Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report describes the development of multiple-site, biopsy-proven osteonecrosis in a patient with small-cell bronchogenic carcinoma who had received chemotherapy and short-term administration of corticosteroid. Multifocal osteonecrosis has a wide variety of etiologies, but is most often encountered in the clinical setting of corticosteroid administration, connective tissue disorders, transplantation, hemoglobinopathies and dysbarism. In the oncology patient, chemotherapy, corticosteroids and bone marrow transplantation (with associated preparation therapy) have all been implicated as possible causes. There may be a synergistic effect when corticosteroids are used in combination with chemotherapy and radiation treatment. Multiple periarticular abnormalities appearing on serial radionuclide bone scanning of the cancer patient, particularly when symmetric and in a distribution not suggestive of osseous metastatic disease, raise the possibility of multifocal osteonecrosis. Also to be considered in the differential diagnosis are multifocal infection and polysynovitis/arthritis of other etiology. MRI has a high sensitivity and specificity in the diagnosis of osteonecrosis and should be used when this condition is suspected. Early diagnosis of osteonecrosis is important to prevent irreversible bone and joint destruction.
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PMID:Multifocal osteonecrosis following chemotherapy and short-term corticosteroid therapy in a patient with small-cell bronchogenic carcinoma. 804 92

Medullary carcinoma is a recently recognized tumor of the kidney with distinctive microscopic features; the most notable are diffuse and glandular growth patterns, inflammatory infiltrates, and rhabdoid/plasmacytoid cells. It is a clinically aggressive tumor that occurs in relatively young patients. Moreover, this tumor shows a peculiar clinical association: it occurs in patients with sickle cell hemoglobinopathy. The case presented is that of a 37-year-old black woman with a history of bronchial asthma who died suddenly. Autopsy showed a 4-cm renal mass with extension to the inferior vena cava and metastases to the liver. Histologic evaluation showed the characteristic findings of medullary carcinoma of the kidney. This diagnosis prompted the investigation and subsequent detection of sickle cell trait in the deceased, alerting the family to the genetic nature of her illness. This case is the first report of this entity since the original described series of patients and shows the unique nature of this cancer as a marker of a genetic medical disease.
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PMID:Cancer as a marker of genetic medical disease: an unusual case of medullary carcinoma of the kidney. 950 Feb 30

A variety of normal variants or pathologic conditions of the ribs may be overlooked at chest radiography if the ribs are not evaluated carefully. Rib lesions may simulate pulmonary disease as well. Normal rib variants include cervical, intrathoracic, and pelvic ribs; forked rib; fusion and bridging; and pseudarthrosis of the first rib. Trauma-related lesions are common and usually occur in isolation but can alert the radiologist to other injuries. Metastases may appear as vague areas of increased opacity overlying the lung if seen en face and typically have a smooth interface with the lung on oblique images. Chondroid lesions nearly always arise at or near the anterior end of the rib. Osteochondroma (exostosis) typically manifests as a deformity or expansion of the rib with calcification of the cartilaginous cap. Acute rib infections are seen as focal areas of bone destruction, whereas chronic infections may manifest as periosteal reaction or a bone sequestrum. Inferior rib notching may be seen in a wide variety of pathologic conditions. Rib abnormalities may also be seen in fibrous dysplasia, Langerhans cell histiocytosis, Paget disease, and various hemoglobinopathies. In most cases, radiography is sufficient for the identification and diagnosis of normal variants and pathologic conditions of the ribs.
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PMID:Keep your eyes on the ribs: the spectrum of normal variants and diseases that involve the ribs. 1048 69

Renal medullary carcinoma (RMC), an aggressive malignant epithelial neoplasm, first emerged as a distinct clinicopathologic entity in 1995. It affects individuals 40 years of age or younger and is strongly associated with sickle cell disease or trait. The majority of patients with RMC have widely disseminated disease at the time of diagnosis and most fail to respond to both chemotherapy and radiotherapy. Mortality approaches 100%, and death usually occurs within a few months to a year of diagnosis. We report a 6-year-old African-American boy with a history of gross hematuria who died four weeks after diagnosis of disseminated metastatic disease. Autopsy showed a 4.4-cm renal mass with metastases to the contra lateral kidney, liver, lungs and multiregional lymph nodes. RMC should be included in the differential diagnosis of any patient 40 years old or younger with a history of hemoglobinopathy and gross hematuria and/or abdominal or flank pain. A brief discussion of the differential diagnosis, histogenesis and treatment is presented in this study.
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PMID:Renal medullary carcinoma in a six-year-old boy with sickle cell trait. 1453 Aug 15

Renal medullary carcinoma is an epithelial malignant tumor arising from collecting duct epithelium. The tumor is almost exclusive to young black patients with the sickle cell hemoglobinopathies, mainly sickle cell trait (SCT). Most patients present with metastatic disease and have a worse prognosis. An African-American male with sickle cell disease (HbSCD) who was diagnosed to have renal medullary carcinoma is presented here. The clinical, histologic and radiologic features of this tumor are described. In the setting of advanced disease, treatment modalities have proved largely unsuccessful. Given the shared demographic, clinical and radiographic features of these patients, awareness and early diagnosis may prove essential in improving survival.
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PMID:Renal medullary carcinoma. 1689 89

Renal medullary carcinoma (RMC) is a rare neoplasm of the kidney that has been recently described. It is almost exclusive to young patients of African descent and associated with sickle cell hemoglobinopathy, mainly sickle cell trait and hemoglobin sickle cell disease. The prognosis of RMC is very poor because of the highly aggressive behavior of this neoplasm and its resistance to conventional chemotherapy. Metastatic disease is almost universal at the time of presentation, and the malignancy is minimally responsive to a variety of regimens and/or modalities, including surgery, radiotherapy, chemotherapy, and biological immune-modulation therapy. We report the seventh case of a left RMC occurring in a white child with sickle cell trait, but with a localization of the tumor in the left kidney, considered a nonpredominant side for this type of tumor.
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PMID:Renal medullary carcinoma in a white adolescent with sickle cell trait. 2451 63

Although renal medullary carcinoma (RMC) is a rare subtype of kidney cancer, it is particularly devastating in that it is nearly uniformly lethal. No established guidelines exist for the diagnosis and management of RMC. In April 2016, a panel of experts developed clinical guidelines on the basis of a literature review and consensus statements. The goal was to propose recommendations for standardized diagnostic and management approaches and to establish an international clinical registry and biorepository for RMC. Published data are limited to case reports and small retrospective reviews. The RMC Working Group prepared recommendations to inform providers and patients faced with a low level of medical evidence. The diagnosis of RMC should be considered in all patients younger than 50 years with poorly differentiated carcinoma that arises from the renal medulla. These patients should be tested for sickle cell hemoglobinopathies, and if positive, SMARCB1/INI1 loss should be confirmed by immunohistochemistry. The majority of patients with RMC are diagnosed with metastatic disease. Upfront radical nephrectomy should be considered in patients with good performance status and low metastatic burden or after response to systemic therapy. Currently, cytotoxic, platinum-based chemotherapy provides the best, albeit brief, palliative clinical benefit. Vascular endothelial growth factor-directed therapies and mammalian target of rapamycin inhibitors are ineffective in RMC as monotherapy. Therapeutic trials of novel agents are now available for RMC, and every effort should be made to enroll patients in clinical studies.
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PMID:Renal Medullary Carcinoma: Establishing Standards in Practice. 2869 24

Metastatic disease to the breast accounts for less than 1% of all breast carcinoma. Here we describe an unusual case of a 34-year-old black female with history of sickle cell trait who presented to her gynecologist with bilateral palpable breast masses. Based on initial workup including pathology results from biopsies of both breast masses, she was diagnosed with bilateral breast cancer. However further radiographic imaging revealed a large right kidney mass suspicious for primary renal neoplasm along with lung and bone lesions. This prompted re-review of the initial breast pathology. Sickled erythrocytes were identified and results of an additional immunohistochemical panel revealed positive expression of PAX 8, vimentin, Oct3/4, and loss of INI1, confirming the diagnosis of metastatic renal medullary carcinoma. We discuss the importance of considering renal medullary carcinoma in the differential diagnosis when evaluating young patients with sickle cell hemoglobinopathies who present with aggressive metastatic disease.
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PMID:Renal Medullary Carcinoma Masquerading as Bilateral Breast Carcinoma Category: Case Report. 2914 51

Renal medullary carcinoma, also referred to as the seventh sickle cell nephropathy, typically affects young African Americans with sickle cell trait, or, less frequently, patients with sickle cell disease. The existence of renal medullary carcinoma without a concomitant hemoglobinopathy is a topic of controversy. The typical patient is a young male of African or Mediterranean descent, with hematuria and/or flank pain. Most patients have metastatic disease at the time of presentation. The tumor is characteristically a poorly circumscribed mass in the medullary region, commonly showing variable amounts of hemorrhage and necrosis. Microscopically, a characteristic reticular or cribriform pattern with a striking desmoplastic stromal response and a robust mixed inflammatory infiltrate is observed. Collecting duct carcinoma, malignant rhabdoid tumor, urothelial carcinoma, and other subtypes of renal cell carcinoma are in the differential diagnosis. Because of the advanced stage of disease at presentation and the aggressive nature of this malignant neoplasm, survival is poor even with chemotherapy; however, isolated reports of prolonged survival have been documented.
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PMID:Renal Medullary Carcinoma. 3085 71