Biomedical subjects
Publications and source records attributed to Ricardo Drut.
Several types of tissues have been reported to present ectopically in the umbilical cord (UC). Most of these are found in the UC proximal to the fetus. Featuring tissues are developmentally related to the area, thus representing vestigial remnants. In this report we describe the recognition of neurons and nerves within the UC in a stillborn with several malformations, an observation that we did not find in the literature.
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A peculiar cystic and chondrolipomatous malformation affecting the right upper lobe of the lung as presented in a 10-year-old girl with a history of recurrent pneumonia and pneumothorax is reported. The lesion combined bronchial-type cavities with intervening stroma containing adipose tissue, with cartilage nodules of different sizes. The findings do not fit with any already-known malformations of the lung.
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BACKGROUND: Lymphocytic gastritis (LG) is defined by the recognition of >25 intraepithelial lymphocytes (IEL) per 100 surface epithelial cells. Approximately 50% of children with celiac disease (CD) present LG, which mainly involves the gastric antrum and disappears after a gluten-free diet. This intraepithelial population of lymphocytes has not been immunophenotypically characterized for this age group. MATERIAL/METHODS: We immunohistochemically analyzed 5 formalin-fixed, paraffin embedded biopsies of LG in children with untreated celiac disease using a panel of antibodies. All patients were diagnosed on the bases of clinical, laboratory and histopathological data. RESULTS: All showed similar results. IEL proved to be CD45RO, CD3, CD7, CD8, and Tia-1 positive, while CD4, CD20, CD79a, CD56, CD57, granzyme B, perforin, TCR gamma-delta, TCR beta (V-19), CD95 (FAS), CD95-L (FAS-L) and HLA II were negative. Many IEL were in apoptosis. CD45RO, CD3 and CD7 presented as membranous staining, while Tia-1 resulted in intracytoplasmic granular brown dots. In 3 cases there were rare lymphocytes with granzyme B-positive granules localized to the lamina propria. None presented Helicobacter pylori -like organisms at the luminal surface. CONCLUSIONS: LG associated with CD in children contains a peculiar CD8+ intraepithelial T-lymphocyte population which immunohistochemically lacks perforin and granzyme B, undergoes apoptosis, and is not associated with substantial damage to the epithelial cells. Our results fit with those reported in adults except for the negative results for granzyme B. The findings appear disparate from the ones described in the duodeno-jejunal mucosa in untreated celiac disease.
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The authors retrospectively reviewed their experience with 14 cases of fetal rhabdomyomatous nephroblastoma (15.6% of all renal tumors seen in the 1984-1998 period), analyzing the diagnostic and treatment approach as well outcome. Mean age at presentation was 27 months; 10 (71%) patients were younger than 36 months (5 of these were less than 12 months) at diagnosis. Three patients had bilateral tumors. One case was extrarenal. Nine patients received preoperative chemotherapy after fine-needle aspiration biopsy. The response was null in five children and mild in three; in the remaining one the tumor increased in size. The only patient showing greater than 50% tumor shrinkage was the one treated with radiotherapy. Postoperative treatment according to staging followed the SIOP protocol. In the follow-up (mean 59.5 months) of 12 patients, 6 were in stages 1-2: 4 are alive and free of disease and 2 died (one due to intractable local recurrence and the other in complete clinical remission). All six patients presenting in advanced stages died (four due to disease progression and two due to complications while in complete clinical remission). Patients with fetal rhabdomyomatous nephroblastoma presenting with distant metastatic disease and high stage have unfavorable outcomes, confirming data from the literature indicating that chemotherapy is not as effective as in other variants of nephroblastoma. New protocols are needed to overcome this situation, for which surgery appears the only truly effective option.
The branchio-oculo-facial (BOF) syndrome is a rare autosomal dominant disorder with a peculiar phenotype related to a combination of craniofacial abnormalities. Rare examples presenting with dermal thymic tissue have been described. We are reporting 2 children, 15 and 4 months old, respectively, with BOF syndrome in whom surgical repair/excision of skin cervical lesions showed thymic tissue. In the first patient the thymic tissue was exposed to the surface, without epithelial coverage and contained areas suggestive of all stages of thymus formation. A dermohypodermal nodule of fully developed thymic tissue superficially covered by nonkeratinizing squamous epithelium was found in the second patient. Since pharyngeal pouches are not exposed to the surface during normal embryogenesis and the thymus originates from the third pharyngeal pouch, both examples seem to indicate that in BOF syndrome there is a more complex malformation than simply ectopic thymus tissue. Thymic tissue at the skin appears to be unique for BOF syndrome and in a given case may provide the clue for the accurate diagnosis of the malformation complex.
The authors report their experience with 70 pediatric patients with spinal cord compression (SCC) due to malignancies identified among 898 patients with solid tumors. An extradural tumor was the most frequent cause of SCC (71%); 54% of these were soft tissue sarcomas and neuroblastoma. Most intradural tumors (70%) were outside the spinal cord, 9/12 being metastatic medulloblastomas. The SCC localized mainly to the dorsal and lumbosacral regions (42% each). Pain was the most common symptom (94%). MRI proved diagnostic in all cases in which it was used, while myelography was diagnostic in 85% of 26 patients. CT scan demonstrated the lesion in 83% of the patients. Laminectomy was provided for patients with paraplegia of less than 96 h evolution; isolated recurrence of the main tumor; a primary spinal cord tumor; progression of neurologic symptoms after chemotherapy/radiotherapy; chemotherapy and radiotherapy-resistant tumor (when known); resection of a paraspinal tumor. Surgery was avoided when prognosis of primary disease was poor or risks exceeded possible benefits. Twelve/twenty-one (57%) patients with paraplegia were able to walk after laminectomy only, while 14% (2/14) improved after chemotherapy and radiotherapy. Survival rates were 38% for the former and 36% for the latter. Overall survival was related to the original malignancy. All patients (12) admitted without paraplegia and submitted to laminectomy were able to walk, and of these, 6 presented a primary spinal cord tumor. The remaining had paraspinal tumors that extended to the spinal canal. Almost 87% (20/23) of the patients without paraplegia who submitted to medical treatment were able to walk, while only one progressed to paraplegia. Patients with SCC may entertain radio- and chemotherapy when harboring tumors responding to such therapies and present no evidence of neurologic damage progression. The latter manifestation is a strong indication for laminectomy without delay.
Testicular microlithiasis (TM) is being recognized with increasing frequency because of the extensive use of ultrasound. TM has been linked to several pathological conditions of the testis, mainly with an increased risk for developing germ cell tumors. The pathogenesis of the microcalcospherites is unknown. We report a detailed morphologic and immunohistochemical analysis of 11 patients (age: 3 to 15 years) with TM. The microliths were related neither to the age of the children nor to the developmental stage of the testis. The microcalcospherites were PAS positive or collagen IV positive or surrounded by a collagen IV-positive band, extratubular structures consistently associated with double-layered annular tubules. Immature, smaller Sertoli cells commonly lined the inner layer of the annular tubules. Some microcalcospherites showed an interposed thin band of connective tissue cells between the concretion and the tubular basement membrane. The annular tubules seemed to result from progressive wrapping of the growing tubules around the concretions. Our findings favor the interpretation that the microliths are located outside the tubules and have been present there since very early stages of testicular development. The association of the calcospherites with Sertoli cells and annular tubules formation, like that of gonadal stromal tumor with annular tubules of the ovary and large cell-calcifying Sertoli cell tumor of the testis, favors the hypothesis that microliths may result from multifocal Sertoli cell dysfunction. Since both tumors are related to the Peutz-Jeghers syndrome, it is proposed that TM may result from the same genetic abnormalities. It is unclear how this may be related to the development of germ cell tumors. However, the presence of calcospherites in gonadoblastoma may indicate a combined Sertoli cell and germ cell derangement in the genesis of TM.
We report on a girl with maxillary hypoplasia, prominent ears, dry sparse hair, palmar and plantar keratoderma, dystrophic nails, patchy pigmented skin lesions in hands and feet and bilateral Wilms tumor. She was born with bilateral ankyloblepharon. The mother and maternal grandmother presented similar ectodermal defects. Skin biopsies of the patient and her mother proved to contain cells overexpressing p63 by immunohistochemistry. Karyotypes of the patient and her mother, and FISH studies on lymphocytes and tumor cells of the girl demonstrated a mosaic 11p15.5 deletion. These findings suggest a relationship between familial ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome (Hay-Wells syndrome) and familial reticulate pigmentation of the skin. In addition the development of Wilms tumor and 11p15.5 region involvement expand the genetic relationship between these conditions and the enlarging group of genetic entities related to nephroblastoma.
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We report on 2 patients with congenital malignant rhabdoid tumor, one located to the kidney and the other to the soft parts of the cheek. Initial diagnosis was performed through percutaneous fine-needle aspiration biopsies, which yielded cytologic smears exhibiting highly characteristic rhabdoid cells, i.e., cells with a large, vesicular nucleus with a prominent nucleolus and cytoplasm exhibiting a large, dense, paranuclear inclusion. Interphase FISH demonstrated only one signal (heterozygous deletion) for the BCR gene in both cases, supporting the diagnosis. Surgical pathology and immunohistochemistry of both cases confirmed the diagnosis. Both patients died within the following 6 mo to 1 yr.
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This report describes an unusual example of congenital mesoblastic nephroma cellular variant that presented in a 1-week-old neonate as a multicystic tumor of the kidney. Extensive pseudocystic cavitation resulted from progressive accumulation of ground substance in a loosely myxoid tissue composed of stellate- and spindle-shaped cells that compressed and infiltrated renal tissue. The cells of the tumor were positive for vimentin and smooth muscle actin. The patient is alive and well 16 years after surgery. Differential diagnosis from segmental cystic dysplasia, cystic intralobar nephrogenic rest, cystic nephroma, cystic partially differentiated nephroblastoma, cystic nephroblastoma, and cystic clear cell sarcoma of the kidney, all of which may present at this age, is discussed.
A peculiar 6 x 5 x 3 cm, multilobed, septated, cystic tumor presented in the tail of the pancreas in a 5-month-old infant with left ear pit, bilateral cleft palate, brachydactyly type B, and familial ear pits. This combination was not found previously reported. The cysts were lined by attenuated epithelium and PAS-positive, mucus-containing cells. These were keratin 8-, 18-, and 19-positive and CA 19.9-negative. Ductuloinsular complexes were present in the adjacent pancreatic tissue. Pancreatic cystic dysplasia (dysgenesis) may associate with several malformation syndromes. A similar lesion may present isolated as a tumor in the first year of life and has been reported under a variety of names (hamartoma, cystadenoma, and cyst). The lesion does not fit with the criteria of cystadenomas as seen in adults.
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