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dromlakhani (@dromlakhani) published this skill. Their other Agent Skills are listed on their SkillMD profile.

Ata Ppgl Genetic Variant Treatment Algorithm by dromlakhani

Name: Ata Ppgl Genetic Variant Treatment Algorithm
Rating: 4.2 (5 reviews)
Author: dromlakhani

Ata Ppgl Genetic Variant Treatment Algorithm

This skill selects a treatment algorithm for pheochromocytoma and paraganglioma based on identified germline pathogenic variants, enabling personalized management per syndrome-specific guidelines. It is triggered when a clinician identifies RET, VHL, NF1, or SDHx pathogenic variants and asks how genetic results should change management.

dromlakhani Updated Sep 8, 2026 10 repo stars

File contents

Select treatment algorithm based on genetic pathogenic variants in pheochromocytoma and paraganglioma

STEP 1 — Gather Information

Collect germline genetic test results (RET, VHL, NF1, SDHx) and clinical data: number of lesions, adrenal vs. extra-adrenal location, presence of metastasis, and syndromic features (e.g., medullary thyroid carcinoma, hemangioblastoma, café-au-lait spots).

STEP 2 — Rule In / Rule Out

Is the pathogenic variant in RET, VHL, or NF1? If yes, proceed to syndrome-specific pathway; if no, proceed to SDHx pathway.

STEP 3 — Classify or Stratify

For RET/VHL/NF1: classify by syndrome and follow respective guideline-recommended surveillance (e.g., MEN2, VHL, NF1). For SDHx: stratify by clinical characteristics—multiple/extra-adrenal lesions or high metastasis risk versus solitary adrenal lesion with low risk.

STEP 4 — Decide

For RET/VHL/NF1: implement syndrome-specific surveillance (e.g., annual plasma metanephrines, neck ultrasound, abdominal MRI) and consider prophylactic surgery per syndrome guidelines. For SDHx: if multiple/extra-adrenal lesions or high metastasis risk, obtain intensified imaging (68Ga-DOTATATE PET/MRI) and discuss PRRT/temozolomide/sunitinib (off-label); if low risk, standard biochemical and imaging follow-up every 1–2 years.

Clinical Guardrails / Mimics / Pitfalls

Do not neglect surveillance for SDHx carriers even if initial imaging is negative; avoid invasive procedures based solely on variant without clinical correlation; remember to offer genetic testing and counseling to first-degree relatives; do not assume all SDHx variants confer equal metastasis risk—correlate with phenotype.

Concrete Clinical Example

A 34-year-old with left adrenal pheochromocytoma is found to have a RET codon 634 pathogenic variant. Management follows MEN2 guidelines: annual plasma metanephrines, neck ultrasound for medullary thyroid carcinoma, and discussion of prophylactic thyroidectomy; abdominal MRI biennially to monitor for bilateral or extra-adrenal lesions.

Source: Japan Endocrine Society Clinical Practice Guideline for the Diagnosis and Management of Pheochromocytoma and Paraganglioma 2025, Japan Endocrine Society, 2025, doi:10.1507/endocrj.EJ25-0165

---name: ata-ppgl-genetic-variant-treatment-algorithmdescription: This skill selects a treatment algorithm for pheochromocytoma and paraganglioma based on identified germline pathogenic variants, enabling personalized management per syndrome-specific guidelines. It is triggered when a clinician identifies RET, VHL, NF1, or SDHx pathogenic variants and asks how genetic results should change management.---# Select treatment algorithm based on genetic pathogenic variants in pheochromocytoma and paraganglioma## STEP 1 — Gather InformationCollect germline genetic test results (RET, VHL, NF1, SDHx) and clinical data: number of lesions, adrenal vs. extra-adrenal location, presence of metastasis, and syndromic features (e.g., medullary thyroid carcinoma, hemangioblastoma, café-au-lait spots).## STEP 2 — Rule In / Rule OutIs the pathogenic variant in RET, VHL, or NF1? If yes, proceed to syndrome-specific pathway; if no, proceed to SDHx pathway.## STEP 3 — Classify or StratifyFor RET/VHL/NF1: classify by syndrome and follow respective guideline-recommended surveillance (e.g., MEN2, VHL, NF1). For SDHx: stratify by clinical characteristics—multiple/extra-adrenal lesions or high metastasis risk versus solitary adrenal lesion with low risk.## STEP 4 — DecideFor RET/VHL/NF1: implement syndrome-specific surveillance (e.g., annual plasma metanephrines, neck ultrasound, abdominal MRI) and consider prophylactic surgery per syndrome guidelines. For SDHx: if multiple/extra-adrenal lesions or high metastasis risk, obtain intensified imaging (68Ga-DOTATATE PET/MRI) and discuss PRRT/temozolomide/sunitinib (off-label); if low risk, standard biochemical and imaging follow-up every 1–2 years.## Clinical Guardrails / Mimics / PitfallsDo not neglect surveillance for SDHx carriers even if initial imaging is negative; avoid invasive procedures based solely on variant without clinical correlation; remember to offer genetic testing and counseling to first-degree relatives; do not assume all SDHx variants confer equal metastasis risk—correlate with phenotype.## Concrete Clinical ExampleA 34-year-old with left adrenal pheochromocytoma is found to have a RET codon 634 pathogenic variant. Management follows MEN2 guidelines: annual plasma metanephrines, neck ultrasound for medullary thyroid carcinoma, and discussion of prophylactic thyroidectomy; abdominal MRI biennially to monitor for bilateral or extra-adrenal lesions.**Source:** Japan Endocrine Society Clinical Practice Guideline for the Diagnosis and Management of Pheochromocytoma and Paraganglioma 2025, Japan Endocrine Society, 2025, doi:10.1507/endocrj.EJ25-0165

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