Table 3.

Clinical and histopathological information about individuals with uterine leiomyomas and a germline mutation in one of the genes encoding SRCAP complex subunits

Individual ID	My6105	My6564	My6606	My6589	My6621a	My6638	My6660a
Clinical information
Number and size of ULsb,c	five (∅ 15 –60 mm), ∼5 smaller	one (∅ 110 mm)	six (∅ 30 –90 mm), ∼50 smaller	one (∅ 97 mm)	two (∅ 32 and 7 mm)	four (∅ 15 –60 mm)d	one (∅ 32 mm)
Weight of the uterus	682 g	612 g	1490 g	387 g	168 g	145 g	160 g
Tumor location (submucous/intramural/subserous)	intramural, partly subserous	intramural	intramural	N/Ae	submucous and intramural	one intramural partly protruding to submucosa, two intramural, one subserous	intramural partly protruding to submucosa
Age at diagnosis	33	42	42	28	30	47	38
Age at hysterectomy	38	46	44	41	38	52	40
Heavy menstrual bleeding	yes	Yes	yes	yes	yes	yes	yes
Pelvic pressure/pain	yes	No	yes	yes	yes	yes	no
Anemia	N/Ae	No	yes	no	yes	yes	yes
Other tumors	lipoma	No	no	no	no	no	breast cancer
Family history
Family history of ULsb	N/Ae	mother, grandmother and 3 aunts	N/Ae	aunt	N/Ae	mother	mother
Family history of hysterectomies	N/Ae	mother, grandmother and 3 aunts	mother and mother’s mother	aunt	mother	mother	no
Histopathology
Cellular	yes	No	yes	yes	yes	yes (m1-m2), no (m3-m4)	no
Nuclear atypia	no	No	mild in some tumors	mild	no	no	no
Mitotic count < 1/10 HPFf	yes	Yes	yes	yes	yes	yes	yes
Atypical mitosis	no	No	no	no	no	no	no
Ischemic degeneration	mild	No	mild	mild	no	yes (m1, m3-m4), no (m2)	strong
Tumor cell necrosis	no	No	no	no	no	no	no
Aberrant vasculature	no	No	no	no	no	no	no
Inflammation	no	N/Ae	no	mild	no	no	no

^aPathogenicity of the germline mutation uncertain, predicted tolerated by SIFT and benign by PolyPhen-2.

^bUL, uterine leiomyoma.

^c∅, diameter.

^dThe largest tumor was ∼60mm prior to presurgical Esmya treatment.

^eN/A, information not available.

^fHPF, high power fields.