Jan 31, 2024
Clinical Presentation
The Classic Triad
Additional Symptoms
The Pathological Landscape
Plasma Tests
Imaging Techniques
Nuclear Medicine Imaging
Preoperative Care
Intraoperative Management
Surgical Intervention
Postoperative Care
Decoding the Malignancy
Treatment Modalities
A Delicate Balancing Act
First and Second Trimesters
Third Trimester
Pheochromocytomas and paragangliomas, rare neuroendocrine tumors, can sometimes weave a complex genetic tale. A subset of these tumors is linked to a hereditary predisposition known as Hereditary Pheochromocytoma and Paragangliomas Syndrome (HPPS). At the heart of this syndrome are mutations in the succinate dehydrogenase (SDH) gene family, particularly involving the SDH B, C, and D subunits.
HPPS exhibits an autosomal dominant inheritance pattern for SDHA, SDHB, and SDHC mutations. In simpler terms, a mutation in just one copy of the gene can lead to the syndrome. However, the inheritance pattern takes an interesting turn for SDHD and SDHAF2 mutations, causing mutations only when inherited from affected fathers.
Beyond the SDH gene family, other players in this genetic orchestra include Myc associated protein X (MAX) and Transmembrane protein 127 (TEM127). The inheritance nuances further deepen, as MAX mutations result in tumors only when inherited from the father. Additionally, germline mutations in B and D subunits of SDH can be found in 10% of patients with sporadic pheochromocytoma (PCC).
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Pheochromocytomas are notorious for their varied and episodic clinical presentation. The age of onset, equally distributed between genders, and the functional nature of these tumors contribute to their mystique.
Unraveling the pathology of pheochromocytoma unveils a spectrum of macroscopic and microscopic features. The tumors, often yellow-tan, exhibit a zell ballen pattern under the microscope, characterized by nests of polygonal/spindle-shaped neuroendocrine chief cells with peripheral glial sustentacular cells. Immunohistochemistry further confirms their identity, with positive markers for chromogranin and synaptophysin in chief cells and S-100 antigen in sustentacular cells.
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Malignant pheochromocytomas, though rare (5-10%), pose a significant challenge in diagnosis and treatment. Factors suggestive of malignancy include an increased PASS score, elevated Ki67, capsular and vascular invasion.
Pheochromocytoma in pregnancy introduces a delicate balance, with potential risks for both mother and fetus. Diagnosis and management depend on the trimester of pregnancy during which the condition is detected.
Initiate medical management with alpha-blockers. Plan for surgical removal ideally in the second trimester.
Consider gestational age and maternal-fetal status. Balance medical management until safe delivery, followed by postpartum surgical resection if near term. Emergency interventions may necessitate a cesarean section followed immediately by adrenalectomy.
In conclusion, navigating the labyrinth of Hereditary Pheochromocytoma and Paragangliomas Syndrome demands a multidisciplinary approach. From deciphering the genetic code to orchestrating surgical interventions, a collaborative effort is essential for unraveling the complexities of this rare and enigmatic syndrome. Early detection, comprehensive diagnostics, and tailored management strategies are the key instruments in this symphony of care.
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Hope you found this blog helpful for your NEET SS Endocrinology Preparation. For more informative and interesting posts like these, keep reading PrepLadder’s blogs.
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