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SDH-DEFICIENT ABDOMINAL PARAGANGLIOMA This paraganglioma with a known
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Book Chapter
Hereditary Predisposition to Adrenal Cortical Lesions
Available to PurchaseSeries: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-07
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... adenomatous polyposis; PPNAD = primary pigmented micronodular adrenal disease. Beyond the pathologic and clinical features of these diseases, the identification of a germ-line mutation is of paramount importance for patient management and follow-up. The implementation of next-generation sequencing...
Book Chapter
Familial and Syndrome-Related Pheochromocytoma and Paraganglioma
Available to PurchaseSeries: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-10
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
...Pheochromocytomas and paragangliomas (PPGLs) are a group of tumors with an extraordinarily high genetic predisposition. Approximately 40 percent of patients with these tumors harbor a germline mutation conveying susceptibility to the development of these and other neoplasms ( 1...
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ADRENAL CORTICAL CARCINOMA IN A MALE PATIENT WITH BRCA2 GE...
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in Hereditary Predisposition to Adrenal Cortical Lesions
> Tumors of the Adrenal Glands and Extra-Adrenal Paraganglia
Published: 01 December 2024
ADRENAL CORTICAL CARCINOMA IN A MALE PATIENT WITH BRCA2 GERMLINE MUTATION Figure 7-9 ADRENAL CORTICAL CARCINOMA IN A MALE PATIENT WITH BRCA2 GERMLINE MUTATION The patient had a previous diagnosis of prostate cancer. The adrenal lesion showed predominant features of the myxoid More about this image found in ADRENAL CORTICAL CARCINOMA IN A MALE PATIENT WITH BRCA2 GE...
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ADRENAL CORTICAL ADENOMA IN A PATIENT WITH FH GERMLINE MUT...
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in Hereditary Predisposition to Adrenal Cortical Lesions
> Tumors of the Adrenal Glands and Extra-Adrenal Paraganglia
Published: 01 December 2024
ADRENAL CORTICAL ADENOMA IN A PATIENT WITH FH GERMLINE MUTATION Figure 7-7 ADRENAL CORTICAL ADENOMA IN A PATIENT WITH FH GERMLINE MUTATION This patient had a previous renal cell carcinoma and a Leydig cell tumor. The adenoma shows a nodular aspect without cytologic atypia More about this image found in ADRENAL CORTICAL ADENOMA IN A PATIENT WITH FH GERMLINE MUT...
Images
PHEOCHROMOCYTOMA AND PARAGANGLIOMA ASSOCIATED WITH GERMLINE FUMARATE HYDRAT...
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in Familial and Syndrome-Related Pheochromocytoma and Paraganglioma
> Tumors of the Adrenal Glands and Extra-Adrenal Paraganglia
Published: 01 December 2024
PHEOCHROMOCYTOMA AND PARAGANGLIOMA ASSOCIATED WITH GERMLINE FUMARATE HYDRATASE (FH) MUTATION Figure 10-6 PHEOCHROMOCYTOMA AND PARAGANGLIOMA ASSOCIATED WITH GERMLINE FUMARATE HYDRATASE (FH) MUTATION A: The pheochromocytoma is associated with an unusual angiomatous proliferation of the cortical More about this image found in PHEOCHROMOCYTOMA AND PARAGANGLIOMA ASSOCIATED WITH GERMLINE FUMARATE HYDRAT...
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PRIMARY BILATERAL MACRONODULAR ADRENAL CORTICAL DISEASE IN A PATIENT WITH A...
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in Hereditary Predisposition to Adrenal Cortical Lesions
> Tumors of the Adrenal Glands and Extra-Adrenal Paraganglia
Published: 01 December 2024
PRIMARY BILATERAL MACRONODULAR ADRENAL CORTICAL DISEASE IN A PATIENT WITH A KNOWN ARMC5 MUTATION AND SUBCLINICAL CUSHING SYNDROME Figure 7-1 PRIMARY BILATERAL MACRONODULAR ADRENAL CORTICAL DISEASE IN A PATIENT WITH A KNOWN ARMC5 MUTATION AND SUBCLINICAL CUSHING SYNDROME More about this image found in PRIMARY BILATERAL MACRONODULAR ADRENAL CORTICAL DISEASE IN A PATIENT WITH A...
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PULMONARY PARAGANGLIOMA A: This paraganglioma was a solitary lesion initia...
Available to PurchasePublished: 01 December 2024
PULMONARY PARAGANGLIOMA Figure 9-32 PULMONARY PARAGANGLIOMA A: This paraganglioma was a solitary lesion initially interpreted as an epithelial pulmonary NET. The patient was found to have a hereditary SDHC mutation. No other primary tumors were found and this tumor contained abundant More about this image found in PULMONARY PARAGANGLIOMA A: This paraganglioma was a solitary lesion initia...
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ABDOMINAL PARAGANGLIOMA A: The tumor, from a patient with a hereditary mut...
Available to PurchasePublished: 01 December 2024
ABDOMINAL PARAGANGLIOMA Figure 9-13 ABDOMINAL PARAGANGLIOMA A: The tumor, from a patient with a hereditary mutation of the SDHB gene (same specimen as in fig. 9-11 ), has mixed nested and trabecular architecture and is composed of monomorphic cells with slightly eosinophilic cytoplasm More about this image found in ABDOMINAL PARAGANGLIOMA A: The tumor, from a patient with a hereditary mut...
Book Chapter
Adrenal Cortical Adenoma
Available to PurchaseSeries: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-05
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... macronodular and micronodular adrenocortical diseases) that shared the activation of the cAMP/PKA pathway as a common hallmark. The second group was composed mainly of adrenal cortical adenomas, either nonfunctioning or with mild autonomous cortisol excess, and was characterized by CTNNB1 mutations...
Images
ABDOMINAL PARAGANGLIOMA This tumor is composed of monomorphic cells with s...
Available to PurchasePublished: 01 December 2024
ABDOMINAL PARAGANGLIOMA Figure 9-25 ABDOMINAL PARAGANGLIOMA This tumor is composed of monomorphic cells with slightly eosinophilic cytoplasm and prominent vacuoles creating a pseudoacinar appearance. This appearance is often associated with SDHB mutation. More about this image found in ABDOMINAL PARAGANGLIOMA This tumor is composed of monomorphic cells with s...
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SDH-DEFICIENT ABDOMINAL PARAGANGLIOMA This paraganglioma with a known
Available to Purchase Published: 01 December 2024
SDH-DEFICIENT ABDOMINAL PARAGANGLIOMA Figure 9-26 SDH-DEFICIENT ABDOMINAL PARAGANGLIOMA This paraganglioma with a known SDHB mutation exhibits small intracytoplasmic vacuoles with flocculent content, which are a well-known characteristic of SDH-deficient renal cell carcinoma More about this image found in SDH-DEFICIENT ABDOMINAL PARAGANGLIOMA This paraganglioma with a known
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PHEOCHROMOCYTOMA: SDHB STAINING A: Loss of SDHB immunoreactivity with reta...
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in Pheochromocytoma and Adrenal Medullary Hyperplasia
> Tumors of the Adrenal Glands and Extra-Adrenal Paraganglia
Published: 01 December 2024
reactivity for SDHB suggests that the tumor is not related to SDHx mutation. More about this image found in PHEOCHROMOCYTOMA: SDHB STAINING A: Loss of SDHB immunoreactivity with reta...
Book Chapter
Pheochromocytoma and Adrenal Medullary Hyperplasia
Available to PurchaseSeries: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-08
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... of germ-line mutations providing genetic susceptibility to multifocal disease, it has become apparent that some of the previous literature may have confused metastasis and multifocal primary lesions, which occasionally occur in unusual locations, such as lung and liver ( 10 ). Therefore, some...
Book Chapter
Paraganglia and Paragangliomas
Available to PurchaseSeries: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-09
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... cardiovascular function postnatally ( 16 , 20 ). Hypoxia-inducible transcription factor 2A (EPAS1), which is critically implicated in the pathobiology of “pseudohypoxic” pheochromocytomas and paragangliomas caused by succinate dehydrogenase mutations ( 21 ), is developmentally regulated in a tissue-specific...
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MESENTERIC PARAGANGLIOMA A: This paraganglioma composed of basophilic and ...
Available to PurchasePublished: 01 December 2024
for the development of metastases, but no other tumors were detectable. Staining for neuroendocrine markers showed the usual trend for these markers: synaptophysin > chromogranin > tyrosine hydroxylase. Although decreased expression of functional markers in paragangliomas is often associated with mutations More about this image found in MESENTERIC PARAGANGLIOMA A: This paraganglioma composed of basophilic and ...
Book Chapter
Adrenal Cortical Nodular Diseases
Available to PurchaseSeries: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-04
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... leiomyomatosis, and renal cancer syndromes, among others ( chapter 7 ). Germline mutations in the ARMC5 gene have been detected in a large proportion (20 to 30 percent) of apparently sporadic cases of PBMAD ( 23 ). ARMC5-related macronodular disease has no gender predominance and often has...
Book Chapter
Clinicopathologic Features of the Adrenal Cortex
Available to PurchaseSeries: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-03
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... in the generalized glucocorticoid resistance syndrome caused by mutations in the glucocorticoid receptor gene NR3C1 ( 6 ). Patients with this syndrome do not have features of Cushing syndrome, but the lack of negative feedback of cortisol on the hypothalamic-pituitary-adrenal axis results in increased...
Book Chapter
Neuroblastoma, Ganglioneuroblastoma, and Ganglioneuroma
Available to PurchaseSeries: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-11
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
...-of-function mutations occur, and paired-like homeobox 2B (PHOX2B), in which germline loss-of-function mutations have been described and in which patients may also have central congenital hypoventilation syndrome (Ondine curse) and/or Hirschsprung disease ( 24 – 27 ). Apart from germline mutations...
Book Chapter
Adrenal Cortical Carcinoma
Available to PurchaseSeries: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-06
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... areas from a central component with an altered reticulin pattern (D), and high degree of atypia with necrosis (E) and atypical mitotic figures (inset). Molecular data favor a multistep progression from normal adrenal cortex to adenoma and subsequently to carcinoma. Some of the gene mutations...
Book Chapter
Congenital Disorders of the Adrenal Gland
Available to PurchaseSeries: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-02
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... and a cytomegalic form ( 5 ). AHC can occur as an X-linked form due to DAX1 mutation, and is associated with a number of single gene disorders and various chromosomal abnormalities. Bilateral adrenal agenesis is a rare condition that is incompatible with postnatal life without hormone replacement ( 6...
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