1. Maffucci Syndrome And Associated Morbidities
PARASTOU TAVANA.md
Pediatric hematology/oncology fellowship
Mofid children hospital
25 Bahman 97

2. Maffucci syndrome
A 13-yr-old girl (known case of maffucci syndrome)with irregular menstrual bleeding and abdominal enlargement
at age of 12,she underwent MRI of pelvis due to right hip pain, which showed abnormal bone marrow signals, enchondromatous appearance of femural head and neck
Right femur was more expanded (huge tumor in proximal of femur)

3. Well differentiated chondrosarcoma Orthopedic consultation observation and follow up
Right femoral biopsy

4. سونوگرافی اولیه
توده کیستیک که از لگن شروع شده و تا اپیگاستر ادامه دارد آسیت متوسط در لگن مشهود است. تشخیص: ضایعات تومورال تخمدان

5. سی تی اسکن سینه و شکم :chest-CT نرمال

6. Whole body bone scan Tumoral involvment
Abnormal increased radiotracer uptake of the proximal right humerus, pelvis , (mainly right iliac wing), both femoral bones , tibia bones ,right scapula , right radius and ulnar bones
Tumoral involvment

7. Whole body bone scan

8. Orthopedic consultation
Biopsy of right tibia bone(abnormal uptake in bone scan)
enchondroma

13. Tumor markers AFP & ß-hCG: Nl CA 19-9: Increased (112 u/ml)
CA-125: Nl (22 u/ml)

14. Right ovarian mass resection
Pathology: Juvenile granulosa cell tumor, Omentum showed microscopic foci of tumoral invasion, Lymph nodes : no significant pathologic change
Mitotic index:19/10
Ascites cytology: positive
IHC: Inhibin : positive
EMA : negative
PAX-8:negative

15. Tumor markers after surgery
CA 19-9: Increased (125 u/ml)
CA-125: Increased (102 u/ml)

16. Sonography one week after surgery & before chemotherapy
Solid cystic mass in pelvic cavity ( )

17. FIGO STAGING
Stage 2:
The cancer is in one or both ovaries or fallopian tubes and has spread to other organs (such as the uterus, bladder, the sigmoid colon, or the rectum) within the pelvis or there is primary peritoneal cancer (T2).
It has not spread to nearby lymph nodes (N0) or to distant sites (M0).

19. Evaluation after chemotherapy
Sonography and CT scan and MRI : Nl
Tumor markers:
CA19-9:Increased (99 u/ml)
CA125:Nl (9.3 u/ml)

20. Juvenile granulosa cell tumor associated with Ollier disease
Enchondromatosis or Ollier disease
Incidence: 1 in 100,000
Generalized mesodermal dysplasia
Derangement of cartilaginous growth resulting in incorporation of fragments of the epiphyseal plate within mature bone
Indian J Med Paediatr Oncol Oct-Dec; 37(4): 293–295.
Juvenile granulosa cell tumor associated with Ollier disease

21. Juvenile granulosa cell tumor associated with Ollier disease
Maffucci syndrome :
Enchondromatosis is associated with hemangiomas or lymphangiomas
Chondrosarcoma: malignancy in Ollier disease (risk of 30%–50%)
Indian J Med Paediatr Oncol Oct-Dec; 37(4):

22. primary ovarian malignancies
Epithelium tumors
Germ cell tumors
sex cord tumors:
Granulosa cells
Theca cells
Sertoli cells
or fibroblasts of gonadal stromal origin

23. Ovarian Granulosa Cell Tumor: Clinical Features, Treatment, Outcome, and Prognostic Factors
Granulosa cell tumors (most common type of sex cord stromal tumors
2-5% of ovarian neoplasms
Mean age at diagnosis :13 years
Based on histology: Adult (95%) and juvenile (5%)
The majority of patients are diagnosed at early stage and have a relatively favorable prognosis
Clinical : abdominal enlargement , palpable mass, precocious puberty

24. Ovarian Granulosa Cell Tumor: Clinical Features, Treatment, Outcome, and Prognostic Factors
Localized disease stage I tumor(90%) (observation)
high risk stage I(adjuvant chemotherapy):
large tumor size (≥10-15 cm)
stage IC :pre or post operative rupture , malignant ascites
high mitotic index(>20/10hpf )
stage II-IV (postoperative chemotherapy )

25. Ovarian Granulosa Cell Tumor: Clinical Features, Treatment, Outcome, and Prognostic Factors
Surgical management: stage and age
Premenarchal (reproductive years) with early stage:
unilateral salpingo-oophorectomy
Postmenopausal:
total abdominal hysterectomy and bilateral salpingo-oophorectomy
Department of Radiotherapy and Oncology, Government Medical College and Hospital, Chandigarh, India

26. Stage( most important prognostic factor) 10-year survivals :
Ovarian Granulosa Cell Tumor: Clinical Features, Treatment, Outcome, and Prognostic Factors
Stage( most important prognostic factor)
10-year survivals :
84-95% for stage I tumors
50-65% for stage II disease
17-33% for stages III and IV
Department of Radiotherapy and Oncology, Government Medical College and Hospital, Chandigarh, India

27. Prognostic Value of Ca 125 Levels during Primary Therapy
a retrospective analysis : Ca 125 level in 197patients with epithelial ovarian cancer
followed up for an average of three years ( )
Levels around 100 U/l after treatment are indicative of a bad prognosis
University of Rostock, Südring 81, Rostock, Germany

28. The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease)
A 22-year-old patient with Ollier disease (diagnosed
at 6 months of age )
pelvic pain and a palpable ovarian mass right-side
sonography: well-encapsulated multi locular-solid tumor 113 mm mm 90 mm , tumor originating from the right ovary
histological report :juvenile granulosa cell tumor
International Federation of Gynecology and Obstetrics (FIGO) Stage IC
Taiwanese Journal of Obstetrics & Gynecology(2017)

30. malignant transformation of enchondroma
The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease)
Sonography of right groin :a large soft-tissue tumor ( )soft tissue component of an enchondroma originating from the trochanter tuberosity with the osteolysis
malignant transformation of enchondroma
Taiwanese Journal of Obstetrics & Gynecology(2017)

31. The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease)
Bone Tumor Center: wide resection of the extraosseal soft tissue tumor and the major part of the lesser trochanter followed by curettage sampling of the greater trochanter
chondrosarcoma Grade 2
4 years after first diagnosis and oncological treatment : complete remission
Taiwanese Journal of Obstetrics & Gynecology(2017)

33. Juvenile granulosa cell tumor associated with Ollier disease
A 2.5-year-old female child with precocious puberty
mass was felt in the right hypochondrium
MRI :well-defined right ovarian mass measuring 10 cm × 5 cm × 11 cm with cystic and necrotic areas
Indian J Med Paediatr Oncol Oct-Dec; 37(4): 293–295

34. Juvenile granulosa cell tumor associated with Ollier disease
Another incidental finding :multiple small leisions in right femoral neck, greater and lesser trochanter, and the right iliac blade
metastatic lesions?
ovarian tumor : surgically removed
Indian J Med Paediatr Oncol Oct-Dec; 37(4): 293–295

35. islands of granulosa cells showed Call-Exner bodies

37. Juvenile granulosa cell tumor associated with Ollier disease
Bone scan : no evidence of osteoblastic skeletal metastasis
biopsy of the bone lesions : enchondromas
significant regression of the breast size and pubic hair (few weeks after the surgery)
chemotherapy :germ cell tumor protocol
parents :risk for the development of chondrosarcoma and the need for regular follow-up
Indian J Med Paediatr Oncol Oct-Dec; 37(4): 293–295