What is the Difference Between Maffucci Syndrome and Li-Fraumeni Syndrome

When a gene undergoes changes, it greatly increases the cancer risk in a family. These conditions are often referred to as family cancer syndrome or genetic cancer syndrome. Maffucci syndrome and Li-Fraumeni syndrome are two different genetic tumor syndromes of soft tissue and bone. They are a group of genetic disorders associated with neoplasms that usually display different features than their sporadic counterparts.

The key difference between Maffucci syndrome and Li-Fraumeni syndrome is their symptoms. Maffucci syndrome causes benign tumors in the cartilage of hands, while Li-Fraumeni syndrome increases the risk of getting certain cancers such as soft tissue carcinoma, osteosarcoma, breast cancer, glioblastoma, neuroblastoma, medulloblastoma, adrenocortical carcinoma, and acute myeloid carcinoma.

CONTENTS

1. Overview and Key Difference
2. What is Maffucci Syndrome 
3. What is Li-Fraumeni Syndrome
4. Similarities – Maffucci Syndrome and Li-Fraumeni Syndrome
5. Maffucci Syndrome vs Li-Fraumeni Syndrome in Tabular Form
6. Summary – Maffucci Syndrome vs Li-Fraumeni Syndrome
7. FAQ – Maffucci Syndrome and Li-Fraumeni Syndrome

What is Maffucci Syndrome?

Maffucci syndrome is a rare genetic disorder that affects the bones and skin. This condition presents symptoms such as the overgrowth of cartilage in the bones (enchondromas), skeletal deformities, and tangles of abnormal blood vessels (hemangiomas) visible on the skin. Other manifestations include bone growth abnormalities, bone fractures, bowed arms or legs, bulging bones, a curved spine, bone destruction, short stature, and uneven arms or legs. Maffucci syndrome is caused by random genetic changes in two genes called IDH1 and IDH2.

Figure 01: Maffucci Syndrome

Maffucci syndrome is diagnosed through physical examination, X-ray, CT scan, and biopsy. Furthermore, treatment options for Maffucci syndrome may include braces or surgeries to correct scoliosis, casts, splints, and operations to fix broken bones, shoe lifts, medications or surgery to reduce differences in leg length, surgery to fix hand abnormalities, surgical removal of enchondromas, and sclerotherapy.

What is Li-Fraumeni Syndrome?

Li-Fraumeni syndrome is a rare hereditary or genetic disorder that increases the risk of getting certain cancers in people and their family members. It affects 5 in 20,000 families worldwide. Li-Fraumeni syndrome happens when something changes in the TP53 gene. Li-Fraumeni syndrome is characterized by a history of the presence of certain childhood cancers.

Figure 02: Li-Fraumeni Syndrome

Li-Fraumeni syndrome can be diagnosed through physical examination, complete blood count, abdominal ultrasound, pelvic ultrasound, and urinalysis. Furthermore, treatment options for Li-Fraumeni syndrome may include chemotherapy, radiation therapy, immunotherapy, monoclonal antibody therapy, and surgery.

Similarities Between Maffucci Syndrome and Li-Fraumeni Syndrome

• Maffucci syndrome and Li-Fraumeni syndrome are two different genetic tumor syndromes of soft tissue and bone.
• Both are caused by genetic mutations.
• Both can be diagnosed through physical examination and imaging tests.
• They can be treated through therapies and surgery.

Difference Between Maffucci Syndrome and Li-Fraumeni Syndrome

Definition

1. Maffucci syndrome is a rare genetic disorder that affects the bones and skin.
2. Li-Fraumeni syndrome is a rare hereditary or genetic disorder that increases the risk of getting certain cancers in people and their family members.

Causes

1. Maffucci syndrome is caused by random genetic changes in two genes called IDH1 and IDH2.
2. Li-Fraumeni syndrome happens when something changes in the TP53 gene.

Signs and Symptoms

1. Maffucci syndrome presents with overgrowth of cartilage in the bones (enchondromas), skeletal deformities, tangles of abnormal blood vessels (hemangiomas) visible on the skin, bone growth abnormalities, bone fractures, bowed arms or legs, bulging bones, a curved spine, bone destruction, short stature, and uneven arms or legs.
2. Li-Fraumeni syndrome is characterized by a history of certain childhood cancers being present.

Diagnosis

1. Maffucci syndrome is diagnosed through physical examination, X-ray, CT scan, and biopsy.
2. Li-Fraumeni syndrome diagnosis involves physical examination, complete blood count, abdominal ultrasound, pelvic ultrasound, and urinalysis.

Treatment

1. Treatment options for Maffucci syndrome may include braces or surgeries to correct scoliosis, casts, splints, operations to fix broken bones, shoe lifts, medications, or surgery to reduce differences in leg length, surgery to correct hand abnormalities, surgical removal of enchondromas, and sclerotherapy.
2. Treatment for Li-Fraumeni syndrome may include chemotherapy, radiation therapy, immunotherapy, monoclonal antibody therapy, and surgery.

The infographic below presents the differences between Maffucci syndrome and Li-Fraumeni syndrome in tabular form for side-by-side comparison.

Summary – Maffucci Syndrome vs Li-Fraumeni Syndrome

Maffucci syndrome is a rare genetic disorder that causes benign tumors in the cartilage in the hands, while Li-Fraumeni syndrome is a rare genetic disorder that increases the risk of getting certain cancers such as soft tissue carcinoma, osteosarcoma, breast cancer, glioblastoma, neuroblastoma, medulloblastoma, adrenocortical carcinoma, and acute myeloid carcinoma. Thus, this is the summary of the difference between Maffucci syndrome and Li-Fraumeni syndrome.

FAQ: Maffucci Syndrome and Li-Fraumeni Syndrome

1. What is the life expectancy of someone with Maffucci syndrome?

• People with Maffucci syndrome also have an increased risk of other cancers like ovarian or liver cancer. People with Maffucci syndrome generally have a normal lifespan, and their intelligence is unaffected.

2. What are the symptoms of Maffucci syndrome?

• Maffucci syndrome might be associated with three types of vascular lesions which include cavernous hemangiomas, phlebectasias, and lymphangiectasias-lymphangiomas and skeletal deformity.

3. What is the difference between Ollier’s disease and Maffucci’s syndrome?

• Ollier disease (OD) and Maffucci syndrome (MS) are both characterized by multiple enchondromas. Ollier disease causes benign tumors in the hands, feet, skull, ribs, and spine. On the other hand, Maffucci syndrome causes benign tumors, mainly in bones and skin.

4. What are Li-Fraumeni syndrome symptoms?

• Li-Fraumeni syndrome is characterized by the history of the presence of certain childhood cancers, unexplained weight loss, loss of appetite, aches, pains, lumps, or swellings that cannot be explained, headaches or changes in vision or nerve function that do not go away.

5. What cancers are common in Li-Fraumeni?

• The most common types of cancer found in families with Li-Fraumeni syndrome include osteosarcoma, acute leukemia, breast cancer, brain cancer, and adrenal cortical tumors.

Reference:

1. “MAFFUCCI Syndrome: Symptoms and Treatment Options.” Medical News Today, MediLexicon International.
2. “Li–Fraumeni Syndrome.” Wikipedia, Wikimedia Foundation.

Image Courtesy:

1. “Autosomal dominant” By Domaina – Own work using:File:ABO system codominance.svg (NIH)File:Autodominant.jpg (NIH) (CC BY-SA 3.0) via Commons Wikimedia
2. “Enchondroma – very high mag.” By Nephron – Own work (CC BY-SA 3.0) via Commons Wikimedia

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