furthermore, numerous tumor cells were positive for EBV by in situ hybridization for EBV‐encoded RNA. The patient was treated with reduction in immunosuppression, and no additional lesions developed. This case describes an atypical presentation of post‐transplant low‐grade B‐cell lymphoma, unusual in its location, histopathologic features, and association with EBV, thereby adding to the rare previous accounts of such an entity, suggesting the need to include post‐transplant marginal zone lymphomas in the current classification of PTLD, and helping in determining the optimal treatment modalities for such tumors.     

Rhabdoid tumor of the kidney: A report of two cases with respective tumor markers and a specific chromosomal abnormality,del(11p13)

Malignant rhabdoid tumor is a rare, aggressive, invariably lethal tumor that is resistant to multimodal treatment. In this report, two patients with malignant rhabdoid tumor of the kidney (RTK) are described. The first patient is the first case of RTK with hyperreninemia, and the second case is also the first case with a specific chromosomal abnormality, del 11p13. The first patient presented with hematuria and a mass in the left kidney. Plasma renin, angiotensin, and aldosterone levels were elevated and paralleled the tumor progression. The karyotype of the tumor cells was normal (46, XX). In the second patient, who presented with a mass in the right kidney, the concentration of plasma tissue polypeptide antigen was elevated and paralleled the tumor progression. The karyotype of the tumor cells was 46, XX, del(11)(pter-p13::p12-qter). RTK with a cytogenetic abnormality of del(11p13), which is usually found in aniridia-Wilms' tumor syndrome, has not been known. Both patients died of metastatic disease within 7 months of diagnosis in spite of the multi-modal therapy. The clinicopathology of RTK and the differences between Wilms' tumor and RTK raise compelling questions which should be the subject of future studies. © 1996 Wiley-Liss, Inc.     

Double pancreatic tumors in an adolescent: Imaging features

Insulinoma is generally identified as a single tumor and seldom occurs in children or adolescents. A 14‐year‐old girl with difficulty in waking was found to have hyperinsulinemic hypoglycemia. On abdominal ultrasonography two hypoechoic masses (8 and 12 mm in diameter) were seen in the pancreatic body: the larger mass was hypervascular, whereas the smaller one was hypovascular. Contrast‐enhanced computed tomography showed enhancement of the larger mass, but did not delineate the smaller mass. On fat‐suppressed T1‐weighted magnetic resonance imaging, the larger mass was hypointense, but the smaller mass was hyperintense. Pathologically, the larger tumor was normal density, insulin positive, and rich in vascularity, whereas the smaller tumor was high density, insulin negative, and poor in vascularity. The present case suggests that difficulty waking should be considered as a potential etiology in insulinoma, and multiple suspected pancreatic insulinomas should be evaluated using a combination of imaging modalities to characterize each tumor.     

Surgical breast lesions in adolescent females

Purpose  Breast diseases in teenage girls are fortunately uncommon, with most presenting masses being benign. The aim of this study was to evaluate the histopathological results of breast lesions excised from adolescent females less than 19 years of age. Methods  The authors reviewed the medical and pathology records at the University Hospital of Vienna, Department of Obstetrics and Gynaecology, between 1993 and 2006, retrospectively. All data included the patient age, age of menarche, pregnancy, hormonal contraception, family history of breast cancer, size of the breast lesion and its histopathology following surgery. Results  Thirty-seven female patients with an average age of 16 years (ranging 12–18 years) were operated on for breast tumor and/or discharge. All tumors were palpable. Six patients had bilateral breast masses; thus, 43 breast lesions were evaluated following surgical excision. Surprisingly, breast cancer was found in two cases. Both patients were diagnosed with a noninvasive ductal carcinoma in situ (DCIS) within a fibroadenoma at the age of 16. These are the first reported cases of DCIS found in this young age group. As breast neoplasm was found in two cases, a malignancy rate of 4.7% was observed. The most common histologies were fibroadenoma (n = 27) and fibrocystic disease (n = 4). Conclusion  The incidence of primary breast cancer in adolescent women is low. However, our experience shows the need for compulsory excision of all breast masses and highlighting the importance of histopathological evaluation of all breast tumors including adolescents.     

Choroby i zaburzenia gruczołów piersiowych u dzieci

Disorders of the breast in children and adolescents, especially breast enlargement, concern both parents and pediatricians. Serious breast diseases requiring immediate diagnostic and therapeutic intervention are relatively rare in girls and boys. Each case with alarming symptoms, such as a tumor or premature breast enlargement, needs exclusion of organic changes. The aim of this study is to review the most common breast pathologies in children and adolescents. This article can help pediatricians and general practitioners carry out proper diagnostics and make the decision whether to refer the patient to the appropriate specialist: gynecologist, surgeon, endocrinologist or oncologist.     

Fibroadenoma of the breast in an 11-year-old girl.

Fibroadenoma is the main cause of unilateral breast mass in teenagers and adolescents. 4% of these are a special form described as giant or juvenile fibroadenoma. For primary diagnosis, ultrasound is the method of choice. The MRI allows exact evaluation of size and location. The fibroadenoma must be distinguished from the phylloid tumour, which can be malignant. The latter occurs in patients of all ages, but peaks between the ages 40 and 50 years. Only 2% of all primary malignant breast lesions are found in women aged under 25. Metastases of other primary tumours must be excluded, especially with a history of prior malignancies. When planning the surgical excision, the final cosmetic result is important. Although the main reason of an asymmetrical breast enlargement of young girls is a benign mass, an early surgical excision is efficient with regard to the best possible cosmetic outcome.     

Melanotic neuroectodermal tumor of infancy: report of a case with myogenic differentiation.

An 8-month-old boy presented with a 6-week history of a skull mass of the anterior fontanelle. The mass was excised, and the histopathologic features were diagnostic for melanotic neuroectodermal tumor of infancy. The tumor showed focal myogenin positivity, which has not been previously reported in this tumor. The patient has no evidence of recurrent tumor 10 months after the excision. No adjuvant therapy was given. In addition, we stained a case of melanotic neuroectodermal tumor of infancy obtained from Columbus Children's Hospital; focal myogenin positivity was present.     

Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3)

We describe a male with a large abdominal mass, most likely originating from the liver, with capsule rupture and tumor dissemination into the abdominal cavity. Adherence of the tumor to the diaphragm and lower right colon also were noted. A comprehensive evaluation of the mass revealed no tumor‐defining histopathologic, immunocytochemical, ultrastructural, cytogenetic, or translocation features. The malignant tumor was found to have a novel translocation (X;19)(q13;13.3), which has not been reported in small round cell tumors of childhood or adults. The final diagnosis rendered was an undifferentiated small round cell tumor of uncertain cell of origin. Pediatr Blood Cancer 2010;54:1041–1044 © 2010 Wiley‐Liss, Inc.     

Prostatic non-Hodgkin's lymphoma causing acute urinary retention in childhood

An 8-year-old boy presented with dysuria and acute retention of urine. Rectal examination showed a hard mass arising from the prostate. CT scan of the pelvis confirmed the presence of a large prostatic tumor causing bladder outflow obstruction. A provisional diagnosis of pelvic sarcoma was initially made. Biopsy of the tumor mass however, revealed non-Hodgkin's lymphoma of T-cell type. The tumor showed very good response to chemotherapy and the urinary obstruction significantly improved with a week after starting therapy. © 1995 Wiley-Liss, Inc.     

Severe lactic acidosis in a 14-year-old female with metastatic undifferentiated carcinoma of unknown primary

A 14-year-old girl was found to have a large, non-tender breast mass with anemia and thrombocytopenia. The diagnosis of an undifferentiated carcinoma of unknown primary was made after open breast biopsy of the mass with negative immunohistochemical studies for breast malignancies. Further evaluation showed extensive metastatic disease affecting the bone marrow, ribs, liver, and brain with magnetic resonance imaging evidence of carcinomatous meningitis. Despite 2 months of chemotherapy and intensive supportive care, the patient died of severe lactic acidosis and disseminated intravascular coagulation after exaggerated menstrual bleeding. The association of severe lactic acidosis and undifferentiated carcinoma of unknown primary in an adolescent has not been previously described.     

Surgical management of large breast tumors in the adolescent

The management of adolescent females with giant cystosarcoma phylloides remains controversial. Since in this age group the overwhelming majority of these neoplasms are benign, aesthetic outcome is as important as adequate tumor resection. Traditional, treatment has been wide local excision, which may lead to substantial breast deformity. In addition, inadequate planning with improper incision placement may result in visible scarring and impair immediate or subsequent breast reconstruction. The treatment of four adolescent females with large breast masses using breast-sparing techniques is discussed.