Norman Walford | University of Illinois at Chicago (original) (raw)
Papers by Norman Walford
Histopathology, May 1, 1989
Histiocytoid breast carcinoma: an apocrine variant of lobular carcinoma Two cases of in siru and ... more Histiocytoid breast carcinoma: an apocrine variant of lobular carcinoma Two cases of in siru and invasive histiocytoid breast carcinoma are described. The invasive components of both tumours showed architectural and cytological similarities lo lobular carcinoma. The in siru components showed areas of classical lobular carcinoma in siru, areas of lobular carcinoma with apocrine features and areas with transitional features. It is concluded that histiocytoid carcinoma represents an apocrine variant of lobular carcinoma. Differentiation of this tumour from chronic sclerosing inflammation may be difficult in both primary and secondary lesions.
Journal of Obstetrics and Gynaecology, 1985
: This case report tells of intrauterine granulation tissue with an IUD in situ for 16 years. The... more : This case report tells of intrauterine granulation tissue with an IUD in situ for 16 years. The 43-year-old patient had had 6 pregnancies, the last 16 years ago. After the last delivery she was fitted with a Lippes Loop IUD. She presented with a 2-week history of heavy intermenstrual bleeding, which had failed to respond to norethisterone. She had no other significant past medical history. General examination was normal. On pelvic examination the uterus was found to be bulky and anterverted, and the threads of the IUD were visible. She was admitted for dilatation and curettage, and the findings were confirmed. The IUD was removed, a uterine sound passed to 9 cm, and the cervix dilated to 9 mm. Normal looking curettings were obtained and sent for histological examination. The patient was fitted with a copper containing IUD. Histological examination of the curettings revealed an inflammatory infiltrate of plasma cells and lymphocytes superimposed on a proliferative endometrium. In addition to this, there were separate strips of simple granulation tissue composed of proliferative capillaries and venules in an edematous, necrotic background, containing lymphocytes, polymorphocellular cells and macrophages. There was no evidence of tuberculosis or actinomycosis on appropriate staining. Abnormal bleeding developing some time after insertion should always be investigated. In this patient no cause was found for the prolonged bleeding other than the granulation tissue. An intrauterine contraceptive devices are believed to work by causing inflammation and are associated with an increased incidence of pelvic inflammatory disease, it comes as a surprise that associated granulation tissue has not been reported previously.
Histopathology, Feb 1, 1992
Immunohistochemical studies on renal biopsies from eight patients with various types of glomerulo... more Immunohistochemical studies on renal biopsies from eight patients with various types of glomerulonephritis showed that the interstitial foam cells belonged to the monocyte-macrophage lineage. There was a strong association between hypercholesterolaemia and the presence of renal interstitial foam cells.
PubMed, Feb 24, 1990
In two pregnant women the diagnosis fetal triploidy was made by transabdominal villous biopsy at ... more In two pregnant women the diagnosis fetal triploidy was made by transabdominal villous biopsy at 20 and 21 weeks. Chromosomal analysis revealed a 69, XXX respectively 69, XXY karyotype. The diagnosis was suspected because of fetal growth retardation and a large vesicular placenta on sonographic examination. One patient had bilateral multilocular ovarian cysts. She had an eclamptic seizure at 22 weeks. In both patients labour was induced by intravenous prostaglandins. One fetus had a small spina bifida, the other fetus had no congenital malformations. Microscopy of both placentas showed a partial mole. A short description is given of the abnormalities associated with triploidy.
Histopathology, Jul 1, 1990
Panlobar nephroblastomatosis: a distinctive form of renal dysplasia associated with Wilms' tumour... more Panlobar nephroblastomatosis: a distinctive form of renal dysplasia associated with Wilms' tumour An increasing variety of dysplastic lesions of metanephric origin ('the nephroblastomatosis complex') have been recognized as precursors of Wilms' tumour. We describe here four cases of a hitherto unrecognized renal dysplasia associated with Wilms' tumour and having a panlobar distribution. It has many features in common with the intralobar form of nephroblastomatosis, but differs in extending through the full thickness of the renal substance from calyx to capsule. These cases are Keywords: nephroblastoma, dysplasia, cystic disease also characterized by an increased proportion of welldifferentiated tissue elements and by the presence, in some cases, of anomalous metanephric differentiation in the pericalyceal tissues or renal capsule. The presence of Wilms' tissue arising deep in the renal substance should alert the pathologist to make a thorough search for associated dysplastic elements in the kidney.
Histopathology, Feb 1, 1991
Wilms' tumour associated with deep cystic nephroma-like changes: three cases of a putative Wilms'... more Wilms' tumour associated with deep cystic nephroma-like changes: three cases of a putative Wilms' tumour precursor We describe three cases of Wilms' tumour accompanied by central pericalyceal multicystic lesions closely resembling those seen in cystic nephroma. In continuity with these lesions or elsewhere in the kidney were areas of dysplastic renal tissue of the type sometimes referred to as intralobar nephroblastomatosis. A close homology of tissue differentiation was observed between the dysplastic lesions and the interstitial components of the cystic lesions. These findings support the hypothesis that, in some cases at least, cystic nephroma has more in common with the group of dysplastic lesions referred to as the nephroblastomatosis complex than with the true renal tumours of childhood.
The British Journal of Radiology, 2004
Castleman's disease of the neck is an uncommon benign lymphoproliferative disease that usually pr... more Castleman's disease of the neck is an uncommon benign lymphoproliferative disease that usually presents as homogeneously enhancing enlarged lymph nodes on contrast-enhanced CT scan. We described the appearance of four confirmed cases of Castleman's disease of the neck on contrast-enhanced CT scan. Three of these presented as a solitary enhancing lymph node and the fourth case presented with multiple bilateral enhancing lymph nodes. A central non-enhancing area was present in two of the three cases that presented as a solitary node. Pathological correlation of one of these cases showed that this was due to a central fibrotic scar. One of the enhancing nodes in the fourth case with multiple and bilateral lympadenopathy also contained a central non-enhancing area. We would like to propose that if a central non-enhancing scar is observed in an enhancing lymph node in the neck on CT scan, Castleman's disease should be considered as a possible diagnosis. Castleman's disease is an uncommon benign lymphoproliferative disorder that is characterized by hypervascular lymphoid hyperplasia [1, 2]. When this condition affects the neck, it usually presents as a solitary neck mass. There are several previous publications on the imaging features of Castleman's disease of the neck and most of these are single-case reports [1-5]. We would like to describe the appearance of four confirmed cases of Castleman's disease of the neck on post-contrast CT scan, and to suggest that a central non-enhancing scar, if present, is a useful diagnostic clue of the disease.
Histopathology, 1990
Epithelioid angiomatosis in the acquired immunodeficiency syndrome: morphology and differential d... more Epithelioid angiomatosis in the acquired immunodeficiency syndrome: morphology and differential diagnosis A rare vascular proliferation found as a skin lesion in patients suffering from the acquired immunodeficiency syndrome and sometimes referred to as epithelioid angiomatosis is believed to be a manifestation of infection by the cat scratch bacillus or a related organism. We describe the histological findings from eight lesions seen in two cases. In all cases the diagnosis could be confirmed by demonstration within the lesions of groups of gram-negative rod-shaped organisms staining positively with the Warthin-Starry stain. This condition needs to be distinguished from a variety of reactive and neoplastic vascular proliferations.
Annals of Saudi Medicine, 1995
The occurrence of histologically diagnosed primary malignant tumors in Saudi and Yemeni patients ... more The occurrence of histologically diagnosed primary malignant tumors in Saudi and Yemeni patients in Gizan Province over the 11 years from 1982 to 1992 was analyzed. During the study period, 1398 malignancies of known primary site were seen in males and 972 in females. In common with other parts of Saudi Arabia, the overall incidence of malignant disease was low by Western standards with lymphoreticular malignancies relatively common and tumors of lung, bowel, breast and the female genital system relatively uncommon. Some malignancies are more common in Gizan Province as compared to elsewhere in Saudi Arabia. Oral cancer was the most common malignancy in females and the most common overall, probably due to widespread use of oral tobacco preparations. Liver cancer was the most common malignancy in males, reflecting the endemic nature of hepatitis B in the area. The incidence of bladder cancer, and particularly of squamous carcinoma of the bladder, was also more, probably due to the high incidence of schistosomiasis in the area. No significant trends in incidence of specific malignancies were noted over the 11-year study period, even though the period has been marked by dramatic and unprecedented changes in lifestyle and public health.
Cutis, 2004
Infantile myofibromatosis is a rare mesenchymal disorder of infancy and childhood characterized b... more Infantile myofibromatosis is a rare mesenchymal disorder of infancy and childhood characterized by the formation of tumors in the soft tissues, muscle, bone, and viscera. Disease limited to the soft tissues, muscle, and bone has a good prognosis, and excision is curative; however, visceral involvement may be fatal. We present a case of infantile myofibromatosis in a 1-year-old boy and review the literature.
Skeletal Radiology, 2005
The imaging features of extensive lipofibromatosis presenting in a 1-day-old female infant are re... more The imaging features of extensive lipofibromatosis presenting in a 1-day-old female infant are reported. This lesion involved her entire right upper limb, extending from the axilla to the palm of the hand. Radiographs showed marked deformity and thinning of all the right upper-limb bones due to pressure effect of soft-tissue enlargement, especially affecting the distal humerus and proximal forearm bones. Magnetic resonance imaging showed a huge soft-tissue mass infiltrating most of the muscles of the entire upper limb, with bony erosion. The mass was largely T1-isointense, moderately T2hyperintense and showed marked enhancement. There were intra-lesional signal changes consistent with fatty elements. A lesion debulking procedure was performed and the histology was that of lipofibromatosis. The limb was found to be non-viable after the procedure and a subsequent aboveelbow amputation was performed. Although the resection margins were not clear, she had no further recurrence over a subsequent 3-year follow-up period.
Pediatric and Developmental Pathology, 2002
The rhabdoid predisposition syndrome (RPS) is characterized by pedigrees in which two or more ind... more The rhabdoid predisposition syndrome (RPS) is characterized by pedigrees in which two or more individuals carry germline mutations of the hSNF5/INI1 tumor suppressor gene. The tumors associated with the syndrome include atypical teratoid/rhabdoid tumor (AT/RT), choroid plexus carcinoma, medulloblastoma, and extrarenal rhabdoid tumor. Rhabdoid tumor of the kidney (RTK) has not been described as part of the RPS. We report a case of a 7-month-old boy with RTK whose sister had a malignant cerebellar tumor followed by a malignant lung and pleural tumor of childhood with typical rhabdoid histology. Molecular genetic analysis of the RTK and tissue from the pleural tumor revealed in both cases identical nonsense mutations of the hSNF5/INI1 gene on chromosome 22q11.2, where thymidine was substituted for cytosine in base 472. The proband had an identical germline mutation. This is the fifth genetically analyzed RPS pedigree and the first to include an RTK.
Pediatric and Developmental Pathology, 2013
Fetal and Pediatric Pathology, 2008
Alveolar capillary dysplasia is a rare cause of irreversible persistent pulmonary hypertension in... more Alveolar capillary dysplasia is a rare cause of irreversible persistent pulmonary hypertension in newborns resulting from failure of formation of peripheral capillary loops with consequent reduction in the blood-gas barrier. The basic defect in morphogenesis is unknown, although it is postulated that there is a structural abnormality of the hemangioblast precursors of the primitive lung mesenchyme in the septal regions of the developing lung leading to abnormal vasculogenesis. Two cases of alveolar capillary dysplasia evaluated immunohistochemically showed uniform CD117 negativity in the septal interstitial cells forming the pulmonary capillaries. A series of 12 control cases showed positive immunoreactivity for CD117 in a subset of septal interstitial cells forming the putative hemangioblast precursor cells. This novel finding is a useful adjunctive diagnostic tool and may support the hypothesis that absence of putative CD117-positive hemangioblast precursor cells is a key structural defect. This defect results in abnormal vasculogenesis and consequent failure of formation of an adequate blood-gas barrier.
Applied Immunohistochemistry & Molecular Morphology, 2007
Biphasic ductal and myoepithelial lesions of the breast are uncommon. A majority of these rare le... more Biphasic ductal and myoepithelial lesions of the breast are uncommon. A majority of these rare lesions behave in a benign fashion. Malignancy is rare, and preferentially involves the epithelial component. Malignancy in both epithelial and myoepithelial components is even rarer. We report such a case, employing the use of a range of cytokeratins and myoepithelial markers to delineate the extent of each component. In addition, we apply the relatively novel technique of multi-immunolabeling combined with Adobe Photoshop imaging to highlight the different components of the neoplasm on the same tissue section. These ancillary tests can provide much needed information about the contribution of epithelial or myoepithelial components to malignant tumors, hence providing the gateway to further study into their histogenesis and natural history.
The American Journal of Surgical Pathology, 2001
True histiocytic lymphoma, as defined by strict criteria, is a very rare neoplasm. We describe th... more True histiocytic lymphoma, as defined by strict criteria, is a very rare neoplasm. We describe three cases occurring as primary tumors in the central nervous system. The patients, two females and one male, ranged in age from 11 to 69 years. The tumors involved the brain in two cases and spinal cord in one, with a size ranging from 7 to 17 mm. Two patients died at 4 months and 8 months, respectively, and one was alive with disease at 5 months. Pathologically, the tumors comprised groups and sheets of noncohesive large cells with pleomorphic vesicular nuclei, distinct nucleoli, and abundant eosinophilic cytoplasm. A dense inflammatory infiltrate consisting of neutrophils, lymphocytes, plasma cells, and histiocytes was present, with multiple foci of necrosis and abscess formation. All three cases demonstrated an identical immunophenotype: positive for CD68 and lysozyme; focally positive for S-100 protein, CD45RB, and CD4; and negative for CD3, CD20, CD21/CD35, CD1a, CD30, ALK1, myeloperoxidase, glial fibrillary acidic protein, and cytokeratin. The proliferative index ranged from 20% to 35%. Ultrastructural examination further confirmed the histiocytic nature of the tumor cells, characterized by irregularly folded or multisegmented nuclei and abundant cytoplasm containing lysosomes; Birbeck granules, interdigitating cell processes, and cell junctions were not found. Although the presence of abundant inflammatory cells could obscure the neoplastic histiocytes, making the distinction from inflammatory conditions difficult, awareness of this unusual histologic feature and the invariable finding of pleomorphic cells in some areas of the lesion permit the correct diagnosis to be made.
Histopathology, May 1, 1989
Histiocytoid breast carcinoma: an apocrine variant of lobular carcinoma Two cases of in siru and ... more Histiocytoid breast carcinoma: an apocrine variant of lobular carcinoma Two cases of in siru and invasive histiocytoid breast carcinoma are described. The invasive components of both tumours showed architectural and cytological similarities lo lobular carcinoma. The in siru components showed areas of classical lobular carcinoma in siru, areas of lobular carcinoma with apocrine features and areas with transitional features. It is concluded that histiocytoid carcinoma represents an apocrine variant of lobular carcinoma. Differentiation of this tumour from chronic sclerosing inflammation may be difficult in both primary and secondary lesions.
Journal of Obstetrics and Gynaecology, 1985
: This case report tells of intrauterine granulation tissue with an IUD in situ for 16 years. The... more : This case report tells of intrauterine granulation tissue with an IUD in situ for 16 years. The 43-year-old patient had had 6 pregnancies, the last 16 years ago. After the last delivery she was fitted with a Lippes Loop IUD. She presented with a 2-week history of heavy intermenstrual bleeding, which had failed to respond to norethisterone. She had no other significant past medical history. General examination was normal. On pelvic examination the uterus was found to be bulky and anterverted, and the threads of the IUD were visible. She was admitted for dilatation and curettage, and the findings were confirmed. The IUD was removed, a uterine sound passed to 9 cm, and the cervix dilated to 9 mm. Normal looking curettings were obtained and sent for histological examination. The patient was fitted with a copper containing IUD. Histological examination of the curettings revealed an inflammatory infiltrate of plasma cells and lymphocytes superimposed on a proliferative endometrium. In addition to this, there were separate strips of simple granulation tissue composed of proliferative capillaries and venules in an edematous, necrotic background, containing lymphocytes, polymorphocellular cells and macrophages. There was no evidence of tuberculosis or actinomycosis on appropriate staining. Abnormal bleeding developing some time after insertion should always be investigated. In this patient no cause was found for the prolonged bleeding other than the granulation tissue. An intrauterine contraceptive devices are believed to work by causing inflammation and are associated with an increased incidence of pelvic inflammatory disease, it comes as a surprise that associated granulation tissue has not been reported previously.
Histopathology, Feb 1, 1992
Immunohistochemical studies on renal biopsies from eight patients with various types of glomerulo... more Immunohistochemical studies on renal biopsies from eight patients with various types of glomerulonephritis showed that the interstitial foam cells belonged to the monocyte-macrophage lineage. There was a strong association between hypercholesterolaemia and the presence of renal interstitial foam cells.
PubMed, Feb 24, 1990
In two pregnant women the diagnosis fetal triploidy was made by transabdominal villous biopsy at ... more In two pregnant women the diagnosis fetal triploidy was made by transabdominal villous biopsy at 20 and 21 weeks. Chromosomal analysis revealed a 69, XXX respectively 69, XXY karyotype. The diagnosis was suspected because of fetal growth retardation and a large vesicular placenta on sonographic examination. One patient had bilateral multilocular ovarian cysts. She had an eclamptic seizure at 22 weeks. In both patients labour was induced by intravenous prostaglandins. One fetus had a small spina bifida, the other fetus had no congenital malformations. Microscopy of both placentas showed a partial mole. A short description is given of the abnormalities associated with triploidy.
Histopathology, Jul 1, 1990
Panlobar nephroblastomatosis: a distinctive form of renal dysplasia associated with Wilms' tumour... more Panlobar nephroblastomatosis: a distinctive form of renal dysplasia associated with Wilms' tumour An increasing variety of dysplastic lesions of metanephric origin ('the nephroblastomatosis complex') have been recognized as precursors of Wilms' tumour. We describe here four cases of a hitherto unrecognized renal dysplasia associated with Wilms' tumour and having a panlobar distribution. It has many features in common with the intralobar form of nephroblastomatosis, but differs in extending through the full thickness of the renal substance from calyx to capsule. These cases are Keywords: nephroblastoma, dysplasia, cystic disease also characterized by an increased proportion of welldifferentiated tissue elements and by the presence, in some cases, of anomalous metanephric differentiation in the pericalyceal tissues or renal capsule. The presence of Wilms' tissue arising deep in the renal substance should alert the pathologist to make a thorough search for associated dysplastic elements in the kidney.
Histopathology, Feb 1, 1991
Wilms' tumour associated with deep cystic nephroma-like changes: three cases of a putative Wilms'... more Wilms' tumour associated with deep cystic nephroma-like changes: three cases of a putative Wilms' tumour precursor We describe three cases of Wilms' tumour accompanied by central pericalyceal multicystic lesions closely resembling those seen in cystic nephroma. In continuity with these lesions or elsewhere in the kidney were areas of dysplastic renal tissue of the type sometimes referred to as intralobar nephroblastomatosis. A close homology of tissue differentiation was observed between the dysplastic lesions and the interstitial components of the cystic lesions. These findings support the hypothesis that, in some cases at least, cystic nephroma has more in common with the group of dysplastic lesions referred to as the nephroblastomatosis complex than with the true renal tumours of childhood.
The British Journal of Radiology, 2004
Castleman's disease of the neck is an uncommon benign lymphoproliferative disease that usually pr... more Castleman's disease of the neck is an uncommon benign lymphoproliferative disease that usually presents as homogeneously enhancing enlarged lymph nodes on contrast-enhanced CT scan. We described the appearance of four confirmed cases of Castleman's disease of the neck on contrast-enhanced CT scan. Three of these presented as a solitary enhancing lymph node and the fourth case presented with multiple bilateral enhancing lymph nodes. A central non-enhancing area was present in two of the three cases that presented as a solitary node. Pathological correlation of one of these cases showed that this was due to a central fibrotic scar. One of the enhancing nodes in the fourth case with multiple and bilateral lympadenopathy also contained a central non-enhancing area. We would like to propose that if a central non-enhancing scar is observed in an enhancing lymph node in the neck on CT scan, Castleman's disease should be considered as a possible diagnosis. Castleman's disease is an uncommon benign lymphoproliferative disorder that is characterized by hypervascular lymphoid hyperplasia [1, 2]. When this condition affects the neck, it usually presents as a solitary neck mass. There are several previous publications on the imaging features of Castleman's disease of the neck and most of these are single-case reports [1-5]. We would like to describe the appearance of four confirmed cases of Castleman's disease of the neck on post-contrast CT scan, and to suggest that a central non-enhancing scar, if present, is a useful diagnostic clue of the disease.
Histopathology, 1990
Epithelioid angiomatosis in the acquired immunodeficiency syndrome: morphology and differential d... more Epithelioid angiomatosis in the acquired immunodeficiency syndrome: morphology and differential diagnosis A rare vascular proliferation found as a skin lesion in patients suffering from the acquired immunodeficiency syndrome and sometimes referred to as epithelioid angiomatosis is believed to be a manifestation of infection by the cat scratch bacillus or a related organism. We describe the histological findings from eight lesions seen in two cases. In all cases the diagnosis could be confirmed by demonstration within the lesions of groups of gram-negative rod-shaped organisms staining positively with the Warthin-Starry stain. This condition needs to be distinguished from a variety of reactive and neoplastic vascular proliferations.
Annals of Saudi Medicine, 1995
The occurrence of histologically diagnosed primary malignant tumors in Saudi and Yemeni patients ... more The occurrence of histologically diagnosed primary malignant tumors in Saudi and Yemeni patients in Gizan Province over the 11 years from 1982 to 1992 was analyzed. During the study period, 1398 malignancies of known primary site were seen in males and 972 in females. In common with other parts of Saudi Arabia, the overall incidence of malignant disease was low by Western standards with lymphoreticular malignancies relatively common and tumors of lung, bowel, breast and the female genital system relatively uncommon. Some malignancies are more common in Gizan Province as compared to elsewhere in Saudi Arabia. Oral cancer was the most common malignancy in females and the most common overall, probably due to widespread use of oral tobacco preparations. Liver cancer was the most common malignancy in males, reflecting the endemic nature of hepatitis B in the area. The incidence of bladder cancer, and particularly of squamous carcinoma of the bladder, was also more, probably due to the high incidence of schistosomiasis in the area. No significant trends in incidence of specific malignancies were noted over the 11-year study period, even though the period has been marked by dramatic and unprecedented changes in lifestyle and public health.
Cutis, 2004
Infantile myofibromatosis is a rare mesenchymal disorder of infancy and childhood characterized b... more Infantile myofibromatosis is a rare mesenchymal disorder of infancy and childhood characterized by the formation of tumors in the soft tissues, muscle, bone, and viscera. Disease limited to the soft tissues, muscle, and bone has a good prognosis, and excision is curative; however, visceral involvement may be fatal. We present a case of infantile myofibromatosis in a 1-year-old boy and review the literature.
Skeletal Radiology, 2005
The imaging features of extensive lipofibromatosis presenting in a 1-day-old female infant are re... more The imaging features of extensive lipofibromatosis presenting in a 1-day-old female infant are reported. This lesion involved her entire right upper limb, extending from the axilla to the palm of the hand. Radiographs showed marked deformity and thinning of all the right upper-limb bones due to pressure effect of soft-tissue enlargement, especially affecting the distal humerus and proximal forearm bones. Magnetic resonance imaging showed a huge soft-tissue mass infiltrating most of the muscles of the entire upper limb, with bony erosion. The mass was largely T1-isointense, moderately T2hyperintense and showed marked enhancement. There were intra-lesional signal changes consistent with fatty elements. A lesion debulking procedure was performed and the histology was that of lipofibromatosis. The limb was found to be non-viable after the procedure and a subsequent aboveelbow amputation was performed. Although the resection margins were not clear, she had no further recurrence over a subsequent 3-year follow-up period.
Pediatric and Developmental Pathology, 2002
The rhabdoid predisposition syndrome (RPS) is characterized by pedigrees in which two or more ind... more The rhabdoid predisposition syndrome (RPS) is characterized by pedigrees in which two or more individuals carry germline mutations of the hSNF5/INI1 tumor suppressor gene. The tumors associated with the syndrome include atypical teratoid/rhabdoid tumor (AT/RT), choroid plexus carcinoma, medulloblastoma, and extrarenal rhabdoid tumor. Rhabdoid tumor of the kidney (RTK) has not been described as part of the RPS. We report a case of a 7-month-old boy with RTK whose sister had a malignant cerebellar tumor followed by a malignant lung and pleural tumor of childhood with typical rhabdoid histology. Molecular genetic analysis of the RTK and tissue from the pleural tumor revealed in both cases identical nonsense mutations of the hSNF5/INI1 gene on chromosome 22q11.2, where thymidine was substituted for cytosine in base 472. The proband had an identical germline mutation. This is the fifth genetically analyzed RPS pedigree and the first to include an RTK.
Pediatric and Developmental Pathology, 2013
Fetal and Pediatric Pathology, 2008
Alveolar capillary dysplasia is a rare cause of irreversible persistent pulmonary hypertension in... more Alveolar capillary dysplasia is a rare cause of irreversible persistent pulmonary hypertension in newborns resulting from failure of formation of peripheral capillary loops with consequent reduction in the blood-gas barrier. The basic defect in morphogenesis is unknown, although it is postulated that there is a structural abnormality of the hemangioblast precursors of the primitive lung mesenchyme in the septal regions of the developing lung leading to abnormal vasculogenesis. Two cases of alveolar capillary dysplasia evaluated immunohistochemically showed uniform CD117 negativity in the septal interstitial cells forming the pulmonary capillaries. A series of 12 control cases showed positive immunoreactivity for CD117 in a subset of septal interstitial cells forming the putative hemangioblast precursor cells. This novel finding is a useful adjunctive diagnostic tool and may support the hypothesis that absence of putative CD117-positive hemangioblast precursor cells is a key structural defect. This defect results in abnormal vasculogenesis and consequent failure of formation of an adequate blood-gas barrier.
Applied Immunohistochemistry & Molecular Morphology, 2007
Biphasic ductal and myoepithelial lesions of the breast are uncommon. A majority of these rare le... more Biphasic ductal and myoepithelial lesions of the breast are uncommon. A majority of these rare lesions behave in a benign fashion. Malignancy is rare, and preferentially involves the epithelial component. Malignancy in both epithelial and myoepithelial components is even rarer. We report such a case, employing the use of a range of cytokeratins and myoepithelial markers to delineate the extent of each component. In addition, we apply the relatively novel technique of multi-immunolabeling combined with Adobe Photoshop imaging to highlight the different components of the neoplasm on the same tissue section. These ancillary tests can provide much needed information about the contribution of epithelial or myoepithelial components to malignant tumors, hence providing the gateway to further study into their histogenesis and natural history.
The American Journal of Surgical Pathology, 2001
True histiocytic lymphoma, as defined by strict criteria, is a very rare neoplasm. We describe th... more True histiocytic lymphoma, as defined by strict criteria, is a very rare neoplasm. We describe three cases occurring as primary tumors in the central nervous system. The patients, two females and one male, ranged in age from 11 to 69 years. The tumors involved the brain in two cases and spinal cord in one, with a size ranging from 7 to 17 mm. Two patients died at 4 months and 8 months, respectively, and one was alive with disease at 5 months. Pathologically, the tumors comprised groups and sheets of noncohesive large cells with pleomorphic vesicular nuclei, distinct nucleoli, and abundant eosinophilic cytoplasm. A dense inflammatory infiltrate consisting of neutrophils, lymphocytes, plasma cells, and histiocytes was present, with multiple foci of necrosis and abscess formation. All three cases demonstrated an identical immunophenotype: positive for CD68 and lysozyme; focally positive for S-100 protein, CD45RB, and CD4; and negative for CD3, CD20, CD21/CD35, CD1a, CD30, ALK1, myeloperoxidase, glial fibrillary acidic protein, and cytokeratin. The proliferative index ranged from 20% to 35%. Ultrastructural examination further confirmed the histiocytic nature of the tumor cells, characterized by irregularly folded or multisegmented nuclei and abundant cytoplasm containing lysosomes; Birbeck granules, interdigitating cell processes, and cell junctions were not found. Although the presence of abundant inflammatory cells could obscure the neoplastic histiocytes, making the distinction from inflammatory conditions difficult, awareness of this unusual histologic feature and the invariable finding of pleomorphic cells in some areas of the lesion permit the correct diagnosis to be made.